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Therapeutic Drug Monitoring|March 3, 2022
What Is the Therapeutic Reference Range for Levetiracetam? Grand Round/A Case StudySylvain Couderc, Mondher Chouchane, Franck Saint-Marcoux
European Journal of Medical Genetics|June 30, 2006
A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndromeMarina Colombani, Mondher Chouchane, Gaelle Pitelet, et al.
American Journal of Medical Genetics. Part A|May 25, 2013
Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 geneMagali Avila, Maria Kirchhoff, Nathalie Marle, et al.
American Journal of Medical Genetics. Part A|June 18, 2009
Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGHAlice Masurel-Paulet, Patrick Callier, Christel Thauvin-Robinet, et al.
Epilepsia|July 21, 2011
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutationsMathieu Milh, Nathalie Villeneuve, Mondher Chouchane, et al.
European Neurology|December 5, 2014
Angelman syndrome: a case series assessing neurological issues in adulthoodMarie Giroud, Benoît Daubail, Norbert Khayat, et al.
Frontiers in Pediatrics|March 22, 2021
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the LiteratureMarc Gibaud, Magalie Barth, Jérémie Lefranc, et al.
Neurology|August 31, 2018
Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort studyKarolina Aragon-Gawinska, Andreea M Seferian, Aurore Daron, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|March 13, 2026
Longitudinal multi-omics profiling of spinal muscular atrophyIvana Dabaj, Thi Hai Yen Nguyen, Emmanuelle Lagrue, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|December 22, 2023
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or typeFrédérique Audic, Sonia M Dubois, Julien Durigneux, et al.
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