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nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 AAV-mediated MTMR2 delivery prolongs survival and rescues the pathology in a mouse model of myotubular myopathy Danièle, N.
 2016
 26 S2 p. S117-
1 p.
 artikel
2 A boy with dystrophinopathy, episodic rhabdomyolysis and severe, cyclic emotional and behavioural problems Annexstad, E.
 2016
 26 S2 p. S96-S97
2 p.
 artikel
3 ABSTRACT WITHDRAWN 2016
 26 S2 p. S155-
1 p.
 artikel
4 A case of AD-PEO with a significant decrease in dopamine transporter imaging Kanbara, T.
 2016
 26 S2 p. S177-
1 p.
 artikel
5 ACE-083, a locally-acting TGF-β; superfamily ligand trap, increases muscle mass and strength in a mouse model of Duchenne muscular dystrophy Pearsall, R.
 2016
 26 S2 p. S129-
1 p.
 artikel
6 A challenging diagnosis: McArdle disease with clinicopathological discordance Diniz, G.
 2016
 26 S2 p. S198-S199
2 p.
 artikel
7 A comparative study of care and support for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis Takeuchi, F.
 2016
 26 S2 p. S123-
1 p.
 artikel
8 A comparison of the effects of deflazacort and prednisone versus placebo on timed functional tests in boys with Duchenne muscular dystrophy Meyer, J.
 2016
 26 S2 p. S181-
1 p.
 artikel
9 ACTA1-related mild or typical nemaline myopathy in a three-generation Finnish family Lehtokari, V.
 2016
 26 S2 p. S132-S133
2 p.
 artikel
10 ACTA1-related nemaline myopathy: Reappraisal of the histopathological findings Malfatti, E.
 2016
 26 S2 p. S133-
1 p.
 artikel
11 Adiponectin hinders the NLRP3 inflammasome in a murine model of Duchenne muscular dystrophy Boursereau, R.
 2016
 26 S2 p. S153-
1 p.
 artikel
12 Adult Duchenne population: A growing population Bettolo, C. Marini
 2016
 26 S2 p. S126-
1 p.
 artikel
13 Adult-onset myopathy with characteristic inclusions and autophagic vacuoles Olive, M.
 2016
 26 S2 p. S191-
1 p.
 artikel
14 A dystrophic Duchenne mouse model for testing human antisense oligonucleotides Veltrop, M.
 2016
 26 S2 p. S128-S129
2 p.
 artikel
15 A further case with chronic hemolysis, CIDP and lethal cerebral vasculitis due to a CD59 mutation Korinthenberg, R.
 2016
 26 S2 p. S143-
1 p.
 artikel
16 A histologically diagnosed case with limb-girdle muscular dystrophy type 1A: The youngest case in the literature Diniz, G.
 2016
 26 S2 p. S93-
1 p.
 artikel
17 A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy Van den Bergh, P.
 2016
 26 S2 p. S165-S166
2 p.
 artikel
18 A Japanese nationwide survey on congenital myotonic dystrophy Shichiji, M.
 2016
 26 S2 p. S196-
1 p.
 artikel
19 A juvenile case of eosinophilic fasciitis outcome Kim, S.
 2016
 26 S2 p. S203-S204
2 p.
 artikel
20 A large dominant myotonia congenita family with a V1293I mutation in SCN4A Chung, K.
 2016
 26 S2 p. S197-
1 p.
 artikel
21 Alu-mediated copy number variants in GNE myopathy Zhu, W.
 2016
 26 S2 p. S171-
1 p.
 artikel
22 A missense mutation in the putative sarcoplasmic reticulum transmembrane protein DCST2 causes dominant strongman syndrome Brais, B.
 2016
 26 S2 p. S95-
1 p.
 artikel
23 Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement Oates, E.
 2016
 26 S2 p. S89-
1 p.
 artikel
24 Analysis of the autophagic pathway during in vitro muscle differentiation in X-linked myopathy with excessive autophagy Fernandes, S.
 2016
 26 S2 p. S194-
1 p.
 artikel
25 A new homozygous frameshifting mutation in SPEG causes mild centronuclear myopathy Kaçar Bayram, A.
 2016
 26 S2 p. S117-S118
2 p.
 artikel
26 A new phenotype of RYR1-myopathy: Mild dominant calf myopathy with core pathology Jokela, M.
 2016
 26 S2 p. S136-
1 p.
 artikel
27 A novel bleeding disorder associated with RYR1 mutations Lopez, R.
 2016
 26 S2 p. S89-S90
2 p.
 artikel
28 A novel COL12A1 variant expands the clinical picture for a collagen XII-related myopathy Punetha, J.
 2016
 26 S2 p. S189-
1 p.
 artikel
29 A novel DNAJB6 mutation causing variable phenotypic expression: From distal myopathy to limb girdle muscular dystrophy Stojkovic, T.
 2016
 26 S2 p. S93-S94
2 p.
 artikel
30 A novel homozygous desmin nonsense mutation causes pediatric onset autosomal recessive desminopathy with severe cardiomyopathy Tian, C.
 2016
 26 S2 p. S114-S115
2 p.
 artikel
31 A novel homozygous frameshift deletion in the SH3TC2 gene in a patient with Charcot–Marie–Tooth (CMT) type 4C and severe ataxia Forrester, N.
 2016
 26 S2 p. S141-
1 p.
 artikel
32 A novel mutation in collagen VI as a cause for inter-generational and intra-generational phenotypic heterogeneity in myopathies related to collagen-VI Mendez del Barrio, C.
 2016
 26 S2 p. S189-
1 p.
 artikel
33 A novel mutation in EPG5 cause Vici syndrome with vacuolar myopathy Hedberg-Oldfors, C.
 2016
 26 S2 p. S192-S193
2 p.
 artikel
34 A novel MYH7 mutation causing the Laing distal myopathy in Andalucia Carbonell Corvillo, P.
 2016
 26 S2 p. S173-
1 p.
 artikel
35 Antioxidants improve muscle degeneration process Ishii, A.
 2016
 26 S2 p. S204-
1 p.
 artikel
36 Antioxidant therapy in RYR1-related myopathies Arveson, I.
 2016
 26 S2 p. S137-
1 p.
 artikel
37 A phase III double-blind, randomized, placebo-controlled study (SIDEROS) assessing the efficacy of idebenone in slowing the rate of respiratory function loss in patients with Duchenne muscular dystrophy receiving glucocorticoid steroids Buyse, G.
 2016
 26 S2 p. S157-
1 p.
 artikel
38 A POGLUT1 mutation causes a muscular dystrophy with reduced notch signaling and satellite cell loss Servian-Morilla, E.
 2016
 26 S2 p. S90-
1 p.
 artikel
39 Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations Johnson, K.
 2016
 26 S2 p. S108-S109
2 p.
 artikel
40 A randomized, double-blinded, placebo-controlled, multiple ascending dose study to evaluate the safety, tolerability, pharmacokinetics, immunogenicity, and biological activity of ATYR1940 in adult patients with facioscapulohumeral muscular dystrophy (FSHD) Gershman, A.
 2016
 26 S2 p. S167-
1 p.
 artikel
41 A recessive TTN founder mutation causes a distal myopathy phenotype in a Serbian cohort Topf, A.
 2016
 26 S2 p. S113-S114
2 p.
 artikel
42 Arthrogryposis multiplex congenita (AMC): Spectrum and classification at a tertiary referral center Oncel, I.
 2016
 26 S2 p. S107-
1 p.
 artikel
43 A single neonatal delivery of an exon 2 directed AAV9.U7snRNA vector results in long-term dystrophin expression that prevents pathologic features in the Dup2 mouse Wein, N.
 2016
 26 S2 p. S126-S127
2 p.
 artikel
44 ASO-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice Tasfaout, H.
 2016
 26 S2 p. S209-S210
2 p.
 artikel
45 Assessment of grip strength in Duchenne muscular dystrophy Hogrel, J.
 2016
 26 S2 p. S185-
1 p.
 artikel
46 Assessment of intra-oral structure and swallowing function in pediatric neuromuscular disorders Kılınç, H.
 2016
 26 S2 p. S146-S147
2 p.
 artikel
47 Assessment of lower limbs in FSHD: The ActiMyo as a new outcome for home-monitoring Gidaro, T.
 2016
 26 S2 p. S168-
1 p.
 artikel
48 Association study of exome variants in the NF-κB and TGFβ pathways identifies CD40 as a modifier of Duchenne muscular dystrophy Bello, L.
 2016
 26 S2 p. S98-
1 p.
 artikel
49 Association study reveals novel genetic risk factors associated with sporadic inclusion body myositis Johari, M.
 2016
 26 S2 p. S162-
1 p.
 artikel
50 Atypical phenotype of DMD carrier Haberlova, J.
 2016
 26 S2 p. S125-
1 p.
 artikel
51 Author Index 2016
 26 S2 p. S213-S229
17 p.
 artikel
52 Autoimmune myopathy with cardiac involvement associated with antimitochondrial antibodies González Mera, L.
 2016
 26 S2 p. S144-
1 p.
 artikel
53 Autoimmune rippling muscle disease: IgG antibodies bind to human muscle fibers Güttsches, A.
 2016
 26 S2 p. S203-
1 p.
 artikel
54 Autosomal dominant lower limb restricted congenital myopathy Delatycki, M.
 2016
 26 S2 p. S116-
1 p.
 artikel
55 Awareness and utilization of the Hammersmith Functional Motor Scale – Expanded (HFMSE): A survey Montes, J.
 2016
 26 S2 p. S103-S104
2 p.
 artikel
56 Awareness of caregivers about swallowing disorders in pediatric neuromuscular diseases Kılınç, H.
 2016
 26 S2 p. S147-
1 p.
 artikel
57 Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA Chabanon, A.
 2016
 26 S2 p. S103-
1 p.
 artikel
58 Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study Annoussamy, M.
 2016
 26 S2 p. S116-S117
2 p.
 artikel
59 Bethlem myopathy phenotypes and follow up: Description of 8 patients in the mildest end of the spectrum Cruz, S.
 2016
 26 S2 p. S187-S188
2 p.
 artikel
60 Beyond the skeletal muscle: Caregiver and patient preferences for treatment targets for Duchenne/Becker muscular dystrophy Peay, H.
 2016
 26 S2 p. S125-S126
2 p.
 artikel
61 Biallelic mutations in UNC80 cause severe hypotonia, muscle weakness, growth retardation, and intellectual disability Stray-Pedersen, A.
 2016
 26 S2 p. S197-S198
2 p.
 artikel
62 BMS-986089: A novel adnectin protein that dose dependently lowers free myostatin and increases muscle volume and lean body mass Jacobsen, L.
 2016
 26 S2 p. S95-
1 p.
 artikel
63 BMS-986089 is a high affinity anti-myostatin adnectin that increases muscle volume in three preclinical species Madireddi, M.
 2016
 26 S2 p. S94-S95
2 p.
 artikel
64 Bone health in Duchenne muscular dystrophy Peay, H.
 2016
 26 S2 p. S121-
1 p.
 artikel
65 Bone health in steroid treated Duchenne muscular dystrophy: A regional case series from the Southwest of the UK Dawson, P.
 2016
 26 S2 p. S182-
1 p.
 artikel
66 Bone health monitoring clinical laboratory and image evaluation in Duchenne muscular dystrophy with steroid treatment Escobar, R.
 2016
 26 S2 p. S121-
1 p.
 artikel
67 Bone status in children with types II and III spinal muscular atrophy: A prospective longitudinal study Baranello, G.
 2016
 26 S2 p. S104-S105
2 p.
 artikel
68 Bulgarian patient registry for Duchenne (DMD) and Becker (BMD) muscular dystrophy Kastreva, K.
 2016
 26 S2 p. S98-
1 p.
 artikel
69 Bumetanide in hypokalaemic periodic paralysis: a randomised, double-blind, placebo controlled phase II clinical trial with a crossover design Scalco, R.
 2016
 26 S2 p. S197-
1 p.
 artikel
70 Calpainopathy in Chile, first cases reported Bevilacqua, J.
 2016
 26 S2 p. S91-
1 p.
 artikel
71 Cardiac evaluation in Duchenne muscular dystrophy patients presenting with acute severe chest pain Hor, K.
 2016
 26 S2 p. S121-S122
2 p.
 artikel
72 Case report: Non SMARD1 presentation of IGHMBP2 mutation with late onset diaphragmatic weakness Kulshrestha, R.
 2016
 26 S2 p. S106-
1 p.
 artikel
73 CAT-1004, an oral agent targeting NF-kB: MoveDMD trial results in Duchenne muscular dystrophy (DMD) Finanger, E.
 2016
 26 S2 p. S157-
1 p.
 artikel
74 Celiac disease and myopathy Ekmekci, O.
 2016
 26 S2 p. S150-
1 p.
 artikel
75 Central nervous system involvement in late onset Pompe disease (LOPD): Clues from neuropsychological, morphological and functional MRI studies Musumeci, O.
 2016
 26 S2 p. S109-
1 p.
 artikel
76 Challenges developing therapies for inclusion body myositis Hanna, M.
 2016
 26 S2 p. S151-
1 p.
 artikel
77 Changes in sarcomeric contractile function influence force generation in facioscapulohumeral muscular dystrophy Lassche, S.
 2016
 26 S2 p. S167-
1 p.
 artikel
78 Changing diagnosis during follow-up Moreno, T.
 2016
 26 S2 p. S139-
1 p.
 artikel
79 Characteristics and natural history of oculopharyngeal muscular dystrophy (OPMD): The study protocol of ‘OPMD Forte’ Kroon, H.
 2016
 26 S2 p. S139-S140
2 p.
 artikel
80 ClinBio-GNE: A longitudinal clinical, functional and imaging evaluation of patients affected by GNE myopathy Gidaro, T.
 2016
 26 S2 p. S169-
1 p.
 artikel
81 Clinical and mutational spectrum of congenital muscular dystrophy with defective alpha-dystroglycan glycosylation in Korea Cho, A.
 2016
 26 S2 p. S163-
1 p.
 artikel
82 Clinical and pathological heterogeneity in a family with ACTA1 mutation and TTN variants Dhawan, P.
 2016
 26 S2 p. S133-
1 p.
 artikel
83 Clinical features of knee osteoarthritis in patients with sporadic inclusion body myositis Sugie, K.
 2016
 26 S2 p. S202-
1 p.
 artikel
84 Clinical, molecular, radiological investigations in patients with SURF1 mutations and muscle biopsy findings Köse, M.
 2016
 26 S2 p. S174-
1 p.
 artikel
85 Clinical, muscle biopsy and image findings in reversible infantile respiratory chain deficiency Paim, J.
 2016
 26 S2 p. S175-S176
2 p.
 artikel
86 Clinical, muscle pathology and genetic features of GNE myopathy patients in Egypt: Case report EL Sherif, R.
 2016
 26 S2 p. S170-
1 p.
 artikel
87 Clinical outcome of 22 years of daily deflazacort treatment in a 32-year-old patient with Duchenne muscular dystrophy Tian, C.
 2016
 26 S2 p. S182-
1 p.
 artikel
88 Clinical outcome study for dysferlinopathy: One-year follow-up Paradas, C.
 2016
 26 S2 p. S92-S93
2 p.
 artikel
89 Clinical, pathologic, genetic features of congenital myopathies Lee, H.
 2016
 26 S2 p. S115-
1 p.
 artikel
90 Clinical, radiological, and genetic survey of patients with muscle–eye–brain disease caused by mutations in POMGNT1 Yiş, U.
 2016
 26 S2 p. S165-
1 p.
 artikel
91 Clinical safety of eteplirsen, a phosphorodiamidate morpholino oligomer (PMO), in Duchenne muscular dystrophy (DMD) patients amenable to skipping exon 51 of the DMD gene Mendell, J.
 2016
 26 S2 p. S153-S154
2 p.
 artikel
92 Clinimetric studies in centronuclear myopathies Rosa, T.
 2016
 26 S2 p. S117-
1 p.
 artikel
93 Coalition to cure calpain 3: A patient organization committed to treating and ultimately curing limb girdle muscular dystrophy type 2A Levy, J.
 2016
 26 S2 p. S91-
1 p.
 artikel
94 Collagen VI and endotrophin regulate glucose homeostasis in skeletal muscle Rodriguez, M.
 2016
 26 S2 p. S188-
1 p.
 artikel
95 Combined therapy with deflazacort and doxycycline is superior than deflazacort monotherapy in alleviating dystrophic phenotype in long-term therapy: A pre-clinical study Pereira, J. Alves
 2016
 26 S2 p. S132-
1 p.
 artikel
96 Comparing biomarker expression between sub-populations of Duchenne muscular dystrophy patients, measured using immunostaining in muscle biopsies Boekhoorn, K.
 2016
 26 S2 p. S158-S159
2 p.
 artikel
97 Comparing clinical phenotype of patients with Duchenne muscular dystrophy with deletions amenable to skipping exons 44, 45, and 53 Wang, S.
 2016
 26 S2 p. S95-
1 p.
 artikel
98 Compensatory trunk movements during functional tasks in patients with Duchenne muscular dystrophy Peeters, L.
 2016
 26 S2 p. S183-S184
2 p.
 artikel
99 Complex processing of titin C-terminus by alternative cleavage of the is7 domain Vihola, A.
 2016
 26 S2 p. S114-
1 p.
 artikel
100 Comprehensive analysis of TTN coding regions in myopathic patients: Challenges and opportunities Savarese, M.
 2016
 26 S2 p. S89-
1 p.
 artikel
101 Comprehensive screening for genetic diagnosis in large Japanese congenital myopathy cohort Nishikawa, A.
 2016
 26 S2 p. S163-
1 p.
 artikel
102 Congenital fiber type disproportion myopathy and novel compound heterozygous mutations in the RYR1 gene. Next generation sequencing – A first line diagnostic tool for congenital myopathy Takamura, K.
 2016
 26 S2 p. S137-
1 p.
 artikel
103 Congenital mirror movements in alpha-dystroglycanopathy (ADG) due to SGK196 mutation Ardicli, D.
 2016
 26 S2 p. S165-
1 p.
 artikel
104 Congenital mitochondrial encephalomyopathy with complex I deficiency due to mutations in sideroflexin 4 (SFXN4) Tulinius, M.
 2016
 26 S2 p. S175-
1 p.
 artikel
105 Congenital myasthenic syndrome due to COLQ mutations: Clues for diagnosis Haliloglu, G.
 2016
 26 S2 p. S112-
1 p.
 artikel
106 Congenital myopathy with selective muscle atrophy, necklace-like fibres/central cores and craniosynostosis associated with recessive mutations in SCN4A Gonorazky, H.
 2016
 26 S2 p. S193-
1 p.
 artikel
107 Contractile dysfunction in permeabilized muscle fibers of NEM6 patients with the Dutch founder mutation in KBTBD13 de Winter, J.
 2016
 26 S2 p. S134-
1 p.
 artikel
108 Contractile weakness in NEM3 patients is caused by dysfunctional sarcomeres Joureau, B.
 2016
 26 S2 p. S134-
1 p.
 artikel
109 Controversial preclinical results in neuromuscular animal models: Are they related to differences in mesenchymal stromal cells (MSCs) secretome? Assoni, A.
 2016
 26 S2 p. S128-
1 p.
 artikel
110 Correlation between mutation size and cardiac involvement in myotonic dystrophy type 1: An analysis of the DM1-heart registry Wahbi, K.
 2016
 26 S2 p. S194-
1 p.
 artikel
111 CRISPR/Cas9-mediated exon inclusion in Lama2 gene alleviates dystrophic pathology in MDC1A mouse model Kemaladewi, D.
 2016
 26 S2 p. S190-
1 p.
 artikel
112 Cross-sectional data on the 100 meter timed test in boys with Duchenne muscular dystrophy compared to age-matched controls Berry, K.
 2016
 26 S2 p. S186-
1 p.
 artikel
113 Cryptic splice site activation by a splice donor site mutation of dystrophin intron 64 is determined by intronic splicing regulatory elements Niba, E.
 2016
 26 S2 p. S96-
1 p.
 artikel
114 Current status of dystrophinopathy national registry in Japan Kimura, E.
 2016
 26 S2 p. S119-
1 p.
 artikel
115 Dantrolene as a treatment option for RYR1-related rhabdomyolysis Scalco, R.
 2016
 26 S2 p. S136-
1 p.
 artikel
116 Database crossing allows better understanding of neuromuscular disorders epidemiology: The Belgian example Bleyenheuft, C.
 2016
 26 S2 p. S207-
1 p.
 artikel
117 Delayed-onset Clevudine-induced myopathy: A case report Yoo, D.
 2016
 26 S2 p. S207-
1 p.
 artikel
118 Deoxyribonucleoside supply rescues mtDNA depletion in human POLG-deficient fibroblasts Blázquez-Bermejo, C.
 2016
 26 S2 p. S177-
1 p.
 artikel
119 Desmin-associated myofibrillar myopathy with cap-like structures in the muscle biopsy Silva, A.
 2016
 26 S2 p. S115-
1 p.
 artikel
120 Desminopathy in Chile, first cases reported Bevilacqua, J.
 2016
 26 S2 p. S114-
1 p.
 artikel
121 Detection of early change in Fukuyama congenital muscular dystrophy by STIR skeletal muscle MRI Ishiguro, K.
 2016
 26 S2 p. S99-S100
2 p.
 artikel
122 Development of a CRISPR/Cas9-mediated gene editing platform to restore the reading frame for 60% of Duchenne muscular dystrophy patients Young, C.
 2016
 26 S2 p. S127-S128
2 p.
 artikel
123 Development of a prognostic model for 1-year change in 6-minute walk distance (6MWD) in patients with Duchenne muscular dystrophy (DMD) Goemans, N.
 2016
 26 S2 p. S182-S183
2 p.
 artikel
124 Development of a proxy motor outcome measurement scale in young children with neuromuscular disorders Arveson, I.
 2016
 26 S2 p. S148-
1 p.
 artikel
125 Development of a robust disease specific functional measure suitable for trials in ambulant and non-ambulant individuals with dysferlinopathy James, M.
 2016
 26 S2 p. S93-
1 p.
 artikel
126 Development of a validated western blot method for quantification of human dystrophin protein Schnell, F.
 2016
 26 S2 p. S160-
1 p.
 artikel
127 Development of a zebrafish model for GNE myopathy Livne, H.
 2016
 26 S2 p. S171-
1 p.
 artikel
128 Development of digital tissue image analysis solution for muscle biopsies in support of disease-modifying therapies for Duchenne muscular dystrophy Tinsley, J.
 2016
 26 S2 p. S155-
1 p.
 artikel
129 Diagnostic implications of three cases of skeletal muscle light-chain (AL) amyloidosis Reimann, J.
 2016
 26 S2 p. S208-
1 p.
 artikel
130 Diagnostic utility of MxA expression for dermatomyositis Uruha, A.
 2016
 26 S2 p. S145-
1 p.
 artikel
131 Diagnostic value of the activity of mitochondrial respiratory chain complex for mitochondrial myopathies Lebrato-Hernandez, L.
 2016
 26 S2 p. S179-
1 p.
 artikel
132 Digital PCR quantification of miR-30c and miR-181a as serum biomarkers in Duchenne muscular dystrophy Llano-Diez, M.
 2016
 26 S2 p. S159-
1 p.
 artikel
133 Distal myopathy with associated hemiatrophy Goyal, N.
 2016
 26 S2 p. S173-
1 p.
 artikel
134 Distinctive IFNγ signature in anti-synthetase syndrome and inclusion body myositis compared to dermatomyositis Rigolet, M.
 2016
 26 S2 p. S203-
1 p.
 artikel
135 Distinct myopathic phenotypes associated with two novel mutations at the anticodon stem pair 28T:42A of the MT-TN gene of the mtDNA Blázquez, A.
 2016
 26 S2 p. S176-S177
2 p.
 artikel
136 Distribution and severity of weakness in patients with polymyositis and dermatomyositis: Different pathophysiology, different affected muscle groups Durmus, H.
 2016
 26 S2 p. S146-
1 p.
 artikel
137 DMD genotypes and loss of ambulation in the CINRG Duchenne natural history study Bello, L.
 2016
 26 S2 p. S119-
1 p.
 artikel
138 DM2-linked myopathy caused by uninterrupted short (CCTG)50–70 repeat expansion in CNBP Suominen, T.
 2016
 26 S2 p. S194-
1 p.
 artikel
139 Does neck flexion muscle strength affect function status and performance in children with Duchenne muscular dystrophy? Bozgeyik, S.
 2016
 26 S2 p. S184-
1 p.
 artikel
140 Drug-induced myopathies in adults Hilton-Jones, D.
 2016
 26 S2 p. S151-
1 p.
 artikel
141 Duchenne dynamic arm study: Quantitative description of upper extremity function and activity of boys and men with DMD Janssen, M.
 2016
 26 S2 p. S183-
1 p.
 artikel
142 Duchenne muscular dystrophy: Clinical, genetic and pathological changes in preclinical and early stages Costa, E.
 2016
 26 S2 p. S124-
1 p.
 artikel
143 Dutch founder mutation in MICU1 found in seven patients with a LGMD-like phenotype and cognitive impairment Ginjaar, I.
 2016
 26 S2 p. S176-
1 p.
 artikel
144 Dystroglycanopathy: Description of the first patient cohort in Spain Adarmes Gómez, A.
 2016
 26 S2 p. S163-
1 p.
 artikel
145 Dystrophin expression in the non-DMD population: What is normal? Johnsen, R.
 2016
 26 S2 p. S160-
1 p.
 artikel
146 ECG abnormalities correlate with myocardial fibrosis by cardiac magnetic resonance imaging in DMD Hor, K.
 2016
 26 S2 p. S121-
1 p.
 artikel
147 Editorial Board 2016
 26 S2 p. CO2-
1 p.
 artikel
148 Effect of a multi-disciplinary approach to diagnosis and management for non-lysosomal skeletal muscle glycogen storage disorders Godfrey, R.
 2016
 26 S2 p. S198-
1 p.
 artikel
149 Effect of anti-cytosolic 5′-nucleotidase 1A (NT5C1A) antibody on cultured muscle cells and muscle fibers of mice Tawara, N.
 2016
 26 S2 p. S202-
1 p.
 artikel
150 Effect of anti-cytosolic 5′-nucleotidase 1A (NT5C1A) antibody on cultured muscle cells and muscle fibers of mice Tawara, N.
 2016
 26 S2 p. S201-
1 p.
 artikel
151 Effect of deflazacort and prednisone on muscle enzymes in the treatment of Duchenne muscular dystrophy Dubow, J.
 2016
 26 S2 p. S180-
1 p.
 artikel
152 Effect of deflazacort and prednisone versus placebo on muscle strength in boys with Duchenne muscular dystrophy who have lost ambulation: Results from the deflazacort clinical trial program Cunniff, T.
 2016
 26 S2 p. S182-
1 p.
 artikel
153 Effect of deflazacort and prednisone versus placebo on pulmonary function in boys with Duchenne muscular dystrophy who have lost ambulation Dubow, J.
 2016
 26 S2 p. S179-S180
2 p.
 artikel
154 Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease Papadopoulos, C.
 2016
 26 S2 p. S109-S110
2 p.
 artikel
155 Effects of glucocorticoid treatment in an adult population of Duchenne muscular dystrophy patients attending the neuromuscular complex care centre: An observational study Desikan, M.
 2016
 26 S2 p. S125-
1 p.
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156 Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation Zenagui, R.
 2016
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157 Electrical impedance myography in Duchenne muscular dystrophy detects disease progression in boys younger than 7 years of age Darras, B.
 2016
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158 EMG diagnosis of McArdle disease with long exercise test Semplicini, C.
 2016
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159 Endoplasmic reticulum stress in the pathogenesis of a murine model and patients of inclusion body myositis Yamashita, S.
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160 ERT efficacy in late onset Pompe disease Xirou, S.
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161 Establishment of a murine model of vocal cord and pharyngeal weakness with distal myopathy Zhang, X.
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162 Eteplirsen, a phosphorodiamidate morpholino oligomer (PMO) for Duchenne muscular dystrophy (DMD): Longitudinal comparison to external controls on six-minute walk test (6MWT) and loss of ambulation (LOA) Mendell, J.
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163 Evaluating the effect of a monetary incentive on performance of the 100-meter timed test in Duchenne muscular dystrophy Alfano, L.
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164 Evaluation of a panel of new monoclonal antibodies to α913-DG Pagalday, V.
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165 Evaluation of swallowing pressure in patients with neuromuscular disorder using high-resolution manometry system Suh, J.
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166 Exercise intervention in a family with exercise intolerance and a novel mutation in the mitochondrial POLG gene Morán, M.
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167 Exercise intolerance and myalgia: First clinical sign of a primary alpha-sarcoglycanopathy Ortez, C.
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168 Exome sequencing identifies a novel MYH7 mutation in a patient with nemaline myopathy and cardiomyopathy Malfatti, E.
 2016
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169 Expanded King–Denborough phenotype and congenital myopathy in two brothers with RYR1 mutation Munell, F.
 2016
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170 Expanding the clinical and molecular findings in a patient with Pompe disease Lubieniecki, F.
 2016
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171 Exploring the microvascular abnormalities in a cohort of paediatric patients with spinal muscular atrophy Scoto, M.
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172 Expression of multisystem proteinopathy (MSP) proteins in rimmed vacuolated fibers of tibial muscular dystrophy – Distal titinopathy Lindfors, M.
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173 Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy Seferian, A.
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174 Filamin C myofibrillar myopathy: Changes in autophagy both cause and can treat the disease Ruparelia, A.
 2016
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175 FSHD with severe asymmetrical weakness of abdominal muscles Straathof, C.
 2016
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176 Functional assessment of nebulin interactions with actin Laitila, J.
 2016
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177 Functional studies of YBX3 variants associated with nemaline myopathy Sagath, L.
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178 Functions of the SIL1-BiP chaperone system in maintaining muscle fiber integrity Roos, A.
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179 Gastric dysmotility in Duchenne muscular dystrophy: Distribution of dystrophin and utrophin in gastric musculature Fuller, C.
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180 Gene editing using CRISPR/Cas9 in neuromuscular disorders Gonorazky, H.
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181 Generation of recombinant human IgG monoclonal antibodies from immortalized sorted B cells Coenen, D.
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182 Gene replacement therapy as a novel approach for the treatment of oculopharyngeal muscular dystrophy Malerba, A.
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183 Gene Therapy 2.0: CRISPR/Cas9 genome editing provides novel therapeutic avenues for neuromuscular disorders Cohn, R.
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184 Genetic analyses and clinical features in a series of eight unrelated patients with Glycyl-tRNA synthetase (GARS) variants Rattihalli, R.
 2016
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185 Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: Validation analysis of DMD mutations Okubo, M.
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186 Genetic landscapes in neuromuscular disorders: The influence of next-generation sequencing analysis Neri, M.
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187 Genetic profile of Brazilian patients with dystrophinopathies Sauma, L.
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188 Gene variants in SMCHD1 and DNMT3B modify the risk for FSHD Van der Maarel, S.
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189 Genotype–phenotype correlation in VLCAD deficiency Takayama, K.
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190 Getting the picture of facioscapulohumeral muscular dystrophy: Muscle magnetic resonance imaging and ultrasound Mul, K.
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191 Glucocorticoids deflazacort and prednisone show muscle strength effects versus placebo in boys with Duchenne muscular dystrophy ages 5–7 Sazani, P.
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192 GNE myopathy biomarkers: Essential for diagnosis and response to therapy Malicdan, M.
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193 GNE myopathy: Characteristics of affected patients diagnosed in mainland France Behin, A.
 2016
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194 Growth patterns and fractures in boys with Duchenne muscular dystrophy: Insights from over 800 boys in the UK North Star cohort Joseph, S.
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195 Gut transit in patients with DMD is normal: Results of study using a wireless motility capsule Kraus, D.
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196 Hand grip strength as a predictor of general functional capacity in non-ambulatory children with Duchenne muscular dystrophy Bulut, N.
 2016
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197 Height is significantly shorter in Duchenne muscular dystrophy than Becker muscular dystrophy and the incidence of short stature is highest in Dp71 mutated subgroup Matsumoto, M.
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198 Hereditary inclusion body myopathy in Turkish sisters with a novel mutation in the GNE gene Diniz, G.
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199 Hereditary myopathies with early respiratory failure Naddaf, E.
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200 High fat infiltration and increased muscle T2 measured by 1H-NMR in a new dysferlinopathy murine model Gerhalter, T.
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201 HT-100 increases muscle strength and is safe at low doses in DMD ambulant and non-ambulant boys: Results of HALO-DMD-01 and HALO-DMD02 clinical trials Escolar, D.
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202 HyperCKemia and myalgia are the most common presentation of anoctamin-5 (ANO5) related myopathy in French patients Papadopoulos, C.
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203 Hypertrophic cardiomyopathy and abnormal glycogen storage in heart and skeletal muscle associated with inactivation of KLHL24 Hedberg-Oldfors, C.
 2016
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204 IBIC-LG: Database of muscle images of patients with limb-girdle muscular dystrophy in Japan Nakayama, T.
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205 IBIC-LG: Selectivity pattern of muscular MRI images in limb-girdle muscular dystrophy (LGMD) 2A using database of skeletal muscular images Iwabuchi, E.
 2016
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206 Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy McDonald, C.
 2016
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207 Identification of a post-translational modification with ribitol-phosphate and its defect in muscular dystrophy Toda, T.
 2016
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208 Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing Phillips, L.
 2016
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209 Implementation and process evaluation of the energetic study Veenhuizen, Y.
 2016
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210 Improved efficacy and reduced osteoporosis following methylprednisolone – Nano liposomes treatment in mdx mice Yanay, N.
 2016
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211 Inclusion body myositis with granuloma: Case report Vidal, N.
 2016
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212 Inhibition of PIK3C2B as a treatment strategy for myotubular myopathy Sabha, N.
 2016
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213 Integrated prospective results from the deflazacort clinical program suggest less severe psychiatric adverse events with deflazacort versus prednisone in Duchenne muscular dystrophy Dubow, J.
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214 Interdisciplinary management of Duchenne muscular dystrophy patients on daily glucocorticoid treatment: Maximizing functional outcomes and minimizing glucocorticoid side effects Wong, B.
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215 Interest of whole-body muscle MRI for the diagnosis of Pompe disease in rigid spine syndrome and differential diagnosis Cavassa, E.
 2016
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216 Intramuscular blood flow quantification with power Doppler ultrasonography Dori, A.
 2016
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217 Intranuclear protein aggregation in myofibrillar myopathies Dominguez Rubio, R.
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218 Investigation of the relation between the trunk and upper limb functions in DMD Bulut, N.
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219 In vitro activation of type I interferon pathway reproduces the characteristics damages observed in dermatomyositis patients Ladislau, L.
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220 Is late-onset type II glycogenosis underdiagnosed in Brussels and Wallonia (Belgium)? Remiche, G.
 2016
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221 Isolation and characterization of human urinary stem cells from healthy donors and DMD patients as in vitro cell model for functional studies and drug testing Falzarano, M.
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222 Jagged1 as a modifier of the DMD phenotype: What is next? Vieira, N.
 2016
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223 Japanese nationwide registry for Fukuyama congenital muscular dystrophy patients Ishigaki, K.
 2016
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224 JC-virus-related progressive multifocal leukoencephalopathy in a myasthenic patient treated by rituximab Eymard, B.
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225 Jellification of medicine after simple suspension method for muscular dystrophy patients with dysphagia Arahata, H.
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226 Lack of estrogens impairs motor function and muscle structure in dystrophic mice Gayi, E.
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227 Lambert–Eaton syndrome in children, a rare unrecognized treatable neuromuscular disorder: Is there any useful feature in the muscle biopsy? Nascimento, A.
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228 Laminopathies: Why make it simple when it can be complex? Bonne, G.
 2016
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229 Large copy number variants are common in the nebulin gene Pelin, K.
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230 Late-onset Pompe disease signs and impacts: A conceptual model Stewart, A.
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231 Late onset riboflavin responsive lipid myopathy with multiple acyl-CoA dehydrogenase deficiency: Report of four patients Rojas-Marcos, I.
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232 LDB3/ZASP-related myofibrillar myopathy associated with marked phenotypic variability Laneuville, M.
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233 LGMD2D intrafamilial clinical heterogeneity caused by alternative splicing of SGCA gene Gonzalez-Quereda, L.
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234 LGMD2I elicits a specific skeletal muscle immune response Schara, U.
 2016
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235 Life prognostic factor of patients with Duchenne muscular dystrophy Saito, T.
 2016
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236 Limb-girdle muscular dystrophy 1 G (LGMD1G) with numerous rimmed vacuoles due to a defect in the RNA-binding protein HNRNPDL – Report of an Argentinian family of Italian ancestry Lornage, X.
 2016
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237 Liver functional impairment in myotonic dystrophy type 1 Takada, H.
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238 Living well with a neuromuscular disease: A newly established course for patients and their families Ashworth, J.
 2016
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239 LMNA-associated congenital muscular dystrophy: 3 cases presenting dropped head syndrome Ferreira, J.
 2016
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240 Local muscle strength, oxygen extraction capacity, and exercise capacity in adults with RYR1-related myopathies: Exploratory study Witherspoon, J.
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241 Longitudinal changes in oral and masticatory muscles in Duchenne muscular dystrophy: A disturbed balance Lagarde, M.
 2016
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242 Longitudinal results of magneto-inertial motion analysis in Duchenne muscular dystrophy ambulant patients Seferian, A.
 2016
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243 Long-term follow up of a benign congenital GBE1 deficiency: Report of three siblings Ortez, C.
 2016
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244 Long-term outcome of juvenile myasthenia gravis: A nationwide population based study Popperud, T.
 2016
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245 Long-term treatment with eteplirsen promotes exon 51 skipping and novel dystrophin protein production in Duchenne muscular dystrophy patients Charleston, J.
 2016
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246 Loss-of-function mutation of TRIP4 causes a novel form of congenital muscle disease and reveals the transcription coactivator ASC-1 as a new regulator of skeletal myogenesis Davignon, L.
 2016
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247 Lower muscle stiffness assessed with supersonic shear imaging is associated with more severe muscle impairments in patients with sporadic inclusion body myositis Bachasson, D.
 2016
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248 Manifesting heterozygotes in carnitine palmitoyltransferase (CPT) II deficiency Joshi, P.
 2016
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249 Marked clinical variability with FIG4 mutations presenting as acquired neuropathies Warman Chardon, J.
 2016
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2 p.
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250 McArdle disease mutations and polymorphisms Nogales-Gadea, G.
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251 Mechanisms of sarcopenia: Focus on mitochondria quality control and autophagy Sandri, M.
 2016
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252 MELAS, a first-ever tRNA modification disorder is alleviated by taurine supplementation therapy Sunada, Y.
 2016
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253 Metformin-induced deafness in mitochondrial disease Brady, S.
 2016
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254 MGEX: Myasthenia gravis and exercise, a randomised controlled trial protocol Birnbaum, S.
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255 MicroRNA regulation of the GNE gene Moshkovitz, I.
 2016
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2 p.
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256 Mild early epileptic encephalopathy evolving to spastic paraplegia, neurogenic bladder and generalized slow colon transit in an 18-year old patient with pathogenic mutations in FARS2 Vantroys, E.
 2016
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257 Mitochondrial dysfunction in the pathogenesis of oculopharyngeal muscular dystrophy Doki, T.
 2016
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258 Mobility shift of beta-dystroglycan combined with reduced laminin alpha2 expression is a marker of genetic defects in the GMPPB gene Torelli, S.
 2016
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259 Molecular diagnosis of genetic muscle disorders in New Zealand Rodrigues, M.
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260 Monosomy 18p: Risks for developing FSHD Goossens, R.
 2016
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261 Movement monitoring at home and during study visits identifies sources of variability in 6MWT performance in Duchenne muscular dystrophy Servais, L.
 2016
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262 MRC biobank Newcastle – A five-year review of the John Walton Muscular Dystrophy Research Centre experience Roos, A.
 2016
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263 MRI as a biomarker for DMD disease progression and implications for clinical trials Sweeney, H.
 2016
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264 MTM1-related myopathy carrier females manifest significant skeletal asymmetries and a spectrum of muscle involvement Reghan Foley, A.
 2016
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265 Multi-minicore myopathy without epidermolysis bullosa simplex: A new plectin phenotype Brady, L.
 2016
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266 Muscle atrophy and regeneration impairment of anti-SRP and anti-HMGCR Abs in necrotizing autoimmune myopathies Arouche-Delaperche, L.
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267 Muscle biopsies reprocessed for electron microscopy from paraffin blocks and frozen tissue produce material of sufficient quality for diagnostic use Timson, C.
 2016
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268 Muscle fibre size revisited: Updated age-stratified normative data in histologically normal/minimal change (HN/MC) paediatric quadriceps biopsies using a high-throughput automated digital script Feng, L.
 2016
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269 Muscle magnetic resonance imaging involvement in mitochondrial myopathy due to TK2 deficiency Sánchez-Montañez, A.
 2016
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270 Muscle microdialysis in facioscapulohumeral muscular dystrophy Tasca, G.
 2016
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271 Muscle MRI in neutral lipid storage disease (NLSD) Garibaldi, M.
 2016
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272 Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases Gallano, P.
 2016
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273 Myoclonic epilepsy with ragged red fibers syndrome mimicking myotonic dystrophy type 2: The need of genetic diagnosis Lusakowska, A.
 2016
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274 Myo-cytoblots: Quantification of dystrophin by in-cell western assay for a streamlined development of DMD treatments Ruiz-Del-Yerro, E.
 2016
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275 Myofibrillar myopathies with autophagic vacuoles: Report of a case series Ricci, G.
 2016
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276 Myopathy associated with anti-signal recognition particle antibodies; diagnosis and management in Egyptian patients: Case report El Sherif, R.
 2016
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277 Myotonic dystrophy type 1: Long term natural history data De Waele, L.
 2016
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278 Natural history of pulmonary function in steroid treated patients with Duchenne muscular dystrophy (DMD) Wong, B.
 2016
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279 Necrotizing myopathy, an ocular myasthenic syndrome and subclinical myocarditis associated with pembrolizumab treatment for metastatic melanoma Berfelo, F.
 2016
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280 Nemaline myopathy: Clinical, pathological, muscle imaging and molecular characterization in a cohort of Brazilian patients Gurgel-Giannetti, J.
 2016
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281 Nemaline myopathy related to HIV infection with a good response to immunosuppression Silva, A.
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282 Nesprinopathies: A wide clinical range of phenotypes and characteristic ultrastructural findings Kölbel, H.
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283 Neuroimaging signatures of alpha-dystroglycanopathies (ADG): A pictorial review Ardicli, D.
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284 Neuromuscular diseases: The mitochondrial involvement El-Khoury, R.
 2016
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285 Neuromyopathy with cataracts and glaucoma: A novel syndrome caused by recessive mutations in POLG1 Castiglioni, C.
 2016
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286 New advances in McArdle disease: Characterization of the p.R50X knock-in mouse model and evaluation of new therapeutic approaches Pinós, T.
 2016
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287 New criteria for assessing the achievement of upper limbs in FSHD patients Gasnier, E.
 2016
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288 New function of the myostatin/activin type I receptor (ALK4) as a mediator of muscle atrophy and muscle regeneration Pasteuning, S.
 2016
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289 Next generation sequencing for neuromuscular disease in a diagnostic setting – The Perth custom neuromuscular gene panel 3 years on Davis, M.
 2016
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290 NMR voxel-based morphometry and functional analysis as neural correlates of neuropsychological dysfunction in DM1 Siciliano, G.
 2016
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291 Normative data and reference equation for the six-minute walk test in healthy Caucasian boys aged 13–18 years Klingels, K.
 2016
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292 Novel GYG1 mutation causing late-onset polyglucosan body myopathy with nemaline rods Tasca, G.
 2016
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293 Novel homozygosity of c.1508insC mutation in DOK7 causes congenital myasthenia with variable severity Palmio, J.
 2016
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294 Novel mutation in TRIM32 is associated to a distal myopathy and disrupted myogenesis Servian-Morilla, E.
 2016
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295 N-terminal alpha dystroglycan (αDG-N): A potential serum biomarker for Duchenne muscular dystrophy Crowe, K.
 2016
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296 Nucleosides to treat mitochondrial DNA maintenance defects Martí, R.
 2016
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297 Oedematous myositis: An original subtype of autoimmune myopathy characterised by intense C5-b9 deposits Allenbach, Y.
 2016
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298 Omega-3 improves myoblast transplantation and modulates Notch and Wnt signaling in the mdx mouse model of DMD de Carvalho, S.
 2016
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299 OPALE: A patient registry for laminopathies and emerinopathies in France Yaou, R. Ben
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300 Optimizing dystrophin quantification in DMD and BMD patients: A new semi-automated acquisition and analysis method Sardone, V.
 2016
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301 ORAI1 mutations cause abnormal channel gating in tubular aggregate myopathy Böhm, J.
 2016
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302 Orofacial problems in patients with Duchenne muscular dystrophy and spinal muscular atrophy Werlauff, U.
 2016
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303 Osteoprotegerin full length protein mitigates muscular dystrophy in fast-twitch skeletal muscles Dufresne, S.
 2016
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304 Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials Domingos, J.
 2016
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305 Pain and fatigue in manifesting carriers of Duchenne and Becker muscular dystrophy Drivsholm, P.
 2016
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306 Pain and motor function in patients with inclusion body myositis Carneiro, M.
 2016
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307 Paravertebral muscles in adolescent idiopathic scoliosis: mRNA expression of melatonin receptors 1A/1B, calmodulin, and estrogen receptor-2 Zamecnik, J.
 2016
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308 Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families Van Coster, R.
 2016
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309 Pathologically and genetically diagnosed familial amyloid polyneuropathy Kim, M.
 2016
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310 Pathology of criocopharyngeal muscles in oculopharyngeal muscular dystrophy (OPMD): A quantitative histological and histochemical study Rivas, E.
 2016
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311 Patient participation in development of upper limb exercise study in facioscapulohumeral dystrophy Kulshrestha, R.
 2016
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312 Pattern analysis in Korean patients with distal myopathy using lower-limb MRI Park, H.
 2016
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313 PCR-restriction-based strategies allow genotyping without sequencing of several allelic variants of the mdx mouse that carry point mutations Neff, L.
 2016
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314 Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl–coenzyme a reductase antibodies Liang, W.
 2016
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315 Pediatric onset of mitochondrial myopathy due to ANT1 mutation Martinez-Saez, E.
 2016
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316 Pediatric presentation of Marinesco–Sjögren syndrome with a novel SIL1 mutation in two siblings Kaçar Bayram, A.
 2016
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317 P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye Zou, Y.
 2016
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318 Pharmacokinetics of 21-desacetyldeflazacort and the safety of deflazacort after oral administration to children and adolescents with Duchenne muscular dystrophy Wanaski, S.
 2016
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319 Phase 2 open-label extension study of patisiran, an investigational siRNA agent for hereditary ATTR amyloidosis with polyneuropathy (hATTR-PN) Conceicao, I.
 2016
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320 Phase 2 study design of antisense oligonucleotide nusinersen in presymptomatic infants with spinal muscular atrophy Bertini, E.
 2016
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321 Pilot data evaluating the utility of ACTIVE-mini as a biomarker in spinal muscular atrophy type 1 Alfano, L.
 2016
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1 p.
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322 Pompe disease in patients with undetermined myopathies or asymptomatic hyperCKemia: Searching for late-onset Pompe disease in Aegean region of Turkey Karasoy, H.
 2016
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1 p.
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323 Positive detection of anti-NXP2 autoantibodies correlates with muscle ischemia in juvenile dermatomyositis Aouizerate, J.
 2016
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2 p.
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324 Potential mechanisms for prolonged loss of ambulation with deflazacort in Duchenne muscular dystrophy – Tolerability profile and effects on growth Meyer, J.
 2016
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325 Potential therapeutic action of adiponectin in Duchenne muscular dystrophy Abou-Samra, M.
 2016
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326 Prednisolone therapy reduces incidence of mononuclear T-cell infiltrates after AAV transduction of GALGT2 in the rhesus macaque Cramer, M.
 2016
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2 p.
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327 Prevalence of genetic muscle disorders (MD-Prev): A national, population-based study Theadom, A.
 2016
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1 p.
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328 Prevalence study of muscle channelopathies in Italy Maggi, L.
 2016
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1 p.
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329 Prevention and treatment of scoliosis by Garches brace in type I SMA patients (non sitters) surviving through childhood Sauvagnac-Quera, R.
 2016
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1 p.
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330 Prolonged benefit from systemic rAAV8 in a canine model of myotubular myopathy Elverman, M.
 2016
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331 Promoting meaningful clinical trial outcome measures for Duchenne muscular dystrophy Peay, H.
 2016
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332 Proteasomal proteolysis is indispensable for the maintenance of skeletal muscle and muscle stem cells Suzuki, N.
 2016
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1 p.
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333 Proteomic characterization of polyglucosan bodies in patients with RBCK1 deficiency Thomsen, C.
 2016
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334 Qualitative comparison of healthy versus affected muscles by ultrasound imaging in RYR1-related myopathies Razaqyar, M.
 2016
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335 Quality of care in the first neuromuscular complex care centre in the UK from the patients' perspective Nastasi, L.
 2016
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1 p.
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336 Quantitative assessment of muscle involvement in limb girdle muscular dystrophy 2B Nakayama, S.
 2016
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1 p.
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337 Quantitative magnetic resonance imaging in late-onset Pompe disease: A prospective observational study of 19 patients Figueroa-Bonaparte, S.
 2016
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1 p.
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338 Radiologically confirmed fractures in a Scottish nationwide cohort of boys with Duchenne muscular dystrophy Joseph, S.
 2016
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2 p.
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339 RD-Connect: Data sharing and analysis for rare disease research within the integrated platform and through GA4GH beacon and matchmaker exchange Roos, A.
 2016
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2 p.
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340 Recurrent de novo BICD2 mutation associated with severe arthrogryposis and polymicrogyria: Expanding the phenotype Ravenscroft, G.
 2016
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2 p.
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341 Recurrent respiratory failure in a patient with nemaline and myofibrillar myopathy features Braksick, S.
 2016
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1 p.
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342 Relative bioavailability of 21-desacetyldeflazacort after oral administration of various deflazacort formulations and dosing conditions in healthy volunteer subjects Wanaski, S.
 2016
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1 p.
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343 Renal impairment in two patients with Duchenne muscular dystrophy Alhaswani, Z.
 2016
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1 p.
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344 Repetitive nerve stimulation as electrophysiologic biomarker in muscle cramps Shin, J.
 2016
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1 p.
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345 Research for the pathogenesis and therapy of dysferlinopathy using proteomics approach Ono, H.
 2016
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2 p.
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346 Respiratory function in eteplirsen-treated Duchenne muscular dystrophy (DMD) patients compared to natural history Kinane, B.
 2016
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1 p.
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347 Restoration of dystrophin expression and motor function in using exosomes-based non-immunogenic genetic therapy Saleem, A.
 2016
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2 p.
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348 Results of North Star ambulatory assessments in the phase 3 ataluren confirmatory trial in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD) Muntoni, F.
 2016
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2 p.
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349 Reversing mdx cardiomyocyte hypertrophy in vitro Carr, S.
 2016
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2 p.
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350 Revised Hammersmith scale for spinal muscular atrophy: Longitudinal changes over six and twelve months in a large international cohort Ramsey, D.
 2016
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1 p.
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351 Revised North Star ambulatory assessment for young boys with Duchenne muscular dystrophy Mercuri, E.
 2016
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1 p.
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352 Riboflavin transporter deficiency diagnosed 30 years after onset of symptoms van der Kooi, A.
 2016
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1 p.
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353 Rituximab for the treatment of anti-HMGCR necrotizing autoimmune myopathy Landon-Cardinal, O.
 2016
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1 p.
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354 RNA profiling discloses a link between circadian genes and muscle damage in Duchenne muscular dystrophy Armaroli, A.
 2016
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2 p.
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355 Rolled cake sign in calpain related myopathies Buendía, J.
 2016
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1 p.
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356 Russian experience of DMD genetic database Vlodavets, D.
 2016
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1 p.
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357 Ryanodine receptor type 3 (RYR3) as a novel gene associated with nemaline myopathy and fibre type disproportion Nilipour, Y.
 2016
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1 p.
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358 Ryanodine-related myopathies: Clinical, histopathologic and genetic heterogeneity among 16 patients from a Portuguese tertiary centre Samões, R.
 2016
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2 p.
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359 Sarcomere structure and mechanics in nemaline myopathy: A developing story Ottenheijm, C.
 2016
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1 p.
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360 Sarcomeric disease – From defective genes to animal models and evaluating therapies Nowak, K.
 2016
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1 p.
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361 Sarcomeric signalling proteins: Hubs for mechanosensation and hotspots for inherited myopathies Gautel, M.
 2016
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1 p.
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362 Schisandrae fructus enhances myogenic differentiation and inhibits atrophy through protein synthesis in human myotubes Kim, H.
 2016
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1 p.
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363 Screening for late onset Pompe disease – Single center experience Kostera-Pruszczyk, A.
 2016
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1 p.
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364 Screening for LRP4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis Cordts, I.
 2016
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1 p.
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365 Second generation utrophin modulator for the treatment of Duchenne muscular dystrophy Guiraud, S.
 2016
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1 p.
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366 Selection of reference genes for normalisation of dystrophin mRNA RT-qPCR data Garcia-Jimenez, I.
 2016
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2 p.
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367 Serial fat fraction analysis using quantitative magnetic resonance imaging using T2*-corrected 6-echo dixon sequence in a late onset Pompe disease patient with enzyme replacement therapy for 18 months Lee, J.
 2016
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1 p.
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368 Serum biomarker discovery for congenital muscular dystrophies Bharucha-Goebel, D.
 2016
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1 p.
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369 Serum IGF1 and IGFBP3 levels in SMA patients Yesbek Kaymaz, A.
 2016
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1 p.
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370 Serum pro-inflammatory proteins have potential utility as biomarkers for NF-kB targeting approaches in DMD Bista, P.
 2016
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1 p.
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371 Severe autosomal recessive congenital hypomyelinating neuropathy causing death in the first four months of life Cabrera, M.
 2016
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2 p.
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372 Severe axial muscular involvement in Laing distal myopathy with a thumbprint finding on MRI Dabaj, I.
 2016
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2 p.
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373 Severe cardiopathy in a patient with a new mutation of the fukutin gene with limb girdle phenotype Juntas Morales, R.
 2016
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1 p.
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374 Severe congenital myopathy with myasthenic features and lethal neurodegeneration – A new ALG14-related phenotype? Korinthenberg, R.
 2016
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1 p.
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375 Severe late onset mitochondrial myopathy caused by TK2 mutations Gil, E. Vergés
 2016
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1 p.
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376 Severe Walker–Warburg syndrome associated with new mutation in ISPD gene identified with whole exome sequencing Kaçar Bayram, A.
 2016
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1 p.
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377 Should motor function determine the timing of scoliosis surgery in spinal muscular atrophy? Dunaway Young, S.
 2016
 26 S2 p. S104-
1 p.
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378 Sialylation-increasing therapies for GNE myopathy Huizing, M.
 2016
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1 p.
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379 Signal abnormalities of muscle and fascia in muscular MRI imaging at pretreatment stage in children with juvenile dermatomyositis Ishiyama, A.
 2016
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1 p.
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380 Simultaneous MFN2 and GDAP1 gene mutation cause severe Charcot–Marie–Tooth type 2 phenotype Anghelescu, C.
 2016
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1 p.
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381 Skeletal muscle oxygenation in adults with RYR1-related myopathies: Exploratory study Witherspoon, J.
 2016
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1 p.
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382 SMA subtype concordance in siblings: Findings from the cure SMA cohort Jones, C.
 2016
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1 p.
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383 S-nitrosylation of muscle contractile proteins and metabolic enzymes causes muscle atrophy and weakness in GNE myopathy Miyakawa, M.
 2016
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2 p.
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384 Solving a puzzle: Incidentally detected high creatine kinase level combined with a family history of cardiomyopathy and sudden unexplained death leading to diagnosis of LMNA mutation Genc, H. Maras
 2016
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2 p.
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385 Spectrin repeat-containing nuclear envelope protein 2: SYNE2 presenting as a congenital myopathy: A case report Bamaga, A.
 2016
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1 p.
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386 Sporadic inclusion body myositis and HLA associations in a multi-ethnic Asian population Ambang, T.
 2016
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1 p.
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387 Sporadic late-onset nemaline myopathy in an aged patient Morgado Linares, R.
 2016
 26 S2 p. S150-
1 p.
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388 Stabilised alpha helical peptides: A novel platform for enhanced antisense oligonucleotide delivery Eilers, W.
 2016
 26 S2 p. S128-
1 p.
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389 Study of myogenic potential of extra cellular vesicles in murine models for muscular dystrophies Ayub-Guerrieri, D.
 2016
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390 21st WMS Congress – 2016 – Program 2016
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32 p.
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391 21st WMS Congress – 2016 – Program (Summary) 2016
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3 p.
 artikel
392 Systemic microangiopathy in Leber's hereditary optic neuropathy with nt 13708 and nt 3394 mutations Lach, B.
 2016
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1 p.
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393 Table of location of abstract topics (“The Tomé Table”) 2016
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1 p.
 artikel
394 Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease Ballester-Lopez, A.
 2016
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1 p.
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395 Targeted next-generation sequencing as a diagnostic tool in neuromuscular disorders Lehtinen, S.
 2016
 26 S2 p. S162-
1 p.
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396 Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS) Chamova, T.
 2016
 26 S2 p. S107-S108
2 p.
 artikel
397 Targeted treatment for SMA: New opportunities and challenges Finkel, R.
 2016
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1 p.
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398 TBK1 exists with optineurin around rimmed vacuoles Kurashige, T.
 2016
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2 p.
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399 Tele-Assistance in pediatric neuromuscular disorders requiring home mechanical ventilation, multicentric study Trucco, F.
 2016
 26 S2 p. S148-S149
2 p.
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400 The ASCC1 gene is involved in spinal muscular atrophy with congenital fractures: Evidence provided by the identification of a second case Oliveira, J.
 2016
 26 S2 p. S106-
1 p.
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401 The brain diffusion tensor and voxel based morphometry imaging correlates with the phenotypic severity in myotonic dystrophy type 1 Park, J.
 2016
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2 p.
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402 The development of new equations to estimate ventilator setting in patients with neuromuscular disease Park, D.
 2016
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1 p.
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403 The Duchenne connect experience with a pain interference patient reported outcome measure Lucas, A.
 2016
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1 p.
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404 The energetic study: Effectiveness of a self-management group programme to improve social participation in patients with neuromuscular disease and chronic fatigue Veenhuizen, Y.
 2016
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1 p.
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405 The expanding phenotype of LAMA2-related muscular dystrophies: Four additional cases diagnosed during adulthood Oliveira, J.
 2016
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1 p.
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406 The genetic panorama in titin gene by re-sequencing projects Savarese, M.
 2016
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1 p.
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407 The interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 is altered in GNE myopathy M743T mutant Harazi, A.
 2016
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1 p.
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408 The 24-month performance of upper limb (PUL) scale: Changes and steroids correlation in DMD Mercuri, E.
 2016
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1 p.
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409 The MYO-SEQ project: Application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin Johnson, K.
 2016
 26 S2 p. S161-
1 p.
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410 The natural history of the North Star Ambulatory Assessment (NSAA) in patients with Duchenne muscular dystrophy with skippable mutations Domingos, J.
 2016
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1 p.
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411 The natural history of type 1 spinal muscular atrophy in Taiwan Ou, S.
 2016
 26 S2 p. S103-
1 p.
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412 The novel STIM1 mutation with tubular aggregate myopathy and its pathogenicity Lee, J.
 2016
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1 p.
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413 The pathogenesis of dermatomyositis associated to MDA5 autoantibodies: An in vitro and in vivo study Suárez-Calvet, X.
 2016
 26 S2 p. S145-S146
2 p.
 artikel
414 The profile and natural history of congenital muscular dystrophies Ardicli, D.
 2016
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1 p.
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415 Therapeutic development of ManNAc for GNE myopathy Carrillo, N.
 2016
 26 S2 p. S172-
1 p.
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416 The relationship between postural alignment and physical performance in boys with Duchenne muscular dystrophy Bozgeyik, S.
 2016
 26 S2 p. S123-
1 p.
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417 The utility of immunohistochemistry in the assessment of myopathies with tubular aggregates and cylindrical spirals Brady, S.
 2016
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2 p.
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418 Tissue-Selective Androgen Receptor Modulators (SARMs) for the treatment of Duchenne muscular dystrophy (DMD) Ponnusamy, S.
 2016
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1 p.
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419 Titin gene mutations presenting as centronuclear myophathies Juntas Morales, R.
 2016
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1 p.
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420 Titinopathies – Establishment of an international database of TTN mutations and their phenotypes Hackman, P.
 2016
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1 p.
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421 Titin-related myopathies: An emerging and growing group of striated muscle diseases Ferreiro, A.
 2016
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1 p.
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422 Title 2016
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1 p.
 artikel
423 Toward an appropriate neuropsychological assessment protocol for children with myotonic dystrophy type 1 Geuens, S.
 2016
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1 p.
 artikel
424 Toward generating new dystrophic mouse mutants by homologous recombination using dimeric RNA-guided FokI-dCas9 nucleases Neff, L.
 2016
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1 p.
 artikel
425 Transcriptome profiling identifies key pathways important in collagen VI related muscular dystrophies including differences between patients with dominant negative vs. null mutations Butterfield, R.
 2016
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2 p.
 artikel
426 Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools Scotton, C.
 2016
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2 p.
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427 Transduce: The importance of a multidisciplinary outpatient transition in adolescents and young adults with Duchenne muscular dystrophy Groothuis, J.
 2016
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1 p.
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428 Translational development of rimeporide, a sodium-hydrogen exchanger (NHE-1) inhibitor, for patients with Duchenne muscular dystrophy Porte Thomé, F.
 2016
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1 p.
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429 Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy Buyse, G.
 2016
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2 p.
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430 TRPV4 gene polymorphism as a phenotype modifier in a family with COL6-linked Bethlem myopathy Leonard-Louis, S.
 2016
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1 p.
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431 TRPV2 inhibition therapy can be effective for cardiomyopathy of muscular dystrophy Matsumura, T.
 2016
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2 p.
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432 Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1 Saito, F.
 2016
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1 p.
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433 Tubular aggregate myopathy with miosis caused by a novel mutation in ORAI1 Garibaldi, M.
 2016
 26 S2 p. S193-
1 p.
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434 Two new cases of mitochondrial myopathy with exercise intolerance, lactic acidosis and cardiomyopathy, caused by recessive SLC25A4 mutations Tosserams, A.
 2016
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1 p.
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435 Two novel BICD2 mutations occurring de novo in sporadic Finnish SMALED2 patients Penttilä, S.
 2016
 26 S2 p. S106-
1 p.
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436 Two recent pediatric cases of severe polio-like paralysis caused by enterovirus D68 infection in Spain Gomez-Garcia de la Banda, M.
 2016
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1 p.
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437 Unmet needs of people living with myotonic dystrophy: Data from a national, population-based study Theadom, A.
 2016
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1 p.
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438 Upper and lower extremity muscle strength decline over 1 year in a prospective, observational GNE-myopathy natural history study Tarnopolsky, M.
 2016
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2 p.
 artikel
439 Utrophin immunohistochemical expression in neuromuscular disorders Avila-Polo, R.
 2016
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1 p.
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440 Utrophin modulation for the treatment of cardiomyopathy in mdx mice Burns, D.
 2016
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1 p.
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441 Utrophin modulators significantly improve the muscular dystrophy in the mdx diaphragm Guiraud, S.
 2016
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2 p.
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442 Validation of ACTIVE with the PROMIS patient-reported measure of upper extremity function in males with Duchenne muscular dystrophy Miller, N.
 2016
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1 p.
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443 Validation of FACIT-F and MFI-20 questionnaires in individuals with RYR1-RM Arveson, I.
 2016
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2 p.
 artikel
444 Variable skeletal muscle involvement in VARS2 mitochondrial encephalomyopathy Millan, B. San
 2016
 26 S2 p. S178-
1 p.
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445 Variations in Duchenne muscular dystrophy clinical course in a multi-ethnic UK population: Are there potential influencing factors other than genetic modifiers? Roper, H.
 2016
 26 S2 p. S97-
1 p.
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446 Virtual reality computer gaming with dynamic arm support is safe and feasible in boys with Duchenne muscular dystrophy Heutinck, L.
 2016
 26 S2 p. S125-
1 p.
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447 Vision DMD: Vamorolone drug development program for Duchenne muscular dystrophy Guglieri, M.
 2016
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1 p.
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448 Welcome to the World Muscle Society Congress in Granada Dubowitz, Victor
 2016
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2 p.
 artikel
449 What motivates patients' relatives to undergo genetic testing in search of a pathogenic mutation? Forbes, J.
 2016
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1 p.
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450 Would myosin be a good therapeutic target for nemaline myopathy? Ochala, J.
 2016
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1 p.
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451 X-linked myotubular myopathy in ambulant patients Annoussamy, M.
 2016
 26 S2 p. S116-
1 p.
 artikel
                             451 gevonden resultaten
 
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