Annabelle Chaussenot

Annabelle Chaussenot

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Annabelle Chaussenot

Annabelle Chaussenot

Publications by authors named "Annabelle Chaussenot"

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33Publications

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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 Aug 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults.

J Neurol 2019 Aug 21;266(8):2043-2050. Epub 2019 May 21.

Neurology Department, Reference Center for Lysosomal Diseases, Neurogenetics and Metabolism Unit, Hôpital Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, 75013, Paris, France.

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http://dx.doi.org/10.1007/s00415-019-09377-yDOI Listing
August 2019

NDUFS6 related Leigh syndrome: a case report and review of the literature.

J Hum Genet 2019 Jul 4;64(7):637-645. Epub 2019 Apr 4.

Université Côte d'Azur, Inserm, CNRS, IRCAN, CHU de Nice, Nice, France.

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http://dx.doi.org/10.1038/s10038-019-0594-4DOI Listing
July 2019

Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.

Muscle Nerve 2017 06 26;55(6):919-922. Epub 2017 Mar 26.

Nice Sophia Antipolis University, Institute for Research on Cancer and Aging (IRCAN), CNRS, INSERM, UMR 7284 and U1081, School of Medicine, 28 avenue de Valombrose, 06107, Nice cedex 2, France.

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http://dx.doi.org/10.1002/mus.25262DOI Listing
June 2017

A new mutation in the mitochondrial tRNA gene associated with early-onset neuromuscular phenotype and ragged-red fibers.

Neuromuscul Disord 2016 Dec 16;26(12):885-889. Epub 2016 Sep 16.

Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France; Nice Sophia-Antipolis University, IRCAN, CNRS, INSERM, UMR 7284 & U1081, 06107 Nice, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.09.012DOI Listing
December 2016

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.

Biol Res 2016 Jan 8;49. Epub 2016 Jan 8.

School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, 28 av de Valombrose, 06107, Nice Cedex 2, France.

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http://dx.doi.org/10.1186/s40659-015-0065-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4705639PMC
January 2016

CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy.

Ann Neurol 2015 Nov 31;78(5):831. Epub 2015 Aug 31.

Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.

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http://dx.doi.org/10.1002/ana.24464DOI Listing
November 2015

Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322-324.

J Neurol Sci 2015 Apr 20;351(1-2):196-197. Epub 2015 Feb 20.

IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X150009
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http://dx.doi.org/10.1016/j.jns.2015.02.025DOI Listing
April 2015

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.

Neurobiol Aging 2014 Dec 24;35(12):2884.e1-2884.e4. Epub 2014 Jul 24.

IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.07.022DOI 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

Neurologic features and genotype-phenotype correlation in Wolfram syndrome.

Ann Neurol 2011 Mar 28;69(3):501-8. Epub 2010 Dec 28.

Department of Medical Genetics, Archet 2 Hospital, CHU of Nice, France.

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http://dx.doi.org/10.1002/ana.22160DOI Listing
March 2011

Neurological picture. Wolfram syndrome associated with leukoencephalopathy.

J Neurol Neurosurg Psychiatry 2010 Aug;81(8):928

Department of Neurology, CHU de Nîmes. 30 029 Nîmes Cedex, France.

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http://dx.doi.org/10.1136/jnnp.2009.185579DOI Listing
August 2010