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Genomics|July 3, 2003
Molecular cloning and characterization of human RAI1, a gene associated with schizophreniaAndré Toulouse, Daniel Rochefort, Julie Roussel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 27, 2004
Mutational analysis of neurotensin in familial restless legs syndromeAlex Desautels, Gustavo Turecki, Lan Xiong, et al.
Neurobiology of Disease|April 10, 2007
Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophyChristiane Messaed, Patrick A Dion, Aida Abu-Baker, et al.
European Journal of Human Genetics : EJHG|November 22, 2012
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individualsAmélie Piton, Loubna Jouan, Daniel Rochefort, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndromeFaezeh Sarayloo, Dan Spiegelman, Daniel Rochefort, et al.
Epilepsy Research|February 11, 2003
Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)Patrick Cossette, Andrew Loukas, Ronald G Lafrenière, et al.
Neurology. Genetics|March 16, 2026
Consequences of the Novel ALS-Associated KIF5A Variant c.2993-6C > A for Exon 27 Splicing and Axonal Transport of SFPQGuy A Rouleau, Ziqi Yu, Jay P Ross, et al.
Molecular Psychiatry|May 2, 2025
Transcriptomic and epigenomic consequences of heterozygous loss-of-function mutations in AKAP11, a shared risk gene for bipolar disorder and schizophreniaNargess Farhangdoost, Calwing Liao, Yumin Liu, et al.
Scientific Reports|October 30, 2025
Lithium partially rescues gene expression and enhancer activity from heterozygous knockout of AKAP11 while inducing novel differential changesNargess Farhangdoost, Alessia Pietrantonio, Yumin Liu, et al.
Neuromolecular Medicine|April 1, 2003
NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGHIrene Szijan, Daniel Rochefort, Carl Bruder, et al.
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