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Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease
Yuan RY, Ye ZL, Zhang XR, et al.
Annals of clinical and translational neurology, 2021, 8, 1, p 266
Revue : Annals of clinical and translational neurology, 8, 1 Titre : Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease Type de document : Article Auteurs : Yuan RY ; Ye ZL ; Zhang XR ; Xu LQ ; He J Editeur : United States Année de publication : 01/2021 Pages : p 266 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33314640 / DOI : 10.1002/acn3.51268
N° Profil MNM : 2020122 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33314640 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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RNA-targeted drugs for neuromuscular diseases
Ferlini A, Goyenvalle A, Muntoni F
Science (New York, N.Y.), 2021, 371, 6524, p 29
Revue : Science (New York, N.Y.), 371, 6524 Titre : RNA-targeted drugs for neuromuscular diseases Type de document : Article Auteurs : Ferlini A ; Goyenvalle A ; Muntoni F Editeur : United States Année de publication : 01/01/2021 Pages : p 29 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33384365 / DOI : 10.1126/science.aba4515
N° Profil MNM : 2020123 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33384365 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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COL6A1 related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenital muscular dystrophy
Brands J, Steffen F, Spennes J, et al.
Muscle & Nerve, 2020
Revue : Muscle & Nerve Titre : COL6A1 related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenital muscular dystrophy Type de document : Article Auteurs : Brands J ; Steffen F ; Spennes J ; Leeb T ; Bilzer T Editeur : United States Année de publication : 31/12/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33382107 / DOI : 10.1002/mus.27162
N° Profil MNM : 2020123 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33382107 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis
Dolci C, Sansone VA, Gibelli D, et al.
American journal of medical genetics. Part A, 2020
Revue : American journal of medical genetics. Part A Titre : Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis Type de document : Article Auteurs : Dolci C ; Sansone VA ; Gibelli D ; Cappella A ; Sforza C Editeur : United States Année de publication : 24/12/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33369085 / DOI : 10.1002/ajmg.a.62040
N° Profil MNM : 2020123 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33369085 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Annoussamy M, Seferian AM, Daron A, et al.
Annals of clinical and translational neurology, 2020
Revue : Annals of clinical and translational neurology Titre : Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study Type de document : Article Auteurs : Annoussamy M ; Seferian AM ; Daron A ; Pereon Y ; Cances C ; Vuillerot C ; De Waele L ; Laugel V ; Schara U ; Gidaro T ; Lilien C ; Hogrel JY ; Carlier P ; Fournier E ; Lowes L ; Gorni K ; Ly-Le Moal M ; Hellbach N ; Seabrook T ; Czech C ; Hermosilla R ; Servais L Editeur : United States Année de publication : 24/12/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33369268 / DOI : 10.1002/acn3.51281
N° Profil MNM : 2020123 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33369268 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects
Berling É, Laforêt P, Wahbi K, et al.
Journal of inherited metabolic disease, 2020
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Myositis-specific and myositis-associated autoantibodies in a large Indian cohort of inflammatory myositis
Gupta L, Naveen R, Gaur P, et al.
Seminars in arthritis and rheumatism, 2020, 51, 1, p 113
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Pre-clinical Systemic Delivery of Adeno-Associated Alpha-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy
Griffin DA, Pozsgai ER, Heller KN, et al.
Human gene therapy, 2020
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Systemic cell therapy for muscular dystrophies : The ultimate transplantable muscle progenitor cell and current challenges for clinical efficacy
Ausems CRM, van Engelen BGM, van Bokhoven H, et al.
Stem cell reviews and reports, 2020
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12-Month progression of motor and functional outcomes in congenital myotonic dystrophy
Quigg KH, Berggren KN, McIntyre M, et al.
Muscle & Nerve, 2020
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Human myotube formation is determined by MyoD-Myomixer/Myomaker axis
Zhang H, Wen J, Bigot A, et al.
Science advances, 2020, 6, 51
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Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding
Sidorina A, Catesini G, Levi Mortera S, et al.
Journal of inherited metabolic disease, 2020
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Exosome-mediated improvement in membrane integrity and muscle function in dystrophic mice
Leng L, Dong X, Gao X, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2020
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From diagnosis to prognosis: Revisiting the meaning of muscle ISG15 overexpression in juvenile inflammatory myopathies
Hou C, Durrleman C, Periou B, et al.
Arthritis & rheumatology (Hoboken, N.J.), 2020
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Systematic review of CMTX1 patients with episodic neurological dysfunction
Tian D, Zhao Y, Zhu R, et al.
Annals of clinical and translational neurology, 2020
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Current Clinical Applications of In Vivo Gene Therapy with AAVs
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2020
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CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum
Freed AS, Schwarz AC, Brei BK, et al.
American journal of medical genetics. Part A, 2020
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Costameric Integrin and Sarcoglycan protein levels are altered in a Drosophila model for Limb Girdle Muscular Dystrophy type 2H
Bawa S, Gameros S, Baumann K, et al.
Molecular biology of the cell, 2020
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Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease
Thomas DC, Sharma S, Puri RD, et al.
Clinical biochemistry, 2020
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Safety, feasibility, and efficacy of strengthening exercise in Duchenne muscular dystrophy
Lott DJ, Taivassalo T, Cooke KD, et al.
Muscle & Nerve, 2020
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Health and economic outcomes of newborn screening for infantile-onset Pompe disease
Richardson JS, Kemper AR, Grosse SD, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
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Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease
Gonzalez-Quereda L, Pagola I, Fuentes Prior P, et al.
Annals of clinical and translational neurology, 2020
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Pathological features of anti-Mi-2 dermatomyositis
Tanboon J, Inoue M, Hirakawa S, et al.
Neurology, 2020
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Study of Tofacitinib In Refractory Dermatomyositis (STIR): An open label pilot study of 10 patients
Paik JJ, Casciola-Rosen L, Shin JY, et al.
Arthritis & rheumatology (Hoboken, N.J.), 2020
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Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines
Barcelos I, Shadiack E, Ganetzky RD, et al.
Current opinion in pediatrics, 2020, 32, 6, p 707
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