Found: 27
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Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0815-2
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- Publication type:
- Article
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1898, doi. 10.1002/humu.24445
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- Publication type:
- Article
Hypertrophie musculaire : signe de bonne santé ou de maladie ?
- Published in:
- Cahiers de Myologie, 2022, n. 25, p. 10, doi. 10.1051/myolog/202225004
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- Publication type:
- Article
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 929, doi. 10.1038/ejhg.2014.223
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- Article
The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.
- Published in:
- Biomedicines, 2024, v. 12, n. 2, p. 322, doi. 10.3390/biomedicines12020322
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- Publication type:
- Article
Long‐term prognosis of fatty‐acid oxidation disorders in adults: Optimism despite the limited effective therapies available.
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- European Journal of Neurology, 2024, v. 31, n. 2, p. 1, doi. 10.1111/ene.16138
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- Publication type:
- Article
Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease.
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- European Journal of Neurology, 2023, v. 30, n. 10, p. 3265, doi. 10.1111/ene.15937
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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.
- Published in:
- 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
Déficit en myoadénylate désaminase : une cause fréquente de douleurs musculaires À propos d'un cas dépisté par épreuve d'effort.
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- Annales de Biologie Clinique, 2017, v. 75, n. 4, p. 445, doi. 10.1684/abc.2017.1253
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- 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
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross‐over trial.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 517, doi. 10.1002/jimd.12479
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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.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1219, doi. 10.1002/jimd.12272
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- Publication type:
- Article
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 573, doi. 10.1007/s10545-014-9789-1
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- Publication type:
- Article
Myasthenia gravis treatment in the elderly presents with a significant iatrogenic risk: a multicentric retrospective study.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 12, p. 5819, doi. 10.1007/s00415-023-11925-6
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- Publication type:
- Article
A rise in cases of nitrous oxide abuse: neurological complications and biological findings.
- Published in:
- 2022
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- Publication type:
- Case Study
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 9, p. 3337, doi. 10.1007/s00415-021-10499-5
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- Publication type:
- Article
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
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- Journal of Neurology, 2017, v. 264, n. 8, p. 1791, doi. 10.1007/s00415-017-8569-x
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- Publication type:
- Article
Expanded phenotypic spectrum of the m.8344A>G 'MERRF' mutation: data from the German mitoNET registry.
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- Journal of Neurology, 2016, v. 263, n. 5, p. 961, doi. 10.1007/s00415-016-8086-3
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- Publication type:
- Article
Refining Incidence and Characteristics of Inflammatory Myopathies: A Quadruple‐Source Capture–Recapture Survey Using the 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria.
- Published in:
- Arthritis & Rheumatology, 2023, v. 75, n. 10, p. 1850, doi. 10.1002/art.42561
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- Publication type:
- Article
Comparison of Corticosteroid Tapering Regimens in Myasthenia Gravis: A Randomized Clinical Trial.
- Published in:
- JAMA Neurology, 2021, v. 78, n. 4, p. 426, doi. 10.1001/jamaneurol.2020.5407
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- Publication type:
- Article
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.
- Published in:
- 2017
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- Publication type:
- journal 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. 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
Myasthénie auto-immune séronégative.
- Published in:
- Médecine Sciences, 2017, v. 33, p. 34, doi. 10.1051/medsci/201733s107
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- Publication type:
- Article
Permanent muscle weakness in M CArdle disease.
- Published in:
- Muscle & Nerve, 2009, v. 40, n. 3, p. 350, doi. 10.1002/mus.21351
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- Publication type:
- Article