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 |