Volume 9; Issue 4

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Neuromuscular Disorders
Volume 9; Issue 4

Neuromuscular Disorders

Volume 9; Issue 4

1

Immunolocalization of tumor necrosis factor-alpha and its receptors in inflammatory myopathies

Jan L De Bleecker, Veronique I Meire, Wim Declercq, Elisabeth H Van Aken

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 870 KB

english, 1999

2

A protein truncation test for Emery–Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations

Pia A.M de Koning Gans, Ieke Ginjaar, Egbert Bakker, John R.W Yates, Johan T den Dunnen

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 82 KB

english, 1999

3

Dysfunction of sensory nerves during attacks of hypokalemic periodic paralysis

J.S Inshasi, V.P Jose, C.A van der Merwe, R.F Gledhill

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 47 KB

english, 1999

4

Myopathy with trabecular muscle fibers

Boaz Weller, Stirling Carpenter, Hanns Lochmüller, George Karpati

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 759 KB

english, 1999

5

Muscle ultrasound in the assessment of suspected neuromuscular disease in childhood

S.M Zuberi, N Matta, S Nawaz, J.B.P Stephenson, R.C McWilliam, A Hollman

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 370 KB

english, 1999

6

Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients

M Gennarelli, M Pavoni, P Amicucci, C Angelini, E Menegazzo, G Zelano, G Novelli, B Dallapiccola

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 209 KB

english, 1999

7

Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy

Noriaki Hattori, Misako Kaido, Toshinori Nishigaki, Koji Inui, Harutoshi Fujimura, Tomoya Nishimura, Takashi Naka, Takanori Hazama

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 622 KB

english, 1999

8

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

A Simonati, G.M Fabrizi, A Pasquinelli, F Taioli, T Cavallaro, M Morbin, G Marcon, M Papini, N Rizzuto

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 868 KB

english, 1999

9

Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient

M.-Cl Belpaire-Dethiou, K Saito, Y Fukuyama, E Kondo-Iida, T Toda, Th Duprez, C Verellen-Dumoulin, P.Y.K Van den Bergh

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 1.01 MB

english, 1999

10

Germline mosaicism of MPZ Gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosis

Hiroshi Takashima, Masanori Nakagawa, Akio Kanzaki, Yoshito Yawata, Takashi Horikiri, Toshio Matsuzaki, Masahito Suehara, Shuji Izumo, Mitsuhiro Osame

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 1.01 MB

english, 1999

11

Myasthenia gravis and peripheral neuropathy in an amazon indigenous female

EIza Dias-Tosta, Garlos Santos Kuckeihaus, Katya Amaral

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 26 KB

english, 1999

12

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

G Pepe, E Bertini, B Giusti, T Brunelli, P Comeglio, B Saitta, L Merlini, M.L Chu, G Federici, R Abbate

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 490 KB

english, 1999

13

59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17–19 April 1998, Soestduinen, The Netherlands

Klaus Zerres, Kay E. Davies

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 80 KB

english, 1999

14

4th Workshop of the European CMT-Consortium – 62nd ENMC International Workshop: Rare forms of Charcot-Marie-Tooth disease and related disorders. 16–18 October 1998, Soestduinen, The Netherlands

Jean-Jacques Martin, Alexis Brice, Christine Van Broeckhoven

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 110 KB

english, 1999