| 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
|
7 |
6-7 |
p. 439-
1 p.
|
artikel
|
| 2 |
Abnormal expression of integrin a7b1D in merosin deficient congenital muscular dystrophies
|
Hayashi, Yukiko K.
|
|
1997
|
7 |
6-7 |
p. 429-
1 p.
|
artikel
|
| 3 |
Abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related
|
Taylor, J.
|
|
1997
|
7 |
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
|
7 |
6-7 |
p. 450-
1 p.
|
artikel
|
| 5 |
Absence of characteristic histopathology in two patients with inclusion body myositis
|
Hoogendijk, J.E.
|
|
1997
|
7 |
6-7 |
p. 454-
1 p.
|
artikel
|
| 6 |
A family presenting with electrophysiological ‘CMT type II’ and linked to Po gene
|
Chapon, F.
|
|
1997
|
7 |
6-7 |
p. 472-
1 p.
|
artikel
|
| 7 |
A family with isolated vitamin E deficiency and Friedreich ataxia phenotype not linked to chromosome 8q
|
Shorer, Zamir
|
|
1997
|
7 |
6-7 |
p. 457-
1 p.
|
artikel
|
| 8 |
A family with severe pseudo-dominant Emery-Dreifuss muscular dystrophy due to emerin deficiency
|
Récan, D.
|
|
1997
|
7 |
6-7 |
p. 445-
1 p.
|
artikel
|
| 9 |
A longitudinal study of forced vital capacity in Duchenne muscular dystrophy
|
Phillips, M.F.
|
|
1997
|
7 |
6-7 |
p. 435-
1 p.
|
artikel
|
| 10 |
Alpha-sarcoglycan analysis of limb-girdle type muscular dystrophy
|
Ikeya, Kiyoko
|
|
1997
|
7 |
6-7 |
p. 440-441
2 p.
|
artikel
|
| 11 |
Altered distribution of plectin/HD1 in dystrophinopathies
|
Schroder, Rolf
|
|
1997
|
7 |
6-7 |
p. 436-437
2 p.
|
artikel
|
| 12 |
Analysis of the crossover breakpoints in 24 CMTIA and 3 HNPP de novo patients
|
Lopes, J.
|
|
1997
|
7 |
6-7 |
p. 471-
1 p.
|
artikel
|
| 13 |
Anatomical localisation of frataxin mRNA and protein: in situ hybridization and immunocytochemical analysis
|
Princivalle, A.
|
|
1997
|
7 |
6-7 |
p. 469-
1 p.
|
artikel
|
| 14 |
Andersen's syndrome with absent tubular aggregates in muscle biopsy
|
Al-Jumah, M.
|
|
1997
|
7 |
6-7 |
p. 448-
1 p.
|
artikel
|
| 15 |
An early-onset autosomal recessive muscular dystrophy with distal wasting and rigidity of the spine
|
Muntoni, F.
|
|
1997
|
7 |
6-7 |
p. 445-
1 p.
|
artikel
|
| 16 |
A novel type of autosomal dominant myopathy with rimmed vacuoles
|
Borg, K.
|
|
1997
|
7 |
6-7 |
p. 463-
1 p.
|
artikel
|
| 17 |
Antimyosin scintigraphy compared with MRI in inflammatory myopathies
|
Löfberg, Mervi
|
|
1997
|
7 |
6-7 |
p. 453-
1 p.
|
artikel
|
| 18 |
A patient with myopathic arthrogryposis multiplex congenita who died of hemorrhagic pulmonary infarction
|
Ishihara, T.
|
|
1997
|
7 |
6-7 |
p. 431-
1 p.
|
artikel
|
| 19 |
Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of ‘double trouble’
|
Rubio, Juan C.
|
|
1997
|
7 |
6-7 |
p. 387-389
3 p.
|
artikel
|
| 20 |
A survey of neuromuscular disorders in children in western Sweden
|
Tulinius, Már
|
|
1997
|
7 |
6-7 |
p. 446-
1 p.
|
artikel
|
| 21 |
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
|
7 |
6-7 |
p. 469-470
2 p.
|
artikel
|
| 22 |
Author index
|
|
|
1997
|
7 |
6-7 |
p. 476-480
5 p.
|
artikel
|
| 23 |
Autosomal dominant late adult onset distal myopathy
|
Penisson-Besnier, I.
|
|
1997
|
7 |
6-7 |
p. 461-
1 p.
|
artikel
|
| 24 |
Autosomal dominant type of congenital muscular dystrophy
|
Gabreëls, F.J.M.
|
|
1997
|
7 |
6-7 |
p. 432-
1 p.
|
artikel
|
| 25 |
Autosomal recessive forms of hereditary motor and sensory neuropathies (HMSN)
|
Gabreëls-Festen, A.A.W.M.
|
|
1997
|
7 |
6-7 |
p. 465-
1 p.
|
artikel
|
| 26 |
Autosomal recessive oculopharyngodistal myopathy in a Japanese family: investigations in light of distal myopathy with rimmed vacuoles and OPMD
|
Uyama, E.
|
|
1997
|
7 |
6-7 |
p. 463-
1 p.
|
artikel
|
| 27 |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
|
Bouchard, Jean-Pierre
|
|
1997
|
7 |
6-7 |
p. 468-
1 p.
|
artikel
|
| 28 |
Becker muscular dystrophy with predominantly distal myopathy
|
Phillips, M.F.
|
|
1997
|
7 |
6-7 |
p. 435-
1 p.
|
artikel
|
| 29 |
Bethlem myopathy, a type VI collagen disorder
|
de Visser, M.
|
|
1997
|
7 |
6-7 |
p. 459-
1 p.
|
artikel
|
| 30 |
Bilateral foot drop as the first symptom of nemaline myopathy
|
Hoeksema, D.G.
|
|
1997
|
7 |
6-7 |
p. 431-
1 p.
|
artikel
|
| 31 |
Brain involvement in a series of cases with merosin-positive congenital muscular dystrophy
|
Trevisan, C.P.
|
|
1997
|
7 |
6-7 |
p. 433-
1 p.
|
artikel
|
| 32 |
Calpain-3 deficiency: a mild muscular dystrophy in childhood: molecular and clinical findings
|
Dinçer, P.
|
|
1997
|
7 |
6-7 |
p. 442-
1 p.
|
artikel
|
| 33 |
Cardiac involvement in Duchenne muscular dystrophy (DMD): usefulness of instrumental non-invasive surveillance
|
Genuini, I.
|
|
1997
|
7 |
6-7 |
p. 437-
1 p.
|
artikel
|
| 34 |
Case presentation of a boy with X-linked myotubular myopathy
|
Lindal, S.
|
|
1997
|
7 |
6-7 |
p. 430-
1 p.
|
artikel
|
| 35 |
Caveolin-3 in skeletal muscle fibres of Duchenne muscular dystrophy and mdx mouse
|
Hagiwara, Y.
|
|
1997
|
7 |
6-7 |
p. 436-
1 p.
|
artikel
|
| 36 |
Central core and nemaline rods in the same patient
|
Diószeghy, P.
|
|
1997
|
7 |
6-7 |
p. 430-
1 p.
|
artikel
|
| 37 |
Changes of laminin β2 chain expression in congenital muscular dystrophy
|
Cohn, Ronald D.
|
|
1997
|
7 |
6-7 |
p. 373-378
6 p.
|
artikel
|
| 38 |
Charcot-Marie-Tooth disease type 1 and 2: analysis of sensory dysfunction with quantitative determination of somatosensory thresholds
|
Ericson, U.B.
|
|
1997
|
7 |
6-7 |
p. 455-
1 p.
|
artikel
|
| 39 |
Charcot-Marie-Tooth disease type 1 and 2: muscle biopsy findings in distal and proximal muscles
|
Ericson, UB.
|
|
1997
|
7 |
6-7 |
p. 472-
1 p.
|
artikel
|
| 40 |
Clinical and genetical aspects of autosomal dominant cerebellar ataxia in Morocco (about 16 families)
|
Benomar, A.
|
|
1997
|
7 |
6-7 |
p. 468-
1 p.
|
artikel
|
| 41 |
Clinical and genetic analyses of Emery-Dreifuss muscular dystrophy and rigid spine syndrome
|
Kubo, Shinichiro
|
|
1997
|
7 |
6-7 |
p. 444-
1 p.
|
artikel
|
| 42 |
Clinical and genetic aspects of autosomal recessive CMT
|
Othmane, Kamel Ben
|
|
1997
|
7 |
6-7 |
p. 464-465
2 p.
|
artikel
|
| 43 |
Clinical and genetic study of a case with hereditary vitamin e deficiency
|
Martinello, F.
|
|
1997
|
7 |
6-7 |
p. 457-
1 p.
|
artikel
|
| 44 |
Clinical and morphological study of a family with a lipid storage myopathy
|
Triki, C.
|
|
1997
|
7 |
6-7 |
p. 449-
1 p.
|
artikel
|
| 45 |
Clinical and pathological study of 80 patients with muscular dystrophy in Algeria
|
Terki, N.
|
|
1997
|
7 |
6-7 |
p. 441-442
2 p.
|
artikel
|
| 46 |
Clinical, electrophysiological and histological analysis in 4 patients with hereditary sensory neuropathy and pyramidal syndrome
|
Zouari, M.
|
|
1997
|
7 |
6-7 |
p. 455-456
2 p.
|
artikel
|
| 47 |
Clinical, electrophysiological and neuropathological findings in an autosomal dominant CMTIC family
|
De Jonghe, P.
|
|
1997
|
7 |
6-7 |
p. 466-
1 p.
|
artikel
|
| 48 |
Clinical presentation in merosin-positive congenital muscular dystrophy
|
Philpot, J.
|
|
1997
|
7 |
6-7 |
p. 434-
1 p.
|
artikel
|
| 49 |
Cloning of the gene for autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) reveals a highly unstable CAG repeat expansion
|
David, Gilles
|
|
1997
|
7 |
6-7 |
p. 467-
1 p.
|
artikel
|
| 50 |
CMT with vocal cord paralysis, type 2C
|
Iannaccone, Susan T.
|
|
1997
|
7 |
6-7 |
p. 454-455
2 p.
|
artikel
|
| 51 |
Cognitive and psychological profile of a Tunisian population of severe childhood autosomal recessive muscular dystrophy (SCARMD)
|
Miladi, N.
|
|
1997
|
7 |
6-7 |
p. 438-439
2 p.
|
artikel
|
| 52 |
Comparison of three functional assessment scales in neuromuscular diseases
|
Karaduman, Ayse
|
|
1997
|
7 |
6-7 |
p. 445-446
2 p.
|
artikel
|
| 53 |
Complicated form of autosomal recessive hereditary spastic paraplegia is also linked to chromosome 8p: further evidence of genetic heterogeneity
|
Erdem, H.
|
|
1997
|
7 |
6-7 |
p. 468-
1 p.
|
artikel
|
| 54 |
Congenital autosomal dominant distal spinal muscular atrophy
|
Adams, C.
|
|
1997
|
7 |
6-7 |
p. 473-474
2 p.
|
artikel
|
| 55 |
Congenital club foot with survival motor neuron gene deletion
|
Echenne, B.
|
|
1997
|
7 |
6-7 |
p. 474-
1 p.
|
artikel
|
| 56 |
Congenital cytoplasmic body myopathy with survival motor neuron (SMN) gene deletion or Werdnig-Hoffman disease?
|
Vajsar, J.
|
|
1997
|
7 |
6-7 |
p. 430-
1 p.
|
artikel
|
| 57 |
Congenital insensitivity to pain with anhydrosis
|
Vital, Anne
|
|
1997
|
7 |
6-7 |
p. 473-
1 p.
|
artikel
|
| 58 |
Congenital muscular dystrophy and cerebellar hypoplasia. An original cerebro-muscular syndrome
|
Echenne, B.
|
|
1997
|
7 |
6-7 |
p. 432-
1 p.
|
artikel
|
| 59 |
Congenital myasthenic syndromes
|
Gouider-Khouja, N.
|
|
1997
|
7 |
6-7 |
p. 452-
1 p.
|
artikel
|
| 60 |
Congenital myopathies: basic concepts and classification
|
Fardeau, Michel
|
|
1997
|
7 |
6-7 |
p. 426-
1 p.
|
artikel
|
| 61 |
Congenital myopathies: clinical aspects and management
|
Duhowitz, Victor
|
|
1997
|
7 |
6-7 |
p. 426-
1 p.
|
artikel
|
| 62 |
Congenital myopathies with inclusion bodies
|
Goebel, Hans H.
|
|
1997
|
7 |
6-7 |
p. 427-
1 p.
|
artikel
|
| 63 |
Co-segregation of mild dysmorphic features and hereditary neuralgic amyotrophy (HNA) in two 17q24-q25 HNA families?
|
Wehnert, M.
|
|
1997
|
7 |
6-7 |
p. 471-
1 p.
|
artikel
|
| 64 |
Critical illness myopathy: a clinical, electrophysiological and pathological study of ten cases
|
Navarro, C.
|
|
1997
|
7 |
6-7 |
p. 447-
1 p.
|
artikel
|
| 65 |
Critical illness myopathy unrelated to corticosteroids or neuromuscular blocking agents: myopathy-myosin-critical illness
|
Deconinck, N.
|
|
1997
|
7 |
6-7 |
p. 446-447
2 p.
|
artikel
|
| 66 |
Cytochrome c oxidase deficiency linked to a new stop codon point mutation in mitochondrial DNA
|
Hanna, M.G.
|
|
1997
|
7 |
6-7 |
p. 450-
1 p.
|
artikel
|
| 67 |
Decreased cerebrovascular reserve capacity in patients with various types of mitochondrial disorders
|
Molnar, M.
|
|
1997
|
7 |
6-7 |
p. 450-451
2 p.
|
artikel
|
| 68 |
Dermatomyositis and Whipple's disease
|
Helliwell, T.R.
|
|
1997
|
7 |
6-7 |
p. 453-
1 p.
|
artikel
|
| 69 |
Determining physical fitness levels of children with neuromuscular dyseases
|
Karaduman, Ayse
|
|
1997
|
7 |
6-7 |
p. 447-448
2 p.
|
artikel
|
| 70 |
Differential diagnosis of ataxic syndromes in childhood: a five years experience of the Child Neurology and Psychiatry Service in Reggio Emilia
|
Pini, A.
|
|
1997
|
7 |
6-7 |
p. 456-
1 p.
|
artikel
|
| 71 |
Discordant clinical outcome in patients with limb girdle muscular dystrophy 2C showing the same deletion pattern
|
Politano, L.
|
|
1997
|
7 |
6-7 |
p. 440-
1 p.
|
artikel
|
| 72 |
Distal myopathy and limb-girdle muscular dystrophy in the same family: one gene for different phenotypes?
|
Angelini, Corrado
|
|
1997
|
7 |
6-7 |
p. 462-
1 p.
|
artikel
|
| 73 |
Distal myopathy of Miyoshi and Nonaka types: a clinical, pathological and quantitative EMG study of 7 cases
|
Fernandez, J.M.
|
|
1997
|
7 |
6-7 |
p. 462-463
2 p.
|
artikel
|
| 74 |
Distal myopathy of Miyoshi type: report of 21 French cases
|
Eymard, B.
|
|
1997
|
7 |
6-7 |
p. 461-
1 p.
|
artikel
|
| 75 |
Distal myopathy with rimmed vacuole formation (DMRV)
|
Nonaka, Ikuya
|
|
1997
|
7 |
6-7 |
p. 458-459
2 p.
|
artikel
|
| 76 |
Distrubances of neuromuscular interaction may contribute to muscle weakness in spinal muscular atrophy
|
Greensmith, Linda
|
|
1997
|
7 |
6-7 |
p. 369-372
4 p.
|
artikel
|
| 77 |
Duplication of dystrophin exon 18 in a DMD patient with mental retardation
|
Bettecken, Thomas
|
|
1997
|
7 |
6-7 |
p. 435-436
2 p.
|
artikel
|
| 78 |
Dystrophic central core disease or muscular dystrophy with central cores? A possible new autosomal recessive disorder with central core disease
|
Manzur, A.
|
|
1997
|
7 |
6-7 |
p. 428-
1 p.
|
artikel
|
| 79 |
Dystrophin associated glycoprotein complex in a particular case of Becker muscular dystrophy
|
Rivier, F.
|
|
1997
|
7 |
6-7 |
p. 435-
1 p.
|
artikel
|
| 80 |
Dystrophinopathy in a boy with Chidiak-Higashi syndrome
|
von Moers, Arpad
|
|
1997
|
7 |
6-7 |
p. 474-475
2 p.
|
artikel
|
| 81 |
Dystrophinopathy or sarcoglycanopathy: the importance of a full diagnostic assessment in suspected manifesting carriers of Duchenne and Becker muscular dystrophy
|
Bushby, K.
|
|
1997
|
7 |
6-7 |
p. 438-
1 p.
|
artikel
|
| 82 |
Early onset autosomal dominant myopathy with external ophthalmoplegia and rimmed vacuoles in muscle fibers
|
Darin, N.
|
|
1997
|
7 |
6-7 |
p. 460-
1 p.
|
artikel
|
| 83 |
Early onset X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy
|
Sewry, C.A.
|
|
1997
|
7 |
6-7 |
p. 444-445
2 p.
|
artikel
|
| 84 |
Effect of vitamin B6 in McArdle's disease: a strategic case study
|
Phoenix, Joanne
|
|
1997
|
7 |
6-7 |
p. 448-
1 p.
|
artikel
|
| 85 |
Effects of chronic administration of minoxidil and acetazolamide on an animal model of hypokalemic periodic paralysis (HOPP)
|
Tricarico, D.
|
|
1997
|
7 |
6-7 |
p. 449-
1 p.
|
artikel
|
| 86 |
Electromyoneurographycal abnormalities and DNA analyses in Croatian children with proximal spinal muscular atrophies (SMA)
|
Barisic, N.
|
|
1997
|
7 |
6-7 |
p. 475-
1 p.
|
artikel
|
| 87 |
Electron transport chain activities in dermatomyositis
|
Casademont, J.
|
|
1997
|
7 |
6-7 |
p. 452-453
2 p.
|
artikel
|
| 88 |
Epidemiology of inclusion body myositis in the Netherlands
|
Badrising, U.A.
|
|
1997
|
7 |
6-7 |
p. 463-464
2 p.
|
artikel
|
| 89 |
Etiopathogenic factors of bladder dysfunctions in the neuromuscular diseases
|
Viet, G.L.
|
|
1997
|
7 |
6-7 |
p. 447-
1 p.
|
artikel
|
| 90 |
Exon 25 frameshift deletion associated with intermediate Duchenne/Becker phenotype
|
Phillips, M.F.
|
|
1997
|
7 |
6-7 |
p. 435-
1 p.
|
artikel
|
| 91 |
Expression and mitochondrial localisation of frataxin, the Friedreich's ataxia gene product
|
Cavadini, P.
|
|
1997
|
7 |
6-7 |
p. 467-468
2 p.
|
artikel
|
| 92 |
Expression of peripheral myelin protein-22 (PMP22)-mRNA in hereditary motor and sensory neuropathy type 1 (HMSN 1)
|
Grehl, H.
|
|
1997
|
7 |
6-7 |
p. 470-471
2 p.
|
artikel
|
| 93 |
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
|
7 |
6-7 |
p. 475-
1 p.
|
artikel
|
| 94 |
Familial amyloidotic polyneuropathy: evidence of a novel upstream promoter driving the gene expression in liver and cerebellum from patients and controls
|
Ferlini, Alessandra
|
|
1997
|
7 |
6-7 |
p. 470-
1 p.
|
artikel
|
| 95 |
Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration
|
Kuntzer, Thierry
|
|
1997
|
7 |
6-7 |
p. 462-
1 p.
|
artikel
|
| 96 |
Feeding problems in merosin-deficient congenital muscular dystrophy
|
Philpot, J.
|
|
1997
|
7 |
6-7 |
p. 433-
1 p.
|
artikel
|
| 97 |
Friedreich ataxia: clinical and genetic aspects
|
Pandolfo, Massimo
|
|
1997
|
7 |
6-7 |
p. 465-
1 p.
|
artikel
|
| 98 |
Friedreich's ataxia phenotype with vitamin E deficiency (FAVED): an overview
|
Hentati, Fayçal
|
|
1997
|
7 |
6-7 |
p. 466-
1 p.
|
artikel
|
| 99 |
Gamma-sarcoglycan deficiency; specific mutation for the gypsy patients
|
Colomer, J.
|
|
1997
|
7 |
6-7 |
p. 440-
1 p.
|
artikel
|
| 100 |
Genetic and allelic heterogeneity of LGMD in North Africa
|
Azibi, K.
|
|
1997
|
7 |
6-7 |
p. 441-
1 p.
|
artikel
|
| 101 |
Genetic counseling and molecular analysis of muscular dystrophy families in Israel
|
Legum, Cyril
|
|
1997
|
7 |
6-7 |
p. 434-
1 p.
|
artikel
|
| 102 |
Genetics of central core disease and its relationship to malignant hyperthermia
|
Mueller, Clemens R.
|
|
1997
|
7 |
6-7 |
p. 427-
1 p.
|
artikel
|
| 103 |
Genetics of dominant ataxias
|
Brice, Alexis
|
|
1997
|
7 |
6-7 |
p. 465-
1 p.
|
artikel
|
| 104 |
Giant axonal neuropathy: clinical study and genetic mapping
|
Hamida, C. Ben
|
|
1997
|
7 |
6-7 |
p. 467-
1 p.
|
artikel
|
| 105 |
Gln15 missense mutation in the connexin 32 gene in a CMTX Italian family
|
Gobbi, P.
|
|
1997
|
7 |
6-7 |
p. 471-
1 p.
|
artikel
|
| 106 |
Hereditary motor and sensory neuropathy-Lom (HMSNL) in an Italian gypsy family
|
Trogu, Adriana
|
|
1997
|
7 |
6-7 |
p. 467-
1 p.
|
artikel
|
| 107 |
Hereditary myopathy with rimmed vacuoles: report of two unusual pedigrees
|
Schaeffer, S.
|
|
1997
|
7 |
6-7 |
p. 464-
1 p.
|
artikel
|
| 108 |
Hereditary sensory neuropathy associated with muscular atrophy affecting 7 members of one kindred
|
Zouari, M.
|
|
1997
|
7 |
6-7 |
p. 456-
1 p.
|
artikel
|
| 109 |
Heterogeneous clinical spectrum of alpha-sarcoglycanopathies (adhalinopathy) in Saudi Arabian patients
|
Bohlega, S.
|
|
1997
|
7 |
6-7 |
p. 441-
1 p.
|
artikel
|
| 110 |
High frequency of epilepsy and mental retardation in early onset 4q35-facioscapulohumeral muscular dystrophy with huge deletion of KpnI repeats
|
Funakoshi, Masanori
|
|
1997
|
7 |
6-7 |
p. 443-
1 p.
|
artikel
|
| 111 |
Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with severe nemaline myopathy
|
Tan, P.
|
|
1997
|
7 |
6-7 |
p. 427-428
2 p.
|
artikel
|
| 112 |
Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
|
LeGuern, E.
|
|
1997
|
7 |
6-7 |
p. 466-467
2 p.
|
artikel
|
| 113 |
Immunocytochemical detection of emerin within the nuclear matrix
|
Squarzoni, S.
|
|
1997
|
7 |
6-7 |
p. 444-
1 p.
|
artikel
|
| 114 |
Immunocytochemical studies in congenital myopathies
|
Sewry, C.A.
|
|
1997
|
7 |
6-7 |
p. 426-427
2 p.
|
artikel
|
| 115 |
Immunofluorescence and Western blot analysis on human skeletal muscle using antibodies directed against different regions of the muscle-specific calpain
|
Romero, Norma Beatriz
|
|
1997
|
7 |
6-7 |
p. 442-
1 p.
|
artikel
|
| 116 |
Immunohistochemistry and ultrastructure of rimmed vacuolar fibers in tibial muscular dystrophy
|
Udd, Bjarne
|
|
1997
|
7 |
6-7 |
p. 459-
1 p.
|
artikel
|
| 117 |
Incidence of CMTIA in a pediatric neuromuscular clinic
|
Escobar, Raul G.
|
|
1997
|
7 |
6-7 |
p. 454-
1 p.
|
artikel
|
| 118 |
Inspiratory muscle training in patients with Duchenne muscular dystrophy
|
Wild, M.
|
|
1997
|
7 |
6-7 |
p. 437-438
2 p.
|
artikel
|
| 119 |
Intermuscular variation in X-linked myotubular myopathy
|
Helliwell, T.R.
|
|
1997
|
7 |
6-7 |
p. 428-
1 p.
|
artikel
|
| 120 |
Involvement of human DNase II-like gene in the pathogenesis of an X-linked cardiomyopathy and autophagic vacuolar myophathy
|
Biunno, I.
|
|
1997
|
7 |
6-7 |
p. 447-
1 p.
|
artikel
|
| 121 |
Is the del521T mutation in the gamma-sarcoglycan gene a founder mutation in Mediterranean countries?
|
Leturcq, F.
|
|
1997
|
7 |
6-7 |
p. 441-
1 p.
|
artikel
|
| 122 |
Known and novel sarcoglycan gene mutations in Portuguese patients
|
dos Santos, M.R.
|
|
1997
|
7 |
6-7 |
p. 439-
1 p.
|
artikel
|
| 123 |
Learning difficulties in Duchenne muscular dystrophy: characterisation and correlation with genetic mutation
|
Male, A.M.
|
|
1997
|
7 |
6-7 |
p. 437-
1 p.
|
artikel
|
| 124 |
LGMD 2E in Tunisia is caused by a missense mutation Arg91Leu in β-sarcoglycan
|
Bönnemann, C.
|
|
1997
|
7 |
6-7 |
p. 460-
1 p.
|
artikel
|
| 125 |
Limb girdle muscular dystrophy with calpain deficiency in Guipuzcoa (Basque country, Spain)
|
Urtizberea, J.A.
|
|
1997
|
7 |
6-7 |
p. 442-
1 p.
|
artikel
|
| 126 |
Linkage in tibial muscular dystrophy (TMD) on chromosome 2q31–33
|
Haravuori, Henna
|
|
1997
|
7 |
6-7 |
p. 459-
1 p.
|
artikel
|
| 127 |
Linkage mapping of hereditary motor and sensory neuropathy with spastic paraplegia (HMSN V): preliminary results
|
Mostacciuolo, M.L.
|
|
1997
|
7 |
6-7 |
p. 472-
1 p.
|
artikel
|
| 128 |
Linkage to the myelin protein zero locus in a family with intermediate HMSN
|
Stell, R.
|
|
1997
|
7 |
6-7 |
p. 470-
1 p.
|
artikel
|
| 129 |
Long-term prognosis in congenital muscular dystrophy without mental retardation
|
Pihko, Helena
|
|
1997
|
7 |
6-7 |
p. 432-433
2 p.
|
artikel
|
| 130 |
Macro-EMG in carriers of Duchenne muscular dystrophy
|
Szmidt-Salkowska, E.
|
|
1997
|
7 |
6-7 |
p. 474-
1 p.
|
artikel
|
| 131 |
Malignant hyperthermia in a patient with King Denborough syndrome lack of correlation with the RYR gene mutation
|
Echenne, B.
|
|
1997
|
7 |
6-7 |
p. 430-
1 p.
|
artikel
|
| 132 |
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
|
7 |
6-7 |
p. 460-461
2 p.
|
artikel
|
| 133 |
Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI
|
Topaloglu, H.
|
|
1997
|
7 |
6-7 |
p. 429-
1 p.
|
artikel
|
| 134 |
Merosin positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families
|
Topaloglu, H.
|
|
1997
|
7 |
6-7 |
p. 433-
1 p.
|
artikel
|
| 135 |
Minicore myopathy: cave noctem!
|
Goemans, N.
|
|
1997
|
7 |
6-7 |
p. 428-
1 p.
|
artikel
|
| 136 |
Mitochondrial dysfunction with MERRF point-mutation in nerve and mucle tissue of a patient with multiple symmetric lipomatosis
|
Reichmann, H.
|
|
1997
|
7 |
6-7 |
p. 450-
1 p.
|
artikel
|
| 137 |
Mitochondrial myopathy with demyelination polyneuropathy
|
Gouider-Khouja, N.
|
|
1997
|
7 |
6-7 |
p. 451-
1 p.
|
artikel
|
| 138 |
Miyoshi myopathy in Saudi Arabia
|
Cupler, Edward J.
|
|
1997
|
7 |
6-7 |
p. 461-462
2 p.
|
artikel
|
| 139 |
Miyoshi-type distal muscular dystrophy: clinical features of 24 Dutch patients
|
Linssen, W.H.J.P.
|
|
1997
|
7 |
6-7 |
p. 462-
1 p.
|
artikel
|
| 140 |
Molecular evidence of clinical heterogeneity in Fukuyama type congenital muscular dystrophy
|
Saito, Kayoko
|
|
1997
|
7 |
6-7 |
p. 429-
1 p.
|
artikel
|
| 141 |
Molecular genetic analysis helps in diagnostics of autosomal dominant cerebellar ataxias
|
Ovtchinnikova, O.
|
|
1997
|
7 |
6-7 |
p. 457-
1 p.
|
artikel
|
| 142 |
MRI to evaluate muscle involvement in patients with autosomal dominant facioscapulolimb muscular dystrophy, type 2 (FSLD2) (or facioscapuloperoneal)
|
Rudenko, D.
|
|
1997
|
7 |
6-7 |
p. 443-
1 p.
|
artikel
|
| 143 |
MTMI gene mutations in Japanese patients with X-linked myotubular myopathy
|
Nishino, Ichizo
|
|
1997
|
7 |
6-7 |
p. 428-429
2 p.
|
artikel
|
| 144 |
Multi minicore disease myopathy: 20 cases
|
Estournet, B.
|
|
1997
|
7 |
6-7 |
p. 431-
1 p.
|
artikel
|
| 145 |
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
|
7 |
6-7 |
p. 438-
1 p.
|
artikel
|
| 146 |
Muscle CT scans in neuromuscular diseases: a follow-up study
|
Marconi, Giampiero
|
|
1997
|
7 |
6-7 |
p. 473-
1 p.
|
artikel
|
| 147 |
Mutations in the LAMA2 gene in patients with muscular dystrophy due to partial merosin deficiency
|
Naom, I.
|
|
1997
|
7 |
6-7 |
p. 434-
1 p.
|
artikel
|
| 148 |
Mutations of the glutamate transporter gene EAAT2 do not cause the abnormal EAAT2 transcripts in patients with amyotrophic lateral sclerosis
|
Aoki, Masashi
|
|
1997
|
7 |
6-7 |
p. 475-
1 p.
|
artikel
|
| 149 |
Myasthenia in children: 38 cases
|
Estournet-Mathiaud, B.
|
|
1997
|
7 |
6-7 |
p. 452-
1 p.
|
artikel
|
| 150 |
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
|
7 |
6-7 |
p. 446-
1 p.
|
artikel
|
| 151 |
Myotubular myopathy in a female
|
Helliwell, T.R.
|
|
1997
|
7 |
6-7 |
p. 431-
1 p.
|
artikel
|
| 152 |
42nd ENMC Sponsored International Workshop: X-linked cardiomyopathies 21–23 June 1996, Naarden, The Netherlands
|
Nigro, Giovanni
|
|
1997
|
7 |
6-7 |
p. 397-403
7 p.
|
artikel
|
| 153 |
Nemaline myopathy and the myotubular myopathies
|
Wallgren-Pettersson, Carina
|
|
1997
|
7 |
6-7 |
p. 427-
1 p.
|
artikel
|
| 154 |
Neuropathology of infantile onset spinocerebellar ataxia
|
Lönnqvist, T.
|
|
1997
|
7 |
6-7 |
p. 468-469
2 p.
|
artikel
|
| 155 |
New species of muspiceoid nematode causes polymyositis
|
Dennett, Xenia
|
|
1997
|
7 |
6-7 |
p. 453-454
2 p.
|
artikel
|
| 156 |
Normal visual function in children with pure congenital muscular dystrophy
|
Mercuri, E.
|
|
1997
|
7 |
6-7 |
p. 433-434
2 p.
|
artikel
|
| 157 |
[No title]
|
Emery, Alan
|
|
1997
|
7 |
6-7 |
p. 411-412
2 p.
|
artikel
|
| 158 |
[No title]
|
Emery, Alan E.H.
|
|
1997
|
7 |
6-7 |
p. 412-
1 p.
|
artikel
|
| 159 |
[No title]
|
Fawcett, Peter R.W.
|
|
1997
|
7 |
6-7 |
p. 411-
1 p.
|
artikel
|
| 160 |
Oral muscle functions in patients with myasthenia gravis
|
Weijnen, F.G.
|
|
1997
|
7 |
6-7 |
p. 451-452
2 p.
|
artikel
|
| 161 |
Overview of distal myopathies: from the clinical to the molecular
|
Griggs, Robert C.
|
|
1997
|
7 |
6-7 |
p. 457-458
2 p.
|
artikel
|
| 162 |
Oxidative stress as a potential pathogenic mechanism in an animal model of Duchenne muscular dystrophy
|
Ragusa, Robert J.
|
|
1997
|
7 |
6-7 |
p. 379-386
8 p.
|
artikel
|
| 163 |
Penetrance of the FSHD mutation differs according to the D4Z4 repeat number
|
de Toma, C.
|
|
1997
|
7 |
6-7 |
p. 444-
1 p.
|
artikel
|
| 164 |
Peripheral neuropathy associated with mitochondrial myopathy
|
Chu, Chun-Che
|
|
1997
|
7 |
6-7 |
p. 451-
1 p.
|
artikel
|
| 165 |
Persistent motor neuron discharges of central origin aggravated by alcohol
|
Al-Jumah, M.
|
|
1997
|
7 |
6-7 |
p. 474-
1 p.
|
artikel
|
| 166 |
Phenotype-genotype correlations in SCA1, SCA2, SCA3/MJD and SCA6
|
Durr, Alexandra
|
|
1997
|
7 |
6-7 |
p. 469-
1 p.
|
artikel
|
| 167 |
Physical mapping of the Miyoshi myopathy/LGMD2B locus on chromosome 2p13
|
Liu, J.
|
|
1997
|
7 |
6-7 |
p. 458-
1 p.
|
artikel
|
| 168 |
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
|
7 |
6-7 |
p. 436-
1 p.
|
artikel
|
| 169 |
31P-NMR spectroscopy in muscle phosphofructokinase deficiency
|
Grehl, T.
|
|
1997
|
7 |
6-7 |
p. 449-
1 p.
|
artikel
|
| 170 |
Polyneuropathy in 8 glue-sniffers
|
Turki, I.
|
|
1997
|
7 |
6-7 |
p. 456-
1 p.
|
artikel
|
| 171 |
Prevalence of Becker muscular dystrophy in south west of France
|
Ferrer, X.
|
|
1997
|
7 |
6-7 |
p. 436-
1 p.
|
artikel
|
| 172 |
Primary AMP deaminase deficiency in childhood
|
Bruno, C.
|
|
1997
|
7 |
6-7 |
p. 449-450
2 p.
|
artikel
|
| 173 |
Progression of muscle involvement in Miyoshi myopathy by CT and MRI muscle imaging
|
Meola, G.
|
|
1997
|
7 |
6-7 |
p. 461-
1 p.
|
artikel
|
| 174 |
Progressive swelling and stiffness of the extremities: another case of eosinophilic fasciitis
|
Broere, D.
|
|
1997
|
7 |
6-7 |
p. 454-
1 p.
|
artikel
|
| 175 |
Protection of extraocular muscle in murine merosin-deficient congenital muscular dystrophy correlates with normal cation homeostasis
|
Porter, J.D.
|
|
1997
|
7 |
6-7 |
p. 432-
1 p.
|
artikel
|
| 176 |
Proximal conduction block studies and response to intravenous immunoglobulin therapy in multifocal motor neuropathy
|
Jaspert, A.
|
|
1997
|
7 |
6-7 |
p. 456-
1 p.
|
artikel
|
| 177 |
Quadruple A syndrome in two adolescents
|
Iannaccone, Susan T.
|
|
1997
|
7 |
6-7 |
p. 455-
1 p.
|
artikel
|
| 178 |
Recessive sensory and motor hereditary neuropathy associated with juvenile glaucoma
|
Gouider, R.
|
|
1997
|
7 |
6-7 |
p. 471-472
2 p.
|
artikel
|
| 179 |
Refinement of the linkage region of the distal myopathy MPD1 and exclusion of candidate genes
|
Binz, N.
|
|
1997
|
7 |
6-7 |
p. 460-
1 p.
|
artikel
|
| 180 |
Repeat expansion and phenotypic variability of Friedreich's ataxia in families of different ethnic origin from European-Asian region
|
Ovchinnikov, I.
|
|
1997
|
7 |
6-7 |
p. 457-
1 p.
|
artikel
|
| 181 |
Respiratory muscle involvement in dermatomyositis
|
Lahrmann, H
|
|
1997
|
7 |
6-7 |
p. 453-
1 p.
|
artikel
|
| 182 |
Restrictive cardiomyopathy and congenital myopathy: a new disease due to a defective transition from neonatal to adult myosin?
|
Toscano, Antonio
|
|
1997
|
7 |
6-7 |
p. 429-430
2 p.
|
artikel
|
| 183 |
rp-HPLC fractionation of muscle proteins as an initial step for the identification of autoantigens in inclusion body myositis (IBM)
|
Verschuuren, J.J.
|
|
1997
|
7 |
6-7 |
p. 464-
1 p.
|
artikel
|
| 184 |
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy
|
Ginjaar, H.B.
|
|
1997
|
7 |
6-7 |
p. 440-
1 p.
|
artikel
|
| 185 |
Skewed X inactivation in manifesting carries of Duchenne muscular dystrophy
|
Yoshioka, Mieko
|
|
1997
|
7 |
6-7 |
p. 434-
1 p.
|
artikel
|
| 186 |
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
|
7 |
6-7 |
p. 443-
1 p.
|
artikel
|
| 187 |
Spinocerebellar ataxias: analysis of CAG expansions at SCA1, SCA 2, SCA 3, and SCA 6 loci in Italian families
|
Nardacchione, A.
|
|
1997
|
7 |
6-7 |
p. 469-
1 p.
|
artikel
|
| 188 |
Standardized evaluation of respiratory muscle endurance in children with progressive muscular dystrophy
|
Matecki, S.
|
|
1997
|
7 |
6-7 |
p. 438-
1 p.
|
artikel
|
| 189 |
Study of muscle regeneration in muscular dystrophies
|
Mechler, F.
|
|
1997
|
7 |
6-7 |
p. 474-
1 p.
|
artikel
|
| 190 |
The axonal form of autosomal recessive Charcot-Marie-Tooth (CMT) disease: a phenotype study of 4 Moroccan families
|
Birouk, N.
|
|
1997
|
7 |
6-7 |
p. 470-
1 p.
|
artikel
|
| 191 |
The clinical and histopathological spectrum of limb girdle syndrome in Egypt
|
Etribi, M.A.
|
|
1997
|
7 |
6-7 |
p. 439-
1 p.
|
artikel
|
| 192 |
The endoneurial inflammatory reaction in 31 patients with onion-bulb formations
|
Vital, C.
|
|
1997
|
7 |
6-7 |
p. 473-
1 p.
|
artikel
|
| 193 |
The frataxin story
|
Campuzano, Victoria
|
|
1997
|
7 |
6-7 |
p. 466-
1 p.
|
artikel
|
| 194 |
The impact of the molecular data on clinical practice in facio-scapulohumeral muscular dystrophy (FSHD)
|
Ricci, Enzo
|
|
1997
|
7 |
6-7 |
p. 443-444
2 p.
|
artikel
|
| 195 |
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
|
7 |
6-7 |
p. 404-406
3 p.
|
artikel
|
| 196 |
49th ENMC-Sponsored International Workshop: Fibrodysplasia (Myositis) Ossificans Progressiva (FOP) 14–16 February 1997, Naarden, The Netherlands
|
Smith, R.
|
|
1997
|
7 |
6-7 |
p. 407-410
4 p.
|
artikel
|
| 197 |
The onset and distribution of muscle weakness in inclusion body myositis (IBM)
|
Badrising, U.A.
|
|
1997
|
7 |
6-7 |
p. 464-
1 p.
|
artikel
|
| 198 |
The phenotypes of autosomal recessive HSMN linked to chromosomes 5q and 11q
|
Salih, M.A.
|
|
1997
|
7 |
6-7 |
p. 472-
1 p.
|
artikel
|
| 199 |
Therapeutic effects of tocainide and mexiletine analogs on myotonic MTO and ADR mice
|
De Luca, A.
|
|
1997
|
7 |
6-7 |
p. 447-
1 p.
|
artikel
|
| 200 |
The three faces of lysosomal glycogen storage
|
Mellor, D.H.
|
|
1997
|
7 |
6-7 |
p. 448-
1 p.
|
artikel
|
| 201 |
Threshold expression of the tRNAlys A8344G mutation in single muscle fibres
|
Moslemi, A.-R.
|
|
1997
|
7 |
6-7 |
p. 450-
1 p.
|
artikel
|
| 202 |
Thymoma associated with myasthenia gravis in a 12 year old girl
|
Goemans, N.
|
|
1997
|
7 |
6-7 |
p. 452-
1 p.
|
artikel
|
| 203 |
Thymomagenic myasthenia and demyelinization - immunodepended continuum
|
Shakarishvili, Roman R.
|
|
1997
|
7 |
6-7 |
p. 451-
1 p.
|
artikel
|
| 204 |
Tibial muscular dystrophy
|
Somer, H.
|
|
1997
|
7 |
6-7 |
p. 458-
1 p.
|
artikel
|
| 205 |
Toxoplasmic polymyositis revisited: case report and review of literature
|
Cuturic, Miroslav
|
|
1997
|
7 |
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| 206 |
Two sisters with autosomal recessive limb-girdle muscular dystrophy with gamma-sarcoglycanopathy (LGMD2C)
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Broere, D.
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1997
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| 207 |
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
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Hsu, John D.
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1997
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1 p.
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| 208 |
Vitamin B6 supplementation in McArdle's disease: a randomised, double-blind crossover trial
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Phoenix, Joanne
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1997
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7 |
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| 209 |
Welander distal myopathy: clinical, pathophysiological and molecular aspects
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Borg,
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1997
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| 210 |
Welander hereditary distal myopathy, a comparison to hereditary IBM (inclusion body myositis) and autosomal recessive distal myopathy with regard to molecular genetics
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Åhlberg, Gabrielle
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1997
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7 |
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p. 463-
1 p.
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| 211 |
X-linked Emery-Dreifuss muscular dystrophy: molecular diagnosis by protein analysis and use of the skin biopsy in female carriers
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Colomer, J.
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1997
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| 212 |
X-linked vacuolated myopathy: a new family
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Coquet, M.
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1997
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7 |
6-7 |
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