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Auteur Ravenscroft G |
Documents disponibles écrits par cet auteur



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The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME
Senderek J, Lassuthova P, Kabzinska D, et al.
Neurology, 2020
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(mauvais) 15 (excellent)
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Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
Beecroft SJ, Yau KS, Allcock RJN, et al.
Annals of clinical and translational neurology, 2020, 7, 3, p 353
Revue : Annals of clinical and translational neurology, 7, 3 Titre : Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience Type de document : Article Auteurs : Beecroft SJ, Auteur ; Yau KS ; Allcock RJN ; Mina K ; Gooding R ; Faiz F ; Atkinson VJ ; Wise C ; Sivadorai P ; Trajanoski D ; Kresoje N ; Ong R ; Duff RM ; Cabrera-Serrano M ; Nowak KJ ; Pachter N ; Ravenscroft G ; Lamont PJ ; Davis MR ; Laing NG Editeur : United States Année de publication : 03/2020 Pages : p 353 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32153140 / DOI : 10.1002/acn3.51002
N° Profil MNM : 2020031 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32153140 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
Laitila JM, McNamara EL, Wingate CD, et al.
Acta neuropathologica communications, 2020, 8, 1, p 18
Revue : Acta neuropathologica communications, 8, 1 Titre : Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb Type de document : Article Auteurs : Laitila JM, Auteur ; McNamara EL ; Wingate CD ; Goullee H ; Ross JA ; Taylor RL ; van der Pijl R ; Griffiths LM ; Harries R ; Ravenscroft G ; Clayton JS ; Sewry C ; Lawlor MW ; Ottenheijm CAC ; Bakker AJ ; Ochala J ; Laing NG ; Wallgren-Pettersson C ; Pelin K ; Nowak KJ Editeur : England Année de publication : 02/2020 Pages : p 18 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32066503 / DOI : 10.1186/s40478-020-0893-1
N° Profil MNM : 2020022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32066503 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families
Gonzalez-Mera L, Ravenscroft G, Cabrera-Serrano M, et al.
Neuropathology and applied neurobiology, 2020
Revue : Neuropathology and applied neurobiology Titre : Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families Type de document : Article Auteurs : Gonzalez-Mera L ; Ravenscroft G ; Cabrera-Serrano M ; Ermolova N ; Dominguez-Gonzalez C ; Arteche-Lopez A ; Soltanzadeh P ; Evesson F ; Navas C ; Mavillard F ; Clayton J ; Rodrigo P ; Servian-Morilla E ; Cooper ST ; Waddell L ; Reardon K ; Corbett A ; Hernandez-Lain A ; Sanchez A ; Esteban Perez J ; Paradas-Lopez C ; Rivas-Infante E ; Spencer M ; Laing N ; Olivé M Editeur : England Année de publication : 2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32896923 / DOI : 10.1111/nan.12663
N° Profil MNM : 2020091 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32896923 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease
McNamara EL, Taylor RL, Clayton JS, et al.
Human molecular genetics, 2019
Revue : Human molecular genetics Titre : Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease Type de document : Article Auteurs : McNamara EL, Auteur ; Taylor RL ; Clayton JS ; Goullee H ; Dilworth KL ; Pinos T ; Brull A ; Alexander IE ; Lisowski L ; Ravenscroft G ; Laing NG ; Nowak KJ Editeur : England Année de publication : 09/2019 Langues : Anglais (eng) Mots-clés : glycogénose musculaire ; maladie de McArdle ; maladie neuromusculaire ; myopathie métabolique héréditaire ; recherche appliquée ; thérapie génique Pubmed / DOI : Pubmed : 31511858 / DOI : 10.1093/hmg/ddz214
N° Profil MNM : 2019092 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31511858 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Recessive MYH7-related myopathy in two families
Beecroft SJ, van de Locht M, de Winter JM, et al.
Neuromuscular disorders : NMD, 2019, 29, 6, p 456
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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Olivé M, Engvall M, Ravenscroft G, et al.
Nature communications, 2019, 10, 1
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Recent advances in understanding congenital myopathies
Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, et al.
F1000Research, 2018
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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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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
Lassuthova P, Rebelo AP, Ravenscroft G, et al.
American journal of human genetics, 2018, 102, 3, p 505
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Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies
Nilipour Y, Nafissi S, Tjust AE, et al.
European journal of neurology, 2018, 25, 6, p 841
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Bi-allelic mutations in MYL1 cause a severe congenital myopathy
Ravenscroft G, Ravenscroft G, Zaharieva IT, et al.
Human molecular genetics, 2018, 27, 24, p 4263
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Genetics of neuromuscular fetal akinesia in the genomics era
Beecroft SJ, Beecroft SJ, Lombard M, et al.
Journal of medical genetics, 2018, 55, 8, p 505
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Expanding the phenotypic spectrum associated with mutations of DYNC1H1
Beecroft SJ, McLean CA, Delatycki MB, et al.
Neuromuscular disorders : NMD, 2017, 27, 7, p 607
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New era in genetics of early-onset muscle disease: Breakthroughs and challenges
Ravenscroft G, Davis MR, Lamont P, et al.
Seminars in cell & developmental biology, 2017, 64, p 160
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Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
Zaharieva IT, Thor MG, Oates EC, et al.
Brain : a journal of neurology, 2016, 139, Pt3, p 674
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CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies
Scalco RS, Gardiner AR, Pitceathly RD, et al.
Neuromuscular disorders : NMD, 2016, 26, 8, p 504
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Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus
Ravenscroft G, Laing NG, Bonnemann CG
Brain : a journal of neurology, 2015, 138, Pt 2, p 246
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Expanding the phenotype of GMPPB mutations
Cabrera-Serrano M, Ghaoui R, Ravenscroft G, et al.
Brain : a journal of neurology, 2015, 138, Pt 4, p 836
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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
Todd EJ, Yau KS, Ong R, et al.
Orphanet journal of rare diseases, 2015, 10
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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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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Yuen M, Sandaradura SA, Dowling JJ, et al.
The Journal of clinical investigation, 2014, 124, 11, p 4693
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KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
Garg A, O'Rourke J, Long C, et al.
The Journal of clinical investigation, 2014, 124, 8, p 3529
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Skeletal muscle alpha-actin diseases (actinopathies) : pathology and mechanisms
Nowak KJ, Ravenscroft G, Laing NG
Acta neuropathologica, 2013, 125, 1, p. 19-32
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Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
Ravenscroft G, Miyatake S, Lehtokari VL, et al.
American journal of human genetics (The), 2013, 93, 1, p 6
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