nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
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 |
12 |
9 |
p. 869-873 5 p. |
artikel |
2 |
Child Neurology, Sixth Edition
|
Nicolaides, P |
|
2002 |
12 |
9 |
p. 905- 1 p. |
artikel |
3 |
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation
|
Lacoste-Collin, Laetitia |
|
2002 |
12 |
9 |
p. 882-885 4 p. |
artikel |
4 |
DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene
|
Dolinsky, Luciana C.B |
|
2002 |
12 |
9 |
p. 845-848 4 p. |
artikel |
5 |
Diagnosis and Management of Peripheral Nerve Disorders
|
Reilly, Mary |
|
2002 |
12 |
9 |
p. 905-906 2 p. |
artikel |
6 |
Early onset of cardiomyopathy in two brothers with X-linked Emery–Dreifuss muscular dystrophy
|
Talkop, Ülvi-Astra |
|
2002 |
12 |
9 |
p. 878-881 4 p. |
artikel |
7 |
Editorial Board
|
|
|
2002 |
12 |
9 |
p. IFC- 1 p. |
artikel |
8 |
Exogenous Dp71 is a dominant negative competitor of dystrophin in skeletal muscle
|
Leibovitz, Sigalit |
|
2002 |
12 |
9 |
p. 836-844 9 p. |
artikel |
9 |
Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement
|
Uncini, A. |
|
2002 |
12 |
9 |
p. 874-877 4 p. |
artikel |
10 |
Fibrogenic cytokines and extent of fibrosis in muscle of dogs with X-linked golden retriever muscular dystrophy
|
Passerini, Laura |
|
2002 |
12 |
9 |
p. 828-835 8 p. |
artikel |
11 |
Functional domains of the nucleus: implications for Emery–Dreifuss muscular dystrophy
|
Maraldi, N.M |
|
2002 |
12 |
9 |
p. 815-823 9 p. |
artikel |
12 |
Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1
|
Tazir, M |
|
2002 |
12 |
9 |
p. 849-852 4 p. |
artikel |
13 |
Inclusion body myositis: morphological clues to correct diagnosis
|
Dahlbom, K. |
|
2002 |
12 |
9 |
p. 853-857 5 p. |
artikel |
14 |
Instructions to authors
|
|
|
2002 |
12 |
9 |
p. 907-908 2 p. |
artikel |
15 |
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA
|
Karadimas, Charalampos L |
|
2002 |
12 |
9 |
p. 865-868 4 p. |
artikel |
16 |
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families
|
Hadjigeorgiou, Georgios M |
|
2002 |
12 |
9 |
p. 824-827 4 p. |
artikel |
17 |
Stiff-person syndrome associated with oral isotretinoin treatment
|
Chroni, E |
|
2002 |
12 |
9 |
p. 886-888 3 p. |
artikel |
18 |
The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy
|
Elson, Joanna L |
|
2002 |
12 |
9 |
p. 858-864 7 p. |
artikel |
19 |
The Massachusetts General Hospital Handbook of Neurology
|
Nixon, John |
|
2002 |
12 |
9 |
p. 906- 1 p. |
artikel |
20 |
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 |
12 |
9 |
p. 889-896 8 p. |
artikel |
21 |
104th European Neuromuscular Centre (ENMC) International Workshop: Distal myopathies, 8–10th March 2002 in Naarden, The Netherlands
|
Udd, B |
|
2002 |
12 |
9 |
p. 897-904 8 p. |
artikel |