Daniel Rochefort
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Explore the profile of Daniel Rochefort including associated specialties, affiliations and a list of published articles.
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Recent Articles
1.
McAdam A, Ito Y, Richard M, Spiegelman D, Rochefort D, Xiong L, et al.
Am J Med Genet A
. 2024 Dec;
:e63974.
PMID: 39713852
Biallelic variants in GLDN have recently been associated with lethal congenital contracture syndrome 11 (LCCS11), a form of fetal akinesia deformation sequence (FADS) with high neonatal mortality. In this report,...
2.
Megagiannis P, Mei Y, Yan R, Yuan L, Wilde J, Eckersberg H, et al.
Cell Rep
. 2024 Aug;
43(8):114637.
PMID: 39154337
Reactive changes of glial cells during neuroinflammation impact brain disorders and disease progression. Elucidating the mechanisms that control reactive gliosis may help us to understand brain pathophysiology and improve outcomes....
3.
Tamaki Y, Ross J, Alipour P, Castonguay C, Li B, Catoire H, et al.
PLoS Genet
. 2023 Feb;
19(2):e1010606.
PMID: 36745687
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by progressive loss of motor neurons and there is currently no effective therapy. Cytoplasmic mislocalization and aggregation of TAR DNA-binding...
4.
Liao C, Sarayloo F, Vuokila V, Rochefort D, Akcimen F, Diamond S, et al.
Front Genet
. 2020 Aug;
11:813.
PMID: 32849812
Essential tremor (ET) is a common movement disorder that has a high heritability. A number of genetic studies have associated different genes and loci with ET, but few have investigated...
5.
Sarayloo F, Spiegelman D, Rochefort D, Akcimen F, De Barros Oliveira R, Dion P, et al.
Eur J Hum Genet
. 2020 Jun;
28(11):1520-1528.
PMID: 32572201
Restless legs syndrome (RLS) is a common sleep-related sensory-motor disorder. It is characterized by uncomfortable sensations in the legs during the evening or at night. The symptoms can be partially...
6.
Liao C, Sarayloo F, Rochefort D, Houle G, Akcimen F, He Q, et al.
Mov Disord
. 2020 Apr;
35(7):1153-1162.
PMID: 32249994
Introduction: The genetic factors and molecular mechanisms predisposing to essential tremor (ET) remains largely unknown. Objective: The objective of this study was to identify pathways and genes relevant to ET...
7.
Akcimen F, Ross J, Bourassa C, Liao C, Rochefort D, Gama M, et al.
Front Genet
. 2019 Dec;
10:1219.
PMID: 31824583
A biallelic pentanucleotide expansion in the gene has been reported to be a common cause of late-onset ataxia. In the general population, four different repeat conformations are observed: wild type...
8.
Sarayloo F, Dionne-Laporte A, Catoire H, Rochefort D, Houle G, Ross J, et al.
PLoS One
. 2019 Nov;
14(11):e0225186.
PMID: 31725784
Restless legs syndrome is a common complex disorder with different genetic and environmental risk factors. Here we used human cell lines to conduct an RNA-Seq study and observed how the...
9.
Ambalavanan A, Chaumette B, Zhou S, Xie P, He Q, Spiegelman D, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2018 Nov;
180(6):335-340.
PMID: 30378261
Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia, defined as having an onset before the age of 13. The male COS cases have a slightly younger age...
10.
Catoire H, Sarayloo F, Mourabit Amari K, Apuzzo S, Grant A, Rochefort D, et al.
Sci Rep
. 2018 Aug;
8(1):12173.
PMID: 30111810
Restless Legs syndrome (RLS) is a common sleep disorder for which the genetic contribution remains poorly explained. In 2007, the first large scale genome wide association study (GWAS) identified three...