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Auteur Feng L |
Documents disponibles écrits par cet auteur



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A high-throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies
Scaglioni D, Ellis M, Catapano F, et al.
Acta neuropathologica communications, 2020, 8, 1, p 53
Revue : Acta neuropathologica communications, 8, 1 Titre : A high-throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies Type de document : Article Auteurs : Scaglioni D, Auteur ; Ellis M ; Catapano F ; Torelli S ; Chambers D ; Feng L ; Sewry C ; Morgan J ; Muntoni F ; Phadke R Année de publication : 04/2020 Pages : p 53 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32303261 / DOI : 10.1186/s40478-020-00918-5
N° Profil MNM : 2020042 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32303261 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy
Zhou H, Meng J, Malerba A, et al.
Journal of cachexia, sarcopenia and muscle, 2020
Revue : Journal of cachexia, sarcopenia and muscle Titre : Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy Type de document : Article Auteurs : Zhou H ; Meng J ; Malerba A ; Catapano F ; Sintusek P ; Jarmin S ; Feng L ; Lu-Nguyen N ; Sun L ; Mariot V ; Dumonceaux J ; Morgan JE ; Gissen P ; Dickson G ; Muntoni F Editeur : Germany Année de publication : 02/2020 Langues : Anglais (eng) Mots-clés : amyotrophie spinale ; amyotrophie spinale proximale liée à SMN1 ; bitherapie ; maladie du motoneurone ; maladie neuromusculaire ; recherche thérapeutique ; souris Pubmed / DOI : Pubmed : 32031328 / DOI : 10.1002/jcsm.12542
N° Profil MNM : 2020021 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32031328 Voir aussi
SMA : ajout d’un anti-myostatine à un traitement agissant sur SMN
Cukierman L
2020
Comment on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al
Chen TH
Journal of cachexia, sarcopenia and muscle, 2020
The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al
Zhou H, Muntoni F
Journal of cachexia, sarcopenia and muscle, 2020
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
Sframeli M, Sarkozy A, Bertoli M, et al.
Neuromuscular disorders : NMD, 2020, 27, 9, p 793
Revue : Neuromuscular disorders : NMD, 27, 9 Titre : Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period Type de document : Article Auteurs : Sframeli M ; Sarkozy A ; Bertoli M ; Astrea G ; Hudson J ; Scoto M ; Mein R ; Yau M ; Phadke R ; Feng L ; Sewry C ; Fen ANS ; Longman C ; McCullagh G ; Straub V ; Robb S ; Manzur A ; Bushby K ; Muntoni F Editeur : England Année de publication : 2020 Pages : p 793 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 28688748 / DOI : 10.1016/j.nmd.2017.06.008
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/28688748 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
Bugiardini E, Khan AM, Phadke R, et al.
Neuromuscular disorders : NMD, 2019
Revue : Neuromuscular disorders : NMD Titre : Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre Type de document : Article Auteurs : Bugiardini E, Auteur ; Khan AM ; Phadke R ; Lynch DS ; Cortese A ; Feng L ; Gang Q ; Pittman AM ; Morrow JM ; Turner C ; Carr AS ; Quinlivan R ; Rossor AM ; Holton JL ; Parton M ; Blake JC ; Reilly MM ; Houlden H ; Matthews E ; Hanna MG Editeur : England Année de publication : 08/2019 Langues : Anglais (eng) Mots-clés : adulte ; corrélation génotype-phénotype ; diagnostic ; diagnostic génétique ; étude de cohorte ; maladie neuromusculaire ; séquençage de l'exome entier ; séquençage de nouvelle génération Pubmed / DOI : Pubmed : 31561939 / DOI : 10.1016/j.nmd.2019.08.003
N° Profil MNM : 2019093 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31561939 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
Zaharieva IT, Zaharieva IT, Sarkozy A, et al.
Human mutation, 2018, 39, 12, p 1980
Revue : Human mutation, 39, 12 Titre : STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility Type de document : Article Auteurs : Zaharieva IT, Auteur ; Zaharieva IT ; Sarkozy A ; Munot P ; Manzur A ; O'Grady G ; Rendu J ; Malfatti E ; Amthor H ; Servais L ; Urtizberea JA ; Neto OA ; Zanoteli E ; Donkervoort S ; Taylor J ; Dixon J ; Poke G ; Foley AR ; Holmes C ; Williams G ; Holder M ; Yum S ; Medne L ; Quijano-Roy S ; Romero NB ; Fauré J ; Feng L ; Bastaki L ; Davis MR ; Phadke R ; Sewry CA ; Bonnemann CG ; Jungbluth H ; Bachmann C ; Treves S ; Muntoni F Année de publication : 2018 Pages : p 1980 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1002/humu.23635 / Pubmed : 30168660
N° Profil MNM : 2018091 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/30168660 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy
Sarkozy A, Torelli S, Mein R, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 7, p 762
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Schartner V, Romero NB, Donkervoort S, et al.
Acta neuropathologica, 2017, 133, 4, p 517
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Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
Sframeli M, Sarkozy A, Bertoli M, et al.
Neuromuscular disorders : NMD, 2017, 27, 9, p 793
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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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Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations
Zhai L, Feng L, Xia L, et al.
Nature communications, 2016, 7
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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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A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients
Humphrey EL, Lacey E, Le LT, et al.
Neuromuscular disorders : NMD, 2015, 25, 1, p 32
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Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping
Anthony K, Arechavala-Gomeza V, Ricotti V, et al.
JAMA Neurology, 2014, 71, 1, p. 32-40
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Dystrophin quantification: Biological and translational research implications
Anthony K, Arechavala-Gomeza V, Taylor LE, et al.
Neurology, 2014, 83, 22, p 2062
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Mechanical-stretch of C2C12 myoblasts inhibits expression of toll-like receptor 3 (TLR3) and of autoantigens associated with inflammatory myopathies
Chen R, Feng L, Ruan M, et al.
PLoS ONE, 2013, 8, 11, e79930, 9 p.
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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan
Stevens E, Carss KJ, Cirak S, et al.
American journal of human genetics (The), 2013, 92, 3, p. 354-365
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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan
Carss KJ, Stevens E, Foley AR, et al.
UK10K Consortium
American journal of human genetics (The), 2013, 93, 1, p. 29-41
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RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling
Zhou H, Rokach O, Feng L, et al.
Human mutation, 2013, 34, 7, p 986
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DOK7 congenital myasthenic syndrome in childhood : early diagnostic clues in 23 children
Klein A, Pitt MC, McHugh JC, et al.
Neuromuscular disorders : NMD, 2013, 23, 11, p. 883-891
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Congenital myopathies - Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
Maggi L, Scoto M, Cirak S, et al.
Neuromuscular disorders : NMD, 2013, 23, 3, p. 195-205
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Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular dystrophy
Zaharieva IT, Calissano M, Scoto M, et al.
PLoS ONE, 2013, 8, 11, e80263, 15 p.
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Restoration of the dystrophine-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy
Cirak S, Feng L, Anthony K, et al.
Molecular therapy, 2012, 20,2, p. 462-467
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Flow cytometry analysis: A quantitative method for collagen VI deficiency screening
Kim J, Jimenez-Mallebrera C, Foley AR, et al.
Neuromuscular disorders : NMD, 2012, 22, 2, p. 139-148
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Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001-2008
Clement EM, Feng L, Mein R, et al.
Neuromuscular disorders : NMD, 2012, 22, 6, p. 522-527
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SEPN1-related myopathies. Clinical course in a large cohort of patients
Scoto M, Cirak S, Mein R, et al.
Neurology, 2011, 76, 24, p. 2073-2078
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