Nicolas Dondaine

Nicolas Dondaine

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Nicolas Dondaine

Nicolas Dondaine

Publications by authors named "Nicolas Dondaine"

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Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

J Neuromuscul Dis 2017;4(4):349-355

Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.3233/JND-170238DOI Listing
July 2019

HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

Acta Neuropathol 2017 07 13;134(1):163-165. Epub 2017 May 13.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France.

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http://dx.doi.org/10.1007/s00401-017-1724-8DOI Listing
July 2017

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Brain 2014 Dec 25;137(Pt 12):3160-70. Epub 2014 Sep 25.

1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France

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http://brain.oxfordjournals.org/content/brain/137/12/3160.fu
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu272DOI Listing
December 2014

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

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

Neuromuscul Disord 2007 Dec 6;17(11-12):955-9. Epub 2007 Sep 6.

Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP426, 67091 Strasbourg, France.

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http://dx.doi.org/10.1016/j.nmd.2007.06.467DOI Listing
December 2007

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

Hum Mol Genet 2006 Nov 28;15(21):3098-106. Epub 2006 Sep 28.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Molecular Pathology, Strasbourg, France.

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http://dx.doi.org/10.1093/hmg/ddl250DOI Listing
November 2006