Véronique Paquis-Flucklinger

Véronique Paquis-Flucklinger

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Véronique Paquis-Flucklinger

Véronique Paquis-Flucklinger

Publications by authors named "Véronique Paquis-Flucklinger"

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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

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

Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice.

Mitochondrion 2016 09 24;30:126-37. Epub 2016 Feb 24.

IRCAN, CNRS UMR 7284/INSERM U1081/UNS, Faculté de Médecine, Nice, France; Service de Génétique Médicale, Hôpital Archet 2, CHU de Nice, Nice, France. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454384PMC
September 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

De novo 4q duplication/deletion in a fetus with a congenital heart defect.

Am J Med Genet A 2015 Aug 19;167A(8):1932-6. Epub 2015 Jun 19.

Service de Génétique Médicale, Hôpital de l'Archet II, St Antoine de Ginestière, France.

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http://dx.doi.org/10.1002/ajmg.a.37005DOI Listing
August 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

A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness.

Diabetes Care 2011 Dec 12;34(12):2591-3. Epub 2011 Oct 12.

Department of Medical Genetics, Archet 2 Hospital, Centre Hospitalier Universitaire de Nice, Nice, France.

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http://dx.doi.org/10.2337/dc11-1012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3220838PMC
December 2011

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

hMSH5 is a nucleocytoplasmic shuttling protein whose stability depends on its subcellular localization.

Nucleic Acids Res 2010 Jun 25;38(11):3655-71. Epub 2010 Feb 25.

FRE 3086 Instabilité génétique: Maladies rares et cancers, Université de Nice Sophia-Antipolis, CNRS, Nice Cedex 2, France.

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http://dx.doi.org/10.1093/nar/gkq098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2887964PMC
June 2010

Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.

Mitochondrion 2010 Apr 11;10(3):300-8. Epub 2010 Jan 11.

Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, 35-2 Sakae-cho, Itabashi-ku, Tokyo 173-0015, Japan.

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http://dx.doi.org/10.1016/j.mito.2010.01.003DOI Listing
April 2010

CRM1-dependent nuclear export and dimerization with hMSH5 contribute to the regulation of hMSH4 subcellular localization.

Exp Cell Res 2007 Oct 21;313(17):3680-93. Epub 2007 Aug 21.

Equipe M3R, UMR 6543, Université de Nice Sophia-Antipolis, CNRS, Faculté de Médecine, Avenue de Valombrose 06107, Nice Cedex 2, France.

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http://dx.doi.org/10.1016/j.yexcr.2007.08.010DOI Listing
October 2007

Microvascular diabetes complications in Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD]): an age- and duration-matched comparison with common type 1 diabetes.

Diabetes Care 2007 Sep 29;30(9):2327-30. Epub 2007 May 29.

Department of Nutrition, Metabolic Diseases and Endocrinology, University of Méditerranée, La Timone Hospital, Marseille, France.

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http://dx.doi.org/10.2337/dc07-0380DOI Listing
September 2007

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

Nat Genet 2007 Jun 7;39(6):776-80. Epub 2007 May 7.

Institut national de la santé et de la recherche médicale U781 and Service de Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

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http://www.nature.com/articles/ng2040
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http://dx.doi.org/10.1038/ng2040DOI Listing
June 2007

Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.

Mol Diagn Ther 2006 ;10(6):381-9

Center for Molecular and Mitochondrial Medicine and Genetics, Department of Pediatrics, University of California, Irvine, California 92697, USA.

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http://dx.doi.org/10.1007/BF03256215DOI Listing
February 2007

[Homologs of MutS and MutL during mammalian meiosis].

Med Sci (Paris) 2003 Jan;19(1):85-91

Equipe M3R, LRC CEA no. 32-V, UMR Cnrs UNSA 6549, Faculté de Médecine, avenue de Valombrose, 06107 Nice, France.

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http://dx.doi.org/10.1051/medsci/200319185DOI Listing
January 2003