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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
Revue : BMC neurology, 20, 1 Titre : Myotonic dystrophy type 1 accompanied with normal pressure hydrocephalus: a case report and literature review Type de document : Article Auteurs : Wang J ; Liu M ; Shang W ; Chen Z ; Peng G Editeur : England Année de publication : 02/2020 Pages : p 53 Langues : Anglais (eng) Mots-clés : adulte ; Asie ; dystrophie myotonique de type 1 ; étude de cas ; féminin ; hydrocéphalie ; maladie neuromusculaire Pubmed / DOI : Pubmed : 32050933 / DOI : 10.1186/s12883-020-01636-0
N° Profil MNM : 2020021 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32050933 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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The clinical spectrum of BICD2 mutations
Frasquet M, Camacho A, Vilchez R, et al.
European journal of neurology, 2020
Revue : European journal of neurology Titre : The clinical spectrum of BICD2 mutations Type de document : Article Auteurs : Frasquet M ; Camacho A ; Vilchez R ; Argente-Escrig H ; Millet E ; Vazquez-Costa JF ; Silla R ; Sánchez-Monteagudo A ; Vilchez JJ ; Espinos C ; Lupo V ; Sevilla T Editeur : England Année de publication : 02/2020 Langues : Anglais (eng) Mots-clés : amyotrophie spinale proximale autosomique dominante ; corrélation génotype-phénotype ; enfant ; étude de cas ; féminin ; gène BICD2 ; maladie neuromusculaire ; masculin Pubmed / DOI : Pubmed : 32056343 / DOI : 10.1111/ene.14173
N° Profil MNM : 2020021 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32056343 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Genes, 11, 2 Titre : Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures Type de document : Article Auteurs : Landires I ; Nunez-Samudio V ; Fernandez J ; Sarria C ; Villareal V ; Cordoba F ; Apraez-Ippolito G ; Martinez S ; Vidal OM ; Velez JI ; Arcos-Holzinger M ; Landires S ; Arcos-Burgos M Editeur : Switzerland Année de publication : 01/2020 Langues : Anglais (eng) Mots-clés : Amérique du Sud ; consanguinité ; corrélation génotype-phénotype ; dystrophie musculaire ; dystrophie musculaire des ceintures ; étude de cas ; famille ; féminin ; LGMDR1 ; maladie neuromusculaire ; masculin Pubmed / DOI : Pubmed : 31991774 / DOI : 10.3390/genes11020129
N° Profil MNM : 2020013 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31991774 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : JBJS case connector, 10, 1 Titre : Restoration of Global Sagittal Alignment After Surgical Correction of Cervical Hyperlordosis in a Patient with Emery-Dreifuss Muscular Dystrophy: A Case Report Type de document : Article Auteurs : Diebo BG ; Shah NV ; Messina JC ; Naziri Q ; Post NH ; Riew KD ; Paulino CB Editeur : United States Année de publication : 01/2020 Langues : Anglais (eng) Mots-clés : chirurgie ; dystrophie musculaire ; dystrophie musculaire d'Emery-Dreifuss ; étude de cas ; féminin ; jeune adulte ; lordose ; maladie neuromusculaire Pubmed / DOI : Pubmed : 31899720 / DOI : 10.2106/JBJS.CC.19.00003
N° Profil MNM : 2020011 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31899720 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Journal of Neuromuscular Diseases, 7, 2 Titre : Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants Type de document : Article Auteurs : Forrester N ; Rattihalli R ; Horvath R ; Maggi L ; Manzur A ; Fuller G ; Gutowski N ; Rankin J ; Dick D ; Buxton C ; Greenslade M ; Majumdar A Editeur : Netherlands Année de publication : 2020 Pages : p 137 Langues : Anglais (eng) Mots-clés : adulte ; CMT2D ; diagnostic génétique ; diagnostic moléculaire ; enfant ; étude de cas ; féminin ; gène GARS ; maladie de Charcot-Marie-Tooth ; maladie du système nerveux périphérique ; masculin ; séquençage de nouvelle génération Pubmed / DOI : Pubmed : 31985473 / DOI : 10.3233/JND-200472
N° Profil MNM : 2020013 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31985473 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
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7T MR neurography-ultrasound fusion for peripheral nerve imaging
Schreiber S, Schreiber F, Peter A, et al.
Muscle & Nerve, 2020
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Juvenile Dermatomyositis and Development of Malignancy: 2 Case Reports and a Literature Review
Cannon L, Dvergsten J, Stingl C
The Journal of rheumatology, 2020
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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
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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
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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
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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
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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
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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
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Thrombocytopenia in idiopathic inflammatory myopathies: a case series analysis
Giannini M, Grignaschi S, Fornaro M, et al.
Clinical and experimental rheumatology, 2019
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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