Digitale Bibliotheek
Sluiten Bladeren door artikelen uit een tijdschrift
     Tijdschrift beschrijving
       Alle jaargangen van het bijbehorende tijdschrift
         Alle afleveringen van het bijbehorende jaargang
                                       Alle artikelen van de bijbehorende aflevering
 
                             134 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Abnormal proteins in congenital muscular dystrophies Tomé, F.M.S.
1996
6 2 p. S17-
1 p.
artikel
2 A case of lyme disease with neurological manifestations and tumoral mass in the spinal cord Baslo, P.
1996
6 2 p. S31-
1 p.
artikel
3 Adenoviral gene therapy for duchenne muscular dystrophy Clemens, Paula R.
1996
6 2 p. S24-
1 p.
artikel
4 A mild adult myopathic variant of type iv glycogenosis Bornemann, A.
1996
6 2 p. 95-99
5 p.
artikel
5 Analysis of muscular dystrophies gene mutations in Southern Italy Politano, L.
1996
6 2 p. S12-
1 p.
artikel
6 Analysis of the emerin gene in familial and sporadic cases of emery-dreifuss muscular dystrophy Llense, S.
1996
6 2 p. S16-
1 p.
artikel
7 An autosomal-recessive congenital myasthenic syndrome with tubular aggregates in a libyan family Sieb, Jörn P.
1996
6 2 p. 115-119
5 p.
artikel
8 An efficient transfection method for all kind of cultured neural tissue: the biolistic technique Ausenda, C.D.
1996
6 2 p. S31-
1 p.
artikel
9 A novel non sense mutation in exon 72 of the dystrophin gene producing exon skipping in a bmd patient Melis, M.A.
1996
6 2 p. S12-
1 p.
artikel
10 Antimyotonic effects of enantiomers of mexiletine-like drugs De Luca, A.
1996
6 2 p. S19-
1 p.
artikel
11 Anti-skeletal muscle autoantibodies in malignant hyperthermia (MH) susceptible patients De Cauwer, H.
1996
6 2 p. S30-
1 p.
artikel
12 Applications of in situ hybridization to muscle embryology Fougerousae, F.
1996
6 2 p. S30-
1 p.
artikel
13 Assessment of ventilatory function in patients with neuromuscular diseases Gigliotti, F.
1996
6 2 p. S28-
1 p.
artikel
14 Asymptomatic dystrophinopathies: analysis of DNA, mRNA and protein Galluzzi, G.
1996
6 2 p. S13-
1 p.
artikel
15 Author index 1996
6 2 p. S36-S39
4 p.
artikel
16 Autosomal dominant muscular dystrophy with rimmed vacuoles: a nosological entity? Servidei, S.
1996
6 2 p. S10-
1 p.
artikel
17 Autosomal dominant spastic paraplegia in sardinia: preliminary linkage analysis results Dellavecchia, C.
1996
6 2 p. S33-
1 p.
artikel
18 Bethlem myopathy: clinical aspects de Visser, M.
1996
6 2 p. S14-
1 p.
artikel
19 Biochemical/molecular/clinical correlations in sarcoglycan complex disorders Hoffman, Eric P.
1996
6 2 p. S9-
1 p.
artikel
20 BMD diagnosis and molecular studies in 3 Italian asymptomatic families Donati, M.A.
1996
6 2 p. S13-
1 p.
artikel
21 Body hydration in duchenne muscular dystrophy Ballestrazzi, A.
1996
6 2 p. S35-
1 p.
artikel
22 Case report of overlap syndrome Scleroderma-Polymyositis, with peculiar involvement of trunk muscles Marchione, T.
1996
6 2 p. S27-
1 p.
artikel
23 Chromosome 13 liked muscular dystrophy Hamida, M.Ben
1996
6 2 p. S8-
1 p.
artikel
24 Chromosome 15-linked limb girdle muscular dystrophy — clinical phenotype Fardeau, M.
1996
6 2 p. S7-
1 p.
artikel
25 Chronic fatigue syndrome Giampiero, Marconi
1996
6 2 p. S25-
1 p.
artikel
26 Clinical, histochemical and biochemical aspects of dystrophynopathic cardiomyopathy Nigro, G.
1996
6 2 p. S27-
1 p.
artikel
27 Clinical, pathological and molecular genetic studies in an Italian family affected by hereditary amyloidosis Pelo, E.
1996
6 2 p. S35-
1 p.
artikel
28 Clinical phenotype in limb girdle dystrophies with defects in α, β & γ sarcoglycans Sewry, C.A.
1996
6 2 p. S10-
1 p.
artikel
29 Congenital myasthenic syndromes 34th ENMC international workshop, 10–11 June 1995 Middleton, L.T.
1996
6 2 p. 133-136
4 p.
artikel
30 Controlled trial of nimodipine in amyotrophic lateral sclerosis Miller, Robert G.
1996
6 2 p. 101-104
4 p.
artikel
31 Cytokines in myelin and axonal damage in Guillain-Barré syndrome: An immunohistochemical study Putzu, G.A.
1996
6 2 p. S26-
1 p.
artikel
32 Detection of Duchenne muscular dystrophy gene products in amniotic fluid and chorionic villus sampling cells — Possible application for prenatal diagnosis Yaffe, David
1996
6 2 p. S12-
1 p.
artikel
33 Diagnostics and carrier testing in DMD/BMD Bakker, E.
1996
6 2 p. S11-
1 p.
artikel
34 Distal myopathies and overlapping forms and intrafamiliar variability between distal myopathies and limb-girdle muscular dystrophies Somer, H.
1996
6 2 p. S15-
1 p.
artikel
35 DNA and RNA studies on spinal muscular atrophies Novelli, G.
1996
6 2 p. S20-
1 p.
artikel
36 Does myotonic dystrophy have a developmental basis and is it a single gene disorder? Johnson, K.J.
1996
6 2 p. S18-
1 p.
artikel
37 Effects of diltiazem and dantrolene in the mdx mouse Hauser, E.
1996
6 2 p. S34-
1 p.
artikel
38 EMG analysis with computerised techniques: feasibility and reliability in clinical evaluation of neuromuscular disease Ronchi, O.
1996
6 2 p. S28-
1 p.
artikel
39 Evaluation and treatment of myopathies Turnbull, D.M.
1996
6 2 p. 139-140
2 p.
artikel
40 Evaluation of respiratory pattern in neuromuscular patients Carnevali, P.
1996
6 2 p. S29-
1 p.
artikel
41 Evidence of genetic heterogeneity in facioscapulohumeral muscular dystrophy Italian families Tupler, R.
1996
6 2 p. S16-
1 p.
artikel
42 Exon-specific monoclonal antibodies against dystrophn for diagnosis and genetic deletion analysis in muscular dystrophy Man, Nguyen thi
1996
6 2 p. S14-
1 p.
artikel
43 Ex vivo gene therapy for myopathies: how to get enough myogenic cells? Salvatori, G.
1996
6 2 p. S23-
1 p.
artikel
44 Familial recurrent Bell's palsy in an Italian family Giardini, G.
1996
6 2 p. S34-
1 p.
artikel
45 Federica Dworzak (1952–1995) Cornelio, Ferdinando
1996
6 2 p. 137-
1 p.
artikel
46 From pathogenesis to therapy Pinelli, Paolo
1996
6 2 p. S20-
1 p.
artikel
47 Gene therapy for Duchenne muscular dystrophy: preclinical studies in the mdx mouse Dickson, George
1996
6 2 p. S23-
1 p.
artikel
48 Genetic, allelic and phenotypic heterogeneity of muscular dystrophies with primary and secondary involvement of adhalin (alpha-sarcoglycan) Kaplan, J.-C.
1996
6 2 p. S8-
1 p.
artikel
49 Genetic heterogeneity of oculopharyngeal muscular dystrophy (OPMD) Müller, C.R.
1996
6 2 p. S30-
1 p.
artikel
50 Genotype-phenotype relationships in myotonic dystrophy Pizzuti, Antonio
1996
6 2 p. S18-
1 p.
artikel
51 Genotype-phen type correlation and prognostic assessment in 463 patients with myotonic dystrophy Gennarelli, M.
1996
6 2 p. S19-
1 p.
artikel
52 Handbook of botulinum toxin treatment Cull, Roger E.
1996
6 2 p. 140-
1 p.
artikel
53 Hereditary motor and sensory neuropathies de Visser, M.
1996
6 2 p. S21-
1 p.
artikel
54 Hereditary neuropathy with liability to pressure palsies: clinical and molecular studies of two families Anichini, E.
1996
6 2 p. S22-
1 p.
artikel
55 Histopathology of mixed axonal and myelinic neuropathies: correlation of morphometric and EMG data Putzu, G.A.
1996
6 2 p. S21-
1 p.
artikel
56 Homozygous deletions of the SMN gene are associated with different phenotypes in SMA type III families Bussaglia, E.
1996
6 2 p. S22-
1 p.
artikel
57 Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases Martorell, L.
1996
6 2 p. S19-
1 p.
artikel
58 How is somnolence in myotonic dystrophy related to other aspects of the disorder? Phillips, M.F.
1996
6 2 p. S18-
1 p.
artikel
59 Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies Beckmann, J.S.
1996
6 2 p. S7-
1 p.
artikel
60 Identification of point mutations and polymorphisms in the dystrophin gene by SSCP analysis Lasa, A.
1996
6 2 p. S13-
1 p.
artikel
61 Immune-mediated polyneuropathies Nobile-Orazio, Eduardo
1996
6 2 p. S25-
1 p.
artikel
62 Immunoelectromicroscopy localization of merosin in the human skeletal muscle and peripheral nerve Villanova, Marcello
1996
6 2 p. S32-
1 p.
artikel
63 Immunohistochemical studies of muscle and nerve in merosin-deficient congenital muscular dystrophy Piantadosi, C.
1996
6 2 p. S18-
1 p.
artikel
64 Immunohistochemistry, immunoblot and PCR multiplex results in 16 patients with cramp/myalgia and/or rhabdomyolysis Bâeta, A.M.
1996
6 2 p. S30-
1 p.
artikel
65 Immunolocalization of 70 KD heat shock protein in inflammatory and non inflammatory myopathies Volpi, N.
1996
6 2 p. S26-
1 p.
artikel
66 Impaired contractile properties in single muscle fibres isolated from patients affected by FSHD Bottinelli, R.
1996
6 2 p. S16-
1 p.
artikel
67 Irena Hausmanowa-Petrusewicz 50 years for neurology and neuromuscular diseases Ignatius, Jaakko
1996
6 2 p. 121-123
3 p.
artikel
68 Limb-girdle muscular dystrophy: A follow-up study of 79 patients Mahjneh, I.
1996
6 2 p. S9-
1 p.
artikel
69 Merosin-negative congenital muscular dystrophy, cortical dysplasia and epilepsy: An association to investigate Pini, A.
1996
6 2 p. S17-
1 p.
artikel
70 Microsatellite analysis in carrier detection and prenatal diagnosis of duchenne and becker muscular dystrophy Tedeschi, S.
1996
6 2 p. S13-
1 p.
artikel
71 Mitochondrial encephalomyopathies: Gene mutation 1996
6 2 p. XI-XIV
nvt p.
artikel
72 Molecular genetics of chromosome 2-linked LGMD Bushby, K.
1996
6 2 p. S7-
1 p.
artikel
73 Molecular investigation of bethlem myopathy Bolhuis, Pieter A.
1996
6 2 p. S15-
1 p.
artikel
74 Molecular mechanism of DNA rearrangements implicated in FSH dystrophy and applications to the diagnosis of the disease Cacurri, S.
1996
6 2 p. S14-
1 p.
artikel
75 Molecular scanning for point mutations in DMD/BMD Ferrari, M.
1996
6 2 p. S11-
1 p.
artikel
76 Monoclonal antibodies against emerin, for the diagnosis of emery-dreifuss muscular dystrophy Maniw, Sushila
1996
6 2 p. S16-
1 p.
artikel
77 Morphological and electrophysiological study in limb girdle sindrome (LGS):Possible correlations Lori, S.
1996
6 2 p. S10-
1 p.
artikel
78 Motor neuron disease Mitchell, J.D.
1996
6 2 p. 141-
1 p.
artikel
79 Muscle CT findings in 33 patients with myotonic muscular dystrophy Cappellini, M.
1996
6 2 p. S20-
1 p.
artikel
80 Muscle CT in peripheral neuropathies Marconi, G.
1996
6 2 p. S22-
1 p.
artikel
81 Muscle imaging in NMD Phoenix, Joanne
1996
6 2 p. S28-
1 p.
artikel
82 Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency Villanova, Marcello
1996
6 2 p. S32-
1 p.
artikel
83 Mutation analysis of the CLCN1 gene in ITALIAN patients affected by thomsen myotonia congenita and generalized becker myotonia Sangiuolo, F.
1996
6 2 p. S19-
1 p.
artikel
84 Mutation detection by double strand conformation analysis provides rapid molecular diagnosis for duchenne and becker muscular dystrophies Saad, Fawzy A.
1996
6 2 p. S11-
1 p.
artikel
85 Mutations in the emery-dreifuss muscular dystrophy gene and evidence for an autosomal form Bione, Silvia
1996
6 2 p. S15-
1 p.
artikel
86 Myoblast mediated gene transfer by intra-arterial injection in MDX mouse Bresolin, N.
1996
6 2 p. S24-
1 p.
artikel
87 Myoblast transfer in m.d. Partridge, T.A.
1996
6 2 p. S23-
1 p.
artikel
88 Myotonic dystrophy muscle shows decreased insulin receptor RNA: relationship to increased insulin resistance Morrone, A.
1996
6 2 p. S20-
1 p.
artikel
89 Necrotic myopathy and cutaneous vasculitis after intravenous streptokinase Uncini, A.
1996
6 2 p. S33-
1 p.
artikel
90 Neuromuscular complications in critically ill patients: proposal for a standardized protocol of clinical and neurophysiological evaluation Macucci, Marco
1996
6 2 p. S29-
1 p.
artikel
91 Neuromuscular complications of critical illness: electrophysiological studies Cantini, A.
1996
6 2 p. S28-
1 p.
artikel
92 Neuromuscular disorders: gene location 1996
6 2 p. I-IX
nvt p.
artikel
93 Neuromuscular involvement in systemic sclerosis (SSc) Lori, S.
1996
6 2 p. S34-
1 p.
artikel
94 Neuropsychological profile in mitochondrial encephalomyopathies Turconi, A.C.
1996
6 2 p. S33-
1 p.
artikel
95 Non-muscle dystrophin isoforms: Proteins in search of a function Comi, G.P.
1996
6 2 p. S11-
1 p.
artikel
96 Optimised protein diagnosis in the recessive muscular dystrophies Anderson, Louise V.B.
1996
6 2 p. S8-
1 p.
artikel
97 Paroxysmal myoglobinuria in a single family with carnitine palmitoyltransferase deficiency Marconi, R.
1996
6 2 p. S34-
1 p.
artikel
98 Pathogenetic aspects of polymyositis Emmi, L.
1996
6 2 p. S25-
1 p.
artikel
99 Periodic hypokaliemic paralysis: clinical and genetic molecular studies of a large inbred family Marconi, G.
1996
6 2 p. S35-
1 p.
artikel
100 Peripheral nerve disorders II Cull, Roger E.
1996
6 2 p. 139-
1 p.
artikel
101 Peripheral neuropathy in vasculitic and idiopathic hypereosinophilia: Differential features Massa, R.
1996
6 2 p. S32-
1 p.
artikel
102 Phenotype-genotype correlation with aticipation assists DNA models, gene search and clinical application for FSH dystrophy (FSHD) Lunt, P.W.
1996
6 2 p. S14-
1 p.
artikel
103 Phenotypic variation of mitochondrial DNA A8344G mutation Casali, C.
1996
6 2 p. S31-
1 p.
artikel
104 Polymyositis and iflammatory muscle diseases classification Serratrice, Georges
1996
6 2 p. S24-
1 p.
artikel
105 Polymyositis in hepatitis c treated with interferon-alpha (IFN-alpha) Uncini, A.
1996
6 2 p. S26-
1 p.
artikel
106 Postural control in diabetic patients with distal symmetric polyneuropathy Cincotta, M.
1996
6 2 p. S24-
1 p.
artikel
107 Proximal myotonic myopathy: Mini-review of a recently delineated clinical disorder Moxley III, Richard T.
1996
6 2 p. 87-93
7 p.
artikel
108 Recent advances in the classification of congenital muscular dystrophies Voit, Thomas
1996
6 2 p. S17-
1 p.
artikel
109 Reduction in central motor drive in the chronic fatigue syndrome (CFS) Sacco, P.
1996
6 2 p. S25-
1 p.
artikel
110 Regulation of il-6 secretion by human myoblasts Bartoccioni, E.
1996
6 2 p. S32-
1 p.
artikel
111 β-sarcoglycan : Characterization and role in limb-girdle muscular dystrophy linked to 4q12 Broux, O.
1996
6 2 p. S9-
1 p.
artikel
112 Screening for mutations in charcotmarie-tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP) Löfgren, A.
1996
6 2 p. S21-
1 p.
artikel
113 Search for the locus of LCCS, the lethal motoneuron disease of the fetus Mäkelä-Bengs, Päivi
1996
6 2 p. S22-
1 p.
artikel
114 Single fiber electromyography studies in healthy and diseased muscle, second edition Murray, N.M.F.
1996
6 2 p. 141-142
2 p.
artikel
115 Skeletal muscle differentiation is not disturbed in lccs despite of spinal motoneuron degeneration Vuopala, K.
1996
6 2 p. S21-
1 p.
artikel
116 Spinal muscular atrophy 32nd ENMC international workshop Naarden, The Netherlands, 10–12 March 1995 Munsat, T.
1996
6 2 p. 125-127
3 p.
artikel
117 SSCP analysis of the emerin gene Politano, Luisa
1996
6 2 p. S15-
1 p.
artikel
118 Survey of LGMD2A mutations Richard, I.
1996
6 2 p. S9-
1 p.
artikel
119 The clinical phenotype in congenital muscular dystrophy Dubowitz, Victor
1996
6 2 p. S17-
1 p.
artikel
120 The duchenne muscular dystrophy gene: A giant gene with multiple products Nudel, U.
1996
6 2 p. S12-
1 p.
artikel
121 The European neuromuscular centre (ENMC) support and promotion of neuromuscular research Rutgers, M.
1996
6 2 p. S29-
1 p.
artikel
122 The exercise test in the diagnosis and follow-up of two patients with thyrotoxic periodic hypokalemic paralysis Briccoli Bati, M.
1996
6 2 p. S35-
1 p.
artikel
123 The phenotype of chromosome 2P-linked limb-girdle muscular dystrophy Mahjneh, I.
1996
6 2 p. S7-
1 p.
artikel
124 Thymectomy in Myasthenia Gravis: immunocytochemical and immunological aspects Paolucci, R.
1996
6 2 p. S27-
1 p.
artikel
125 Tissue oxygenation in muscular dystrophy patients by near infrared spectroscopy Quaresima, V.
1996
6 2 p. S29-
1 p.
artikel
126 Toward a molecular epidemiology of DMD/BMD ? Danieli, G.A.
1996
6 2 p. S10-
1 p.
artikel
127 Towards the classification of LGMD Bushby, K.
1996
6 2 p. S8-
1 p.
artikel
128 Treatment of Myasthenia Gravis with high dose intravenous lummunoglobulin. An open trial and comparison with plasma-exchange Marconi, G.
1996
6 2 p. S26-
1 p.
artikel
129 Treatment of peripheral neuropathies by using high doses of intravenous immunoglobulin Marconi, G.
1996
6 2 p. S27-
1 p.
artikel
130 Twich response of striated muscle in patients with different kind of myopathy Grippo, A.
1996
6 2 p. S33-
1 p.
artikel
131 Underexpression of peripheral myelin protein (PMP22) in HNPP patients Nobbio, L.
1996
6 2 p. S23-
1 p.
artikel
132 Up-regulation of leukaemia inhibitory factor and interleukin-6 in transected sciatic nerve and muscle following denervation Kurek, J.B.
1996
6 2 p. 105-114
10 p.
artikel
133 Utrophin expression in skin smooth muscle. Immunohistochemical study Marbini, A.
1996
6 2 p. S31-
1 p.
artikel
134 X-Linked myotubular myopathy 33rd ENMC international workshop Soest, The Netherlands, 9–11 June 1995 Thomas, Nick
1996
6 2 p. 129-132
4 p.
artikel
                             134 gevonden resultaten
 
 Koninklijke Bibliotheek - Nationale Bibliotheek van Nederland