Publications by authors named "Jamel Chelly"

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MAST1-related mega-corpus-callosum syndrome with central hypogonadism.
Natacha Sloboda, Emeline Renard, Laetitia Lambert, Céline Bonnet, Bruno Leheup, Jamel Chelly

Eur J Med Genet· November 2023

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Overlapping cortical malformations in patients with pathogenic variants in and .
Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Jamel Chelly

J Med Genet· February 2023

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Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.
Hamid Meziane, Marie-Christine Birling, Olivia Wendling, Sophie Leblanc, Aline Dubos, Jamel Chelly

Biomedicines· December 2022

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Highlighting the Dystonic Phenotype Related to GNAO1.
Thomas Wirth, Giacomo Garone, Manju A Kurian, Amélie Piton, Francisca Millan, Jamel Chelly

Mov Disord· July 2022

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Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.
Delfina M Romero, Karine Poirier, Richard Belvindrah, Imane Moutkine, Anne Houllier, Jamel Chelly

Nat Commun· May 2022

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De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia.
Thomas Wirth, Aurélie Méneret, Nathalie Drouot, Gabrielle Rudolf, Ouhaid Lagha Boukbiza, Jamel Chelly

Mov Disord· May 2022

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Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
Solveig Montaut, Nadège Diedhiou, Pauline Fahrer, Cécilia Marelli, Benoit Lhermitte, Jamel Chelly

J Neurol· September 2021

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Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
Jean-Marie Ravel, Mehdi Benkirane, Nadège Calmels, Cecilia Marelli, Fabienne Ory-Magne, Jamel Chelly

J Neurol· May 2021

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Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".
Christine Y Kim, Thomas Wirth, Cécile Hubsch, Andrea H Németh, Volkan Okur, Jamel Chelly

Ann Neurol· January 2021

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Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.
Christine Y Kim, Thomas Wirth, Cécile Hubsch, Andrea H Németh, Volkan Okur, Jamel Chelly

Ann Neurol· November 2020

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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Claire Bar, Mathieu Kuchenbuch, Giulia Barcia, Amy Schneider, Mélanie Jennesson, Jamel Chelly

Epilepsia· November 2020

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Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
Diane Doummar, Christel Dentel, Romane Lyautey, Julia Metreau, Boris Keren, Jamel Chelly

Eur J Hum Genet· October 2020

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Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.
Sébastien Cabasson, Julien Van-Gils, Frédéric Villéga, Marie-Thérèse Abi-Warde, Giulia Barcia, Jamel Chelly

Eur J Paediatr Neurol· September 2020

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Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.
Gabrielle Rudolf, Julitta de Bellescize, Anne de Saint Martin, Alexis Arzimanoglou, Maria Paola Valenti Hirsch, Jamel Chelly

Eur J Paediatr Neurol· July 2020

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Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.
Thomas Wirth, Louise Laure Mariani, Gaber Bergant, Michel Baulac, Marie-Odile Habert, Jamel Chelly

Mov Disord· May 2020

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Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.
Pauline Le Van Quyen, Nadège Calmels, Maryse Bonnière, Suzanne Chartier, Féréchté Razavi, Jamel Chelly

Am J Med Genet A· May 2020

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Increased diagnostic yield in complex dystonia through exome sequencing.
Thomas Wirth, Christine Tranchant, Nathalie Drouot, Boris Keren, Cyril Mignot, Jamel Chelly

Parkinsonism Relat Disord· May 2020

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Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy.
Kristine Lossius, Anne de Saint Martin, Sverre Myren-Svelstad, Marit Bjørnvold, Guro Minken, Jamel Chelly

Epilepsy Behav· April 2020

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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Francesca Mattioli, Gaelle Hayot, Nathalie Drouot, Bertrand Isidor, Jérémie Courraud, Jamel Chelly

Am J Hum Genet· April 2020

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Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.
Johan G Gilet, Ekaterina L Ivanova, Daria Trofimova, Gabrielle Rudolf, Hamid Meziane, Jamel Chelly

Hum Mol Genet· March 2020

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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Claire Bar, Giulia Barcia, Mélanie Jennesson, Gwenaël Le Guyader, Amy Schneider, Jamel Chelly

Hum Mutat· January 2020

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Christopher C Y Mak, Dan Doherty, Angela E Lin, Nancy Vegas, Megan T Cho, Jamel Chelly

Brain· January 2020

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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Raphael Carapito, Ekaterina L Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Jamel Chelly

Am J Hum Genet· January 2020

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Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder.
Régis Lopez, François Rivier, Jamel Chelly, Yves Dauvilliers

Ann Clin Transl Neurol· September 2019

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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Chris Balak, Marianne Benard, Elise Schaefer, Sumaiya Iqbal, Keri Ramsey, Jamel Chelly

Am J Hum Genet· September 2019

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