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Auteur Laporte J
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Jocelyn Laporte
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Documents disponibles écrits par cet auteur



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rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy
Ross JA, Tasfaout H, Levy Y, et al.
Acta neuropathologica communications, 2020, 8, 1, p 167
Revue : Acta neuropathologica communications, 8, 1 Titre : rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy Type de document : Article Auteurs : Ross JA ; Tasfaout H ; Levy Y ; Morgan J ; Cowling BS ; Laporte J ; Zanoteli E ; Romero NB ; Lowe DA ; Jungbluth H ; Lawlor MW ; Mack DL ; Ochala J Année de publication : 19/10/2020 Pages : p 167 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33076971 / DOI : 10.1186/s40478-020-01048-8
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33076971 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Differential physiological role of BIN1 isoforms in skeletal muscle development, function and regeneration
Prokic I, Cowling BS, Kutchukian C, et al.
Disease models & mechanisms, 2020
Revue : Disease models & mechanisms Titre : Differential physiological role of BIN1 isoforms in skeletal muscle development, function and regeneration Type de document : Article Auteurs : Prokic I ; Cowling BS ; Kutchukian C ; Kretz C ; Tasfaout H ; Gache V ; Hergueux J ; Wendling O ; Ferry A ; Toussaint A ; Gavriilidis C ; Nattarayan V ; Koch C ; Lainé J ; Combe R ; Tiret L ; Jacquemond V ; Pilot-Storck F ; Laporte J Editeur : England Année de publication : 29/09/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32994313 / DOI : 10.1242/dmm.044354
N° Profil MNM : 2020101 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32994313 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Asymmetric muscle weakness due to ACTA1 mosaic mutations
Lornage X, Quijano-Roy S, Amthor H, et al.
Neurology, 2020
Revue : Neurology Titre : Asymmetric muscle weakness due to ACTA1 mosaic mutations Type de document : Article Auteurs : Lornage X ; Quijano-Roy S ; Amthor H ; Carlier RY ; Monnier N ; Deleuze JF ; Romero NB ; Laporte J ; Böhm J Editeur : United States Année de publication : 09/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32989108 / DOI : 10.1212/WNL.0000000000010947
N° Profil MNM : 2020101 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32989108 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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A new glycogen storage disease caused by a dominant PYGM mutation
Echaniz-Laguna A, Lornage X, Laforêt P, et al.
Annals of neurology, 2020
Revue : Annals of neurology Titre : A new glycogen storage disease caused by a dominant PYGM mutation Type de document : Article Auteurs : Echaniz-Laguna A, Auteur ; Lornage X ; Laforêt P ; Orngreen MC ; Edelweiss E ; Brochier G ; Bui MT ; Silva-Rojas R ; Birck C ; Lannes B ; Romero NB ; Vissing J ; Laporte J ; Böhm J Editeur : United States Année de publication : 05/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32386344 / DOI : 10.1002/ana.25771
N° Profil MNM : 2020051 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32386344 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
Koch C, Buono S, Menuet A, et al.
Molecular therapy. Methods & clinical development, 2020, 17, p 1178
Revue : Molecular therapy. Methods & clinical development, 17 Titre : Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients Type de document : Article Auteurs : Koch C ; Buono S ; Menuet A ; Robe A ; Djeddi S ; Kretz C ; Gomez-Oca R ; Depla M ; Monseur A ; Thielemans L ; Servais L ; Laporte J ; Cowling BS Année de publication : 05/2020 Pages : p 1178 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32514412 / DOI : 10.1016/j.omtm.2020.04.022
N° Profil MNM : 2020061 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32514412 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin
Munoz XM, Kretz C, Silva-Rojas R, et al.
JCI insight, 2020, 5, 18
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A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers
Evangelista T, Lornage X, Carlier PG, et al.
Journal of neuropathology and experimental neurology, 2020, 79, 8, p 908
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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
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16es JSFM : Prix communication orale 2018 - La myopathie liée à PYROXD1 : Caractérisation clinique, histologique, et génétique : 2018 SFM Master Prize: PYROXD1-related myopathy
Lornage X, Romero NB, Laporte J, et al.
Les Cahiers de Myologie, 2019, 35, HS2, p 43
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Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy
Munoz XM, Buono S, Koebel P, et al.
Human molecular genetics, 2019
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Clinical, histological, and genetic characterization of PYROXD1-related myopathy
Lornage X, Schartner V, Balbueno I, et al.
Acta neuropathologica communications, 2019, 7, 1, p 138
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214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015
Donkervoort S, Dowling JJ, Laporte J, et al.
Neuromuscular disorders : NMD, 2019, p 644
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HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes.
Berardo A, Lornage X, Johari M, et al.
Journal of neurology, 2019
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Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice
Lionello VM, Nicot AS, Sartori M, et al.
Science translational medicine, 2019, 11, 484
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'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
Garibaldi M, Garibaldi M, Rendu J, et al.
Acta neuropathologica communications, 2019, 7, 1
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ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)
Lornage X, Romero NB, Grosgogeat CA, et al.
Acta neuropathologica, 2019, 137, 3, p 501
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Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes
Rabai A, Reisser L, Reina-San-Martin B, et al.
Molecular therapy. Nucleic acids, 2019, 16, p 246
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Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome
Böhm J, Laporte J
Cell calcium, 2018, p 1
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Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
Biancalana V, Romero NB, Thuestad IJ, et al.
Acta neuropathologica communications, 2018, 6, 1
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Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
Dabaj I, Carlier RY, Gómez-Andrés D, et al.
Muscle & Nerve, 2018
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Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice
Tasfaout H, Lionello VM, Kretz C, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2018
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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy
Böhm J, Lornage X, Chevessier F, et al.
Acta neuropathologica, 2018, 135, 1, p 149
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Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei
Lornage X, Sabouraud P, Lannes B, et al.
Journal of Neuromuscular Diseases, 2018, 5, 2, p 257
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Centronuclear myopathies under attack: A plethora of therapeutic targets
Tasfaout H, Cowling BS, Laporte J
Journal of Neuromuscular Diseases, 2018, 5, 4, p 387
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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
Avila-Polo R, Avila-Polo R, Malfatti E, et al.
Journal of neuropathology and experimental neurology, 2018, 77, 12, p 1101
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