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My resesarch focuses on congenital brain malformations, which are usually the result of disruption during fetal development. Affected children can have important neurologic impairments, such as motor deficits, learning impairments and epilepsy. Though a genetic etiology is often suspected, the responsible gene is rarely identified. I study the genetic causes of congenital brain malformations using novel sequencing technologies. My lab is particularly interested in schizencephaly, which is a brain abnormality characterized by an abnormal "split" in the brain, on structural disorders of the cerebellum, which is the area of the brain mainy responsible for coordination, and on focal cortical dyplasias, which are groups of disorganized and abnormal cells in the brain that are the major cause of severe epilepsy. My aim is to identify the genes responsible for these disorders, in order to shed light on the underlying mechanism, improve clinical care and genetic counseling, and ultimately develop novel treatments and specific therapies.
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论文共 140 篇作者统计合作学者相似作者
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CEREBELLUMno. 2 (2024): 418-430
Meagan L. Collins Hutchinson,Judith St-Onge,Sabrina Schlienger,Nassima Boudrahem-Addour,Lina Mougharbel,Jean-Francois Michaud, Clara Lloyd, Elena Bruneau, Cedric Roux,Ahmed N. Sahly,Bradley Osterman,Kenneth A. Myers,Guy A. Rouleau, Daniel Alexander Jimenez Cruz,Jean-Baptiste Riviere,Andrea Accogli, Frederic Charron,Myriam Srour
Gabriela J. Blaszczyk,Chao Weng,Abdulshakour Mohammadnia,Qiao-Ling Cui, Arianna Giurleo,Adam M.R. Groh, Chloe Plouffe,Julien Sirois,Valerio E. C. Piscopo,Moein Yaqubi, Asad Taqvi, Erin Cassidy,Jeffery A. Hall,Roy W.R. Dudley,Myriam Srour,Stephanie E J Zandee,Wendy Klement,Sandra Larouche,Alexandre Prat,Thomas M. Durcan,Jo Anne Stratton,Jack P. Antel,G. R. Wayne Moore
crossref(2024)
Open Journal of Clinical and Medical Case Reportsno. 6 (2024)
Human geneticsno. 5 (2024): 667-681
Andrea Accogli,Young N. Park,Guy M. Lenk,Mariasavina Severino,Marcello Scala,Jonas Denecke,Maja Hempel,Davor Lessel,Fanny Kortuem,Vincenzo Salpietro,Patrizia de Marco,Sara Guerrisi,Annalaura Torella,Vincenzo Nigro,Myriam Srour,Ernest Turro,Veerle Labarque,Kathleen Freson,Gianluca Piatelli,Valeria Capra,Jacob O. Kitzman,Miriam H. Meisler
Genetics in medicinepp.101097-101097, (2024)
MULTIPLE SCLEROSIS JOURNAL (2023): 177-177
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#Papers: 138
#Citation: 3551
H-Index: 25
G-Index: 58
Sociability: 7
Diversity: 0
Activity: 2
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