Digitale Bibliotheek
Sluiten Bladeren door artikelen uit een tijdschrift
     Tijdschrift beschrijving
       Alle jaargangen van het bijbehorende tijdschrift
         Alle afleveringen van het bijbehorende jaargang
                                       Alle artikelen van de bijbehorende aflevering
 
                             265 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations Jimenez-Mallebrera, C.
2006
16 9-10 p. 571-582
12 p.
artikel
2 Author Index 2006
16 9-10 p. 727-733
7 p.
artikel
3 Chest infections in young neuromuscular patients: The critical importance of preserving Vital Capacity Vianello, Andrea
2006
16 9-10 p. 614-
1 p.
artikel
4 Development of polyglucosan inclusions in skeletal muscle Valentine, Beth A.
2006
16 9-10 p. 603-607
5 p.
artikel
5 Editorial Board 2006
16 9-10 p. CO2-
1 p.
artikel
6 Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation D’Amico, Adele
2006
16 9-10 p. 548-552
5 p.
artikel
7 Forthcoming Meetings 2006
16 9-10 p. V-VI
nvt p.
artikel
8 G.O.2 A clinical and pathological study of congenital fibre type disproportion Clarke, N.F.
2006
16 9-10 p. 646-
1 p.
artikel
9 G.O. 10 Dynamin 2 mutations and impairment of EGF-induced MAPK activation Bitoun, M.
2006
16 9-10 p. 725-726
2 p.
artikel
10 G.O. 9 Dynamin 2 mutations are associated with dominant intermediate Charcot-Marie-Tooth disease and dominant centronuclear myopathy Claeys, K.G.
2006
16 9-10 p. 725-
1 p.
artikel
11 G.O. 8 Gene therapy trials in the ovine model of McArdle’s disease McC Howell, J.
2006
16 9-10 p. 725-
1 p.
artikel
12 G.O.4 Immune-mediated rippling muscle disease with myasthenia gravis: a report of 7 patients Schoser, B.G.H.
2006
16 9-10 p. 647-
1 p.
artikel
13 G.O.5 Impairment of signal transduction pathways in hereditary inclusion body myopathy Amsili, S.
2006
16 9-10 p. 647-
1 p.
artikel
14 G.O.1 In vitro expression of small heat shock protein HSPB8 and HSPB1 mutations causing axonal neuropathy Irobi, J.
2006
16 9-10 p. 645-646
2 p.
artikel
15 G.O.3 Molecular diagnosis of congenital myasthenic syndromes (CMS): Experience of the French network Richard, P.
2006
16 9-10 p. 646-647
2 p.
artikel
16 G.O. 7 Pharmacological chaperones as an alternate treatment for Pompe disease Wustman, B.A.
2006
16 9-10 p. 724-725
2 p.
artikel
17 G.O.6 “Pseudo-Lupus”, benign neutropenia, and other probably non-worrisome blood-component changes due to IVIG treatment Engel, W.K.
2006
16 9-10 p. 647-648
2 p.
artikel
18 G.P.2 04 A GNE knockout mouse expressing human V572L mutation develops features similar to Nonaka myopathy or distal myopathy with rimmed vacuoles (DMRV) Malicdan, M.C.
2006
16 9-10 p. 658-
1 p.
artikel
19 G.P.2 01 Alpha-synuclein and parkin are novel proteins accumulated in ragged red fibers Paciello, O.
2006
16 9-10 p. 657-
1 p.
artikel
20 G.P.1 07 AMP-activated protein kinase gene mutation: a new cause of muscular glycogenosis associated with hypertrophic cardiomyopathy and conduction defect Laforêt, P.
2006
16 9-10 p. 656-
1 p.
artikel
21 G.P.7 06 AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance Hanisch, F.
2006
16 9-10 p. 702-703
2 p.
artikel
22 G.P.7 02 Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation Rodolico, C.
2006
16 9-10 p. 701-702
2 p.
artikel
23 G.P.4.06 A new intermediate phenotype in a Swiss family with mutation in the LMNA gene Dunand, M.
2006
16 9-10 p. 676-677
2 p.
artikel
24 G.P.7 03 A new scale to measure activity limitations in children and adults with neuromuscular disorders Vandervelde, L.
2006
16 9-10 p. 702-
1 p.
artikel
25 G.P.6 07 An overview of mutations reported in the Leiden DMD mutation database that appear not to follow the reading frame rule Aartsma-Rus, A.
2006
16 9-10 p. 700-
1 p.
artikel
26 G.P.3 06 An unusual case of congenital muscular dystrophy with mitochondrial structural abnormalities Vondracek, P.
2006
16 9-10 p. 660-661
2 p.
artikel
27 G.P.6 04 Autoantibodies to myocardium are elevated at high rate in patients with muscular dystrophy Matsumura, T.
2006
16 9-10 p. 699-
1 p.
artikel
28 G.P.10 02 Bone health in Duchenne muscular dystrophy Wong, B.L.
2006
16 9-10 p. 718-
1 p.
artikel
29 G.P.8 03 Cap disease – a variant of nemaline myopathy Ohlsson, M.
2006
16 9-10 p. 707-
1 p.
artikel
30 G.P.8 12 Centronuclear myopathy: clinical and morphological phenotype/genotype correlations Bevilacqua, J.A.
2006
16 9-10 p. 710-
1 p.
artikel
31 G.P.5 07 Changes in fiber-type composition of re-innervated rat soleus muscle regenerating from notexin-induced necrosis Mendler, L.
2006
16 9-10 p. 693-
1 p.
artikel
32 G.P.9 06 Characterization of the DUX4c gene located within a repeated element close to the FSHD locus Ansseau, E.
2006
16 9-10 p. 712-
1 p.
artikel
33 G.P.10 07 CINRG pilot trial of oxatomide in steroid-naive Duchenne muscular dystrophy Buyse, G.M.
2006
16 9-10 p. 720-
1 p.
artikel
34 G.P.1 04 Clinical features and diagnostic tools in adults with debrancher deficiency (glycogen storage disease type III) Nadaj-Pakleza, A.
2006
16 9-10 p. 655-
1 p.
artikel
35 G.P.1 06 Clinical, histologic, and genetic studies in two Portuguese families with McArdle’s disease Chorão, R.
2006
16 9-10 p. 655-656
2 p.
artikel
36 G.P.1 01 Clinical presentation and disease progression in late-onset Pompe disease Escolar, D.M.
2006
16 9-10 p. 654-
1 p.
artikel
37 G.P.9 03 Clinical variables to assess phenotype severity in (GCG)9 OPMD cases Alexander, C.
2006
16 9-10 p. 711-
1 p.
artikel
38 G.P.3 04 Complex V subcomplexes suggestive of a defective intramitochondrial protein translation Van Coster, R.
2006
16 9-10 p. 660-
1 p.
artikel
39 G.P.1 03 Construction of a specific health questionnaire for patients with late-onset Pompe disease van der Beek, N.A.M.E.
2006
16 9-10 p. 654-655
2 p.
artikel
40 G.P.10 09 Depression and functional evaluation in Duchenne muscular dystrophy according to family functionality Escobar, R.E.
2006
16 9-10 p. 720-721
2 p.
artikel
41 G.P.7 04 Development of neurogenic and myogenic conditions in critical illness neuromuscular disorders: follow-up histopathological study Lukáš, Z.
2006
16 9-10 p. 702-
1 p.
artikel
42 G.P.8 01 Development of the multiplex ligation-dependent probe amplification (MLPA) method for the detection of large deletions in the nebulin gene Lehtokari, V.L.
2006
16 9-10 p. 706-
1 p.
artikel
43 G.P.5 06 Dislocated neuronal nitric oxide synthase results in muscle atrophy during tail suspension Suzuki, N.
2006
16 9-10 p. 692-693
2 p.
artikel
44 G.P.10 06 Does deflazacort treatment impact the surgical outcomes for boys with Duchenne muscular dystrophy? Biggar, W.D.
2006
16 9-10 p. 719-720
2 p.
artikel
45 G.P.5 08 Dystrophin-dependent muscle degeneration requires a fully functional contractile machinery to occur in Caenorhabditis elegans Mariol, M.C.
2006
16 9-10 p. 693-
1 p.
artikel
46 G.P.9 07 D4Z4 repeat exchanges between chromosomes 4 and 10 in different Brazilian ethnic groups: implications for FSHD prevalence? Tonini, M.M.O.
2006
16 9-10 p. 712-713
2 p.
artikel
47 G.P.7 07 Epidemiology of neuromuscular disorders in Portugal at pediatric age Santos, M.A.
2006
16 9-10 p. 703-
1 p.
artikel
48 G.P.8 05 Explorations on the molecular basis of desminopathy Bär, H.
2006
16 9-10 p. 708-
1 p.
artikel
49 G.P.2 07 Expression of inhibitor κB-α in idiopathic inflammatory myopathies Creus, K.K.
2006
16 9-10 p. 659-
1 p.
artikel
50 G.P.9 08 Facioscapulohumeral dystrophy presenting as monomelic amyotrophy with rimmed vacuoles – case report Matos, A.
2006
16 9-10 p. 713-
1 p.
artikel
51 G.P.10 03 Functional ability monitoring in Duchenne muscular dystrophy using posture and walking time recording in a home environment Bloetzer, C.
2006
16 9-10 p. 718-719
2 p.
artikel
52 G.P.9 05 Histopathological features of Drosophila model of oculopharyngeal muscular dystrophy van der Sluijs, B.M.
2006
16 9-10 p. 712-
1 p.
artikel
53 G.P.8 08 Identification of a desmin gene mutation in scapuloperoneal syndrome type Kaeser Walter, M.C.
2006
16 9-10 p. 708-709
2 p.
artikel
54 G.P.8 02 Identification of exonic splicing enhancers in the nebulin gene Ranta, S.
2006
16 9-10 p. 707-
1 p.
artikel
55 G.P.6 10 Impaired platelet adhesion on collagen surfaces and secretion defect in Duchenne muscular dystrophy patients Labarque, V.
2006
16 9-10 p. 701-
1 p.
artikel
56 G.P.2 02 In cultured human muscle fibers (CHMFs) amyloid-β precursor protein (AβPP) and proteasome inhibition increase αB-crystallin (αBC). Relevance to sporadic inclusion-body myositis (s-IBM) Wojcik, S.
2006
16 9-10 p. 657-
1 p.
artikel
57 G.P.5 01 Inflammatory muscle disease in dogs is associated with Leishmania infantum Paciello, O.
2006
16 9-10 p. 691-
1 p.
artikel
58 G.P.3 01 Isolated myopathy with muscle coenzyme Q10 deficiency Topaloğlu, H.
2006
16 9-10 p. 659-
1 p.
artikel
59 G.P.10 04 Is there a relationship between hamstring length and function in ambulant boys with Duchenne muscular dystrophy? Nicholson, C.
2006
16 9-10 p. 719-
1 p.
artikel
60 G.P.4.04 Lamin A/C gene mutation as a cause of dropped head syndrome. Extending the striated muscle laminopathies Nascimento, A.
2006
16 9-10 p. 676-
1 p.
artikel
61 G.P.5 03 Laser microdissection-based expression analysis of key muscle regeneration genes in degenerative–regenerative groups of mdx mice Marotta, M.
2006
16 9-10 p. 691-692
2 p.
artikel
62 G.P.9 02 Long expansion and deletion of the polyalanine domain in PABPN1 lead to a modified aggregation pattern Klein, A.F.
2006
16 9-10 p. 711-
1 p.
artikel
63 G.P.4.09 Looking for a third gene causing Emery-Dreifuss muscular dystrophy: Lessons and perspectives Gueneau, L.
2006
16 9-10 p. 677-678
2 p.
artikel
64 G.P.10 08 Lower urinary tract symptoms in patients with Duchenne muscular dystrophy van Wijk, E.
2006
16 9-10 p. 720-
1 p.
artikel
65 G.P.6 08 Mechanisms for dystrophin expression in BMD patients with premature stop codons and frameshift mutations in DMD exon 1 Gurvich, O.L.
2006
16 9-10 p. 700-
1 p.
artikel
66 G.P.3 07 Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNAphe gene Moslemi, A.R.
2006
16 9-10 p. 661-
1 p.
artikel
67 G.P.5 02 MRL/MpJ wound-healing phenotype increases the myofiber size in mdx mouse skeletal muscle Ohsawa, Y.
2006
16 9-10 p. 691-
1 p.
artikel
68 G.P.4.03 Mutations in the lamin A/C gene: An emergent cause of fatal arrhythmias in congenital muscular dystrophies Politano, L.
2006
16 9-10 p. 675-676
2 p.
artikel
69 G.P.8 10 Myopathy with tubular aggregates: a family report Fahmy, N.
2006
16 9-10 p. 709-
1 p.
artikel
70 G.P.10 10 Newborn screening for Duchenne muscular dystrophy. The experience in the province of Antwerp Eyskens, F.
2006
16 9-10 p. 721-
1 p.
artikel
71 G.P.6 09 Normal distribution of Ins(1,4,5)P3 receptors is disrupted in Duchenne muscular dystrophy Bevilacqua, J.A.
2006
16 9-10 p. 700-701
2 p.
artikel
72 G.P.3 08 Novel mutations in the CHRNB1 gene in three patients affected by a congenital myasthenic syndrome Müller, J.S.
2006
16 9-10 p. 661-
1 p.
artikel
73 G.P.3 03 Novel nuclear encoded autosomal recessive mitochondriopathy Cirak, S.
2006
16 9-10 p. 660-
1 p.
artikel
74 G.P.6 03 NT-proBNP is not associated with dilated cardiomyopathy in Becker and Duchenne muscular dystrophies van Westrum, S.M. Schade
2006
16 9-10 p. 698-699
2 p.
artikel
75 G.P.4.07 Pathophysiological exploration of striated muscles of KI LmnaH222P mouse model of Emery-Dreifuss muscular dystrophy Decostre, V.
2006
16 9-10 p. 677-
1 p.
artikel
76 G.P.4.02 Pathophysiological mechanisms of lamin A/C associated Charcot-Marie-Tooth disease (CMT2B1/ARCMT2) Poitelon, Y.
2006
16 9-10 p. 675-
1 p.
artikel
77 G.P.6 06 Patterns of dystrophin gene deletion in Egyptian Duchenne/Becker muscular dystrophy patients El Sherif, R.L.
2006
16 9-10 p. 699-700
2 p.
artikel
78 G.P.1 08 Phenotype–genotype correlation in two families with muscle phosphofructokinase deficiency Toscano, A.
2006
16 9-10 p. 656-
1 p.
artikel
79 G.P.4.05 Phenotypic clustering of lamin A/C mutations in neuromuscular patients Benedetti, S.
2006
16 9-10 p. 676-
1 p.
artikel
80 G.P.8 07 Phenotypic variability associated with desmin gene mutations Sarkozy, A.
2006
16 9-10 p. 708-
1 p.
artikel
81 G.P.10 05 Predictive factors for the development of scoliosis in Duchenne muscular dystrophy Kinali, M.
2006
16 9-10 p. 719-
1 p.
artikel
82 G.P.9 04 Premature senescence of myoblasts in oculopharyngeal muscular dystrophy Bouazza, B.
2006
16 9-10 p. 711-712
2 p.
artikel
83 G.P.9 01 Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear poly(A)-binding protein with an intracellularly expressed camelid-derived antibody domain Verheesen, P.
2006
16 9-10 p. 710-711
2 p.
artikel
84 G.P.2 06 Proteomic analysis of inclusion body myositis Li, J.
2006
16 9-10 p. 658-659
2 p.
artikel
85 G.P.2 05 Proteomic and glycan profiles of myotubes from hereditary inclusion body myopathy Salama, I.
2006
16 9-10 p. 658-
1 p.
artikel
86 G.P.10 01 Quantitative ultrasound measurements of bone density DMD and SMA patients Berardinelli, A.
2006
16 9-10 p. 717-718
2 p.
artikel
87 G.P.4.01 Rare congenital presentation of Emery-Dreifuss muscular dystrophy due to a novel de-novo LMNA mutation R249W Medne, L.
2006
16 9-10 p. 675-
1 p.
artikel
88 G.P.7 05 Reliable and controllable antibody fragment selections from Camelid non-immune libraries Verheesen, P.
2006
16 9-10 p. 702-
1 p.
artikel
89 G.P.6 05 Revising the cardiac phenotype of Duchenne muscular dystrophy Markham, L.W.
2006
16 9-10 p. 699-
1 p.
artikel
90 G.P.3 09 Severe neonatal myasthenia due to maternal anti-MuSK antibodies Behin, A.
2006
16 9-10 p. 661-662
2 p.
artikel
91 G.P.3 02 Six children with early-onset mitochondrial encephalomyopathy and one heterozygous pathogenic mutation in POLG1 Talim, B.
2006
16 9-10 p. 659-660
2 p.
artikel
92 G.P.5 05 Skeletal muscle involvement in neuraminidase deficient mice Zanoteli, E.
2006
16 9-10 p. 692-
1 p.
artikel
93 G.P.6 02 Somatic and germinal mosaicism of an out-of-frame deletion in the dystrophin gene in an adult male patient with predominant dilated cardiomyopathy Hu, Y.H.
2006
16 9-10 p. 698-
1 p.
artikel
94 G.P.2 03 Specific interrelationship between inflammation and β-amyloid-related degeneration in sporadic inclusion body myositis (sIBM) Schmidt, J.
2006
16 9-10 p. 657-658
2 p.
artikel
95 G.P.1 05 The clinical spectrum of glycogen storage disease type IV (Andersen disease) Raju, G.P.
2006
16 9-10 p. 655-
1 p.
artikel
96 G.P.9 09 The D4Z4 subtelomeric element behaves as a CTCF-dependent insulator and anchors telomeres to the nuclear periphery Ottaviani, A.
2006
16 9-10 p. 713-
1 p.
artikel
97 G.P.1 02 The Pompe registry: centralized data collection to outline the natural course of Pompe disease van der Ploeg, A.
2006
16 9-10 p. 654-
1 p.
artikel
98 G.P.4.08 Three kinds of model mice for nuclear envelopathy Hayashi, Y.K.
2006
16 9-10 p. 677-
1 p.
artikel
99 G.P.8 11 Towards the identification of new morphological subtypes of congenital myopathy Bevilacqua, J.A.
2006
16 9-10 p. 709-710
2 p.
artikel
100 G.P.8 04 TPM3 (Arg167His) autosomal dominant nemaline myopathy: variable clinical and histopathological phenotypes Pénisson-Besnier, I.
2006
16 9-10 p. 707-708
2 p.
artikel
101 G.P.5 04 T2 relaxation time mapping and diffusion weighted imaging (DWI) changes of exercised and non-exercised mdx and wild type mice Collins, J.
2006
16 9-10 p. 692-
1 p.
artikel
102 G.P.8 09 Tubular aggregates in muscle biopsies. A screening study from the National Neuromuscular Centre of Norway Lindal, S.
2006
16 9-10 p. 709-
1 p.
artikel
103 G.P.6 01 Utrophin in the dystrophic muscle: evaluation of the contribution of connective tissue replacement Vainzof, M.
2006
16 9-10 p. 697-698
2 p.
artikel
104 G.P.8 06 Very early onset myopathy with structural changes in the diaphragm at autopsy consistent with myofibrillar myopathy Rasmussen, M.
2006
16 9-10 p. 708-
1 p.
artikel
105 G.P.7 01 Whole-body muscular MRI in early-onset muscle diseases Cuvelier, P.
2006
16 9-10 p. 701-
1 p.
artikel
106 Induced dystrophin exon skipping in human muscle explants McClorey, G.
2006
16 9-10 p. 583-590
8 p.
artikel
107 Instructions to Authors 2006
16 9-10 p. 734-735
2 p.
artikel
108 N.I.4 Analysis of the molecular basis of spinal muscular atrophy Fischer, U.
2006
16 9-10 p. 645-
1 p.
artikel
109 N.I.5 Clinical and pathophysiological concepts of spinal muscular atrophy with relaxatio diaphragmatica (SMARD1) von Au-Grohmann, K.
2006
16 9-10 p. 645-
1 p.
artikel
110 N.I.1 Inherited peripheral neuropathies: A clinical roadmap Reilly, M.M.
2006
16 9-10 p. 644-
1 p.
artikel
111 N.I.3 Myelin and axons: Lessons learned from inherited peripheral neuropathies Suter, U.
2006
16 9-10 p. 644-645
2 p.
artikel
112 N.I.2 The never ending story of genetics of inherited peripheral neuropathies De Jonghe, P.
2006
16 9-10 p. 644-
1 p.
artikel
113 N.P.3 07 A diagnostic guideline for chronic polyneuropathy, a prospective implementation study Notermans, N.C.
2006
16 9-10 p. 666-
1 p.
artikel
114 N.P.1 10 A mutation in the ALS8 gene in a patient with a limb-girdle phenotype Magalhães, M.L.
2006
16 9-10 p. 651-
1 p.
artikel
115 N.P.3 04 A novel Pro105Thr mutation in the MPZ gene causes late onset CMT2 disease with hearing impairment Kochański, A.
2006
16 9-10 p. 665-
1 p.
artikel
116 N.P.2 05 A previously unreported non-sense mutation in SMN1 causes spinal muscular atrophy Arkblad, E.L.
2006
16 9-10 p. 653-
1 p.
artikel
117 N.P.2 06 Canceiied 2006
16 9-10 p. 653-
1 p.
artikel
118 N.P.4 08 Clinical heterogeneity of progressive spinal muscular atrophy in adults Stuchevskaya, T.R.
2006
16 9-10 p. 669-670
2 p.
artikel
119 N.P.4 05 Comparison of quantitative muscle testing and hand-held myometry in spinal muscular atrophy Hynan, L.S.
2006
16 9-10 p. 668-669
2 p.
artikel
120 N.P.3 08 Contribution of the nerve biopsy in hereditary peripheral neuropathies Vital, A.
2006
16 9-10 p. 666-
1 p.
artikel
121 N.P.2 03 Correlation between SMN2 copy number variations in expression of SMN2 mRNA and clinical outcome in SMA patients treated with phenylbutyrate and valproic acid Zapletalova, E.
2006
16 9-10 p. 652-
1 p.
artikel
122 N.P.1 05 Cytogenetic aberrations in neuropathy associated with IgM monoclonal gammopathy Eurelings, M.
2006
16 9-10 p. 649-650
2 p.
artikel
123 N.P.1 06 Distal hereditary motor neuropathies Geraldo, A.P.
2006
16 9-10 p. 650-
1 p.
artikel
124 N.P.1 09 Genetic epidemiology of familial amyloid polyneuropathy in Portugal Coelho, T.
2006
16 9-10 p. 650-651
2 p.
artikel
125 N.P.3 09 Hereditary neuropathies in a pediatric clinic Santos, M.A.
2006
16 9-10 p. 666-667
2 p.
artikel
126 N.P.2 07 Identification and characterisation of Fugu rubripes SMN gene Kathirvel, P.
2006
16 9-10 p. 653-
1 p.
artikel
127 N.P.2 08 Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene Barisic, N.
2006
16 9-10 p. 653-
1 p.
artikel
128 N.P.3 06 In vitro analysis of MFN2 mutations associated with Charcot-Marie-Tooth disease Baloh, R.H.
2006
16 9-10 p. 666-
1 p.
artikel
129 N.P.3 05 Mitofusin 2 mutations are a major cause for autosomal dominant axonal CMT neuropathy Verhoeven, K.
2006
16 9-10 p. 665-666
2 p.
artikel
130 N.P.1 08 Monomelic amyotrophy: study of two cases Fahmy, N.
2006
16 9-10 p. 650-
1 p.
artikel
131 N.P.4 02 Motor function measure that permits the evaluation of ambulatory spinal muscular atrophy patients Rascoll, J.M.
2006
16 9-10 p. 667-
1 p.
artikel
132 N.P.1 01 Muscle excitability abnormalities in Machado-Joseph disease: Preliminary report França Jr., M.C.
2006
16 9-10 p. 648-
1 p.
artikel
133 N.P.4 06 Natural history of severe infantile spinal muscular atrophy – preliminary results of a pilot study Rudnik-Schöneborn, S.
2006
16 9-10 p. 669-
1 p.
artikel
134 N.P.1 04 Neuropathy in degenerative early-onset cerebellar ataxias Bos, M.M.
2006
16 9-10 p. 649-
1 p.
artikel
135 N.P.2 04 Patients with spinal muscular atrophy (SMA) and healthy siblings sharing homozygous deletions of the SMN1 gene reveal an identical number of SMN2 gene copies but different SMN protein levels Lemmink, H.H.
2006
16 9-10 p. 652-
1 p.
artikel
136 N.P.4 09 Percutaneous gastrostomy in Werdnig–Hoffman disease Vajsar, J.
2006
16 9-10 p. 670-
1 p.
artikel
137 N.P.1 03 Peripheral nerve abnormalities in hereditary spastic paraplegia with thin corpus callosum França Jr., M.C.
2006
16 9-10 p. 649-
1 p.
artikel
138 N.P.1 02 Peripheral nerve involvement in Machado-Joseph disease: A neurophysiological study in a large cohort of patients França Jr., M.C.
2006
16 9-10 p. 648-649
2 p.
artikel
139 N.P.4 01 Relationship between outcome measures assessing strength and function in children with spinal muscular atrophy (SMA) type II and III Krosschell, K.J.
2006
16 9-10 p. 667-
1 p.
artikel
140 N.P.4 04 Reliability of the modified Hammersmith functional motor scale in children less than 30 months of age Krosschell, K.J.
2006
16 9-10 p. 668-
1 p.
artikel
141 N.P.1 07 Rituximab for IgM MGUS polyneuropathy: an uncontrolled trial Niermeijer, J.M.F.
2006
16 9-10 p. 650-
1 p.
artikel
142 N.P.2 01 Spinal muscular atrophy: correlation between the number of SMN2 genes and functional ability Tiziano, F.D.
2006
16 9-10 p. 651-
1 p.
artikel
143 N.P.4 03 The CHOP INTEND: A reliable motor scale for infants with neuromuscular disease Finkel, R.S.
2006
16 9-10 p. 668-
1 p.
artikel
144 N.P.3 03 Three novel mutations of the myelin Po gene (MPZ) in Portuguese families with CMT1B Coelho, T.
2006
16 9-10 p. 665-
1 p.
artikel
145 N.P.4 07 Typical spinal muscular atrophy with pharmacoresistant epilepsy: A pediatric case report Cuisset, J.M.
2006
16 9-10 p. 669-
1 p.
artikel
146 N.P.3 01 Tyrosyl-tRNA synthetase (YARS), molecular genetics and functional studies on a dominant intermediate Charcot-Marie-Tooth associated gene Leitão Gonçalves, R.B.
2006
16 9-10 p. 664-
1 p.
artikel
147 N.P.2 02 Wide clinical spectrum among SMA patients carrying 2 or 3 SMN2 copies: limitation of SMN2 copy numbers as clinical prognostic indicator in individual cases Goemans, N.M.L.
2006
16 9-10 p. 651-652
2 p.
artikel
148 N.P.3 02 Wide clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 gene Colomer, J.
2006
16 9-10 p. 664-665
2 p.
artikel
149 P.I.4 Biology and pathology of caveolins Lisanti, Michael
2006
16 9-10 p. 682-
1 p.
artikel
150 P.I.2 Laminopathies affecting the striated muscle Ben Yaou, R.
2006
16 9-10 p. 682-
1 p.
artikel
151 P.I.1 Molecular basis of facioscapulohumeral muscular dystrophy van der Maarel, S.M.
2006
16 9-10 p. 681-682
2 p.
artikel
152 P.I.5 Mutations in SIL1 cause Marinesco–Sjögren syndrome, a cerebellar ataxia with cataract and myopathy Senderek, J.
2006
16 9-10 p. 683-
1 p.
artikel
153 P.I.3 Recent advances in defective prelamin A associated syndromes Navarro, C.L.
2006
16 9-10 p. 682-
1 p.
artikel
154 P.O.4 A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12 Bolduc, V.
2006
16 9-10 p. 684-
1 p.
artikel
155 P.O.2 Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease? Taniguchi, M.
2006
16 9-10 p. 683-684
2 p.
artikel
156 P.O.1 Molecular genetic analysis of 6 glycosyltransferases in a large population of dystroglycanopathy patients significantly widens the spectrum of phenotypes resulting from POMT1, POMGnT1 and Fukutin mutations Godfrey, C.
2006
16 9-10 p. 683-
1 p.
artikel
157 P.O.3 Molecular pathogenesis of caveolinopathy in a mouse model of LGMD1C Sunada, Y.
2006
16 9-10 p. 684-
1 p.
artikel
158 P.P.2 02 Aberrant DMPK expression in DM1 and DM2 patients Raheem, O.
2006
16 9-10 p. 670-671
2 p.
artikel
159 P.P.1 03 A clinical, morphological and genetic study of congenital muscular dystrophies in Algeria Makri, S.
2006
16 9-10 p. 662-663
2 p.
artikel
160 P.P.7 04 A homozygous COL6A1 splice site mutation in siblings with Ullrich congenital muscular dystrophy Makri, S.
2006
16 9-10 p. 715-
1 p.
artikel
161 P.P.1 04 Algerian FKRP mutations causing MDC1C congenital muscular dystrophy with mental retardation Makri, S.
2006
16 9-10 p. 663-
1 p.
artikel
162 P.P.5 06 A mutation in the fast skeletal muscle Troponin I gene causes myopathy and distal arthrogryposis Kimber, E.
2006
16 9-10 p. 689-
1 p.
artikel
163 P.P.5 09 A new combined phenotype of congenital myopathy, hypohydrotic ectodermal dysplasia and immunodeficiency in two brothers Kirschner, J.
2006
16 9-10 p. 690-
1 p.
artikel
164 P.P.5 05 A novel missense mutation in TPM2 associated with muscle weakness and distal arthrogryposis Tajsharghi, H.
2006
16 9-10 p. 689-
1 p.
artikel
165 P.P.5 08 A novel MTM1 mutation in a very old manifesting carrier of myotubular myopathy Pénisson-Besnier, I.
2006
16 9-10 p. 689-690
2 p.
artikel
166 P.P.4 02 A requirement of direct binding of human POMT1 and POMT2 for protein O-mannosyltransferase activity Manya, H.
2006
16 9-10 p. 678-
1 p.
artikel
167 P.P.5 10 A sarcoplasmic body myopathy Hedberg, B.
2006
16 9-10 p. 690-
1 p.
artikel
168 P.P.3 04 Autophagic vacuolar myopathies: Immunochemical and molecular characterization Di Blasi, C.
2006
16 9-10 p. 673-674
2 p.
artikel
169 P.P.5 11 Autosomal dominant congenital fibre type disproportion. Study of a family Nucci, A.
2006
16 9-10 p. 690-691
2 p.
artikel
170 P.P.6 05 CAPN3 mutations in patients with idiopathic eosinophilic myositis Krahn, M.
2006
16 9-10 p. 695-
1 p.
artikel
171 P.P.6 02 Cardiac and respiratory involvement in autosomal recessive limb-girdle muscular dystrophies Palladino, A.
2006
16 9-10 p. 694-
1 p.
artikel
172 P.P.2 06 ClC1 chloride channel gene mutations in myotonic dystrophy type 2 patients Suominen, T.
2006
16 9-10 p. 672-
1 p.
artikel
173 P.P.6 06 Clinical and paraclinical characterization of pseudometabolic dystrophies Vincitorio, C.M.
2006
16 9-10 p. 695-696
2 p.
artikel
174 P.P.6 08 Clinical features of the limb-girdle muscular dystrophy type 2B Takahashi, T.
2006
16 9-10 p. 696-
1 p.
artikel
175 P.P.1 02 Combined approaches to diagnosis of congenital muscular dystrophies with α-dystroglycan hypoglycosylation Bouchet, C.
2006
16 9-10 p. 662-
1 p.
artikel
176 P.P.7 01 Confocal imaging and electron microscopy analysis to identify secondary collagen VI defects Petrini, S.
2006
16 9-10 p. 713-714
2 p.
artikel
177 P.P.1 01 Congenital muscular dystrophy with mental retradation due to a homozygous protein-o-mannosyltransferase 2 (POMT2) mutation: A case report Van den Bergh, P.Y.K.
2006
16 9-10 p. 662-
1 p.
artikel
178 P.P.5 07 Congenital myopathy with internal myonuclei and perinuclear aggregates: Reducing body myopathy without cytoplasmic bodies? Maiti, B.
2006
16 9-10 p. 689-
1 p.
artikel
179 P.P.6 09 Damage-induced dysferlin translocation in C2C12 myotubes requires the full length protein Klinge, L.
2006
16 9-10 p. 696-697
2 p.
artikel
180 P.P.7 03 Development of a diagnostic algorithm for patients with a Bethlem myopathy clinical phenotype Lampe, A.K.
2006
16 9-10 p. 714-
1 p.
artikel
181 P.P.4 04 Disruption of fukutin causes dysmyelination of peripheral nerve Saito, F.
2006
16 9-10 p. 679-
1 p.
artikel
182 P.P.3.07 Distal myopathies in Thailand Liewluck, T.
2006
16 9-10 p. 674-675
2 p.
artikel
183 P.P.7 08 Early changes in muscle fiber size and type distribution in congenital muscular dystrophy type Ullrich Schessl, J.
2006
16 9-10 p. 716-
1 p.
artikel
184 P.P.7 02 Effect on collagen VI extra-cellular assembly of COL6A1 and COL6A2 C-terminal mutations in Ullrich congenital muscular dystrophy Sabatelli, P.
2006
16 9-10 p. 714-
1 p.
artikel
185 P.P.6 01 Exploring the pathogenesis of tibial muscular dystrophy/LGMD2J: Interactions of M-line titin Sarparanta, J.
2006
16 9-10 p. 694-
1 p.
artikel
186 P.P.4 10 Galectin-1 and -3 expression in patients with mutations in the FKRP gene Yamamoto, L.U.
2006
16 9-10 p. 681-
1 p.
artikel
187 P.P.5 03 Generalized muscle hypertrophy, multi-minicores and ryanodine receptor type 1 gene mutation – case report Negrão, L.J.
2006
16 9-10 p. 688-
1 p.
artikel
188 P.P.4 01 Glyc-O-genetics of Walker–Warburg syndrome and related disorders van Reeuwijk, J.
2006
16 9-10 p. 678-
1 p.
artikel
189 P.P.3 01 Hand function in inclusion body myositis Eriksson, M.
2006
16 9-10 p. 672-673
2 p.
artikel
190 P.P.7 07 Identification and characterization of a novel putative secretory protein highly upregulated in dermal fibroblasts from patients with collagen VI deficiency Magold, A.I.
2006
16 9-10 p. 716-
1 p.
artikel
191 P.P.6 03 Incidence of 550delA in the CAPN3 gene in German patients with limb-girdle muscular dystrophy and hyperCKemia Hanisch, F.
2006
16 9-10 p. 694-695
2 p.
artikel
192 P.P.2 03 Increased K+ release during exercise in myotonic dystrophy type 1 (DM1) but not type 2 (DM2, PROMM) Hanisch, F.
2006
16 9-10 p. 671-
1 p.
artikel
193 P.P.7 09 Increased level of matrilin-2 gene expression in regenerating skeletal muscle model Korpos, E.
2006
16 9-10 p. 716-717
2 p.
artikel
194 P.P.4 06 Limb-girdle muscular dystrophy and mental retardation (LGMD2M) has a heterogeneous background Haliloglu, G.
2006
16 9-10 p. 679-680
2 p.
artikel
195 P.P.1 07 Limitation of neck movement may be a feature of most of the childhood neuromuscular disorders Main, M.
2006
16 9-10 p. 664-
1 p.
artikel
196 P.P.3 03 Macrophage migration inhibitory factor in normal skeletal muscle and inflammatory myopathies Reimann, J.
2006
16 9-10 p. 673-
1 p.
artikel
197 P.P.1 06 Magnetic resonance imaging and spectroscopy findings in a patient with partial merosin deficiency Haliloglu, G.
2006
16 9-10 p. 663-664
2 p.
artikel
198 P.P.1 05 Magnetic resonance imaging findings in a newborn with merosin-deficient congenital muscular dystrophy Haliloglu, G.
2006
16 9-10 p. 663-
1 p.
artikel
199 P.P.2 07 Molecular genetic diagnostics of myotonic dystrophy and facioscapulohumeral muscular dystrophy in Czech patients Sedlackova, J.
2006
16 9-10 p. 672-
1 p.
artikel
200 P.P.2 05 Muscleblind-like protein 1 nuclear sequestration and splicing pattern in myotonic dystrophy type 2 Cardani, R.
2006
16 9-10 p. 671-672
2 p.
artikel
201 P.P.7 05 Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle Zou, Y.
2006
16 9-10 p. 715-
1 p.
artikel
202 P.P.5 02 Muscle MRI in a family with congenital myopathy with cores and rods associated with a novel missense mutation in the ryanodine receptor 1 gene von der Hagen, M.
2006
16 9-10 p. 687-688
2 p.
artikel
203 P.P.3 06 New c-terminal titin mutations in tibial muscular dystrophy Hackman, P.
2006
16 9-10 p. 674-
1 p.
artikel
204 P.P.6 11 New mutations in the caveolin-3 gene in Italian families with hyperCKemia Ruggeri, A.
2006
16 9-10 p. 697-
1 p.
artikel
205 P.P.4 08 Pediatric patients homozygous for the c.826C>A missense mutation in the FKRP gene: Experience from a Norwegian pediatric service Rasmussen, M.
2006
16 9-10 p. 680-
1 p.
artikel
206 P.P.4 07 Phenotype and muscle biopsy findings in the first German patient with limb-girdle muscular dystrophy 2K – Important differential diagnosis of Becker muscular dystrophy Schara, U.
2006
16 9-10 p. 680-
1 p.
artikel
207 P.P.7 06 Pronounced phenotypic variability of heterozygote deletion mutations in collagen VI – Evidence for a UCMD-BM spectrum Hu, Y.
2006
16 9-10 p. 715-716
2 p.
artikel
208 P.P.7 10 Quantitative muscle function in Ehlers-Danlos syndrome Voermans, N.C.
2006
16 9-10 p. 717-
1 p.
artikel
209 P.P.3 02 Raised troponin T in inclusion body myositis is common and serum levels are persistent over time Lindberg, C.
2006
16 9-10 p. 673-
1 p.
artikel
210 P.P.7 11 Recurrent neuropathy associated with Ehlers-Danlos syndrome Voermans, N.C.
2006
16 9-10 p. 717-
1 p.
artikel
211 P.P.5 04 Regulation of muscle contraction in a novel myopathy associated with a mutation in the beta-tropomyosin (TPM2) gene Ochala, J.
2006
16 9-10 p. 688-
1 p.
artikel
212 P.P.2 01 Retrospective longitudinal study of muscular strength and gait speed in adult patients with myotonic dystrophy type 1 Hammarén, E.
2006
16 9-10 p. 670-
1 p.
artikel
213 P.P.5 01 RYR1 genotype–phenotype correlative and functional studies in a large cohort of core myopathy patients with RYR1 mutations Zhou, H.
2006
16 9-10 p. 687-
1 p.
artikel
214 P.P.6 10 Sarcoglycanopathy – Can immunoanalyses accurately predict the genotype? Charlton, R.
2006
16 9-10 p. 697-
1 p.
artikel
215 P.P.4 09 Spectrum of mutations and prevalence of FKRP associated disease in Norway Jonsrud, C.
2006
16 9-10 p. 680-681
2 p.
artikel
216 P.P.6 07 Symptomatic dysferlin gene mutation carriers: characterization of two cases Dominguez-Perles, R.
2006
16 9-10 p. 696-
1 p.
artikel
217 P.P.6 04 The clinical and molecular characterisation of calpain deficiency in patients with neuromuscular disorders Tay, V.
2006
16 9-10 p. 695-
1 p.
artikel
218 P.P.4 03 The first successful prenatal diagnosis in two different forms of muscular dystrophies: MEB and LGMD2M Balci, B.
2006
16 9-10 p. 678-679
2 p.
artikel
219 P.P.4 05 The use of FRET analysis to look at the interaction of glycosyltransferases responsible for dystroglycanopathies Kaluarachchi, M.
2006
16 9-10 p. 679-
1 p.
artikel
220 P.P.3 05 Valosin-containing-protein myopathy: clinical, histopathological features and molecular data: a French series Hammouda, H.
2006
16 9-10 p. 674-
1 p.
artikel
221 Programme of the 11th WMS Congress – 2006 2006
16 9-10 p. 626-642
17 p.
artikel
222 Ramblings Flyer (Colour Image & text) 2006
16 9-10 p. III-IV
nvt p.
artikel
223 Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy Lemmers, R.J.L.F.
2006
16 9-10 p. 615-617
3 p.
artikel
224 Reduced necrosis of dystrophic muscle by depletion of host neutrophils, or blocking TNFα function with Etanercept in mdx mice Hodgetts, Stuart
2006
16 9-10 p. 591-602
12 p.
artikel
225 Reply to Lemmers et al. Goto, K.
2006
16 9-10 p. 617-618
2 p.
artikel
226 Reply to Vianello et al. Dohna-Schwake, C.
2006
16 9-10 p. 614-615
2 p.
artikel
227 Severe fascioscapulohumeral muscular dystrophy presenting with Coats’ disease and mental retardation Bindoff, Laurence A.
2006
16 9-10 p. 559-563
5 p.
artikel
228 Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1) Wallefeld, William
2006
16 9-10 p. 541-547
7 p.
artikel
229 Severe phenotype in infantile facioscapulohumeral muscular dystrophy Klinge, Lars
2006
16 9-10 p. 553-558
6 p.
artikel
230 Sleep disorders in childhood-onset myotonic dystrophy type 1 Quera Salva, Maria-Antonia
2006
16 9-10 p. 564-570
7 p.
artikel
231 “So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager” Beresford, Michael W.
2006
16 9-10 p. 613-
1 p.
artikel
232 Table of Location 2006
16 9-10 p. 643-
1 p.
artikel
233 12th International WMS Congress, 17-20 October 2007 2006
16 9-10 p. II-
1 p.
artikel
234 11th WMS Congress – 2006 - Programme (Summary) 2006
16 9-10 p. 623-625
3 p.
artikel
235 T.I. 2 Molecular and cellular therapies for amyotrophic lateral sclerosis Robberecht, W.
2006
16 9-10 p. 721-722
2 p.
artikel
236 T.I. 1 Protease inhibitors as potential treatment strategy for muscular dystrophies Meier, T.
2006
16 9-10 p. 721-
1 p.
artikel
237 T.I. 3 Treatment of pompe disease van der Ploeg, A.T.
2006
16 9-10 p. 722-
1 p.
artikel
238 T.O. 1 Antisense-induced exon skipping in Duchenne muscular dystrophy patients Janson, A.A.M.
2006
16 9-10 p. 722-
1 p.
artikel
239 T.O. 5 Lack of myostatin results in satellite independent muscle fibre hypertrophy and mitochondrial depletion Amthor, H.
2006
16 9-10 p. 724-
1 p.
artikel
240 T.O. 2 Rescue of dystrophin in the GRMD dog by multi-exon skipping using engineered U7 snRNAs Vulin, A.
2006
16 9-10 p. 722-723
2 p.
artikel
241 T.O. 3 Rescue of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a homozygous mutation in the selenocysteine codon of SEPN1 Allamand, V.
2006
16 9-10 p. 723-
1 p.
artikel
242 T.O. 6 Systemic delta-sarcoglycan gene transfer into cardiomyopathic BIO14.6 hamsters by AAV Vitiello, C.
2006
16 9-10 p. 724-
1 p.
artikel
243 T.O. 4 Vascular endothelial growth factor gene transfer using adeno-associated viral vectors stimulates skeletal muscle regeneration and enhances muscle function in mdx mice Messina, S.
2006
16 9-10 p. 723-
1 p.
artikel
244 T.P.2 04 Analyses of early cell death after human myoblast injection into RAG−/−gammaC−/− mice Riederer, I.
2006
16 9-10 p. 704-
1 p.
artikel
245 T.P.1 05 Antisense oligonucleotide design for therapeutic antisense-mediated exon skipping for Duchenne muscular dystrophy Aartsma-Rus, A.
2006
16 9-10 p. 686-
1 p.
artikel
246 T.P.1 02 A phase I/II clinical trial in Duchenne muscular dystrophy using IM and IV delivered antisense oligonucleotides: The MDEX consortium Arechavala, V.
2006
16 9-10 p. 685-
1 p.
artikel
247 T.P.1 08 Autologous transplantation of muscle-derived AC133+ stem cells Belicchi, M.
2006
16 9-10 p. 686-687
2 p.
artikel
248 T.P.1 09 Bone marrow transplantation improves outcome in a mouse model of congenital muscular dystrophy Hagiwara, H.
2006
16 9-10 p. 687-
1 p.
artikel
249 T.P.2 08 Calcium influx triggers calpain- and proteasome-mediated proteolytic activity in cultured muscle cells Briguet, A.
2006
16 9-10 p. 705-
1 p.
artikel
250 T.P.2 07 Correlation between MMPs and TIMPs expression and C2C12 myogenic cell migration and fusion in vitro and in vivo Morgan, J.
2006
16 9-10 p. 705-
1 p.
artikel
251 T.P.1 03 Gene expression profiling to monitor therapeutic and adverse effects of antisense-induced exon skipping for Duchenne muscular dystrophy ’t Hoen, P.A.C.
2006
16 9-10 p. 685-
1 p.
artikel
252 T.P.1 06 Improvement of muscle mass after injection of AAV vectors expressing either myostatin shRNA or activin receptor IIb shRNA Dumonceaux, J.
2006
16 9-10 p. 686-
1 p.
artikel
253 T.P.2 01 Longer-term (>3 months) IVIG treatment to optimize clinical benefit and cellular protection usually requires an individualized adjustable schedule – not fixed regimentation Engel, W.K.
2006
16 9-10 p. 703-704
2 p.
artikel
254 T.P.2 03 Myogenic potential of human stem cells Negroni, E.
2006
16 9-10 p. 704-
1 p.
artikel
255 T.P.2 09 Overcoming the transcription defect in Friedreich ataxia with designed DNA ligands Raï, M.
2006
16 9-10 p. 705-706
2 p.
artikel
256 T.P.1 01 RNA-based gene therapy for dominantly inherited neuromuscular disorders Puymirat, J.
2006
16 9-10 p. 684-685
2 p.
artikel
257 T.P.2 10 The effects of prednisone on exercised-induced muscle damage in mdx mice Collins, J.
2006
16 9-10 p. 706-
1 p.
artikel
258 T.P.2 02 The mitotic clock in skeletal muscle: Immortalization of human myoblasts and consequences for studying muscle disease Butler-Browne, G.S.
2006
16 9-10 p. 704-
1 p.
artikel
259 T.P.1 07 Therapeutic benefit of AAV-mediated injection of a mutated propeptide of myostatin in calpain 3 deficient mice Bartoli, M.
2006
16 9-10 p. 686-
1 p.
artikel
260 T.P.2 05 The therapeutic effect of myostatin-blockade on muscular dystrophic mice and gene expression analysis of the treated muscles Noguchi, S.
2006
16 9-10 p. 705-
1 p.
artikel
261 T.P.1 04 Towards safe and efficient full-body delivery of antisense oligonucleotides for the treatment of Duchenne muscular dystrophy Heemskerk, J.A.
2006
16 9-10 p. 685-686
2 p.
artikel
262 Welcome to Bruges 2006
16 9-10 p. 620-622
3 p.
artikel
263 WMS11 2006
16 9-10 p. 619-
1 p.
artikel
264 WMS application form 2006
16 9-10 p. I-
1 p.
artikel
265 Workshop on the nuclear envelope and Emery–Dreifuss muscular dystrophy 29th March 2006, Oswestry, UK Natalie Randles, K.
2006
16 9-10 p. 608-612
5 p.
artikel
                             265 gevonden resultaten
 
 Koninklijke Bibliotheek - Nationale Bibliotheek van Nederland