Volume 11; Issue 5

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Neuromuscular Disorders
Volume 11; Issue 5

Neuromuscular Disorders

Volume 11; Issue 5

1

Proximal myotonic myopathy and proximal myotonic dystrophy: Two different entities? The phenotypic variability of proximal myotonic syndromes

C. Schneider, C. Wessig, C.R. Müller, D. Brechtelsbauer, T. Grimm

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 1.78 MB

english, 2001

2

Rimmed vacuoles and the added value of SMI-31 staining in diagnosing sporadic inclusion body myositis

Marjon F.G van der Meulen, Jessica E Hoogendijk, Karl G.M Moons, Henk Veldman, Umesh A Badrising, John H.J Wokke

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 342 KB

english, 2001

3

Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?

J Philpot, S Counsell, G Bydder, C.A Sewry, V Dubowitz, F Muntoni

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 764 KB

english, 2001

4

The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity

O Dubourg, S Tardieu, N Birouk, R Gouider, J.M Léger, T Maisonobe, A Brice, P Bouche, E LeGuern

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 110 KB

english, 2001

5

A new mtDNA mutation in the tRNALeu(UUR) gene associated with ocular myopathy

Y Campos, J Gámez, A Garcı́a, A.L Andreu, J.C Rubio, M.A Martı́n, P del Hoyo, C Navarro, C Cervera, R Garesse, J Arenas

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 171 KB

english, 2001

6

A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA

Toshiko Nagashima, Hideo Kato, Shiro Maguchi, Takayo Chuma, Yukio Mano, Yu-ichi Goto, Ikuya Nonaka, Kazuo Nagashima

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 1.60 MB

english, 2001

7

Depressed myocardial fatty acid metabolism in patients with muscular dystrophy

M Momose, N Iguchi, K Imamura, H Usui, T Ueda, K Miyamoto, S Inaba

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 148 KB

english, 2001

8

Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with ‘de novo’ duplication of dystrophin gene

Norma Beatriz Romero, Pascale De Lonlay, Stéphane Llense, France Leturcq, Guy Touati, J-Andoni Urtizberea, Jean Marie Saudubray, Arnold Munnich, Jean Claude Kaplan, Dominique Récan

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 576 KB

english, 2001

9

Reference values of maximum isometric muscle force obtained in 270 children aged 4–16 years by hand-held dynamometry

E.A.C Beenakker, J.H van der Hoeven, J.M Fock, N.M Maurits

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 100 KB

english, 2001

10

Macrophagic myofasciitis associated with inclusion body myositis: a report of three cases

P Chérin, D Menard, P Mouton, J.F Viallard, C Le Hello, F.J Authier, R.K Ghérardi, M Coquet, S Herson, J.P Leroi

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 775 KB

english, 2001

11

A new mutation in the mitochondrial tRNAAla gene in a patient with ophthalmoplegia and dysphagia

M Spagnolo, G Tomelleri, G Vattemi, M Filosto, N Rizzuto, P Tonin

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 187 KB

english, 2001

12

Neuromuscular disorders: gene location

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 75 KB

english, 2001

13

Mitochondrial encephalomyopathies: gene mutation

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 52 KB

english, 2001

14

Instructions to authors

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 40 KB

english, 2001

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