Maud Beuvin

Maud Beuvin

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Maud Beuvin

Maud Beuvin

Publications by authors named "Maud Beuvin"

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Novel role of Tieg1 in muscle metabolism and mitochondrial oxidative capacities.

Acta Physiol (Oxf) 2019 Sep 27:e13394. Epub 2019 Sep 27.

Biomechanics and Bioengineering Laboratory, Alliance Sorbonne Universités, Université de Technologie de Compiègne, UMR CNRS 7338, Compiègne, France.

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http://dx.doi.org/10.1111/apha.13394DOI Listing
September 2019

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in .

Neurol Genet 2019 Apr 1;5(2):e321. Epub 2019 Apr 1.

Neurogenetics Group (W.D.R., P.D.J., J.B.), University of Antwerp; the Laboratory of Neuromuscular Pathology (W.D.R., P.D.J., J.B.), Institute Born- Bunge, University of Antwerp; the Neuromuscular Reference Centre (W.D.R., P.D.J., J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Sorbonne Université (I.N., M.B., R.B.Y., G.B.), INSERM U974, Center of Research in Myology, Institute of Myology, G.H. Pitié-Salpêtrière Paris, France; Histology and Cellular Imaging (B.A.), Neuromics Support Facility, VIB-UAntwerp Center for Molecular Neurology, University of Antwerp; Laboratory for Neuropathology (B.D.P., J.D.B.), Division of Neurology, Ghent University Hospital, Belgium; AP-HP, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-deFrance (R.B.Y., B.E.), G.H. Pitié-Salpêtrière, Bioinformatics Unit (C.M.), Necker Hospital, AP-HP, and University Paris Descartes, ; Centre National de Recherche en Génomique Humaine (CNRGH) (A.B., J.F.D.), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry; Laboratoire de Neuropathologie (T.M.), G.H. Pitié-Salpêtrière, Paris, France; Center for Medical Genetics (S.S.), Ghent University Hospital, Belgium; Developmental Dynamics, Imperial Centre for Experimental and Translational Medicine (R.S., T.B.), Imperial College London; John Walton Muscular Dystrophy Research Centre (K.J., A.T., V.S.), MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501641PMC
April 2019

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy.

Mol Ther Nucleic Acids 2018 Mar 30;10:376-386. Epub 2017 Dec 30.

Sorbonne Université, INSERM UMRS_974, Center of Research in Myology, 75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2017.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862133PMC
March 2018

Impaired excitation-contraction coupling in muscle fibres from the dynamin2 mouse model of centronuclear myopathy.

J Physiol 2017 12 21;595(24):7369-7382. Epub 2017 Nov 21.

Univ Lyon, Université Claude Bernard Lyon 1, CNRS UMR-5310, INSERM U-1217, Institut NeuroMyoGène, Villeurbanne, France.

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http://doi.wiley.com/10.1113/JP274990
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http://dx.doi.org/10.1113/JP274990DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5730838PMC
December 2017

Clinical heterogeneity and phenotype/genotype findings in 5 families with deficiency.

Neurol Genet 2017 Dec 18;3(6):e208. Epub 2017 Dec 18.

Assistance Publique-Hôpitaux de Paris (APHP) (R.B.Y., B.E., P.L.), Groupe Hospitalier Universitaire la Pitié-Salpêtrière, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie; Sorbonne Universités (R.B.Y., I.N., M.B., G.B.), UPMC Université Paris 06, INSERM UMRS 974, Center of Research in Myology, Institut de Myologie, Paris; Department of Molecular Genetics (A.H., F.P., F.M.P.), Assistance Publique-Hôpitaux de Paris (APHP), Hôpitaux Universitaires Paris Sud, Antoine Béclère Hospital, Clamart; Department of Pediatrics (A.H., P.L.), Assistance Publique-Hôpitaux de Paris (APHP), Hôpitaux Universitaires Paris Sud, Antoine Béclère Hospital, Referal Center for Metabolic Liver Inherited Diseases, Clamart, and Université Paris-Sud, France; Department of Neurology (J.R.D., T.K., J.V.), Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen; Department of Neurology (D.G.), Odense University Hospital, Denmark; Hospices Civils de Lyon (N.S.), Groupement Hospitalier Est, Centre de Pathologie et Neuropathologie Est, Service de Neuropathologie, Université Claude-Bernard Lyon 1, CNRS UMR5239, LBMC, ENS; AP-HM, Département de Génétique Médicale (M.K., M.C., M.B.), Hôpital Timone Enfants; Aix Marseille Université (M.K., M.C., M.B.), Inserm, GMGF, UMR_S910; Hospices Civils de Lyon (P.P.), Hôpital la Croix-Rousse, Département de Neurologie, Université Claude Bernard Lyon 1; CHU Besançon (F.M.), Hôpital Jean Minjoz, Centre de Référence de Pathologie Neuromusculaire; Unité de morphologie neuromusculaire (E.M., N.R.), Groupe Hospitalier Universitaire La Pitié-Salpêtrière; Sorbonne Universités UPMC Université Paris 06; Assistance Publique-Hôpitaux de Paris (APHP) (R.Y.C.), Service d'imagerie Médicale, CIC-IT Handicap, Hôpital Raymond Poincaré, Garches, France; and Department of Clinical Genetics (M.D.), Rigshospitalet, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1212/NXG.0000000000000208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735306PMC
December 2017

Diaphragmatic function is enhanced in fatty and diabetic fatty rats.

PLoS One 2017 22;12(3):e0174043. Epub 2017 Mar 22.

Sorbonne Universités UPMC Univ Paris 06, Inserm, CNRS, Centre de Recherche en Myologie (CRM), GH Pitié Salpêtrière, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0174043PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362060PMC
August 2017

FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy.

J Neuromuscul Dis 2016 11;3(4):497-510

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, F-75013 Paris, France.

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http://dx.doi.org/10.3233/JND-160169DOI Listing
November 2016

ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene.

Hum Mol Genet 2016 06 30;25(11):2220-2233. Epub 2016 Apr 30.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, Institut de Myologie, G.H. Pitié Salpêtrière, 75651 Paris Cedex 13, France Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA

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http://dx.doi.org/10.1093/hmg/ddw090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081054PMC
June 2016

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.

Neurology 2015 Dec 18;85(24):2126-35. Epub 2015 Nov 18.

From INSERM (R.D.C., C.R., K.C., I.R.), U951; Généthon (R.D.C., C.R., K.C., I.R.), R&D Department, INTEGRARE Research Unit, Evry; Neuromuscular Morphology Unit, Myology Institute (N.B.R., M.B.), and INSERM UMRS_974, CNRS FRE 3617, Center of Research in Myology (R.B.Y., F.L., N.B.R., E.M., M.B., I.N., G.B.), Sorbonne Universités, UPMC Univ Paris 06, and AP-HP, University Hospital, Reference Center for Neuromuscular Diseases, Myology Institute (R.B.Y., N.B.R., E.M., B.E.), Groupe Hospitalier La Pitié-Salpêtrière, Paris; Génopole Campus 2 (S.B., A.C.), PartnerChip, Evry; the Department of Medical Genetics (F.L., A.V., B.U.), Folkhälsan Institute of Genetics, University of Helsinki, Finland; AP-HP (J.N.), Groupe Hospitalier Cochin-Broca-Hôtel Dieu, Laboratoire de Biochimie et Génétique Moléculaire, Paris; CEA-IG-Centre National de Genotypage (L.B.A., C.C., R.O.), Evry; Neuromuscular Research Center (B.U.), Tampere University Hospital and University of Tampere, Finland; and the Department of Neurology (B.U.), Vaasa Central Hospital, Finland. R.D.C. is currently affiliated with Disease Genomics Group, Institut de Medicina Predictiva i Personalitzada del Càncer, Campus de Can Ruti, Camí de les Escoles, Badalona (Barcelona), Spain.

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http://dx.doi.org/10.1212/WNL.0000000000002200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691685PMC
December 2015

Dystrophin quantification: Biological and translational research implications.

Neurology 2014 Nov 29;83(22):2062-9. Epub 2014 Oct 29.

From The Dubowitz Neuromuscular Centre (K.A., V.A.-G., S.T., L.F., N.J., C.A.S., J.E.M., F.M.), UCL, Institute of Child Health, London, UK; The Center for Gene Therapy (L.E.T., A.V., Y.K., K.M.F.), The Research Institute at Nationwide Children's Hospital, Columbus, OH; Institut de Myologie (G.B., M.B., T.V.), UPMC UM76, INSERM U 794, CNRS UMR 7215, Paris, France; Institute of Genetic Medicine (R.B., M.H., S.L., V.S.), Newcastle University, UK; and Prosensa Therapeutics (A.L., G.C.), Leiden, the Netherlands. V.A.-G. is currently affiliated with the Neuromuscular Disorders Group, BioCruces Health Research Institute, Barakaldo, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000001025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248450PMC
November 2014

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.

Eur J Med Genet 2011 Jan-Feb;54(1):29-33. Epub 2010 Oct 1.

Institut de Myologie, Unité de Morphologie Neuromusculaire, Groupe Hospitalier-Universitaire Pitié-Salpêtrière, Paris F-75013, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.09.009DOI Listing
June 2011

Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.

Ann Neurol 2009 Jun;65(6):677-86

INSERM-Institut National de la Sante et de la Recherche Médicale, U582, Institut de Myologie, Paris, France.

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http://dx.doi.org/10.1002/ana.21644DOI Listing
June 2009

Activation of Rac1 by paxillin-Crk-DOCK180 signaling complex is antagonized by Rap1 in migrating NBT-II cells.

J Biol Chem 2004 Oct 12;279(43):44490-6. Epub 2004 Aug 12.

Unité Mixte Recherche 146, Centre National de la Recherche Scientifique, Bātiment 110, Centre Universitaire, 91405 Orsay, France.

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http://dx.doi.org/10.1074/jbc.M405144200DOI Listing
October 2004