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Journal of Neurology, Neurosurgery, and Psychiatry|January 18, 2015
Severe phenotypic spectrum of biallelic mutations in PRRT2 geneMarion Delcourt, Florence Riant, Josette Mancini, et al.
European Journal of Medical Genetics|February 19, 2013
Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasiaDelphine Rocas, Eudeline Alix, Jessica Michel, et al.
European Journal of Human Genetics : EJHG|October 22, 2015
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1Ali Abdullah Alfaiz, Verena Müller, Nadia Boutry-Kryza, et al.
American Journal of Human Genetics|May 27, 2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationKristine Freude, Kirsten Hoffmann, Lars-Riff Jensen, et al.
Neurogenetics|August 8, 2008
The location of DCX mutations predicts malformation severity in X-linked lissencephalyPierre-Louis Leger, Isabelle Souville, Nathalie Boddaert, et al.
Neurology|March 26, 2024
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (<i>SLC6A8</i>)Aurore Curie, Laurence Lion-François, Vassili Valayannopoulos, et al.
American Journal of Human Genetics|March 15, 2003
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlatesSébastien Jacquemont, Randi J Hagerman, Maureen Leehey, et al.
Neuroimage. Clinical|July 10, 2018
Basal ganglia involvement in <i>ARX</i> patients: The reason for <i>ARX</i> patients very specific grasping?Aurore Curie, Gaëlle Friocourt, Vincent des Portes, et al.
Epilepsia|April 24, 2016
Anti-tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot studyStanislas Lagarde, Nathalie Villeneuve, Agnès Trébuchon, et al.
Epilepsia|February 13, 2008
The three stages of epilepsy in patients with CDKL5 mutationsNadia Bahi-Buisson, Anna Kaminska, Nathalie Boddaert, et al.
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