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Quantitative muscle MRI study of patients with sporadic inclusion body myositis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Comparison of MRI and motor evoked potential with triple stimulation technique for the detection of brachial plexus abnormalities in multifocal motor neuropathy.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Combined quantification of fatty infiltration, T -relaxation times and T *-relaxation times in normal-appearing skeletal muscle of controls and dystrophic patients.
- Published in:
- MAGMA: Magnetic Resonance Materials in Physics, Biology & Medicine, 2017, v. 30, n. 4, p. 407, doi. 10.1007/s10334-017-0616-1
- By:
- Publication type:
- Article
Volume measurements of individual muscles in human quadriceps femoris using atlas-based segmentation approaches.
- Published in:
- MAGMA: Magnetic Resonance Materials in Physics, Biology & Medicine, 2016, v. 29, n. 2, p. 245, doi. 10.1007/s10334-016-0535-6
- By:
- Publication type:
- Article
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
- Published in:
- 2015
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibody.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8506, doi. 10.3390/ijms23158506
- By:
- 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
Myopathies inflammatoires et anoctaminopathies: Les points-clés pour éviter les erreurs diagnostiques.
- Published in:
- Médecine Sciences, 2022, v. 38, p. 44, doi. 10.1051/medsci/2022180
- By:
- Publication type:
- Article
Relabellisation de la Filière FILNEMUS : des objectifs ambitieux à l'horizon 2019-2023.
- Published in:
- 2019
- By:
- Publication type:
- Editorial
FILNEMUS : des objectifs ambitieux à l’horizon 2019-2023.
- Published in:
- Médecine Sciences, 2019, v. 35, p. 5, doi. 10.1051/medsci/2019238
- By:
- Publication type:
- Article
Quel suivi pour les traitements innovants ?
- Published in:
- Médecine Sciences, 2019, v. 35, p. 54, doi. 10.1051/medsci/2019053
- By:
- Publication type:
- Article
Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires: Actions de la sous-commission Génétique Moléculaire de Filnemus.
- Published in:
- Médecine Sciences, 2018, v. 34, p. 20, doi. 10.1051/medsci/201834s206
- By:
- Publication type:
- Article
Vers une homogénéisation nationale des analyses par NGS dans la démarche diagnostique pour les myopathies.
- Published in:
- Médecine Sciences, 2017, v. 33, p. 30, doi. 10.1051/medsci/201733s106
- By:
- Publication type:
- Article
Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions.
- Published in:
- Muscle & Nerve, 2024, v. 70, n. 5, p. 1046, doi. 10.1002/mus.28257
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- Publication type:
- Article
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo- Humeral Dystrophy: a case report.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0328-9
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- Publication type:
- Article
Muscle Quantitative MR Imaging and Clustering Analysis in Patients with Facioscapulohumeral Muscular Dystrophy Type 1.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132717
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- Publication type:
- Article
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data.
- Published in:
- European Heart Journal, 2021, v. 42, n. 20, p. 1976, doi. 10.1093/eurheartj/ehab054
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- Publication type:
- Article
Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study.
- Published in:
- Muscle & Nerve, 2022, v. 65, n. 5, p. 531, doi. 10.1002/mus.27524
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- Publication type:
- Article
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
- Published in:
- 2017
- By:
- Publication type:
- journal article
New strategy for improving the diagnostic sensitivity of repetitive nerve stimulation in myasthenia gravis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Functional impact of vibratory proprioceptive assistance in patients with facioscapulohumeral muscular dystrophy.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Fibromyalgia-like symptoms associated with irritable bowel syndrome: A challenging diagnosis of late-onset Pompe disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 6, p. 884, doi. 10.1002/mus.24653
- By:
- Publication type:
- Article
Triple-stimulation technique improves the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 4, p. 541, doi. 10.1002/mus.24352
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- Publication type:
- Article
Response to treatment in patients with lewis-sumner syndrome.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 2, p. 179, doi. 10.1002/mus.22024
- By:
- 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
- By:
- Publication type:
- Article
Nailfold videocapillaroscopy alterations in dermatomyositis, antisynthetase syndrome, overlap myositis, and immune-mediated necrotizing myopathy.
- Published in:
- Clinical Rheumatology, 2019, v. 38, n. 12, p. 3451, doi. 10.1007/s10067-019-04710-2
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- Publication type:
- Article
Autosomal Recessive Cerebellar Ataxia Type 3 Due to AN010 Mutations.
- Published in:
- JAMA Neurology, 2014, v. 71, n. 10, p. 1305, doi. 10.1001/jamaneurol.2014.193
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- Publication type:
- Article
Exploring necrotizing autoimmune myopathies with a novel immunoassay for anti-3-hydroxy-3-methyl-glutaryl-CoA reductase autoantibodies.
- Published in:
- Arthritis Research & Therapy, 2014, v. 16, n. 1, p. 1, doi. 10.1186/ar4468
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- Publication type:
- Article
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Post-hoc Nonparametric Analysis of Forced Vital Capacity in the COMET Trial Demonstrates Superiority of Avalglucosidase Alfa vs Alglucosidase Alfa.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 369, doi. 10.3233/JND-230175
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- Publication type:
- Article
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 5, p. 379, doi. 10.1111/cge.14198
- By:
- Publication type:
- Article
Real-world data of in-hospital administration of alglucosidase alfa in French patients with Pompe disease: results from the National Claims Database.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 9, p. 5846, doi. 10.1007/s00415-024-12543-6
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- Publication type:
- Article
French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).
- Published in:
- Journal of Neurology, 2024, v. 271, n. 9, p. 5778, doi. 10.1007/s00415-024-12538-3
- By:
- Publication type:
- Article
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 7, p. 4008, doi. 10.1007/s00415-024-12298-0
- By:
- Publication type:
- Article
Face to Face: deciphering facial involvement in inclusion body myositis.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 1, p. 410, doi. 10.1007/s00415-023-11986-7
- By:
- 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
- By:
- Publication type:
- Article
Late‐onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 937, doi. 10.1007/s10545-018-0243-7
- By:
- Publication type:
- Article
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 937, doi. 10.1007/s10545-018-0243-7
- By:
- Publication type:
- Article
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 20, p. 4206, doi. 10.1093/hmg/ddt272
- By:
- Publication type:
- Article
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.613446
- By:
- 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
- By:
- Publication type:
- Article
Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16292
- By:
- Publication type:
- Article
Refocusing generalized myasthenia gravis: Patient burden, disease profiles, and the role of evolving therapy.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 6, p. 1, doi. 10.1111/ene.16180
- By:
- Publication type:
- Article
Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 10, p. 3265, doi. 10.1111/ene.15937
- By:
- 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
- By:
- Publication type:
- Article
Deep phenotyping of an international series of patients with late‐onset dysferlinopathy.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 6, p. 2092, doi. 10.1111/ene.14821
- By:
- Publication type:
- Article