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Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0218-1
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- Publication type:
- Article
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 22, doi. 10.1186/s13023-014-0218-1
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- Publication type:
- Article
Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 2221, doi. 10.3390/ijms21062221
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- Publication type:
- Article
La Société Française de Myologie fête ses vingt ans !
- Published in:
- 2023
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- Publication type:
- Editorial
Thérapies innovantes et organisation des structures de soins.
- Published in:
- Médecine Sciences, 2019, v. 35, p. 51, doi. 10.1051/medsci/2019027
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- Publication type:
- Article
Mode d'emploi des Réunions de Concertation Pluridisciplinaire (RCP): Objectifs et principe de fonctionnement.
- Published in:
- Médecine Sciences, 2018, v. 34, p. 23, doi. 10.1051/medsci/201834s207
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- Publication type:
- Article
Éditorial.
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- Médecine Sciences, 2016, v. 32, p. 5, doi. 10.1051/medsci/201632s201
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- Publication type:
- Article
Home versus hospital immunoglobulin treatment for autoimmune neuropathies: A cost minimization analysis.
- Published in:
- Brain & Behavior, 2018, v. 8, n. 2, p. 1, doi. 10.1002/brb3.923
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- Publication type:
- Article
Focal neurogenic muscle hypertrophy and fasciculations in multifocal motor neuropathy.
- Published in:
- 2018
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- Publication type:
- journal article
Chronic inflammatory demyelinating polyradiculoneuropathy-causing myelopathy.
- Published in:
- 2018
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- Publication type:
- journal article
A case of primary erythermalgia with encephalopathy.
- Published in:
- 2009
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- Publication type:
- Letter
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0457-1
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- Publication type:
- Article
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-03008-6
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- Publication type:
- Article
Safety of Intravenous Immunoglobulin (Tegeline®), Administered at Home in Patients with Autoimmune Disease: Results of a French Study.
- Published in:
- BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/8147251
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- Publication type:
- Article
Rituximab in the Treatment of Refractory Anti-HMGCR Immune-mediated Necrotizing Myopathy.
- Published in:
- 2019
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- Publication type:
- journal article
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
- Published in:
- 2022
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- Publication type:
- journal article
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.
- Published in:
- 2021
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- Publication type:
- journal article
Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 83, doi. 10.3233/JND-210711
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- Publication type:
- Article
Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study.
- Published in:
- Clinical Kidney Journal, 2023, v. 16, n. 1, p. 100, doi. 10.1093/ckj/sfac195
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- Publication type:
- Article
Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 365, doi. 10.1111/cge.14358
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- Publication type:
- Article
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
- Published in:
- 2019
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- Publication type:
- journal article
Clinical and pathological aspects of toxic myopathies.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 9, p. 5722, doi. 10.1007/s00415-024-12522-x
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- Publication type:
- Article
The various forms of hereditary motor neuron disorders and their historical descriptions.
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- Journal of Neurology, 2024, v. 271, n. 7, p. 3978, doi. 10.1007/s00415-024-12462-6
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- Publication type:
- Article
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
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- Journal of Neurology, 2024, v. 271, n. 7, p. 4008, doi. 10.1007/s00415-024-12298-0
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- Publication type:
- Article
Usefulness of subcutaneous immunoglobulin therapy in the management of myasthenia gravis: a retrospective cohort study.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 12, p. 6572, doi. 10.1007/s00415-022-11345-y
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- Publication type:
- Article
Peripheral neuropathy and livedoid vasculopathy.
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- Journal of Neurology, 2022, v. 269, n. 7, p. 3779, doi. 10.1007/s00415-022-11007-z
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- Publication type:
- Article
Neurologic manifestations of giant cell arteritis.
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- Journal of Neurology, 2022, v. 269, n. 7, p. 3430, doi. 10.1007/s00415-022-10991-6
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- Publication type:
- Article
The ataxic neuropathies.
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- Journal of Neurology, 2021, v. 268, n. 10, p. 3675, doi. 10.1007/s00415-020-09994-y
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- Publication type:
- Article
Prognostic factor of poor outcome in anti-MAG neuropathy: clinical and electrophysiological analysis of a French Cohort.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 2, p. 561, doi. 10.1007/s00415-019-09618-0
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- Publication type:
- Article
Myopathy and scleromyxedema.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 8, p. 2051, doi. 10.1007/s00415-019-09379-w
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- Publication type:
- Article
Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1219, doi. 10.1002/jimd.12272
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- Publication type:
- Article
Late‐onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 937, doi. 10.1007/s10545-018-0243-7
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- Publication type:
- Article
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 937, doi. 10.1007/s10545-018-0243-7
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- Publication type:
- Article
Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 10, p. 1, doi. 10.1111/ene.16428
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- Publication type:
- Article
Macroglossia: A potentially severe complication of late‐onset Pompe disease.
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- European Journal of Neurology, 2022, v. 29, n. 7, p. 2121, doi. 10.1111/ene.15330
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- Publication type:
- Article
Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID‐19 pandemic.
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- European Journal of Neurology, 2022, v. 29, n. 4, p. 1181, doi. 10.1111/ene.15222
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- Publication type:
- Article
Deep phenotyping of an international series of patients with late‐onset dysferlinopathy.
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- European Journal of Neurology, 2021, v. 28, n. 6, p. 2092, doi. 10.1111/ene.14821
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- Publication type:
- Article
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD.
- Published in:
- Biomedicines, 2021, v. 9, n. 2, p. 219, doi. 10.3390/biomedicines9020219
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- Publication type:
- Article
REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1118, doi. 10.1002/humu.21542
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- Publication type:
- Article
Pandémie et soutien aux malades neuromusculaires : et si on en reparlait ?
- Published in:
- Cahiers de Myologie, 2022, n. 25, p. 16, doi. 10.1051/myolog/202225005
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- Publication type:
- Article
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1199, doi. 10.3390/genes12081199
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- Publication type:
- Article