Isabelle Pénisson-Besnier

Isabelle Pénisson-Besnier

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Isabelle Pénisson-Besnier

Isabelle Pénisson-Besnier

Publications by authors named "Isabelle Pénisson-Besnier"

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Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

J Med Genet 2014 Dec 17;51(12):824-33. Epub 2014 Oct 17.

Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, Illkirch, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102623DOI Listing
December 2014

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Neuromuscul Disord 2013 Aug 12;23(8):664-9. Epub 2013 Jun 12.

Centre de référence des Maladies Neuromusculaires, Département de Neurologie, Centre Hospitalier Universitaire d'Angers, France.

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http://dx.doi.org/10.1016/j.nmd.2013.04.009DOI Listing
August 2013

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation.

Hum Mol Genet 2012 Aug 15;21(15):3449-60. Epub 2012 May 15.

UM76-UPMC/U974-Inserm/UMR7215-CNRS, Institut de Myologie 105 Bd de l’Hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1093/hmg/dds176DOI Listing
August 2012

A myopathy-related actin mutation increases contractile function.

Acta Neuropathol 2012 May 23;123(5):739-46. Epub 2012 Feb 23.

Department of Neuroscience, Clinical Neurophysiology, Uppsala University, Sweden.

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http://dx.doi.org/10.1007/s00401-012-0962-zDOI Listing
May 2012

Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy.

FASEB J 2011 Jun 24;25(6):1903-13. Epub 2011 Feb 24.

Department of Neuroscience, Clinical Neurophysiology, Uppsala University Hospital, Entrance 85, 3rd floor, SE-751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1096/fj.10-176727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219215PMC
June 2011

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

Neuromuscul Disord 2008 Dec 22;18(12):922-8. Epub 2008 Oct 22.

Folkhälsan Institute of Genetics, Department of Medical Genetics, University of Helsinki, Haartmaninkatu 8, Pb 63, 00014 Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nmd.2008.07.010DOI Listing
December 2008

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.

Eur J Hum Genet 2007 Oct 4;15(10):1054-62. Epub 2007 Jul 4.

Department of Genetics, Rouen University Hospital and INSERM U614, Institute for Biomedical Research, University of Rouen, Rouen, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201885DOI Listing
October 2007

A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.

Neuromuscul Disord 2007 Apr 21;17(4):330-7. Epub 2007 Mar 21.

Centre de Référence Maladies Neuromusculaires de l'Enfant et de l'Adulte, Nantes-Angers, France.

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http://dx.doi.org/10.1016/j.nmd.2007.01.017DOI Listing
April 2007

Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.

Neuromuscul Disord 2007 Feb 23;17(2):180-5. Epub 2007 Jan 23.

Centre de référence Maladies Neuromusculaires rares Nantes-Angers, Centre Hospitalier Universitaire d'Angers, 4 rue Larrey, F-49033 Angers, France.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660600580
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http://dx.doi.org/10.1016/j.nmd.2006.10.008DOI Listing
February 2007

Myotilinopathy in a family with late onset myopathy.

Neuromuscul Disord 2006 Jul 21;16(7):427-31. Epub 2006 Jun 21.

Département de Neurologie, Centre Hospitalier Universitaire d'Angers, 4 rue Larrey, 49033 Angers, France.

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http://dx.doi.org/10.1016/j.nmd.2006.04.009DOI Listing
July 2006