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                             252 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Abnormal expression of β-dystroglycan in a patient with limb-girdle muscular dystrophy (LGMD) Auranen, Mari
 1997
 6-7 p. 439-
1 p.
 artikel
2 Abnormal expression of integrin a7b1D in merosin deficient congenital muscular dystrophies Hayashi, Yukiko K.
 1997
 6-7 p. 429-
1 p.
 artikel
3 Abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related Taylor, J.
 1997
 6-7 p. 437-
1 p.
 artikel
4 Abnormal muscle energy metabolism in chronic fatigue syndrome patients: evidence from muscle histometry, spectroscopy and in vitro mitochondrial function studies Lane, Russell J.M.
 1997
 6-7 p. 450-
1 p.
 artikel
5 Absence of characteristic histopathology in two patients with inclusion body myositis Hoogendijk, J.E.
 1997
 6-7 p. 454-
1 p.
 artikel
6 Abstract 1999
 6-7 p. 474-534
61 p.
 artikel
7 A family presenting with electrophysiological ‘CMT type II’ and linked to Po gene Chapon, F.
 1997
 6-7 p. 472-
1 p.
 artikel
8 A family with isolated vitamin E deficiency and Friedreich ataxia phenotype not linked to chromosome 8q Shorer, Zamir
 1997
 6-7 p. 457-
1 p.
 artikel
9 A family with severe pseudo-dominant Emery-Dreifuss muscular dystrophy due to emerin deficiency Récan, D.
 1997
 6-7 p. 445-
1 p.
 artikel
10 A longitudinal study of forced vital capacity in Duchenne muscular dystrophy Phillips, M.F.
 1997
 6-7 p. 435-
1 p.
 artikel
11 Alpha-sarcoglycan analysis of limb-girdle type muscular dystrophy Ikeya, Kiyoko
 1997
 6-7 p. 440-441
2 p.
 artikel
12 Altered distribution of plectin/HD1 in dystrophinopathies Schroder, Rolf
 1997
 6-7 p. 436-437
2 p.
 artikel
13 A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block Kitaguchi, Tetsuo
 2001
 6-7 p. 542-546
5 p.
 artikel
14 Analysis of the crossover breakpoints in 24 CMTIA and 3 HNPP de novo patients Lopes, J.
 1997
 6-7 p. 471-
1 p.
 artikel
15 Anatomical localisation of frataxin mRNA and protein: in situ hybridization and immunocytochemical analysis Princivalle, A.
 1997
 6-7 p. 469-
1 p.
 artikel
16 Andersen's syndrome with absent tubular aggregates in muscle biopsy Al-Jumah, M.
 1997
 6-7 p. 448-
1 p.
 artikel
17 An early-onset autosomal recessive muscular dystrophy with distal wasting and rigidity of the spine Muntoni, F.
 1997
 6-7 p. 445-
1 p.
 artikel
18 A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy Bruno, C
 1999
 6-7 p. 403-407
5 p.
 artikel
19 A novel type of autosomal dominant myopathy with rimmed vacuoles Borg, K.
 1997
 6-7 p. 463-
1 p.
 artikel
20 Antimyosin scintigraphy compared with MRI in inflammatory myopathies Löfberg, Mervi
 1997
 6-7 p. 453-
1 p.
 artikel
21 A patient with myopathic arthrogryposis multiplex congenita who died of hemorrhagic pulmonary infarction Ishihara, T.
 1997
 6-7 p. 431-
1 p.
 artikel
22 Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of ‘double trouble’ Rubio, Juan C.
 1997
 6-7 p. 387-389
3 p.
 artikel
23 A survey of neuromuscular disorders in children in western Sweden Tulinius, Már
 1997
 6-7 p. 446-
1 p.
 artikel
24 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 Feki, M.
 1997
 6-7 p. 469-470
2 p.
 artikel
25 Author index 2001
 6-7 p. 675-679
5 p.
 artikel
26 Author index 1997
 6-7 p. 476-480
5 p.
 artikel
27 Autosomal dominant late adult onset distal myopathy Penisson-Besnier, I.
 1997
 6-7 p. 461-
1 p.
 artikel
28 Autosomal dominant type of congenital muscular dystrophy Gabreëls, F.J.M.
 1997
 6-7 p. 432-
1 p.
 artikel
29 Autosomal recessive forms of hereditary motor and sensory neuropathies (HMSN) Gabreëls-Festen, A.A.W.M.
 1997
 6-7 p. 465-
1 p.
 artikel
30 Autosomal recessive oculopharyngodistal myopathy in a Japanese family: investigations in light of distal myopathy with rimmed vacuoles and OPMD Uyama, E.
 1997
 6-7 p. 463-
1 p.
 artikel
31 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) Bouchard, Jean-Pierre
 1997
 6-7 p. 468-
1 p.
 artikel
32 Becker muscular dystrophy with predominantly distal myopathy Phillips, M.F.
 1997
 6-7 p. 435-
1 p.
 artikel
33 Bethlem myopathy, a type VI collagen disorder de Visser, M.
 1997
 6-7 p. 459-
1 p.
 artikel
34 Bilateral foot drop as the first symptom of nemaline myopathy Hoeksema, D.G.
 1997
 6-7 p. 431-
1 p.
 artikel
35 Brain involvement in a series of cases with merosin-positive congenital muscular dystrophy Trevisan, C.P.
 1997
 6-7 p. 433-
1 p.
 artikel
36 Calpain-3 deficiency: a mild muscular dystrophy in childhood: molecular and clinical findings Dinçer, P.
 1997
 6-7 p. 442-
1 p.
 artikel
37 Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy Chae, Jonghee
 2001
 6-7 p. 547-555
9 p.
 artikel
38 Cardiac involvement in Duchenne muscular dystrophy (DMD): usefulness of instrumental non-invasive surveillance Genuini, I.
 1997
 6-7 p. 437-
1 p.
 artikel
39 Case presentation of a boy with X-linked myotubular myopathy Lindal, S.
 1997
 6-7 p. 430-
1 p.
 artikel
40 Caveolin-3 in skeletal muscle fibres of Duchenne muscular dystrophy and mdx mouse Hagiwara, Y.
 1997
 6-7 p. 436-
1 p.
 artikel
41 Central core and nemaline rods in the same patient Diószeghy, P.
 1997
 6-7 p. 430-
1 p.
 artikel
42 Changes of laminin β2 chain expression in congenital muscular dystrophy Cohn, Ronald D.
 1997
 6-7 p. 373-378
6 p.
 artikel
43 Charcot-Marie-Tooth disease type 1 and 2: analysis of sensory dysfunction with quantitative determination of somatosensory thresholds Ericson, U.B.
 1997
 6-7 p. 455-
1 p.
 artikel
44 Charcot-Marie-Tooth disease type 1 and 2: muscle biopsy findings in distal and proximal muscles Ericson, UB.
 1997
 6-7 p. 472-
1 p.
 artikel
45 Clinical and genetical aspects of autosomal dominant cerebellar ataxia in Morocco (about 16 families) Benomar, A.
 1997
 6-7 p. 468-
1 p.
 artikel
46 Clinical and genetic analyses of Emery-Dreifuss muscular dystrophy and rigid spine syndrome Kubo, Shinichiro
 1997
 6-7 p. 444-
1 p.
 artikel
47 Clinical and genetic aspects of autosomal recessive CMT Othmane, Kamel Ben
 1997
 6-7 p. 464-465
2 p.
 artikel
48 Clinical and genetic study of a case with hereditary vitamin e deficiency Martinello, F.
 1997
 6-7 p. 457-
1 p.
 artikel
49 Clinical and morphological study of a family with a lipid storage myopathy Triki, C.
 1997
 6-7 p. 449-
1 p.
 artikel
50 Clinical and pathological study of 80 patients with muscular dystrophy in Algeria Terki, N.
 1997
 6-7 p. 441-442
2 p.
 artikel
51 Clinical, electrophysiological and histological analysis in 4 patients with hereditary sensory neuropathy and pyramidal syndrome Zouari, M.
 1997
 6-7 p. 455-456
2 p.
 artikel
52 Clinical, electrophysiological and neuropathological findings in an autosomal dominant CMTIC family De Jonghe, P.
 1997
 6-7 p. 466-
1 p.
 artikel
53 Clinical presentation in merosin-positive congenital muscular dystrophy Philpot, J.
 1997
 6-7 p. 434-
1 p.
 artikel
54 Cloning of the gene for autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) reveals a highly unstable CAG repeat expansion David, Gilles
 1997
 6-7 p. 467-
1 p.
 artikel
55 CMT with vocal cord paralysis, type 2C Iannaccone, Susan T.
 1997
 6-7 p. 454-455
2 p.
 artikel
56 Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status Mercuri, Eugenio
 1999
 6-7 p. 383-387
5 p.
 artikel
57 Cognitive and psychological profile of a Tunisian population of severe childhood autosomal recessive muscular dystrophy (SCARMD) Miladi, N.
 1997
 6-7 p. 438-439
2 p.
 artikel
58 Comparison of three functional assessment scales in neuromuscular diseases Karaduman, Ayse
 1997
 6-7 p. 445-446
2 p.
 artikel
59 Complicated form of autosomal recessive hereditary spastic paraplegia is also linked to chromosome 8p: further evidence of genetic heterogeneity Erdem, H.
 1997
 6-7 p. 468-
1 p.
 artikel
60 Conference 1999
 6-7 p. 446-454
9 p.
 artikel
61 Congenital autosomal dominant distal spinal muscular atrophy Adams, C.
 1997
 6-7 p. 473-474
2 p.
 artikel
62 Congenital club foot with survival motor neuron gene deletion Echenne, B.
 1997
 6-7 p. 474-
1 p.
 artikel
63 Congenital cytoplasmic body myopathy with survival motor neuron (SMN) gene deletion or Werdnig-Hoffman disease? Vajsar, J.
 1997
 6-7 p. 430-
1 p.
 artikel
64 Congenital insensitivity to pain with anhydrosis Vital, Anne
 1997
 6-7 p. 473-
1 p.
 artikel
65 Congenital muscular dystrophy and cerebellar hypoplasia. An original cerebro-muscular syndrome Echenne, B.
 1997
 6-7 p. 432-
1 p.
 artikel
66 Congenital myasthenic syndromes Gouider-Khouja, N.
 1997
 6-7 p. 452-
1 p.
 artikel
67 Congenital myopathies: basic concepts and classification Fardeau, Michel
 1997
 6-7 p. 426-
1 p.
 artikel
68 Congenital myopathies: clinical aspects and management Duhowitz, Victor
 1997
 6-7 p. 426-
1 p.
 artikel
69 Congenital myopathies with inclusion bodies Goebel, Hans H.
 1997
 6-7 p. 427-
1 p.
 artikel
70 Congenital myopathy with central cores and fingerprint bodies in association with malignant hyperthermia susceptibility Stojkovic, T
 2001
 6-7 p. 538-541
4 p.
 artikel
71 Co-segregation of mild dysmorphic features and hereditary neuralgic amyotrophy (HNA) in two 17q24-q25 HNA families? Wehnert, M.
 1997
 6-7 p. 471-
1 p.
 artikel
72 Critical illness myopathy: a clinical, electrophysiological and pathological study of ten cases Navarro, C.
 1997
 6-7 p. 447-
1 p.
 artikel
73 Critical illness myopathy unrelated to corticosteroids or neuromuscular blocking agents: myopathy-myosin-critical illness Deconinck, N.
 1997
 6-7 p. 446-447
2 p.
 artikel
74 Cytochrome c oxidase deficiency linked to a new stop codon point mutation in mitochondrial DNA Hanna, M.G.
 1997
 6-7 p. 450-
1 p.
 artikel
75 Decreased cerebrovascular reserve capacity in patients with various types of mitochondrial disorders Molnar, M.
 1997
 6-7 p. 450-451
2 p.
 artikel
76 Dermatomyositis and Whipple's disease Helliwell, T.R.
 1997
 6-7 p. 453-
1 p.
 artikel
77 Determining physical fitness levels of children with neuromuscular dyseases Karaduman, Ayse
 1997
 6-7 p. 447-448
2 p.
 artikel
78 Differential diagnosis of ataxic syndromes in childhood: a five years experience of the Child Neurology and Psychiatry Service in Reggio Emilia Pini, A.
 1997
 6-7 p. 456-
1 p.
 artikel
79 Discordant clinical outcome in patients with limb girdle muscular dystrophy 2C showing the same deletion pattern Politano, L.
 1997
 6-7 p. 440-
1 p.
 artikel
80 Distal myopathy and limb-girdle muscular dystrophy in the same family: one gene for different phenotypes? Angelini, Corrado
 1997
 6-7 p. 462-
1 p.
 artikel
81 Distal myopathy of Miyoshi and Nonaka types: a clinical, pathological and quantitative EMG study of 7 cases Fernandez, J.M.
 1997
 6-7 p. 462-463
2 p.
 artikel
82 Distal myopathy of Miyoshi type: report of 21 French cases Eymard, B.
 1997
 6-7 p. 461-
1 p.
 artikel
83 Distal myopathy with rimmed vacuole formation (DMRV) Nonaka, Ikuya
 1997
 6-7 p. 458-459
2 p.
 artikel
84 Distribution of ten laminin chains in dystrophic and regenerating muscles Patton, Bruce L.
 1999
 6-7 p. 423-433
11 p.
 artikel
85 Distrubances of neuromuscular interaction may contribute to muscle weakness in spinal muscular atrophy Greensmith, Linda
 1997
 6-7 p. 369-372
4 p.
 artikel
86 Do immune cells promote the pathology of dystrophin-deficient myopathies? Spencer, Melissa J
 2001
 6-7 p. 556-564
9 p.
 artikel
87 Duplication of dystrophin exon 18 in a DMD patient with mental retardation Bettecken, Thomas
 1997
 6-7 p. 435-436
2 p.
 artikel
88 Dystrophic central core disease or muscular dystrophy with central cores? A possible new autosomal recessive disorder with central core disease Manzur, A.
 1997
 6-7 p. 428-
1 p.
 artikel
89 Dystrophin associated glycoprotein complex in a particular case of Becker muscular dystrophy Rivier, F.
 1997
 6-7 p. 435-
1 p.
 artikel
90 Dystrophinopathy in a boy with Chidiak-Higashi syndrome von Moers, Arpad
 1997
 6-7 p. 474-475
2 p.
 artikel
91 Dystrophinopathy or sarcoglycanopathy: the importance of a full diagnostic assessment in suspected manifesting carriers of Duchenne and Becker muscular dystrophy Bushby, K.
 1997
 6-7 p. 438-
1 p.
 artikel
92 Early onset autosomal dominant myopathy with external ophthalmoplegia and rimmed vacuoles in muscle fibers Darin, N.
 1997
 6-7 p. 460-
1 p.
 artikel
93 Early onset X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy Sewry, C.A.
 1997
 6-7 p. 444-445
2 p.
 artikel
94 Effect of vitamin B6 in McArdle's disease: a strategic case study Phoenix, Joanne
 1997
 6-7 p. 448-
1 p.
 artikel
95 Effects of chronic administration of minoxidil and acetazolamide on an animal model of hypokalemic periodic paralysis (HOPP) Tricarico, D.
 1997
 6-7 p. 449-
1 p.
 artikel
96 Electromyoneurographycal abnormalities and DNA analyses in Croatian children with proximal spinal muscular atrophies (SMA) Barisic, N.
 1997
 6-7 p. 475-
1 p.
 artikel
97 Electron transport chain activities in dermatomyositis Casademont, J.
 1997
 6-7 p. 452-453
2 p.
 artikel
98 Epidemiology of inclusion body myositis in the Netherlands Badrising, U.A.
 1997
 6-7 p. 463-464
2 p.
 artikel
99 Etiopathogenic factors of bladder dysfunctions in the neuromuscular diseases Viet, G.L.
 1997
 6-7 p. 447-
1 p.
 artikel
100 Exon 25 frameshift deletion associated with intermediate Duchenne/Becker phenotype Phillips, M.F.
 1997
 6-7 p. 435-
1 p.
 artikel
101 Expression and mitochondrial localisation of frataxin, the Friedreich's ataxia gene product Cavadini, P.
 1997
 6-7 p. 467-468
2 p.
 artikel
102 Expression of peripheral myelin protein-22 (PMP22)-mRNA in hereditary motor and sensory neuropathy type 1 (HMSN 1) Grehl, H.
 1997
 6-7 p. 470-471
2 p.
 artikel
103 Expression of the myogenic regulatory factors and the sarcoplasmic/endoplasmic reticulum Ca2+ ATPases in regenerating fast and slow muscles of the rat Zador, Erno
 1997
 6-7 p. 475-
1 p.
 artikel
104 Familial amyloidotic polyneuropathy: evidence of a novel upstream promoter driving the gene expression in liver and cerebellum from patients and controls Ferlini, Alessandra
 1997
 6-7 p. 470-
1 p.
 artikel
105 Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration Kuntzer, Thierry
 1997
 6-7 p. 462-
1 p.
 artikel
106 Feeding problems in merosin-deficient congenital muscular dystrophy Philpot, J.
 1997
 6-7 p. 433-
1 p.
 artikel
107 Friedreich ataxia: clinical and genetic aspects Pandolfo, Massimo
 1997
 6-7 p. 465-
1 p.
 artikel
108 Friedreich's ataxia phenotype with vitamin E deficiency (FAVED): an overview Hentati, Fayçal
 1997
 6-7 p. 466-
1 p.
 artikel
109 Fukuyama-type congenital muscular dystrophy: close relation between changes in the muscle basal lamina and plasma membrane Matsubara, Shiro
 1999
 6-7 p. 388-398
11 p.
 artikel
110 Gamma-sarcoglycan deficiency; specific mutation for the gypsy patients Colomer, J.
 1997
 6-7 p. 440-
1 p.
 artikel
111 Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1 Takashima, Hiroshi
 1999
 6-7 p. 368-371
4 p.
 artikel
112 Genetic and allelic heterogeneity of LGMD in North Africa Azibi, K.
 1997
 6-7 p. 441-
1 p.
 artikel
113 Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy Flanigan, Kevin M
 2001
 6-7 p. 525-529
5 p.
 artikel
114 Genetic counseling and molecular analysis of muscular dystrophy families in Israel Legum, Cyril
 1997
 6-7 p. 434-
1 p.
 artikel
115 Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome Moghadaszadeh, Behzad
 1999
 6-7 p. 376-382
7 p.
 artikel
116 Genetics of central core disease and its relationship to malignant hyperthermia Mueller, Clemens R.
 1997
 6-7 p. 427-
1 p.
 artikel
117 Genetics of dominant ataxias Brice, Alexis
 1997
 6-7 p. 465-
1 p.
 artikel
118 Giant axonal neuropathy: clinical study and genetic mapping Hamida, C. Ben
 1997
 6-7 p. 467-
1 p.
 artikel
119 Gln15 missense mutation in the connexin 32 gene in a CMTX Italian family Gobbi, P.
 1997
 6-7 p. 471-
1 p.
 artikel
120 Hereditary motor and sensory neuropathy-Lom (HMSNL) in an Italian gypsy family Trogu, Adriana
 1997
 6-7 p. 467-
1 p.
 artikel
121 Hereditary myopathy with rimmed vacuoles: report of two unusual pedigrees Schaeffer, S.
 1997
 6-7 p. 464-
1 p.
 artikel
122 Hereditary sensory neuropathy associated with muscular atrophy affecting 7 members of one kindred Zouari, M.
 1997
 6-7 p. 456-
1 p.
 artikel
123 Heterogeneous clinical spectrum of alpha-sarcoglycanopathies (adhalinopathy) in Saudi Arabian patients Bohlega, S.
 1997
 6-7 p. 441-
1 p.
 artikel
124 High frequency of epilepsy and mental retardation in early onset 4q35-facioscapulohumeral muscular dystrophy with huge deletion of KpnI repeats Funakoshi, Masanori
 1997
 6-7 p. 443-
1 p.
 artikel
125 Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with severe nemaline myopathy Tan, P.
 1997
 6-7 p. 427-428
2 p.
 artikel
126 Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33 LeGuern, E.
 1997
 6-7 p. 466-467
2 p.
 artikel
127 Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families Sambuughin, Nyamkhishig
 2001
 6-7 p. 530-537
8 p.
 artikel
128 Immunocytochemical detection of emerin within the nuclear matrix Squarzoni, S.
 1997
 6-7 p. 444-
1 p.
 artikel
129 Immunocytochemical studies in congenital myopathies Sewry, C.A.
 1997
 6-7 p. 426-427
2 p.
 artikel
130 Immunofluorescence and Western blot analysis on human skeletal muscle using antibodies directed against different regions of the muscle-specific calpain Romero, Norma Beatriz
 1997
 6-7 p. 442-
1 p.
 artikel
131 Immunohistochemistry and ultrastructure of rimmed vacuolar fibers in tibial muscular dystrophy Udd, Bjarne
 1997
 6-7 p. 459-
1 p.
 artikel
132 Immunomarkers for molecular mass Anderson, Louise V.B
 1999
 6-7 p. 421-422
2 p.
 artikel
133 Incidence of CMTIA in a pediatric neuromuscular clinic Escobar, Raul G.
 1997
 6-7 p. 454-
1 p.
 artikel
134 Index 1999
 6-7 p. 535-540
6 p.
 artikel
135 Inspiratory muscle training in patients with Duchenne muscular dystrophy Wild, M.
 1997
 6-7 p. 437-438
2 p.
 artikel
136 Instructions to authors 2001
 6-7 p. 696-697
2 p.
 artikel
137 Intermuscular variation in X-linked myotubular myopathy Helliwell, T.R.
 1997
 6-7 p. 428-
1 p.
 artikel
138 Involvement of human DNase II-like gene in the pathogenesis of an X-linked cardiomyopathy and autophagic vacuolar myophathy Biunno, I.
 1997
 6-7 p. 447-
1 p.
 artikel
139 Ion channels in muscle and cardiac hereditary diseases: from gene dysfunction to pharmacological therapy Desaphy, Jean-François
 2001
 6-7 p. 583-588
6 p.
 artikel
140 Is the del521T mutation in the gamma-sarcoglycan gene a founder mutation in Mediterranean countries? Leturcq, F.
 1997
 6-7 p. 441-
1 p.
 artikel
141 Known and novel sarcoglycan gene mutations in Portuguese patients dos Santos, M.R.
 1997
 6-7 p. 439-
1 p.
 artikel
142 Learning difficulties in Duchenne muscular dystrophy: characterisation and correlation with genetic mutation Male, A.M.
 1997
 6-7 p. 437-
1 p.
 artikel
143 LGMD 2E in Tunisia is caused by a missense mutation Arg91Leu in β-sarcoglycan Bönnemann, C.
 1997
 6-7 p. 460-
1 p.
 artikel
144 Limb girdle muscular dystrophy with calpain deficiency in Guipuzcoa (Basque country, Spain) Urtizberea, J.A.
 1997
 6-7 p. 442-
1 p.
 artikel
145 Linkage in tibial muscular dystrophy (TMD) on chromosome 2q31–33 Haravuori, Henna
 1997
 6-7 p. 459-
1 p.
 artikel
146 Linkage mapping of hereditary motor and sensory neuropathy with spastic paraplegia (HMSN V): preliminary results Mostacciuolo, M.L.
 1997
 6-7 p. 472-
1 p.
 artikel
147 Linkage to the myelin protein zero locus in a family with intermediate HMSN Stell, R.
 1997
 6-7 p. 470-
1 p.
 artikel
148 Long-term prognosis in congenital muscular dystrophy without mental retardation Pihko, Helena
 1997
 6-7 p. 432-433
2 p.
 artikel
149 Macro-EMG in carriers of Duchenne muscular dystrophy Szmidt-Salkowska, E.
 1997
 6-7 p. 474-
1 p.
 artikel
150 Malignant hyperthermia in a patient with King Denborough syndrome lack of correlation with the RYR gene mutation Echenne, B.
 1997
 6-7 p. 430-
1 p.
 artikel
151 Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene Hadjigeorgiou, Georgios M
 1999
 6-7 p. 399-402
4 p.
 artikel
152 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 Felicetti, Luciano
 1997
 6-7 p. 460-461
2 p.
 artikel
153 Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI Topaloglu, H.
 1997
 6-7 p. 429-
1 p.
 artikel
154 Merosin positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families Topaloglu, H.
 1997
 6-7 p. 433-
1 p.
 artikel
155 Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular–eye–brain loci: report of three siblings Ruggieri, V
 2001
 6-7 p. 570-578
9 p.
 artikel
156 Minicore myopathy: cave noctem! Goemans, N.
 1997
 6-7 p. 428-
1 p.
 artikel
157 Mitochondrial dysfunction with MERRF point-mutation in nerve and mucle tissue of a patient with multiple symmetric lipomatosis Reichmann, H.
 1997
 6-7 p. 450-
1 p.
 artikel
158 Mitochondrial encephalomyopathies: gene mutation 2001
 6-7 p. 690-695
6 p.
 artikel
159 Mitochondrial myopathy with demyelination polyneuropathy Gouider-Khouja, N.
 1997
 6-7 p. 451-
1 p.
 artikel
160 Miyoshi myopathy in Saudi Arabia Cupler, Edward J.
 1997
 6-7 p. 461-462
2 p.
 artikel
161 Miyoshi-type distal muscular dystrophy: clinical features of 24 Dutch patients Linssen, W.H.J.P.
 1997
 6-7 p. 462-
1 p.
 artikel
162 Molecular evidence of clinical heterogeneity in Fukuyama type congenital muscular dystrophy Saito, Kayoko
 1997
 6-7 p. 429-
1 p.
 artikel
163 Molecular genetic analysis helps in diagnostics of autosomal dominant cerebellar ataxias Ovtchinnikova, O.
 1997
 6-7 p. 457-
1 p.
 artikel
164 MRI to evaluate muscle involvement in patients with autosomal dominant facioscapulolimb muscular dystrophy, type 2 (FSLD2) (or facioscapuloperoneal) Rudenko, D.
 1997
 6-7 p. 443-
1 p.
 artikel
165 MTMI gene mutations in Japanese patients with X-linked myotubular myopathy Nishino, Ichizo
 1997
 6-7 p. 428-429
2 p.
 artikel
166 Multi minicore disease myopathy: 20 cases Estournet, B.
 1997
 6-7 p. 431-
1 p.
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167 Multiple transcripts in the exons 47–53 region of the dystrophin gene: does this influence dystrophin expression in normal and dystrophic tissues? Ferlini, Alessandra
 1997
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168 Muscle CT scans in neuromuscular diseases: a follow-up study Marconi, Giampiero
 1997
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169 Mutations in the LAMA2 gene in patients with muscular dystrophy due to partial merosin deficiency Naom, I.
 1997
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170 Mutations of the glutamate transporter gene EAAT2 do not cause the abnormal EAAT2 transcripts in patients with amyotrophic lateral sclerosis Aoki, Masashi
 1997
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171 Myasthenia in children: 38 cases Estournet-Mathiaud, B.
 1997
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172 Myopathy/rhabdomyolysis in patients after heart transplantation by presurgical treatment with lipid-lowering drugs? Interaction of cyclosporine and HMG-CoA reductase inhibitor therapy? Ketelsen, U.P.
 1997
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173 Myotubular myopathy in a female Helliwell, T.R.
 1997
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174 42nd ENMC Sponsored International Workshop: X-linked cardiomyopathies 21–23 June 1996, Naarden, The Netherlands Nigro, Giovanni
 1997
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7 p.
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175 Nemaline myopathy and the myotubular myopathies Wallgren-Pettersson, Carina
 1997
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176 Neuromuscular Disorders 2001
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177 Neuromuscular disorders: gene location 2001
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178 Neuropathology of infantile onset spinocerebellar ataxia Lönnqvist, T.
 1997
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179 New species of muspiceoid nematode causes polymyositis Dennett, Xenia
 1997
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180 Nitric oxide: biologic effects on muscle and role in muscle diseases Kaminski, Henry J
 2001
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8 p.
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181 No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy Morrison, Karen E
 1999
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182 Normal visual function in children with pure congenital muscular dystrophy Mercuri, E.
 1997
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183 [No title] Emery, Alan
 1997
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184 [No title] Emery, Alan E.H.
 1997
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185 [No title] Fawcett, Peter R.W.
 1997
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186 Oral muscle functions in patients with myasthenia gravis Weijnen, F.G.
 1997
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187 Overview of distal myopathies: from the clinical to the molecular Griggs, Robert C.
 1997
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188 Oxidative stress as a potential pathogenic mechanism in an animal model of Duchenne muscular dystrophy Ragusa, Robert J.
 1997
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189 Penetrance of the FSHD mutation differs according to the D4Z4 repeat number de Toma, C.
 1997
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190 Peripheral myelin modification in CMT1B correlates with MPZ gene mutations Lagueny, A
 1999
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7 p.
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191 Peripheral neuropathy associated with mitochondrial myopathy Chu, Chun-Che
 1997
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192 Persistent motor neuron discharges of central origin aggravated by alcohol Al-Jumah, M.
 1997
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193 Phenotype-genotype correlations in SCA1, SCA2, SCA3/MJD and SCA6 Durr, Alexandra
 1997
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194 Physical mapping of the Miyoshi myopathy/LGMD2B locus on chromosome 2p13 Liu, J.
 1997
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195 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 Vondran, S.
 1997
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196 31P-NMR spectroscopy in muscle phosphofructokinase deficiency Grehl, T.
 1997
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197 Polyneuropathy in 8 glue-sniffers Turki, I.
 1997
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198 Prevalence of Becker muscular dystrophy in south west of France Ferrer, X.
 1997
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199 Primary AMP deaminase deficiency in childhood Bruno, C.
 1997
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200 Programme (Summary) 2001
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201 Program of the 6th WMS Congress 2001
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12 p.
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202 Progression of muscle involvement in Miyoshi myopathy by CT and MRI muscle imaging Meola, G.
 1997
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203 Progressive swelling and stiffness of the extremities: another case of eosinophilic fasciitis Broere, D.
 1997
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204 Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy Rowin, Julie
 1999
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4 p.
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205 Protection of extraocular muscle in murine merosin-deficient congenital muscular dystrophy correlates with normal cation homeostasis Porter, J.D.
 1997
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206 Proximal conduction block studies and response to intravenous immunoglobulin therapy in multifocal motor neuropathy Jaspert, A.
 1997
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207 Quadruple A syndrome in two adolescents Iannaccone, Susan T.
 1997
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208 Recessive sensory and motor hereditary neuropathy associated with juvenile glaucoma Gouider, R.
 1997
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209 Refinement of the linkage region of the distal myopathy MPD1 and exclusion of candidate genes Binz, N.
 1997
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210 Repeat expansion and phenotypic variability of Friedreich's ataxia in families of different ethnic origin from European-Asian region Ovchinnikov, I.
 1997
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211 Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22–24 September 2000, Naarden, The Netherlands Wallgren-Pettersson, Carina
 2001
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212 Respiratory chain defects in hereditary spastic paraplegias Piemonte, F.
 2001
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5 p.
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213 Respiratory muscle involvement in dermatomyositis Lahrmann, H
 1997
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214 Restrictive cardiomyopathy and congenital myopathy: a new disease due to a defective transition from neonatal to adult myosin? Toscano, Antonio
 1997
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215 Reversible severe myopathy of respiratory muscles due to adult-onset type III glycogenosis Kiechl, S
 1999
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216 rp-HPLC fractionation of muscle proteins as an initial step for the identification of autoantigens in inclusion body myositis (IBM) Verschuuren, J.J.
 1997
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217 Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy Ginjaar, H.B.
 1997
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218 Skewed X inactivation in manifesting carries of Duchenne muscular dystrophy Yoshioka, Mieko
 1997
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219 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) Kazakov, V.
 1997
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220 Spinocerebellar ataxias: analysis of CAG expansions at SCA1, SCA 2, SCA 3, and SCA 6 loci in Italian families Nardacchione, A.
 1997
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221 Standardized evaluation of respiratory muscle endurance in children with progressive muscular dystrophy Matecki, S.
 1997
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222 61st ENMC-Sponsored International Workshop: Smith, R
 1999
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223 Study of muscle regeneration in muscular dystrophies Mechler, F.
 1997
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224 Table of location of abstract topics 2001
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225 Tables Smith, John
 2001
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60 p.
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226 The axonal form of autosomal recessive Charcot-Marie-Tooth (CMT) disease: a phenotype study of 4 Moroccan families Birouk, N.
 1997
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227 The clinical and histopathological spectrum of limb girdle syndrome in Egypt Etribi, M.A.
 1997
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228 The endoneurial inflammatory reaction in 31 patients with onion-bulb formations Vital, C.
 1997
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229 The frataxin story Campuzano, Victoria
 1997
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230 The impact of the molecular data on clinical practice in facio-scapulohumeral muscular dystrophy (FSHD) Ricci, Enzo
 1997
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231 48th ENMC International Workshop: Drug Trials and Clinical Research in ALS 12–14 January 1997, Naarden, The Netherlands Vianney de Jong, J.M.B.
 1997
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232 49th ENMC-Sponsored International Workshop: Fibrodysplasia (Myositis) Ossificans Progressiva (FOP) 14–16 February 1997, Naarden, The Netherlands Smith, R.
 1997
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4 p.
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233 The onset and distribution of muscle weakness in inclusion body myositis (IBM) Badrising, U.A.
 1997
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234 The phenotypes of autosomal recessive HSMN linked to chromosomes 5q and 11q Salih, M.A.
 1997
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235 Therapeutic effects of tocainide and mexiletine analogs on myotonic MTO and ADR mice De Luca, A.
 1997
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236 The relationship of plasma catecholamine and lactate during anaerobic threshold exercise in mitochondrial myopathies Siciliano, Gabriele
 1999
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237 The three faces of lysosomal glycogen storage Mellor, D.H.
 1997
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238 Threshold expression of the tRNAlys A8344G mutation in single muscle fibres Moslemi, A.-R.
 1997
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239 66th/67th ENMC Sponsored International Workshop: The Limb-Girdle Muscular Dystrophies 26–28 March 1999, Naarden, The Netherlands Beckmann, J.S
 1999
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10 p.
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240 Thymoma associated with myasthenia gravis in a 12 year old girl Goemans, N.
 1997
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241 Thymomagenic myasthenia and demyelinization - immunodepended continuum Shakarishvili, Roman R.
 1997
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242 Tibial muscular dystrophy Somer, H.
 1997
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243 Toxoplasmic polymyositis revisited: case report and review of literature Cuturic, Miroslav
 1997
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7 p.
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244 Two sisters with autosomal recessive limb-girdle muscular dystrophy with gamma-sarcoglycanopathy (LGMD2C) Broere, D.
 1997
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245 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 Hsu, John D.
 1997
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246 Vecuronium-associated axonal motor neuropathy: a variant of critical illness polyneuropathy? Geller, Thomas J
 2001
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247 Vitamin B6 supplementation in McArdle's disease: a randomised, double-blind crossover trial Phoenix, Joanne
 1997
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248 Welander distal myopathy: clinical, pathophysiological and molecular aspects Borg,
 1997
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249 Welander hereditary distal myopathy, a comparison to hereditary IBM (inclusion body myositis) and autosomal recessive distal myopathy with regard to molecular genetics Åhlberg, Gabrielle
 1997
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250 Welcome to Utah 2001
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251 X-linked Emery-Dreifuss muscular dystrophy: molecular diagnosis by protein analysis and use of the skin biopsy in female carriers Colomer, J.
 1997
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252 X-linked vacuolated myopathy: a new family Coquet, M.
 1997
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                             252 gevonden resultaten
 
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