Alain Furby

Alain Furby

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Alain Furby

Alain Furby

Publications by authors named "Alain Furby"

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PNPLA2 mutation: a paediatric case with early onset but indolent course.

Neuromuscul Disord 2013 Dec 30;23(12):986-91. Epub 2013 Aug 30.

CHU Saint-Étienne, Hôpital Bellevue, Department of Paediatric Physical Medicine and Rehabilitation, Rhône-Alpes Reference Centre for Neuromuscular Diseases, Saint-Étienne F-42055, France.

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http://dx.doi.org/10.1016/j.nmd.2013.08.008DOI Listing
December 2013

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Rural environment and risk factors of amyotrophic lateral sclerosis: a case-control study.

J Neurol 2010 May 11;257(5):792-8. Epub 2009 Dec 11.

Unité de Neurophysiologie Clinique, Hôpital Yves Le Foll, 22027, Saint-Brieuc, France.

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http://dx.doi.org/10.1007/s00415-009-5419-5DOI Listing
May 2010

Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.

Neuromuscul Disord 2006 Jan 20;16(1):14-8. Epub 2005 Dec 20.

Unité de Neurophysiologie Clinique, Hôpital Yves Le Foll, 22023 Saint-Brieuc, France.

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http://dx.doi.org/10.1016/j.nmd.2005.09.008DOI Listing
January 2006

In vivo and in vitro functional characterization of Andersen's syndrome mutations.

J Physiol 2005 Jun 14;565(Pt 3):731-41. Epub 2005 Apr 14.

Université de Nice Sophia Antipolis, UMR 6097 CNRS, Institut de Pharmacologie Moléculaire et Cellulaire, 660 Route des Lucioles, Sophia-Antipolis, 06560 Valbonne, France.

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http://dx.doi.org/10.1113/jphysiol.2004.081620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1464553PMC
June 2005

New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus.

Eur Neurol 2004 5;52(1):58-61. Epub 2004 Jul 5.

Explorations Fonctionnelles Neurologiques, Hôpital Y. Le Foll, Saint-Brieuc, France.

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http://dx.doi.org/10.1159/000079546DOI Listing
September 2004