LIS1-Related Isolated Lissencephaly
Yoann Saillour
,
Nathalie Carion
,
Chloe Quelin
,
Pierre-Louis Leger
,
Nathalie Boddaert
et al.
Journal articles
hal-01104698v1
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Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.
Yline Capri
,
Edith C H Friesema
,
Simone Kersseboom
,
Renaud Touraine
,
Aurélie Monnier
et al.
Journal articles
istex
hal-00904130v1
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The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
Aurore Curie
,
Tatjana Nazir
,
Amandine Brun
,
Yves Paulignan
,
Anne Reboul
et al.
Journal articles
hal-01020483v1
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Severe phenotypic spectrum of biallelic mutations in PRRT2 gene
Marion Delcourt
,
Florence Riant
,
Josette Mancini
,
Mathieu Milh
,
Vincent Navarro
et al.
Journal articles
hal-02136851v1
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Une épreuve d’écoute dichotique pour diagnostiquer les modifications d’asymétrie hémisphérique dans l’épilepsie bénigne de l’enfance
Céline Lopez
,
Vania Herbillon
,
Nathalie Bedoin
,
Emmanuel Ferragne
,
Egidio Marsico
et al.
Colloque "Neuroscience, Education et Francophonie" (NEF) , Mar 2009, Lyon, France. Actes du Colloque "Neuroscience, Education et Francophonie" (NEF), 2009
Conference poster
hal-01240423v1
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Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
Mirna Assoum
,
Matthew Lines
,
Orly Elpeleg
,
Véronique Darmency
,
Sharon Whiting
et al.
Journal articles
hal-01990608v1
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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Karine Poirier
,
Nicolas Lebrun
,
Loic Broix
,
Guoling Tian
,
Yoann Saillour
et al.
Journal articles
inserm-00838073v1
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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 Salomons
,
Karine Mention-Mulliez
et al.
Journal articles
inserm-00780328v1
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Stratégie d'exploration d'une déficience intellectuelle inexpliquée
Alain Verloes
,
Delphine Heron
,
T, Billette de Villemeur
,
Alexandra Afenjar
,
N. Bahi-Buisson
et al.
Archives de Pédiatrie , 2012, 19 (2), pp.194-207
Journal articles
hal-00916006v1
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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
Arjan P M de Brouwer
,
Helger G Yntema
,
Tjitske Kleefstra
,
Dorien Lugtenberg
,
Astrid R Oudakker
et al.
Journal articles
hal-00655314v1
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MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Suzanna Gerarda Maria Frints
,
Steffen Lenzner
,
Mareike Bauters
,
Lars Riff Jensen
,
Hilde van Esch
et al.
Journal articles
hal-00655304v1
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Atypical hemispheric asymmetries for the processing of phonological features in children with rolandic epilepsy.
Nathalie Bedoin
,
Emmanuel Ferragne
,
Céline Lopez
,
Vania Herbillon
,
J. de Bellescize
et al.
Journal articles
istex
hal-00655284v1
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New insights into CC2D2A -related Joubert syndrome
Madeleine Harion
,
Leila Qebibo
,
Audrey Riquet
,
Christelle Rougeot
,
Alexandra Afenjar
et al.
Journal articles
hal-03837222v1
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Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency
Aurore Curie
,
Silvia Sacco
,
Gerald Bussy
,
Anne de Saint Martin
,
Nathalie Boddaert
et al.
Journal articles
istex
hal-01104707v1
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Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
Solveig Heide
,
Boris Keren
,
Thierry Billette de Villemeur
,
Sandra Chantot-Bastaraud
,
Christel Depienne
et al.
Journal articles
hal-01560200v1
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Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
Catherine Vaurs-Barrière
,
Marlène Deville
,
Catherine Sarret
,
Geneviève Giraud
,
Vincent Des Portes
et al.
Journal articles
istex
hal-00655300v1
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The three stages of epilepsy in patients with CDKL5 mutations.
Nadia Bahi-Buisson
,
Anna Kaminska
,
Nathalie Boddaert
,
Marlène Rio
,
Alexandra Afenjar
et al.
Journal articles
hal-00652527v1
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Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations
Ganaelle Remerand
,
Odile Boespflug‐tanguy
,
Davide Tonduti
,
Renaud Touraine
,
Diana Rodriguez
et al.
Journal articles
hal-02267879v1
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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
et al.
Journal articles
istex
hal-01104714v1
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KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP
Mathieu Kuchenbuch
,
Giulia Barcia
,
Nicole Chemaly
,
Emilie Carme
,
Agathe Roubertie
et al.
Journal articles
hal-02304375v1
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Deleterious mutations in exon 1 of MECP2 in Rett syndrome.
Aline Quenard
,
Saliha Yilmaz
,
Hervé Fontaine
,
Thierry Bienvenu
,
Anne Moncla
et al.
Journal articles
istex
hal-00655311v1
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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Lydie Burglen
,
Sandra Chantot-Bastaraud
,
Catherine Garel
,
Mathieu Milh
,
Renaud Touraine
et al.
Journal articles
inserm-00697436v1
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GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex
Nadia Bahi-Buisson
,
Karine Poirier
,
Nathalie Boddaert
,
Catherine Fallet-Bianco
,
Nicola Specchio
et al.
Journal articles
hal-01668022v1
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Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
Salima El Chehadeh
,
Laurence Faivre
,
Anne-Laure Mosca-Boidron
,
Valérie Malan
,
Jeanne Amiel
et al.
Journal articles
istex
hal-01237099v1
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