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Auteur Beggs AH |
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Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials
Silwal A, Sarkozy A, Scoto M, et al.
Annals of clinical and translational neurology, 2020
Revue : Annals of clinical and translational neurology Titre : Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials Type de document : Article Auteurs : Silwal A ; Sarkozy A ; Scoto M ; Ridout D ; Schmidt A ; Laverty A ; Henriques M ; D'Argenzio L ; Main M ; Mein R ; Manzur AY ; Abel F ; Al-Ghamdi F ; Genetti CA ; Ardicli D ; Haliloglu G ; Topaloglu H ; Beggs AH ; Muntoni F Editeur : United States Année de publication : 10/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33037864 / DOI : 10.1002/acn3.51218
N° Profil MNM : 2020101 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33037864 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians
Pellerin D, Aykanat A, Ellezam B, et al.
Annals of neurology, 2020
Revue : Annals of neurology Titre : Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians Type de document : Article Auteurs : Pellerin D ; Aykanat A ; Ellezam B ; Troiano EC ; Karamchandani J ; Dicaire MJ ; Petitclerc M ; Robertson R ; Allard-Chamard X ; Brunet D ; Konersman CG ; Mathieu J ; Warman Chardon J ; Gupta VA ; Beggs AH ; Brais B ; Chrestian N Editeur : United States Année de publication : 01/2020 Langues : Anglais (eng) Mots-clés : adulte ; Canada ; corrélation génotype-phénotype ; enfant ; étude de cas ; gène TNNT1 ; maladie neuromusculaire ; myopathie à bâtonnets ; myopathie congénitale Pubmed / DOI : Pubmed : 31970803 / DOI : 10.1002/ana.25685
N° Profil MNM : 2020013 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31970803 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
Villar-Quiles RN, Catervi F, Cabet E, et al.
Annals of neurology, 2019
Revue : Annals of neurology Titre : ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy Type de document : Article Auteurs : Villar-Quiles RN ; Catervi F ; Cabet E ; Juntas-Morales R ; Genetti CA ; Gidaro T ; Koparir A ; Yuksel A ; Coppens S ; Deconinck N ; Pierce-Hoffman E ; Lornage X ; Durigneux J ; Laporte J ; Rendu J ; Romero NB ; Beggs AH ; Servais L ; Cossée M ; Olivé M ; Böhm J ; Duband-Goulet I ; Ferreiro A Editeur : United States Année de publication : 12/2019 Langues : Anglais (eng) Mots-clés : complexe ASC-1 ; corrélation génotype-phénotype ; étude rétrospective ; gène TRIP4 ; maladie neuromusculaire ; physiopathologie Pubmed / DOI : Pubmed : 31794073 / DOI : 10.1002/ana.25660
N° Profil MNM : 2019121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31794073 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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KBTBD13 is an actin-binding protein that modulates muscle kinetics
de Winter JM, Molenaar JP, Yuen M, et al.
The Journal of clinical investigation, 2019
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
Kim J, Hu C, Moufawad El Achkar C, et al.
The New England journal of medicine, 2019
Revue : The New England journal of medicine Titre : Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease Type de document : Article Auteurs : Kim J, Auteur ; Hu C ; Moufawad El Achkar C ; Black LE ; Douville J ; Larson A ; Pendergast MK ; Goldkind SF ; Lee EA ; Kuniholm A ; Soucy A ; Vaze J ; Belur NR ; Fredriksen K ; Stojkovska I ; Tsytsykova A ; Armant M ; DiDonato RL ; Choi J ; Cornelissen L ; Pereira LM ; Augustine EF ; Genetti CA ; Dies K ; Barton B ; Williams L ; Goodlett BD ; Riley BL ; Pasternak A ; Berry ER ; Pflock KA ; Chu S ; Reed C ; Tyndall K ; Agrawal PB ; Beggs AH ; Grant PE ; Urion DK ; Snyder RO ; Waisbren SE ; Poduri A ; Park PJ ; Patterson A ; Biffi A ; Mazzulli JR ; Bodamer O ; Berde CB ; Yu TW Editeur : United States Année de publication : 10/2019 Langues : Anglais (eng) Mots-clés : céroïde-lipofuscinose ; épilepsie myoclonique ; étude de cas ; maladie neurodégénérative ; oligonucléotide antisens ; thérapie génique Pubmed / DOI : Pubmed : 31597037 / DOI : 10.1056/NEJMoa1813279
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31597037 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis
Graham RJ, Muntoni F, Hughes I, et al.
Archives of disease in childhood, 2019
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Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies
Bachmann C, Noreen F, Voermans NC, et al.
Human mutation, 2019
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Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
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Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)
Joureau B, de Winter JM, Conijn S, et al.
Annals of neurology, 2018, 83, 2, p 269
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A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study
Beggs AH, Byrne BJ, de Chastonay S, et al.
Muscle & Nerve, 2018, 57, 4, p 550
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A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop
Karakaya M, Ceyhan-Birsoy O, Beggs AH, et al.
Journal of clinical neuromuscular disease, 2017, 18, 3, p 147
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Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs
Mack DL, Poulard K, Goddard MA, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2017, 25, 4, p 839
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Long-term effects of systemic gene therapy in a canine model of myotubular myopathy
Elverman M, Goddard MA, Mack D, et al.
Muscle & Nerve, 2017, 56, 5, p 943
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A natural history study of X-linked myotubular myopathy
Amburgey K, Tsuchiya E, de Chastonay S, et al.
Neurology, 2017, 89, 13, p 1355
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Mutation-specific effects on thin filament length in thin filament myopathy
Winter JM, Joureau B, Lee EJ, et al.
Annals of neurology, 2016, 79, 6, p 959
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Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons
Lawlor MW, Beggs AH, Buj-Bello A, et al.
Journal of neuropathology and experimental neurology, 2016, 75, 2, p 102
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Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs
Childers MK, Beggs AH, Buj-Bello A
Annals of translational medicine, 2015, 3, 17, p 257
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Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family
Zukosky K, Meilleur K, Traynor BJ, et al.
JAMA Neurology, 2015, 72, 6, p 689
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Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement
Ceyhan-Birsoy O, Talim B, Swanson LC, et al.
Journal of Neuromuscular Diseases, 2015, 2, 1, p 87
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X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene
Shelton GD, Rider BE, Child G, et al.
Skeletal Muscle, 2015, 5, 1
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SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
Agrawal PB, Pierson CR, Joshi M, et al.
American journal of human genetics, 2014, 95, 2, p 218
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Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy
Smith LL, Gupta VA, Beggs AH
Human molecular genetics, 2014, 23, 13, p 3566
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Mutation update: the spectra of nebulin variants and associated myopathies
Lehtokari VL, Kiiski K, Sandaradura SA, et al.
Human mutation, 2014, 35, 12, p 1418
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Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
Marttila M, Lehtokari VL, Marston S, et al.
Human mutation, 2014, 35, 7, p 779
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Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/beta-Cardiac Myosin (MYH7) Distal Myopathy
Lamont PJ, Wallefeld W, Hilton-Jones D, et al.
Human mutation, 2014, 35, 7, p 868
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