nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A case of inflammatory myopathy in graft vs host disease - A potential role for ibrutinib
|
Wilkinson, Michael |
|
|
|
9 |
p. 865-869 |
artikel |
2 |
Accuracy of muscle fasciculations for the diagnosis of later-onset spinal muscle atrophy
|
dos Santos, Marco Antonnio Rocha |
|
|
|
9 |
p. 763-768 |
artikel |
3 |
A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene
|
Plewa, Jake |
|
2018 |
|
9 |
p. 778-786 |
artikel |
4 |
Adult-type dermatomyositis with secondary lymphoid follicles harbouring reactive B-cells component
|
Maghrabi, Yazid |
|
|
|
9 |
p. 881-885 |
artikel |
5 |
Advances in the diagnosis and management of cardiomyopathy in Duchenne muscular dystrophy
|
Hor, Kan N. |
|
2018 |
|
9 |
p. 711-716 |
artikel |
6 |
A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy
|
Hamaguchi, Mai |
|
|
|
9 |
p. 727-731 |
artikel |
7 |
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA
|
Coratti, Giorgia |
|
|
|
9 |
p. 756-764 |
artikel |
8 |
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre
|
Wong, Wui-Kwan |
|
|
|
9 |
p. 707-717 |
artikel |
9 |
An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles
|
Furuta, Mitsuru |
|
2016 |
|
9 |
p. 593-597 5 p. |
artikel |
10 |
An integrated modelling methodology for estimating the prevalence of centronuclear myopathy
|
Vandersmissen, I. |
|
2018 |
|
9 |
p. 766-777 |
artikel |
11 |
Anna Fidzianska (1930–2015)
|
Kaminska, Anna |
|
2016 |
|
9 |
p. 634-635 2 p. |
artikel |
12 |
A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot–Marie–Tooth disease with irregularly folded myelin sheaths
|
Nelis, Eva |
|
2002 |
|
9 |
p. 869-873 5 p. |
artikel |
13 |
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy
|
Hellebrekers, Debby M.E.I. |
|
2019 |
|
9 |
p. 693-697 |
artikel |
14 |
A rare case of sporadic inclusion body myositis and rheumatoid arthritis exhibiting ectopic lymphoid follicle-like structures: a case report and literature review
|
Konomatsu, Kazutoshi |
|
|
|
9 |
p. 870-876 |
artikel |
15 |
A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality
|
Chan, Sophelia Hoi Shan |
|
2018 |
|
9 |
p. 750-756 |
artikel |
16 |
Assessment of muscle involvement in patients with Duchenne muscular dystrophy via segmental multifrequency bioelectrical analysis
|
Kuru, Satoshi |
|
2019 |
|
9 |
p. 671-677 |
artikel |
17 |
Assessment of the upper limb muscles in patients with Fukuyama muscular dystrophy: Noninvasive assessment using visual ultrasound muscle analysis and shear wave elastography
|
Harada, Risa |
|
|
|
9 |
p. 754-762 |
artikel |
18 |
Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study
|
Caria, Filomena |
|
2019 |
|
9 |
p. 657-663 |
artikel |
19 |
A validated WAIS-IV short-form to estimate intellectual functioning in myotonic dystrophy type 1
|
Garmendia, Joana |
|
|
|
9 |
p. 749-753 |
artikel |
20 |
A web-based questionnaire survey on the influence of coronavirus disease-19 on the care of patients with muscular dystrophy
|
Matsumura, Tsuyoshi |
|
|
|
9 |
p. 839-846 |
artikel |
21 |
A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review
|
Mori-Yoshimura, Madoka |
|
|
|
9 |
p. 769-773 |
artikel |
22 |
BAG3 myopathy is not always associated with cardiomyopathy
|
Andersen, Annarita Ghosh |
|
2018 |
|
9 |
p. 798-801 |
artikel |
23 |
Book review
|
Wijesekera, Lokesh |
|
2015 |
|
9 |
p. 747- 1 p. |
artikel |
24 |
Brain involvement in Charcot–Marie–Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation
|
Al-Ghamdi, Fouad |
|
2017 |
|
9 |
p. 848-851 4 p. |
artikel |
25 |
Cancer detection after a 9-year course of Lambert-Eaton myasthenic syndrome complicated by anti-Hu associated limbic encephalitis
|
Falso, Silvia |
|
|
|
9 |
p. 90-92 |
artikel |
26 |
Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients
|
Srinivasan, Ranjini |
|
|
|
9 |
p. 742-749 |
artikel |
27 |
Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy
|
Mercuri, Eugenio |
|
2016 |
|
9 |
p. 576-583 8 p. |
artikel |
28 |
Characterization of Danon disease in a male patient and his affected mother
|
Sugie, Kazuma |
|
2003 |
|
9 |
p. 708-711 4 p. |
artikel |
29 |
Child Neurology, Sixth Edition
|
Nicolaides, P |
|
2002 |
|
9 |
p. 905- 1 p. |
artikel |
30 |
Chronic inflammatory demyelinating polyneuropathy: Plasmapheresis or cyclosporine can be good treatment options in refractory cases
|
Kim, WooJoong |
|
2019 |
|
9 |
p. 684-692 |
artikel |
31 |
Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study
|
Yunisova, Gulshan |
|
|
|
9 |
p. 718-727 |
artikel |
32 |
Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations
|
Sun, J. |
|
|
|
9 |
p. 829-838 |
artikel |
33 |
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
|
Pedurupillay, Christeen Ramane J. |
|
2016 |
|
9 |
p. 570-575 6 p. |
artikel |
34 |
Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation
|
Claeys, Thomas |
|
|
|
9 |
p. 709-718 |
artikel |
35 |
Clinical Evaluation and Diagnostic Tests for Neuromuscular Disorders
|
Poppe, M. |
|
2003 |
|
9 |
p. 765- 1 p. |
artikel |
36 |
Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy
|
Silwal, A. |
|
2018 |
|
9 |
p. 757-765 |
artikel |
37 |
Cognitive assessment in patients with myotonic dystrophy type 2
|
Peric, Stojan |
|
|
|
9 |
p. 743-748 |
artikel |
38 |
Commonality amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy
|
Fuller, Heidi R. |
|
2016 |
|
9 |
p. 560-569 10 p. |
artikel |
39 |
Comparison of maximal voluntary isometric contraction and hand-held dynamometry in measuring muscle strength of patients with progressive lower motor neuron syndrome
|
Visser, J |
|
2003 |
|
9 |
p. 744-750 7 p. |
artikel |
40 |
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains
|
Harris, Elizabeth |
|
2017 |
|
9 |
p. 861-872 12 p. |
artikel |
41 |
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
|
Sframeli, Maria |
|
2017 |
|
9 |
p. 793-803 11 p. |
artikel |
42 |
Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III
|
Decostre, Valérie |
|
2016 |
|
9 |
p. 584-592 9 p. |
artikel |
43 |
Cystinosis distal myopathy, novel clinical, pathological and genetic features
|
Cabrera-Serrano, Macarena |
|
2017 |
|
9 |
p. 873-878 6 p. |
artikel |
44 |
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation
|
Lacoste-Collin, Laetitia |
|
2002 |
|
9 |
p. 882-885 4 p. |
artikel |
45 |
Detection of glucocorticoid-like activity in traditional Chinese medicine used for the treatment of Duchenne muscular dystrophy
|
Courdier-Fruh, Isabelle |
|
2003 |
|
9 |
p. 699-704 6 p. |
artikel |
46 |
DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene
|
Dolinsky, Luciana C.B |
|
2002 |
|
9 |
p. 845-848 4 p. |
artikel |
47 |
Diagnosis and Management of Peripheral Nerve Disorders
|
Reilly, Mary |
|
2002 |
|
9 |
p. 905-906 2 p. |
artikel |
48 |
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome
|
Bobadilla-Quesada, Edna Julieth |
|
|
|
9 |
p. 719-726 |
artikel |
49 |
Early onset of cardiomyopathy in two brothers with X-linked Emery–Dreifuss muscular dystrophy
|
Talkop, Ülvi-Astra |
|
2002 |
|
9 |
p. 878-881 4 p. |
artikel |
50 |
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects
|
Ullmann, Urielle |
|
2018 |
|
9 |
p. 741-749 |
artikel |
51 |
Editorial Board
|
|
|
|
|
9 |
p. IFC |
artikel |
52 |
Editorial Board
|
|
|
2003 |
|
9 |
p. IFC- 1 p. |
artikel |
53 |
Editorial Board
|
|
|
2002 |
|
9 |
p. IFC- 1 p. |
artikel |
54 |
Editorial Board
|
|
|
2017 |
|
9 |
p. CO2- 1 p. |
artikel |
55 |
Editorial Board
|
|
|
2015 |
|
9 |
p. CO2- 1 p. |
artikel |
56 |
Editorial Board
|
|
|
2016 |
|
9 |
p. CO2- 1 p. |
artikel |
57 |
Editorial Board
|
|
|
2018 |
|
9 |
p. IFC |
artikel |
58 |
Editorial Board
|
|
|
2019 |
|
9 |
p. IFC |
artikel |
59 |
Editorial Board
|
|
|
|
|
9 |
p. IFC |
artikel |
60 |
Editorial Board
|
|
|
|
|
9 |
p. IFC |
artikel |
61 |
Editorial Board
|
|
|
|
|
9 |
p. IFC |
artikel |
62 |
Evaluation of coexisting polymyositis in feline myasthenia gravis: A case series
|
Mayousse, Vincent |
|
2017 |
|
9 |
p. 804-815 12 p. |
artikel |
63 |
Exogenous Dp71 is a dominant negative competitor of dystrophin in skeletal muscle
|
Leibovitz, Sigalit |
|
2002 |
|
9 |
p. 836-844 9 p. |
artikel |
64 |
Exome sequencing identifies targets in the treatment-resistant ophthalmoplegic subphenotype of myasthenia gravis
|
Nel, Melissa |
|
2017 |
|
9 |
p. 816-825 10 p. |
artikel |
65 |
Expiratory muscle strength training improves measures of pressure generation and cough strength in a patient with myotonic dystrophy type 1
|
Allen, Jodi |
|
|
|
9 |
p. 750-755 |
artikel |
66 |
Exploring the influence of smoking and alcohol consumption on clinical severity in patients with facioscapulohumeral muscular dystrophy
|
Vincenten, Sanne C.C. |
|
|
|
9 |
p. 824-828 |
artikel |
67 |
Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement
|
Uncini, A. |
|
2002 |
|
9 |
p. 874-877 4 p. |
artikel |
68 |
Fatal disseminated Anncaliia algerae myositis mimicking polymyositis in an immunocompromised patient
|
Ziad, Fouzia |
|
|
|
9 |
p. 877-880 |
artikel |
69 |
Fibrogenic cytokines and extent of fibrosis in muscle of dogs with X-linked golden retriever muscular dystrophy
|
Passerini, Laura |
|
2002 |
|
9 |
p. 828-835 8 p. |
artikel |
70 |
Functional domains of the nucleus: implications for Emery–Dreifuss muscular dystrophy
|
Maraldi, N.M |
|
2002 |
|
9 |
p. 815-823 9 p. |
artikel |
71 |
Gain and loss of abilities in type II SMA: A 12-month natural history study
|
Coratti, Giorgia |
|
|
|
9 |
p. 765-771 |
artikel |
72 |
Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1
|
Tazir, M |
|
2002 |
|
9 |
p. 849-852 4 p. |
artikel |
73 |
Glycogen accumulation in GNE myopathy
|
Granger, Andre |
|
|
|
9 |
p. 774-775 |
artikel |
74 |
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels
|
Oliwa, Agata |
|
|
|
9 |
p. 98-105 |
artikel |
75 |
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation
|
Chamova, Teodora |
|
2015 |
|
9 |
p. 713-718 6 p. |
artikel |
76 |
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male
|
Hedberg-Oldfors, Carola |
|
2017 |
|
9 |
p. 843-847 5 p. |
artikel |
77 |
Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update
|
Chrestian, Nicolas |
|
2015 |
|
9 |
p. 693-698 6 p. |
artikel |
78 |
Heterogeneity and shifts in distribution of muscle weakness in myasthenia gravis
|
de Meel, Robert H.P. |
|
2019 |
|
9 |
p. 664-670 |
artikel |
79 |
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum
|
Musumeci, Olimpia |
|
2015 |
|
9 |
p. 719-724 6 p. |
artikel |
80 |
HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy
|
Fu, Xiaona |
|
|
|
9 |
p. 81-89 |
artikel |
81 |
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease
|
Ammar, Nadia |
|
2003 |
|
9 |
p. 720-728 9 p. |
artikel |
82 |
Imaging the heart to detect cardiomyopathy in Duchenne muscular dystrophy: A review
|
Power, Lisa C. |
|
2018 |
|
9 |
p. 717-730 |
artikel |
83 |
Inclusion body myositis: morphological clues to correct diagnosis
|
Dahlbom, K. |
|
2002 |
|
9 |
p. 853-857 5 p. |
artikel |
84 |
Inclusion body myositis with granuloma formation in muscle tissue
|
Sakai, Kenji |
|
2015 |
|
9 |
p. 706-712 7 p. |
artikel |
85 |
Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy
|
Wang, Haicui |
|
2017 |
|
9 |
p. 836-842 7 p. |
artikel |
86 |
Instructions to Authors
|
|
|
2003 |
|
9 |
p. 768-769 2 p. |
artikel |
87 |
Instructions to authors
|
|
|
2002 |
|
9 |
p. 907-908 2 p. |
artikel |
88 |
Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report
|
Gu, Xinyu |
|
|
|
9 |
p. 93-97 |
artikel |
89 |
Involvement of 3Na+/2K+ ATP-ase and Pi-3 kinase in the response of skeletal muscle ATP-sensitive K+ channels to insulin
|
Tricarico, Domenico |
|
2003 |
|
9 |
p. 712-719 8 p. |
artikel |
90 |
Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype–genotype correlation
|
Takayama, Kazuko |
|
2016 |
|
9 |
p. 604-609 6 p. |
artikel |
91 |
Juvenile dermatomyositis forty years on: Case report
|
Rego de Figueiredo, Inês |
|
2018 |
|
9 |
p. 791-797 |
artikel |
92 |
Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene
|
Ferbert, A. |
|
2016 |
|
9 |
p. 598-603 6 p. |
artikel |
93 |
Leadless intracardiac transcatheter pacing system: 20 months follow up in adult Duchenne muscular dystrophy
|
Fayssoil, Abdallah |
|
|
|
9 |
p. 896-898 |
artikel |
94 |
Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy
|
Wang, Leo H. |
|
|
|
9 |
p. 63-68 |
artikel |
95 |
Long-term follow-up of motor function and muscle strength in the congenital and childhood forms of myotonic dystrophy type 1
|
Kroksmark, Anna-Karin |
|
2017 |
|
9 |
p. 826-835 10 p. |
artikel |
96 |
Looking under every rock: Duchenne muscular dystrophy and traditional Chinese medicine
|
Andoni Urtizberea, J. |
|
2003 |
|
9 |
p. 705-707 3 p. |
artikel |
97 |
Magnetic resonance imaging findings of the lower limb muscles in anti-mitochondrial M2 antibody-positive myositis
|
Nomiya, Hirotaka |
|
|
|
9 |
p. 74-80 |
artikel |
98 |
Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study
|
Domínguez-González, Cristina |
|
|
|
9 |
p. 728-735 |
artikel |
99 |
Misdiagnosis is an important factor for diagnostic delay in McArdle disease
|
Scalco, Renata Siciliani |
|
2017 |
|
9 |
p. 852-855 4 p. |
artikel |
100 |
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA
|
Karadimas, Charalampos L |
|
2002 |
|
9 |
p. 865-868 4 p. |
artikel |
101 |
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families
|
Hadjigeorgiou, Georgios M |
|
2002 |
|
9 |
p. 824-827 4 p. |
artikel |
102 |
Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease
|
Perniconi, Barbara |
|
2016 |
|
9 |
p. 610-613 4 p. |
artikel |
103 |
Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation
|
Chandrasekharan, Soumya V. |
|
|
|
9 |
p. 886-890 |
artikel |
104 |
252nd ENMC international workshop: Developing best practice guidelines for management of mouthpiece ventilation in neuromuscular disorders. March 6th to 8th 2020, Amsterdam, the Netherlands
|
Chatwin, Michelle |
|
|
|
9 |
p. 772-781 |
artikel |
105 |
Neuromuscular Disorders at 30
|
Dubowitz, Victor |
|
|
|
9 |
p. 707 |
artikel |
106 |
Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients
|
Cumbo, Francesca |
|
|
|
9 |
p. 736-742 |
artikel |
107 |
Normalization of sonographical multifocal nerve enlargements in a MADSAM patient following a good clinical response to intravenous immunoglobulin
|
Tanaka, Kanta |
|
2016 |
|
9 |
p. 619-623 5 p. |
artikel |
108 |
[No title]
|
Ambegaonkar, Gautam |
|
2016 |
|
9 |
p. 636- 1 p. |
artikel |
109 |
[No title]
|
Jungbluth, Heinz |
|
2015 |
|
9 |
p. 746- 1 p. |
artikel |
110 |
Nutritional rickets masquerading as spinal muscular atrophy type III
|
Patel, Rutvi |
|
|
|
9 |
p. 106-109 |
artikel |
111 |
Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy
|
Burns, Joseph K. |
|
2016 |
|
9 |
p. 551-559 9 p. |
artikel |
112 |
Paediatric mononeuritis multiplex: a report of three cases and review of the literature
|
Ryan, Monique M. |
|
2003 |
|
9 |
p. 751-756 6 p. |
artikel |
113 |
Patient reported outcome measure for upper limb in Duchenne muscular dystrophy: correlation with PUL2.0.
|
Cicala, Gianpaolo |
|
|
|
9 |
p. 69-73 |
artikel |
114 |
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy
|
Yıldız, Yılmaz |
|
2018 |
|
9 |
p. 787-790 |
artikel |
115 |
Prof. Dr. Bernd Rautenstrauss (1959–2015) Pioneer in CMT Genetics
|
Martini, Rudolf |
|
2015 |
|
9 |
p. 725-726 2 p. |
artikel |
116 |
Publisher's Note
|
|
|
2003 |
|
9 |
p. iii- 1 p. |
artikel |
117 |
Quantitative muscle MRI: A powerful surrogate outcome measure in Duchenne muscular dystrophy
|
Bonati, Ulrike |
|
2015 |
|
9 |
p. 679-685 7 p. |
artikel |
118 |
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient
|
Ikenberg, Elena |
|
2017 |
|
9 |
p. 856-860 5 p. |
artikel |
119 |
243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22–24 March 2019
|
Poulton, Joanna |
|
2019 |
|
9 |
p. 725-733 |
artikel |
120 |
Reducing body myopathy – A new pathogenic FHL1 variant and literature review
|
Mota, Isabella Araujo |
|
|
|
9 |
p. 847-853 |
artikel |
121 |
Refined mapping of the HMSNR critical gene region—construction of a high-density integrated genetic and physical map
|
Hantke, Janina |
|
2003 |
|
9 |
p. 729-736 8 p. |
artikel |
122 |
Report on the EUROMAC McArdle Exercise Testing Workshop, Madrid, Spain, 11–12 July 2014
|
Quinlivan, Ros |
|
2015 |
|
9 |
p. 739-745 7 p. |
artikel |
123 |
Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial
|
Fauroux, Brigitte |
|
2018 |
|
9 |
p. 731-740 |
artikel |
124 |
Results of an open label feasibility study of sodium valproate in people with McArdle disease
|
Scalco, Renata S. |
|
|
|
9 |
p. 734-741 |
artikel |
125 |
Role of respiratory characteristics in treatment adherence with noninvasive home mechanical ventilation in myotonic dystrophy type 1, a retrospective study
|
Vosse, Bettine Anna Hildegard |
|
|
|
9 |
p. 57-62 |
artikel |
126 |
Safety and clinical outcome of tamoxifen in Duchenne muscular dystrophy
|
Tsabari, Reuven |
|
|
|
9 |
p. 803-813 |
artikel |
127 |
Sexual differences in onset of disease and response to exercise in a transgenic model of ALS
|
Veldink, J.H. |
|
2003 |
|
9 |
p. 737-743 7 p. |
artikel |
128 |
Sport activity in Charcot–Marie–Tooth disease: A case study of a Paralympic swimmer
|
Vita, Giuseppe |
|
2016 |
|
9 |
p. 614-618 5 p. |
artikel |
129 |
241st ENMC international workshop: Towards a European unifying lab for Kennedy's disease. 15–17th February, 2019 Hoofddorp, The Netherlands
|
Greensmith, L. |
|
2019 |
|
9 |
p. 716-724 |
artikel |
130 |
1st FSHD European Trial Network workshop:Working towards trial readiness across Europe
|
Voermans, N.C. |
|
|
|
9 |
p. 907-918 |
artikel |
131 |
Stiff-person syndrome associated with oral isotretinoin treatment
|
Chroni, E |
|
2002 |
|
9 |
p. 886-888 3 p. |
artikel |
132 |
Structural and molecular basis of skeletal muscle diseases
|
van der Kooi, Anneke J. |
|
2003 |
|
9 |
p. 766- 1 p. |
artikel |
133 |
Tamoxifen in Duchenne muscular dystrophy – promising first results
|
Rüegg, Urs |
|
|
|
9 |
p. 801-802 |
artikel |
134 |
The effect of the DcpS inhibitor D156844 on the protective action of follistatin in mice with spinal muscular atrophy
|
Harris, Ashlee W. |
|
2015 |
|
9 |
p. 699-705 7 p. |
artikel |
135 |
The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy
|
Elson, Joanna L |
|
2002 |
|
9 |
p. 858-864 7 p. |
artikel |
136 |
The Massachusetts General Hospital Handbook of Neurology
|
Nixon, John |
|
2002 |
|
9 |
p. 906- 1 p. |
artikel |
137 |
The Muscular Dystrophies
|
Cea, Gabriel |
|
2003 |
|
9 |
p. 766- 1 p. |
artikel |
138 |
206th ENMC International Workshop: Care for a novel group of patients – adults with Duchenne muscular dystrophy Naarden, The Netherlands, 23–25 May 2014
|
Rahbek, Jes |
|
2015 |
|
9 |
p. 727-738 12 p. |
artikel |
139 |
260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands
|
Spendiff, Sally |
|
|
|
9 |
p. 111-118 |
artikel |
140 |
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE
|
Muntoni, F |
|
2002 |
|
9 |
p. 889-896 8 p. |
artikel |
141 |
217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016
|
Jungbluth, Heinz |
|
2016 |
|
9 |
p. 624-633 10 p. |
artikel |
142 |
249th ENMC International Workshop: The role of brain dystrophin in muscular dystrophy: Implications for clinical care and translational research, Hoofddorp, The Netherlands, November 29th–December 1st 2019
|
Hendriksen, Jos G.M. |
|
|
|
9 |
p. 782-794 |
artikel |
143 |
116th ENMC international workshop: the treatment of mitochondrial disorders, 14th–16th March 2003, Naarden, The Netherlands
|
Chinnery, P.F |
|
2003 |
|
9 |
p. 757-764 8 p. |
artikel |
144 |
240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25–27 January 2019, Hoofddorp, The Netherlands
|
Morgan, Jennifer |
|
2019 |
|
9 |
p. 704-715 |
artikel |
145 |
The 23rd Meryon lecture at the annual meeting of the Meryon Society, Oxford, UK, 12 July 2019: care and management for patients with muscle diseases in Japan
|
Nonaka, Ikuya |
|
|
|
9 |
p. 110 |
artikel |
146 |
104th European Neuromuscular Centre (ENMC) International Workshop: Distal myopathies, 8–10th March 2002 in Naarden, The Netherlands
|
Udd, B |
|
2002 |
|
9 |
p. 897-904 8 p. |
artikel |
147 |
Three Turkish families with different transthyretin mutations
|
Bekircan-Kurt, Can Ebru |
|
2015 |
|
9 |
p. 686-692 7 p. |
artikel |
148 |
Treatment of Neurological Disorders with Intravenous Immunoglobulins
|
Winer, John |
|
2003 |
|
9 |
p. 767- 1 p. |
artikel |
149 |
TREAT-NMD stakeholder meeting for natural history studies in limb girdle muscular dystrophy 18th June 2019, Amsterdam, The Netherlands
|
Guglieri, Michela |
|
|
|
9 |
p. 899-906 |
artikel |
150 |
Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2
|
Carneiro, Diogo Reis |
|
|
|
9 |
p. 891-895 |
artikel |
151 |
White matter brain lesions in infantile-onset Pompe disease are not metabolically active using 18F-FDG PET/MR imaging
|
Claeys, Kristl G. |
|
|
|
9 |
p. 732-733 |
artikel |
152 |
Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern
|
Sakr, Hossam M. |
|
|
|
9 |
p. 814-823 |
artikel |
153 |
Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior
|
Nouri, Zahra |
|
|
|
9 |
p. 776-784 |
artikel |
154 |
Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions
|
Guo, Le |
|
|
|
9 |
p. 859-864 |
artikel |
155 |
WMS 2022 Congress announcement
|
|
|
|
|
9 |
p. III |
artikel |
156 |
WMS 2023 Congress announcement
|
|
|
|
|
9 |
p. III |
artikel |
157 |
WMS 2022 Flyer
|
|
|
|
|
9 |
p. II |
artikel |
158 |
WMS 2023 Flyer
|
|
|
|
|
9 |
p. II |
artikel |
159 |
WMS Information
|
|
|
|
|
9 |
p. I |
artikel |
160 |
WMS Information
|
|
|
|
|
9 |
p. I |
artikel |
161 |
Women in the history of neuromuscular medicine
|
Thomas, Eleanor |
|
2019 |
|
9 |
p. 698-703 |
artikel |
162 |
X-linked Emery–Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures
|
Brisset, Marion |
|
2019 |
|
9 |
p. 678-683 |
artikel |
163 |
X-linked myopathy with excessive autophagy: First report of an Israeli family presenting with late onset lower limb girdle weakness
|
Alon, Tayir |
|
|
|
9 |
p. 854-858 |
artikel |