Publications by authors named "Jean Marc Pinard"

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Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals.
Caroline Rey, Laetitia Giorgi, Hélène Maurey, Anne-Lise Poulat, Daniel Amsallem, Jean-Marc Pinard

Eur J Paediatr Neurol· July 2025

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Jean-Marc Pinard

Genet Med· August 2019

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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Jean-Marc Pinard

Genet Med· April 2019

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Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation.
Nicole Chemaly, Emma Losito, Jean Marc Pinard, Agnès Gautier, Nathalie Villeneuve

Epileptic Disord· December 2018

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The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.
Jérémie Mortreux, Tiffany Busa, Dominique P Germain, Gwenaël Nadeau, Jacques Puechberty, Jean-Marc Pinard

Eur J Hum Genet· January 2018

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Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations.
Delphine Breuillard, Dorothée Leunen, Nicole Chemaly, Laurent Auclair, Jean Marc Pinard

Epilepsy Behav· July 2016

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Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France.
Mathilde Chipaux, William Szurhaj, Laurent Vercueil, Mathieu Milh, Nathalie Villeneuve, Jean-Marc Pinard

Epilepsia· May 2016

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Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
Laïla El Khattabi, Sylvie Jaillard, Joris Andrieux, Laurent Pasquier, Laurence Perrin, Jean-Marc Pinard

Am J Med Genet A· June 2015

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Creatine and guanidinoacetate reference values in a French population.
Marie Joncquel-Chevalier Curt, David Cheillan, Gilbert Briand, Gajja S Salomons, Karine Mention-Mulliez, Jean-Marc Pinard

Mol Genet Metab· November 2013

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Sleep architecture impairment in epileptic children and putative role of anti epileptic drugs.
Valentina M Racaru, Fawzia Cheliout-Heraut, Eric Azabou, Nouha Essid, Marc Brami, Jean-Marc Pinard

Neurol Sci· January 2013

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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
David Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, Gajja S Salomons, Karine Mention-Mulliez, Jean-Marc Pinard

Orphanet J Rare Dis· December 2012

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Sleep-disordered breathing in children with congenital muscular dystrophies.
Jean-Marc Pinard, Eric Azabou, Nouha Essid, Susana Quijano-Roy, Samir Haddad

Eur J Paediatr Neurol· November 2012

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Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Anne-Claude Tabet, Marion Pilorge, Richard Delorme, Frédérique Amsellem, Jean-Marc Pinard

Eur J Hum Genet· May 2012

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Sleep disorders in succinic semialdehyde dehydrogenase deficiency: a family report.
Valentina M Racaru, Jean-Marc Pinard, Fawzia Cheliout-Heraut

Eur J Paediatr Neurol· May 2010

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LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
Yoann Saillour, Nathalie Carion, Chloé Quelin, Pierre-Louis Leger, Nathalie Boddaert, Jean Marc Pinard

Arch Neurol· August 2009

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The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
Pierre-Louis Leger, Isabelle Souville, Nathalie Boddaert, Caroline Elie, Jean Marc Pinard

Neurogenetics· October 2008

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Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency.
Caroline Kappeler, Marc Dhenain, Françoise Phan Dinh Tuy, Yoann Saillour, Serge Marty, Jean-Marc Pinard

J Comp Neurol· January 2007

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Subependymal giant-cell astrocytomas in pediatric tuberous sclerosis disease: when should we operate?
Sandrine de Ribaupierre, Georg Dorfmüller, Christine Bulteau, Martine Fohlen, Jean-Marc Pinard

Neurosurgery· January 2007

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Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Susana Quijano-Roy, Itxaso Martí-Carrera, Samira Makri, Michèle Mayer, Svetlana Maugenre, Jean-Marc Pinard

Brain Dev· May 2006

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