Volume 7; Issue 6-7

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Neuromuscular Disorders
Volume 7; Issue 6-7

Neuromuscular Disorders

Volume 7; Issue 6-7

1

Distrubances of neuromuscular interaction may contribute to muscle weakness in spinal muscular atrophy

Linda Greensmith, Gerta Vrbová

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 370 KB

english, 1997

2

Russell J.M. Lane,Editors, ,Handbook of Muscle Diseases (1996) Marcel Dekker,San Diego, CA 0-8247-9494-X 740.

Peter R.W. Fawcett

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 97 KB

english, 1997

3

I. Loudon,Editors, ,Western Medicine An Illustrated History (1997) Oxford University Press,New York 0-19-820509-0 347.

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 209 KB

english, 1997

4

Translated by Stephen Finn. Published ,Orel, V. Gregor Mendel The First Geneticist x + 363 pp. Price £29.50. (1996) Oxford University Press,Oxford 0-19-854774-9.

Alan E.H. Emery

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 115 KB

english, 1997

5

Changes of laminin β2 chain expression in congenital muscular dystrophy

Ronald D. Cohn, Ralf Herrmann, Ulla M. Wewer, Thomas Voit

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 524 KB

english, 1997

6

Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of ‘double trouble’

Juan C. Rubio, Miguel A. Martín, Juan Bautista, Yolanda Campos, Dolores Segura, Joaquín Arenas

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 227 KB

english, 1997

7

Oxidative stress as a potential pathogenic mechanism in an animal model of Duchenne muscular dystrophy

Robert J. Ragusa, Ching K. Chow, John D. Porter

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 832 KB

english, 1997

8

Toxoplasmic polymyositis revisited: case report and review of literature

Miroslav Cuturic, Ghazala R. Hayat, Carole A. Vogler, Alvaro Velasques

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 601 KB

english, 1997

9

42nd ENMC Sponsored International Workshop: X-linked cardiomyopathies 21–23 June 1996, Naarden, The Netherlands

Giovanni Nigro, Francesco Muntoni

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 652 KB

english, 1997

10

48th ENMC International Workshop: Drug Trials and Clinical Research in ALS 12–14 January 1997, Naarden, The Netherlands

J.M.B. Vianney de Jong

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 295 KB

english, 1997

11

49th ENMC-Sponsored International Workshop: Fibrodysplasia (Myositis) Ossificans Progressiva (FOP) 14–16 February 1997, Naarden, The Netherlands

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 368 KB

english, 1997

12

Congenital myopathies: basic concepts and classification

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 118 KB

english, 1997

13

Congenital myopathies: clinical aspects and management

Victor Duhowitz

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 118 KB

english, 1997

14

Immunocytochemical studies in congenital myopathies

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 249 KB

english, 1997

15

Nemaline myopathy and the myotubular myopathies

Carina Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

16

Genetics of central core disease and its relationship to malignant hyperthermia

Clemens R. Mueller

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

17

Congenital myopathies with inclusion bodies

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

18

Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with severe nemaline myopathy

P. Tan, J. Briner, E. Boltshauser, K. North, M.R. Davis, S.D. Wilton, C. Wallgren-Pettersson, N.G. Laing

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 264 KB

english, 1997

19

Dystrophic central core disease or muscular dystrophy with central cores? A possible new autosomal recessive disorder with central core disease

A. Manzur, F. Muntoni, C.A. Sewry, J. Ziprin, V. Dubowitz

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

20

Minicore myopathy: cave noctem!

N. Goemans, G. Buyse, K. De Boeck, M. Lammens, P. Casaer

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

21

Intermuscular variation in X-linked myotubular myopathy

T.R. Helliwell, I.H. Ellis, R.E. Appleton

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

22

MTMI gene mutations in Japanese patients with X-linked myotubular myopathy

Ichizo Nishino, Yu-chi Goto, Kiichi Arahata, Ikuya Nonaka

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 266 KB

english, 1997

23

Abnormal expression of integrin a7b1D in merosin deficient congenital muscular dystrophies

Yukiko K. Hayashi, Yu-ichi Goto, Ikuya Nonaka, Kiichi Arahata

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

24

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI

H. Topaloglu, B. Talim, N. Vignier, A. Helbling-Leclerc, M. Yetuk, M.Z. Akçören, M. Çaglar, G. Kale, P. Guicheney

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

25

Molecular evidence of clinical heterogeneity in Fukuyama type congenital muscular dystrophy

Kayoko Saito, Eri Kondo-Iida, Yukiko Kawakita, Kiyoko Ikeya, Tadayuki Ishihara, Tatsushi Toda, Makiko Osawa, Yukio Fukuyama

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

26

Restrictive cardiomyopathy and congenital myopathy: a new disease due to a defective transition from neonatal to adult myosin?

Antonio Toscano, Giuseppe Vita, Maria C. Monici, Maria P. Calabrò, Francesca Foti, Carmelo Rodolico, Paolo Girlanda, C. Messina

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 261 KB

english, 1997

27

Central core and nemaline rods in the same patient

P. Diószeghy, E. Pallagi, M. Molnár, P. Molnár

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

28

Case presentation of a boy with X-linked myotubular myopathy

S. Lindal, I.H. Rasmussen, I. Lund, M. Lorentzen, C. Hapnes, H. Bomann

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

29

Congenital cytoplasmic body myopathy with survival motor neuron (SMN) gene deletion or Werdnig-Hoffman disease?

J. Vajsar, V. Jay, P. Ray, J. Siegel-Bartelt

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

30

Malignant hyperthermia in a patient with King Denborough syndrome lack of correlation with the RYR gene mutation

B. Echenne, F. Rivier, A. Roubertie, J. Lunardi, E.M. Chambaz

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

31

Bilateral foot drop as the first symptom of nemaline myopathy

D.G. Hoeksema, W.H.J.P. Linssen, L.M.E. Smit

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

32

A patient with myopathic arthrogryposis multiplex congenita who died of hemorrhagic pulmonary infarction

T. Ishihara, J. Kawamura, T. Tamura, T. Nishimura

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

33

Multi minicore disease myopathy: 20 cases

B. Estournet, A. Barois, J. Bataille

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

34

Myotubular myopathy in a female

T.R. Helliwell, R.E. Appleton, I.H. Ellis

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

35

Congenital muscular dystrophy and cerebellar hypoplasia. An original cerebro-muscular syndrome

B. Echenne, F. Rivier, M. Tardieu, M. Brive, D. Mornet

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

36

Autosomal dominant type of congenital muscular dystrophy

F.J.M. Gabreëls, Q.H. Leyten, H.J. ter Laak, W.O. Renier, B. Ceulemans, J.J. Martin

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

37

X-linked vacuolated myopathy: a new family

M. Coquet, D. Fontan

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

38

Protection of extraocular muscle in murine merosin-deficient congenital muscular dystrophy correlates with normal cation homeostasis

J.D. Porter, P. Karathanasis

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

39

Long-term prognosis in congenital muscular dystrophy without mental retardation

Helena Pihko, Tuula Louhimo, Märta Donner

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 257 KB

english, 1997

40

Merosin positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families

H. Topaloglu, M. Yetük, B. Talim, M.Z. Akçören, M. Çaglar

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 131 KB

english, 1997

41

Brain involvement in a series of cases with merosin-positive congenital muscular dystrophy

C.P. Trevisan, F. Martinello, M. Armani, E. Pastorello, A. Piazza, M. Fanin, C. Angelini, A.P. Tormene, G. Lanzi, A. Berardinelli, P. Boffi

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 131 KB

english, 1997

42

Feeding problems in merosin-deficient congenital muscular dystrophy

J. Philpot, A. Bagnall, C. King, F. Goodwin, V. Dubowitz, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 131 KB

english, 1997

43

Normal visual function in children with pure congenital muscular dystrophy

E. Mercuri, J. Philpot, J. Atkinson, J. Grueter-Andrew, C.A. Sewry, V. Dubowitz, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 258 KB

english, 1997

44

Mutations in the LAMA2 gene in patients with muscular dystrophy due to partial merosin deficiency

I. Naom, M. D'Alessandro, C.A. Sewry, A. Ferlini, H. Topaloglu, V. Dubowitz, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

45

Clinical presentation in merosin-positive congenital muscular dystrophy

J. Philpot, M. Brockinton, C.A. Sewry, V. Dubowitz, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

46

Skewed X inactivation in manifesting carries of Duchenne muscular dystrophy

Mieko Yoshioka, Tohru Yorifuji, Izuru Mituyoshi

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

47

Genetic counseling and molecular analysis of muscular dystrophy families in Israel

Cyril Legum, Avi Orr-Urtreger, Adi Ben Yehuda, Chedva Perek, Sigal Tsabari, Ruth Shomrat

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

48

Dystrophin associated glycoprotein complex in a particular case of Becker muscular dystrophy

F. Rivier, A. Robert, Y. Chaix, M.B. Delisle, A. Bonet-Kerrache, B. Echenne, D. Mornet

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

49

Becker muscular dystrophy with predominantly distal myopathy

M.F. Phillips, R. Quinlivan

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

50

Exon 25 frameshift deletion associated with intermediate Duchenne/Becker phenotype

M.F. Phillips, S. Abbs, T. Helliwell, R.H.T. Edwards, J. Fenton May, P.S. Harper, M. Dunckley, R. Quinlivan

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

51

A longitudinal study of forced vital capacity in Duchenne muscular dystrophy

M.F. Phillips, R. Quinlivan, R.H.T. Edwards, P.M.A. Calverley

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

52

Duplication of dystrophin exon 18 in a DMD patient with mental retardation

Thomas Bettecken, Sibylle Jakubiczka, Ronald D. Cohn, Arpad von Moers, Astrid Speer, Angela Weber, Thomas Voit, Christoph Hübner

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 259 KB

english, 1997

53

Pitfalls in prenatal diagnosis of DMD due to confined placental mosaicism of X-chromosomes: prenatal diagnosis and fetopathological findings in a fetus with deletion of exon 68–72 of dystrophin gene

S. Vondran, Cl. Wolf, J. Edelman, S. Strenge, B. Thamm, H. Thiele, U. Froster

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

54

Caveolin-3 in skeletal muscle fibres of Duchenne muscular dystrophy and mdx mouse

Y. Hagiwara, Y. Nishina, M. Imamura, M. Yoshida, T. Kikuchi, I. Nonaka, H. Yorifuji

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

55

Prevalence of Becker muscular dystrophy in south west of France

X. Ferrer, P. Gaïda, E. Hermosilla, D. Fontan, F. Leturcq, D. Recan, M. Coquet, A. Arnaud, A. Lagueny, J. Julien

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

56

Altered distribution of plectin/HD1 in dystrophinopathies

Rolf Schroder, Rustam R. Mundegar, Michaela Treusch, Ingmar Blumcke, Thomas M. Magi

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 265 KB

english, 1997

57

Abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related

J. Taylor, F. Muntoni, V. Dubowitz, C.A. Sewry

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

58

Learning difficulties in Duchenne muscular dystrophy: characterisation and correlation with genetic mutation

A.M. Male, A.M. Adolph, C. Madigan, C.A. Berry, S.A. Robb

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

59

Cardiac involvement in Duchenne muscular dystrophy (DMD): usefulness of instrumental non-invasive surveillance

I. Genuini, C. Santini, A. Dello Russo, J. Pellanda, V. Giglio, F. Sciarra, G. Culla, F. Mangiola, G. Galluzzi, E. Ricci

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

60

Inspiratory muscle training in patients with Duchenne muscular dystrophy

M. Wild, H. Lahrmann, T. Wanke, K. Toifl, U.A. Zifko

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 265 KB

english, 1997

61

Standardized evaluation of respiratory muscle endurance in children with progressive muscular dystrophy

S. Matecki, M. Hayot, F. Rivier, M. Ramonatxo, B. Echenne, C. Prefaut

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

62

Multiple transcripts in the exons 47–53 region of the dystrophin gene: does this influence dystrophin expression in normal and dystrophic tissues?

Alessandra Ferlini, Caroline Sewry, Victor Dubowitz, Francesco Muntoni

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

63

Dystrophinopathy or sarcoglycanopathy: the importance of a full diagnostic assessment in suspected manifesting carriers of Duchenne and Becker muscular dystrophy

K. Bushby, L.V.B. Anderson, C.A. Sewry, R. Pogue, J. Taylor, C. Pollitt, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

64

Cognitive and psychological profile of a Tunisian population of severe childhood autosomal recessive muscular dystrophy (SCARMD)

N. Miladi, J.P. Bourguignon, F. Hentati

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 262 KB

english, 1997

65

Abnormal expression of β-dystroglycan in a patient with limb-girdle muscular dystrophy (LGMD)

Mari Auranen, Seppo Soinila, Hannu Somer

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 131 KB

english, 1997

66

The clinical and histopathological spectrum of limb girdle syndrome in Egypt

M.A. Etribi, I. Nonaka, H. Sugita, M. Banoubi, A. Dewidar, N. El-Badawy, S. Ashour, N. Fahmy

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 131 KB

english, 1997

67

Known and novel sarcoglycan gene mutations in Portuguese patients

M.R. dos Santos, E.M. Vieira, M.G. Ribeiro, M.M. Santos, R. Gomes, A. Guimaräcs

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 131 KB

english, 1997

68

Two sisters with autosomal recessive limb-girdle muscular dystrophy with gamma-sarcoglycanopathy (LGMD2C)

D. Broere, W.H.J.P. Linssen, L.M.E. Smit, H.B. Ginjaar

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 263 KB

english, 1997

69

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

H.B. Ginjaar, A. vd Kooi, H. Ceelie, A.L.J. Kneppers, P.G. Barth, H.F.M. Busch, J.H.J. Wokke, H. Kerkhoff, D. Broere, L.V.B. Anderson, C.G. Bönnemann, M. Jeanpierre, E. Bakker, M. de Visser, G.J.B. v

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

70

Discordant clinical outcome in patients with limb girdle muscular dystrophy 2C showing the same deletion pattern

L. Politano, G. Nigro, L.I. Comi, V. Nigro

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

71

Gamma-sarcoglycan deficiency; specific mutation for the gypsy patients

J. Colomer, A. Lasa, P. Gallano, M. Guitet

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

72

Alpha-sarcoglycan analysis of limb-girdle type muscular dystrophy

Kiyoko Ikeya, Kayoko Saito, Du Juan, Momoko Miyakawa, Yukiko Kawakita, Makiko Osawa

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 260 KB

english, 1997

73

Heterogeneous clinical spectrum of alpha-sarcoglycanopathies (adhalinopathy) in Saudi Arabian patients

S. Bohlega, E. Cupler, R. Hessler, O. Dabbagh, E. Chaves

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

74

Is the del521T mutation in the gamma-sarcoglycan gene a founder mutation in Mediterranean countries?

F. Leturcq, K. Azibi, F. Piccolo, N. Deburgrave, V. Marin, C. de Toma, M. Chaouch, A. Reghis, F. El Kerch, A. Sefiani, A. Sbiti, J-C. Kaplan, M. Jeanpierre

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

75

Genetic and allelic heterogeneity of LGMD in North Africa

K. Azibi, M. Chaouch, A. Reghis, F. El Kerch, A. Sbiti, A. Sefiani, F. Leturcq, M. Jeanpierre, A. Carrié, F. Piccolo, C. Beldjord, J.-C. Kaplan

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

76

Clinical and pathological study of 80 patients with muscular dystrophy in Algeria

N. Terki, A. Masmoudi, M. Chaouch, M. Tazir, M. Ait-Kaci, D. Grid

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 262 KB

english, 1997

77

Limb girdle muscular dystrophy with calpain deficiency in Guipuzcoa (Basque country, Spain)

J.A. Urtizberea, M. Urtasun, I. Richard, A. Saenz, J.J. Poza, A.M. Cobo, A. Lopez de Munain, J.S. Beckmann

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 136 KB

english, 1997

78

Calpain-3 deficiency: a mild muscular dystrophy in childhood: molecular and clinical findings

P. Dinçer, I. Richard, M.Z. Akçören, J.A. Urtizberea, J.S. Beckmann, H. Topaloglu

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 136 KB

english, 1997

79

Immunofluorescence and Western blot analysis on human skeletal muscle using antibodies directed against different regions of the muscle-specific calpain

Norma Beatriz Romero, Luc Camoin, C. Federici, I. Richard, F. Fougerousse, J.L. Guillaume, M. Hattab, Marie-Armelle Cheval, F.M.S. Tomé, Y. Eshdat, M. Fardeau, J. Beckmann, A.D. Strosberg

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 136 KB

english, 1997

80

Some difficulties in defining the time when the first affection of mimic muscles appear in patients with autosomal dominant facioscapulolimb muscular dystrophy, type 2 (FSLD2) (or facioscapuloperoneal)

V. Kazakov, D. Rudenko

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 131 KB

english, 1997

81

MRI to evaluate muscle involvement in patients with autosomal dominant facioscapulolimb muscular dystrophy, type 2 (FSLD2) (or facioscapuloperoneal)

D. Rudenko, V.M. Kazakov, L. Tutin, E. Shelkoplyas

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 131 KB

english, 1997

82

High frequency of epilepsy and mental retardation in early onset 4q35-facioscapulohumeral muscular dystrophy with huge deletion of KpnI repeats

Masanori Funakoshi, Kanako Goto, Kyozo Yonemoto, Kim Bong Yoon, Ikuya Nonaka, Kiichi Arahata

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 131 KB

english, 1997

83

The impact of the molecular data on clinical practice in facio-scapulohumeral muscular dystrophy (FSHD)

Enzo Ricci, Barbara Merico, Giancarlo Deidda, Giuliana Galluzzi, Gabriella Silvestri, Stefania Cacurri, Screnella Servidei, Luciano Felicetti, Pietro Tonali

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 260 KB

english, 1997

84

Penetrance of the FSHD mutation differs according to the D4Z4 repeat number

C. de Toma, S. Chiron, P. Laforet, J.A. Urtizberea, B. Eymard, M. Fardeau, J-C. Kaplan, M. Jeanpierre

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

85

Immunocytochemical detection of emerin within the nuclear matrix

S. Squarzoni, P. Sabatelli, A. Ognibene, D. Toniolo, L. Cartegni, F. Cobianchi, S. Petrini, L. Merlini, N.M. Maraldi

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

86

Clinical and genetic analyses of Emery-Dreifuss muscular dystrophy and rigid spine syndrome

Shinichiro Kubo, Kim Bong Yoon, Toshifumi Tsukahara, Kiichi Arahata

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

87

Early onset X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

C.A. Sewry, E.J. Lichtarowicz-Krynska, S.B. Manilal, D. Recan, J. Taylor, S. Llense, J-C. Kaplan, V. Dubowitz, G.E. Morris, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 259 KB

english, 1997

88

X-linked Emery-Dreifuss muscular dystrophy: molecular diagnosis by protein analysis and use of the skin biopsy in female carriers

J. Colomer, J. Pradas, M. Guitet, J. Vila, J. Corbera, S. Manilal, G.E. Morris

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

89

An early-onset autosomal recessive muscular dystrophy with distal wasting and rigidity of the spine

F. Muntoni, J. Taylor, V. Dubowitz, C.A. Sewry

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

90

A family with severe pseudo-dominant Emery-Dreifuss muscular dystrophy due to emerin deficiency

D. Récan, S. Llense, J.-C. Barbot, F. Leturcq, N. Deburgrave, J.-M. Dupont, P. Warrot, C. Giraudet, F. Fraisse, D. Amsallem, J. Bensaid, J.A. Urtizberea, G.E. Morris, J.-C. Kaplan

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

91

Comparison of three functional assessment scales in neuromuscular diseases

Ayse Karaduman, Cüneyt Akgöl, Öznur Tunca, Özgen Aras, Yavuz Yakut, Haluk Topaloglu

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 264 KB

english, 1997

92

Myopathy/rhabdomyolysis in patients after heart transplantation by presurgical treatment with lipid-lowering drugs? Interaction of cyclosporine and HMG-CoA reductase inhibitor therapy?

U.P. Ketelsen, D. Trenk, E.M. Eschenbruch, P.J. Tollenaere

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

93

A survey of neuromuscular disorders in children in western Sweden

Már Tulinius, Anna-Karin Kroksmark, Niklas Darin

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

94

Critical illness myopathy unrelated to corticosteroids or neuromuscular blocking agents: myopathy-myosin-critical illness

N. Deconinck, V. Van Parijs, P.F. Laterre, M. Reynaert, R. Vormezeele, P. Van den Bergh

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 261 KB

english, 1997

95

Critical illness myopathy: a clinical, electrophysiological and pathological study of ten cases

C. Navarro, S. Teijeira, J.M. Fernandez, J. Gamez, M. Palomar, C. Cervera

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

96

Etiopathogenic factors of bladder dysfunctions in the neuromuscular diseases

G.L. Viet, C. Donze, S. Delattre, A. Thevenon

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

97

Therapeutic effects of tocainide and mexiletine analogs on myotonic MTO and ADR mice

A. De Luca, F. Natuzzi, G. Falcone, S. Pierno, G. Lentini, A. Duranti, C. Franchini, V. Tortorella, D. Conte Camerino

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

98

Determining physical fitness levels of children with neuromuscular dyseases

Ayse Karaduman, Mehmet Karakaya, Volga Bayrakçi, Kylyçhan Bayar, Öznur Tunca, Özgen Aras, Haluk Topaloglu

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 255 KB

english, 1997

99

Effect of vitamin B6 in McArdle's disease: a strategic case study

Joanne Phoenix, Pamela Hopkins, Clare Bartram, Robert J. Beynon, Rosaline C.M. Quinlivan, Richard H.T. Edwards

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 125 KB

english, 1997

100

The three faces of lysosomal glycogen storage

D.H. Mellor, C. Sullivan, V. Ramesh, T. Martland

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 125 KB

english, 1997

101

Andersen's syndrome with absent tubular aggregates in muscle biopsy

M. Al-Jumah, V. Cwik, E. Johnston

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 125 KB

english, 1997

102

Vitamin B6 supplementation in McArdle's disease: a randomised, double-blind crossover trial

Joanne Phoenix, Pamela Hopkins, Clare Bartram, Robert J. Beynon, Rosaline C.M. Quinlivan, Richard H.T. Edwards

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 256 KB

english, 1997

103

Effects of chronic administration of minoxidil and acetazolamide on an animal model of hypokalemic periodic paralysis (HOPP)

D. Tricarico, M. Barbieri, R. Mallamaci, R. Capriulo, D. Conte Camerino

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

104

Clinical and morphological study of a family with a lipid storage myopathy

C. Triki, M. Meziou, S. Samet, A. Ben Chehida, R. Jlidi, C. Mhiri

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

105

31P-NMR spectroscopy in muscle phosphofructokinase deficiency

T. Grehl, M. Vorgerd, M. Tegenthoff, J.-P. Malin, J. Zange

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

106

Primary AMP deaminase deficiency in childhood

C. Bruno, C. Minetti, S. Shanske, M. Bado, G. Cordone, S. DiMauro

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 260 KB

english, 1997

107

Abnormal muscle energy metabolism in chronic fatigue syndrome patients: evidence from muscle histometry, spectroscopy and in vitro mitochondrial function studies

Russell J.M. Lane, Michael C. Barrett, Doris M. Taylor, John Cooper, Anthony H. Schapira

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

108

Cytochrome c oxidase deficiency linked to a new stop codon point mutation in mitochondrial DNA

M.G. Hanna, I.P. Nelson, S. Rahman, A.H.V. Schapira, J.M. Cooper, J.A. Morgan-Hughes, N.W. Wood

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

109

Threshold expression of the tRNAlys A8344G mutation in single muscle fibres

A.-R. Moslemi, M. Tulinius, E. Holme, A. Oldfors

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

110

Mitochondrial dysfunction with MERRF point-mutation in nerve and mucle tissue of a patient with multiple symmetric lipomatosis

H. Reichmann, M. Naumann, R. Kiefer, P. Seibel, K. Toyka

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

111

Decreased cerebrovascular reserve capacity in patients with various types of mitochondrial disorders

M. Molnar, A. Valikovicz, P. Diószeghy, D. Bereczki, F. Mechler, L. Csiba

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 260 KB

english, 1997

112

Peripheral neuropathy associated with mitochondrial myopathy

Chun-Che Chu, Chin-Chang Huang, Yau-Huei Wei

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

113

Mitochondrial myopathy with demyelination polyneuropathy

N. Gouider-Khouja, M. Dabbeche, I. Turki, S. Oueslati, N. Miladi, M. Ben Hamida, F. Hentati

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

114

Thymomagenic myasthenia and demyelinization - immunodepended continuum

Roman R. Shakarishvili, Nana B. Kvirkvelia, Dali M. Kankava

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

115

Oral muscle functions in patients with myasthenia gravis

F.G. Weijnen, A. van der Bilt, H.W. van der Glas, F. Bosman, J.H.J. Wokke

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 269 KB

english, 1997

116

Thymoma associated with myasthenia gravis in a 12 year old girl

N. Goemans, S. Potgieter, L. Lagae, P. Casaer

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 136 KB

english, 1997

117

Myasthenia in children: 38 cases

B. Estournet-Mathiaud, A. Barois, L. Viollet

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 136 KB

english, 1997

118

Congenital myasthenic syndromes

N. Gouider-Khouja, I. Turki, S. Oueslati, N. Miladi, M. Ben Hamida, F. Hentati

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 136 KB

english, 1997

119

Electron transport chain activities in dermatomyositis

J. Casademont, O. Miro, J.M. Grau, F. Cardellach

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 270 KB

english, 1997

120

Antimyosin scintigraphy compared with MRI in inflammatory myopathies

Mervi Löfberg, Kristian Liewendahl, Antti Lamminen, Hannu Somer

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

121

Dermatomyositis and Whipple's disease

T.R. Helliwell, N. Mapstone, R.E. Appleton

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

122

Respiratory muscle involvement in dermatomyositis

H Lahrmann, W Grisold, UA Zjfko

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

123

New species of muspiceoid nematode causes polymyositis

Xenia Dennett, Stanley Siejka, John Andrews, Ian Beveridge, David Spratt

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 264 KB

english, 1997

124

Absence of characteristic histopathology in two patients with inclusion body myositis

J.E. Hoogendijk, M.F.G. van der Meulen, G.H. Jansen, H. Veldman, J.H.J. Wokke

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

125

Progressive swelling and stiffness of the extremities: another case of eosinophilic fasciitis

D. Broere, J. vd Bosch, H.P.R. Hellemans, W.L.E. Vasmel, W.H.J.P. Linssen

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

126

Incidence of CMTIA in a pediatric neuromuscular clinic

Raul G. Escobar, Susan T. Iannaccone

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

127

CMT with vocal cord paralysis, type 2C

Susan T. Iannaccone, Sharon P. Nations, Wilson W. Bryan, Gil I. Wolfe, Richard J. Barohn

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 262 KB

english, 1997

128

Quadruple A syndrome in two adolescents

Susan T. Iannaccone, Janith Mills, Noel Baker

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

129

Charcot-Marie-Tooth disease type 1 and 2: analysis of sensory dysfunction with quantitative determination of somatosensory thresholds

U.B. Ericson, K. Borg

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

130

Use of posterior tibial tendon transfer anteriorly through the interosseous membrane in the treatment of foot & ankle deformities for the young Charcot-Marie-Tooth patient

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

131

Clinical, electrophysiological and histological analysis in 4 patients with hereditary sensory neuropathy and pyramidal syndrome

M. Zouari, I. Turki, S. Belal, Ch. Ben Hamida, M. Ben Hamida, F. Hentati

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 266 KB

english, 1997

132

Hereditary sensory neuropathy associated with muscular atrophy affecting 7 members of one kindred

M. Zouari, Ch. Ben Hamida, S. Belal, I. Turki, M. Ben Hamida, F. Hentati

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

133

Polyneuropathy in 8 glue-sniffers

I. Turki, O. Ben Nefissa, F. Kechrid, N. Gouider-Khouja, S. Belal, F. Hentati, M. Ben Hamida

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

134

Proximal conduction block studies and response to intravenous immunoglobulin therapy in multifocal motor neuropathy

A. Jaspert, H. Grehl, D. Claus, B. Neundörfer

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

135

Differential diagnosis of ataxic syndromes in childhood: a five years experience of the Child Neurology and Psychiatry Service in Reggio Emilia

A. Pini, G. Bertani, G. Gobbi

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

136

Molecular genetic analysis helps in diagnostics of autosomal dominant cerebellar ataxias

O. Ovtchinnikova, E. Druzina, S. Illarioshkin, E. Markova, I. Ivanova-Smolenskaya

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

137

Repeat expansion and phenotypic variability of Friedreich's ataxia in families of different ethnic origin from European-Asian region

I. Ovchinnikov, S. Illarioshkin, G. Bagyeva, N. Miklina, I. Ivanova-Smolenskaya

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

138

Clinical and genetic study of a case with hereditary vitamin e deficiency

F. Martinello, P. Fardin, M. Ottina, L. Cavalier, M. Koenig, C.P. Trevisan

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

139

A family with isolated vitamin E deficiency and Friedreich ataxia phenotype not linked to chromosome 8q

Zamir Shorer, Ruti Parvari, Gherta Brill, Ben-Ami Sella, Shimon Moses

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

140

Overview of distal myopathies: from the clinical to the molecular

Robert C. Griggs

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 262 KB

english, 1997

141

Welander distal myopathy: clinical, pathophysiological and molecular aspects

Borg, G. Åhlberg, M. Anvret, L. Edström

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

142

Tibial muscular dystrophy

H. Somer, B. Udd, A. Paetau, H. Kalimo

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

143

Physical mapping of the Miyoshi myopathy/LGMD2B locus on chromosome 2p13

J. Liu, C.Y. Wu, K. Bossie, K. Bejaoui, B.A. Hosler, E. Schurr, P. de Jong, R.H. Brown Jr.

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

144

Distal myopathy with rimmed vacuole formation (DMRV)

Ikuya Nonaka, Nobuyuki Murakami, Mitsuru Kawai

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 267 KB

english, 1997

145

Bethlem myopathy, a type VI collagen disorder

M. de Visser, G.J. Jöbsis, H. Keizers, J.P. Vreijling, R.A. Wolterman, P.G. Barth, J.M. Boers, F. Baas, P.A. Bolhuis

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

146

Immunohistochemistry and ultrastructure of rimmed vacuolar fibers in tibial muscular dystrophy

Bjarne Udd, Hannu Somer, Anders Pactau, Hannu Kalimo

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 134 KB

english, 1997

147

Linkage in tibial muscular dystrophy (TMD) on chromosome 2q31–33

Henna Haravuori, Paivi Makela-Bengsl, Bjarne Udd, Leena Pulkkinen, Juhani Partanen, Hannu Somer, Leena Peltonen

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

148

Refinement of the linkage region of the distal myopathy MPD1 and exclusion of candidate genes

N. Binz, K. Nowak, A. Butler, C. Meredith, N.G. Laing

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

149

Early onset autosomal dominant myopathy with external ophthalmoplegia and rimmed vacuoles in muscle fibers

N. Darin, M. Kyllerman, J. Wahlström, T. Martinsson, A. Oldfors

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

150

LGMD 2E in Tunisia is caused by a missense mutation Arg91Leu in β-sarcoglycan

C. Bönnemann, J. Wong, C. Ben Hamida, M. Ben Hamida, F. Hentati, L. Kunkel

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

151

Mechanism of the 4q35 rearrangement in facio-scapulo-humeral muscular dystrophy (FSHD): sequence homology of 4qter and 10qter loci favors the instability of subtelomeric KpnI repeats

Luciano Felicetti, Giancarlo Deidda, Enzo Ricci, Giuliana Galluzzi, Stefania Cacurri, Barbara Merico, Serenella Servidei, Luca Colantoni, Pietro Tonali

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 264 KB

english, 1997

152

Autosomal dominant late adult onset distal myopathy

I. Penisson-Besnier, C. Dumez, D. Chateau, F. Dubas, M. Fardeau

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

153

Progression of muscle involvement in Miyoshi myopathy by CT and MRI muscle imaging

G. Meola, V. Sansone, G. Rotondo, M. Sterlicchio, A. Jabbour

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

154

Distal myopathy of Miyoshi type: report of 21 French cases

B. Eymard, P. Laforet, F.M.S. Tomé, H. Collin, J.P. Leroy, J.J. Hauw, M. Fardeau

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

155

Miyoshi myopathy in Saudi Arabia

Edward J. Cupler, Saeed Bohlega, Richard Hessler, Bent Stigsby, Donald McLean

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 268 KB

english, 1997

156

Distal myopathy and limb-girdle muscular dystrophy in the same family: one gene for different phenotypes?

Corrado Angelini, Marina Fanin, Elisabetta Menegazzo

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 137 KB

english, 1997

157

Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration

Thierry Kuntzer, Alexander Lobrinus, Robert C. Janzer, Jean-Marie Matthieu

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 137 KB

english, 1997

158

Miyoshi-type distal muscular dystrophy: clinical features of 24 Dutch patients

W.H.J.P. Linssen, M. De Visser, N.C. Notermans, J.H.J. Wokke, P.A. Van Doorn, C.J. Höweler, A.E.J. De Jager

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 137 KB

english, 1997

159

Distal myopathy of Miyoshi and Nonaka types: a clinical, pathological and quantitative EMG study of 7 cases

J.M. Fernandez, J. Gamez, C. Cervera, J.A. Cortes, F. Branas, A. Teijeiro, R. Fernandez, S. Teijeira, C. Navarro

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 271 KB

english, 1997

160

Welander hereditary distal myopathy, a comparison to hereditary IBM (inclusion body myositis) and autosomal recessive distal myopathy with regard to molecular genetics

Gabrielle Åhlberg, Kristian Borg, Lars Edström, Maria Anvret

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

161

Autosomal recessive oculopharyngodistal myopathy in a Japanese family: investigations in light of distal myopathy with rimmed vacuoles and OPMD

E. Uyama, M. Tokunaga, D. Chateau, F.M.S. Tomé, B. Brais, M. Uchino

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

162

A novel type of autosomal dominant myopathy with rimmed vacuoles

K. Borg, S. Arnardottir, A. Melberg, K-G Henriksson, E. Stålberg, A. Oldfors, T. Ansved

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

163

Epidemiology of inclusion body myositis in the Netherlands

U.A. Badrising, M. Maat-Schieman, S.G. van Duinen, P. van Doorn, B. van Engelen, F. van den Hoogen, J.E. Hoogendijk, C.J. Höweler, A.E.J. De Jager, F.G.I. Jennekens, P. Koehler, H. van der Leeuw, M. d

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 259 KB

english, 1997

164

The onset and distribution of muscle weakness in inclusion body myositis (IBM)

U.A. Badrising, M. Maat-Schieman, S.G. van Duinen, P. van Doorn, B. van Engelen, F. van den Hoogen, J.E. Hoogendijk, C.J. Höweler, A.E.J. De Jager, F.G.I. Jennekens, P. Koehler, H. van der Leeuw, M. d

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

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english, 1997

165

Hereditary myopathy with rimmed vacuoles: report of two unusual pedigrees

S. Schaeffer, O. Presles, M. Hamel, A. Caron, C. Berthelin, F. Chapon

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 125 KB

english, 1997

166

rp-HPLC fractionation of muscle proteins as an initial step for the identification of autoantigens in inclusion body myositis (IBM)

J.J. Verschuuren, C.P.W. Geleijns, J.M. van Noort, E. de Heer, S.G. van Duinen, R.Q. Hintzen, U.A. Badrising, A.R. Wintzen

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 125 KB

english, 1997

167

Clinical and genetic aspects of autosomal recessive CMT

Kamel Ben Othmane, Julie M. Rochelle, Ellen Johnson, Mongi Ben Hamida, Margaret A. Pericak-Vance, Faycal Hentati, Jeffery M. Vance

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 263 KB

english, 1997

168

Autosomal recessive forms of hereditary motor and sensory neuropathies (HMSN)

A.A.W.M. Gabreëls-Festen

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 140 KB

english, 1997

169

Genetics of dominant ataxias

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 140 KB

english, 1997

170

Friedreich ataxia: clinical and genetic aspects

Massimo Pandolfo

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

171

The frataxin story

Victoria Campuzano, Hana Koutnikova, Françoise Foury, Mireille Cossée, Ornella Cazzalini, Michel Koenig

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

172

Friedreich's ataxia phenotype with vitamin E deficiency (FAVED): an overview

Fayçal Hentati

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

173

Clinical, electrophysiological and neuropathological findings in an autosomal dominant CMTIC family

P. De Jonghe, E. Nelis, A. Lofgren, E. De Vriendt, V. Timmerman, C. Ceuterick, J.-J. Martin, C. Van Broeckhoven

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

174

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33

E. LeGuern, A. Guilbot, M. Kessali, N. Ravise, J. Tassin, T. Maisonobe, D. Grid, A. Brice

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 265 KB

english, 1997

175

Hereditary motor and sensory neuropathy-Lom (HMSNL) in an Italian gypsy family

Adriana Trogu, Mariangela Zanetti, Cristina Bergonzoni, Stefano Stilli, Marcello Villanova, Patrizia Sabatelli, Peter Yanakiev, Luba Kalaydjieva, Luciano Merlini

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

176

Giant axonal neuropathy: clinical study and genetic mapping

C. Ben Hamida, L. Cavalier, S. Belal, H. Sanhaji, N. Nadal, C. Barhoumi, N. Mrissa, N. Maarzouki, J.-L. Mandel, M. Ben Hamida, M. Koenig, F. Hentati

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

177

Cloning of the gene for autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) reveals a highly unstable CAG repeat expansion

Gilles David, Nacer Abbas, Giovanni Stevanin, Alexandra Durr, Gael Yvert, Geraldine Cancel, Chantal Weber, Georges Imbert, Frederic Saudou, Eric Antoniou, Harry Drabkin, Robert Gemmill, Paola Giunti,

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

178

Expression and mitochondrial localisation of frataxin, the Friedreich's ataxia gene product

P. Cavadini, C. DiBlasi, S. Baratta, S. DiDonato, M. Mora, F. Taroni

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 262 KB

english, 1997

179

Complicated form of autosomal recessive hereditary spastic paraplegia is also linked to chromosome 8p: further evidence of genetic heterogeneity

H. Erdem, H. Topaloglu, A.N. Akarsu, M. Topçu, K. Gücüyener, M. Özgüç

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

180

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Jean-Pierre Bouchard, Jean Mathieu, Andrea Richter, Thomas J. Hudson, Ken Morgan, Serge B. Melançon

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

181

Clinical and genetical aspects of autosomal dominant cerebellar ataxia in Morocco (about 16 families)

A. Benomar, M. Yahyaoui, P. Meggouh, N. Bouslam, A. Bouhouche, T Chkili

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

182

Neuropathology of infantile onset spinocerebellar ataxia

T. Lönnqvist, H. Pihko, A. Paetau

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 260 KB

english, 1997

183

Phenotype-genotype correlations in SCA1, SCA2, SCA3/MJD and SCA6

Alexandra Durr, Giovanni Stevanin, Geraldine Cancel, Olivier Didierjean, Alexis Brice

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

184

Spinocerebellar ataxias: analysis of CAG expansions at SCA1, SCA 2, SCA 3, and SCA 6 loci in Italian families

A. Nardacchione, E. Dragone, L. Orsi, P Mortara, A. Franco, E. Pavanelli, E. Grosso, G. Matullo, A. Carbonara, G. Restagno

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

185

Anatomical localisation of frataxin mRNA and protein: in situ hybridization and immunocytochemical analysis

A. Princivalle, P. Cavadini, A. Giavazzi, F. Taroni, G. Battaglia

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

186

Ataxia with vitamin E deficiency and Friedreich ataxia: comparative analysis of vitamin A, vitamin E and some lipid parameters in patients and not-affected family members

M. Feki, S. Belal, D. Khiari, M. Zouari, N. Kaabachi, C. Ben Hamida, M. Ben Hamida, A. Mebazaa, F. Hentati

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 262 KB

english, 1997

187

The axonal form of autosomal recessive Charcot-Marie-Tooth (CMT) disease: a phenotype study of 4 Moroccan families

N. Birouk, H. Belaidi, A. Benomar, A. Bouhouche, B. Kably, R. Ouazzani, M. Yahyaoui, E. Le Guern, T. Chkili

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

188

Linkage to the myelin protein zero locus in a family with intermediate HMSN

R. Stell, F.L. Mastaglia, B. Phillips, V. Fabian, J.E. Edmondston, J. Hallmayer, N.G. Laing

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

189

Familial amyloidotic polyneuropathy: evidence of a novel upstream promoter driving the gene expression in liver and cerebellum from patients and controls

Alessandra Ferlini, Laura Obici

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

190

Expression of peripheral myelin protein-22 (PMP22)-mRNA in hereditary motor and sensory neuropathy type 1 (HMSN 1)

H. Grehl, T. Liehr, B. Neundörfer, B. Rautenstrauβ

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 258 KB

english, 1997

191

Co-segregation of mild dysmorphic features and hereditary neuralgic amyotrophy (HNA) in two 17q24-q25 HNA families?

M. Wehnert, M. Hoeltzenbein, J. Meuleman, G. Kuhlenbaumer, V. Timmerman, C. Van Broeckhoven

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

192

Analysis of the crossover breakpoints in 24 CMTIA and 3 HNPP de novo patients

J. Lopes, N. Ravise, P. Latour, S. Tardieu, A. Vandenberghe, V. Ionasescu, A. Brice, E. Le Guern

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

193

Gln15 missense mutation in the connexin 32 gene in a CMTX Italian family

P. Gobbi, C. Bell, P. Sorgato, P. Conigli, A. Colombo, N. Haites, A. Ferlini

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

194

Recessive sensory and motor hereditary neuropathy associated with juvenile glaucoma

R. Gouider, T. Dogui, M. Fredj, E. Leguern, S. Ben Ammou, A. Mrabet

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 256 KB

english, 1997

195

A family presenting with electrophysiological ‘CMT type II’ and linked to Po gene

F. Chapon, B. Lechevalier, S. Schaeffer, M. Hamel, Ph. Diraison, Ph. Latour, A. Vandenberghe

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

196

The phenotypes of autosomal recessive HSMN linked to chromosomes 5q and 11q

M.A. Salih, M. Kessali, T. Hammadouche, M. Kabira, A. Tahan, M. Al Rayes, T. Maisonobe, E. Le Guern, J.A. Urtizberea, D. Grid

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

197

Charcot-Marie-Tooth disease type 1 and 2: muscle biopsy findings in distal and proximal muscles

UB. Ericson, T. Ansved, K. Borg

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

198

Linkage mapping of hereditary motor and sensory neuropathy with spastic paraplegia (HMSN V): preliminary results

M.L. Mostacciuolo, L. Rampoldi, F. Schiavon, E. Righetti, C. Angelini

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

199

Congenital insensitivity to pain with anhydrosis

Anne Vital, Daniel Fontan, Jean Julien, Claude Vital

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

200

The endoneurial inflammatory reaction in 31 patients with onion-bulb formations

C. Vital, A. Vital, Y. Rajabally, A. Lagueny, D. Fontan, P. Latour, M. Barat, P. Henry, A. Arnaud, A. Vandenberghe, J. Julien

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

201

Muscle CT scans in neuromuscular diseases: a follow-up study

Giampiero Marconi, Assunta Pizzi, Ibrahim Mahjneh

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

202

Congenital autosomal dominant distal spinal muscular atrophy

C. Adams, O. Suchowersky, B. Lowry

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 261 KB

english, 1997

203

Macro-EMG in carriers of Duchenne muscular dystrophy

E. Szmidt-Salkowska, K. Rowinska-Marcinska, I. Hausmanowa-Petrusewicz

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 126 KB

english, 1997

204

Study of muscle regeneration in muscular dystrophies

F. Mechler, J.M. Molnar

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 126 KB

english, 1997

205

Persistent motor neuron discharges of central origin aggravated by alcohol

M. Al-Jumah, G. Elleker, H. Brookes

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 126 KB

english, 1997

206

Congenital club foot with survival motor neuron gene deletion

B. Echenne, F. Rivier, A. Roubertie, V. Humbertclaude

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 126 KB

english, 1997

207

Dystrophinopathy in a boy with Chidiak-Higashi syndrome

Arpad von Moers, Frank Van Landeghem, Annemarie Kiehntopf, Eckart Baumgarten, Ronald D. Cohn, Joachim Bvrger, Gisela Stoltenburg-Didinger

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 255 KB

english, 1997

208

Expression of the myogenic regulatory factors and the sarcoplasmic/endoplasmic reticulum Ca2+ ATPases in regenerating fast and slow muscles of the rat

Erno Zador, Luca Mendler, Gerda Szakonyi, Gabor Racz, Aniko Gorbe, Frank Wuytack, Laszlo Dux

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

209

Electromyoneurographycal abnormalities and DNA analyses in Croatian children with proximal spinal muscular atrophies (SMA)

N. Barisic, C. Billi, J. Sertic, I. Baric, V. Samavka, I. Malcic, M. Cvitanovic, D. Begovic, L. Florentin

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

210

Mutations of the glutamate transporter gene EAAT2 do not cause the abnormal EAAT2 transcripts in patients with amyotrophic lateral sclerosis

Masashi Aoki, Jeffrey D. Rothstein, Chien-Liang G. Lin, Brian A. Geller, Betsy A. Hosler, Theodore L. Munsat, H. Robert Horvitz, Robert H. Brown Jr.

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

211

Author index

Journal:

Neuromuscular Disorders

Year:

1997

File:

PDF, 338 KB

1997

212

Involvement of human DNase II-like gene in the pathogenesis of an X-linked cardiomyopathy and autophagic vacuolar myophathy

I. Biunno, M. Marina, M. Mirabella, S. Servidci

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

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