Mots-clés
Mettre toutes les notices dans le panier Faire une suggestion Ajouter un critère de rechercheEtendre la recherche sur niveau(x) vers le bas
Myotonic dystrophy type 1 accompanied with normal pressure hydrocephalus: a case report and literature review
Wang J, Liu M, Shang W, et al.
BMC neurology, 2020, 20, 1, p 53
The clinical spectrum of BICD2 mutations
Frasquet M, Camacho A, Vilchez R, et al.
European journal of neurology, 2020
Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures
Landires I, Nunez-Samudio V, Fernandez J, et al.
Genes, 2020, 11, 2
Restoration of Global Sagittal Alignment After Surgical Correction of Cervical Hyperlordosis in a Patient with Emery-Dreifuss Muscular Dystrophy: A Case Report
Diebo BG, Shah NV, Messina JC, et al.
JBJS case connector, 2020, 10, 1
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants
Forrester N, Rattihalli R, Horvath R, et al.
Journal of Neuromuscular Diseases, 2020, 7, 2, p 137
Bilateral scapulothoracic arthrodesis for facioscapulohumeral muscular dystrophy: function, fusion, and respiratory consequences
Boileau P, Pison A, Wilson A, et al.
Journal of shoulder and elbow surgery, 2020
7T MR neurography-ultrasound fusion for peripheral nerve imaging
Schreiber S, Schreiber F, Peter A, et al.
Muscle & Nerve, 2020
Juvenile Dermatomyositis and Development of Malignancy: 2 Case Reports and a Literature Review
Cannon L, Dvergsten J, Stingl C
The Journal of rheumatology, 2020
The aerobic capacity in patients with antisynthetase syndrome and dermatomyositis
Dos Santos AM, Misse RG, Borges IBP, et al.
Advances in rheumatology (London, England), 2019, 60, 1, p 3
Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report
Jiang J, Huang J, Gu J, et al.
BMC Medical Genetics, 2019, 20, 1, p 204
Statin-induced anti-HMGCR antibody-related immune-mediated necrotising myositis achieving complete remission with rituximab
Zhang W, Prince HM, Reardon K
BMJ case reports, 2019, 12, 11
Intrathecal nusinersen treatment after ventriculo-peritoneal shunt placement: A case report focusing on the neurofilament light chain in cerebrospinal fluid
Tozawa T, Kasai T, Tatebe H, et al.
Brain & development, 2019
Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency
Dernoncourt A, Bouchereau J, Acquaviva-Bourdain C, et al.
Case reports in critical care, 2019
Treatment of calcinosis associated with adult and juvenile dermatomyositis using topical sodium thiosulfate via fractionated CO2 laser treatment
Eleryan MG, Awosika O, Akhiyat S, et al.
Clinical and experimental rheumatology, 2019, 37, 6, p 1092
Thrombocytopenia in idiopathic inflammatory myopathies: a case series analysis
Giannini M, Grignaschi S, Fornaro M, et al.
Clinical and experimental rheumatology, 2019
Tofacitinib for the Treatment of Refractory Polymyositis
Babaoglu H, Varan O, Atas N, et al.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases, 2019, 25, 8
BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease
Fu J, Ma M, Song J, et al.
Journal of neurology, 2019
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure
Rodríguez Cruz PM, Cossins J, Cheung J, et al.
Human mutation, 2019
Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case-control study
Spaziani M, Semeraro A, Bucci E, et al.
Journal of endocrinological investigation, 2019
Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy
Villar-Quiles RN, De la Banda MGG, Barois A, et al.
Journal of Neuromuscular Diseases, 2019
Overground exoskeletons may boost neuroplasticity in myotonic dystrophy type 1 rehabilitation: A case report
Portaro S, Naro A, Leo A, et al.
Medicine (Baltimore), 2019, 98, 46
Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases
Moreno CAM, Estephan EP, Fappi A, et al.
Neuromuscular disorders : NMD, 2019
Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients
Chan SH, Ho RS, Khong PL, et al.
Neuromuscular disorders : NMD, 2019
A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects
D'Arrigo S, Tessarollo V, Taroni F, et al.
Neuropediatrics, 2019
Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants
Gonzalez-del Angel A, Bisciglia M, Vargas-Canas S, et al.
Frontiers in neurology, 2019, 10, 1049
