P
P. Charles
Researcher at Pierre-and-Marie-Curie University
Publications - 12
Citations - 609
P. Charles is an academic researcher from Pierre-and-Marie-Curie University. The author has contributed to research in topics: Spinocerebellar ataxia & Ataxia. The author has an hindex of 8, co-authored 12 publications receiving 508 citations.
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Journal ArticleDOI
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
Mathieu Anheim,B. Monga,B. Monga,Marie-Céline Fleury,P. Charles,C. Barbot,Mustafa A. Salih,J. P. Delaunoy,M. Fritsch,Larissa Arning,Matthis Synofzik,Ludger Schöls,Jorge Sequeiros,Cyril Goizet,Cecilia Marelli,I. Le Ber,Jeanette Koht,Jeanette Koht,José Gazulla,J. De Bleecker,Maowia M. Mukhtar,Nathalie Drouot,Lamia Alipacha,Traki Benhassine,M. Chbicheb,A. M’zahem,Abdelmadjid Hamri,Brigitte Chabrol,Jean Pouget,R. Murphy,Mitsunori Watanabe,Paula Coutinho,Meriem Tazir,Alexandra Durr,Alexis Brice,Christine Tranchant,Michel Koenig +36 more
TL;DR: In this article, a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequencing because of suspected ataxia with oculomotor apraxia type 2 (AOA2) was compiled.
Journal ArticleDOI
Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism
P. Charles,Agnès Camuzat,Nawal Benammar,François Sellal,Alain Destée,A. M. Bonnet,Suzanne Lesage,I. Le Ber,Giovanni Stevanin,Alexandra Durr,Alexis Brice +10 more
TL;DR: Uninterrupted SCA2 repeat expansions found in families with autosomal dominant cerebellar ataxia result in somatic mosaicism and produce large hairpin RNAs, which may interact with double-stranded RNA-binding proteins.
Journal ArticleDOI
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
E Chérot,Boris Keren,Christèle Dubourg,Wilfrid Carré,Mélanie Fradin,Alinoë Lavillaureix,Alexandra Afenjar,Lydie Burglen,Sandra Whalen,P. Charles,Isabelle Marey,Solveig Heide,Aurélia Jacquette,Delphine Héron,Diane Doummar,Diana Rodriguez,T Billette de Villemeur,M.-L. Moutard,Agnès Guët,Jean Xavier,Didier Périsse,David Cohen,Florence Demurger,Chloé Quélin,Christel Depienne,Sylvie Odent,Caroline Nava,Véronique David,L. Pasquier,Cyril Mignot +29 more
TL;DR: The results suggest that the use of ME is a valuable strategy for patients with ID when WES cannot be used as a routine diagnosis tool.
Journal ArticleDOI
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
Cyril Mignot,Emmanuelle Apartis,Alexandra Durr,Charles Marques Lourenço,P. Charles,David Devos,Caroline Moreau,Pascale de Lonlay,Nathalie Drouot,Lydie Burglen,Nadine Kempf,Elsa Nourisson,Sandra Chantot-Bastaraud,Anne-Sophie Lebre,Marlène Rio,Yves Chaix,Eric Bieth,Emmanuel Roze,Isabelle Bonnet,Sandrine Canaple,Coralie Rastel,Alexis Brice,Agnès Rötig,Isabelle Desguerre,Christine Tranchant,Michel Koenig,Mathieu Anheim +26 more
TL;DR: The series reveals that the clinical spectrum of ARCA2 encompasses a range of ataxic phenotypes, and suggests undergoing the molecular analysis of ADCK3 in patients with this phenotype and in those with cerebellar atrophy and a stroke-like episode is crucial.
Journal ArticleDOI
Haploinsufficiency of Dmxl2, Encoding a Synaptic Protein, Causes Infertility Associated with a Loss of GnRH Neurons in Mouse
Brooke Tata,Lukas Huijbregts,Sandrine Jacquier,Zsolt Csaba,Emmanuelle Génin,Vincent Meyer,Sofia Leka,Joëlle Dupont,P. Charles,Didier Chevenne,Jean-Claude Carel,Juliane Leger,Nicolas de Roux +12 more
TL;DR: Human genetics shows that low levels of rabconnectin-3α cause a loss of the neurons that produce gonadotropin-releasing hormone, revealing a new mechanism for incomplete puberty and infertility.