Daniel Rochefort

Montreal, QC, Canada

Last Updated: 09/26/2026

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Found 30 publications

Erratum: Consequences of the Novel ALS-Associated KIF5A Variant c.2993-6C>A for Exon 27 Splicing and Axonal Transport of SFPQ.

Erratum: Consequences of the Novel ALS-Associated KIF5A Variant c.2993-6C>A for Exon 27 Splicing and Axonal Transport of SFPQ.

Journal: Neurology. Genetics

Published: July 24, 2026

Consequences of the Novel ALS-Associated KIF5A Variant c.2993-6C > A for Exon 27 Splicing and Axonal Transport of SFPQ.

Consequences of the Novel ALS-Associated KIF5A Variant c.2993-6C > A for Exon 27 Splicing and Axonal Transport of SFPQ.

Journal: Neurology. Genetics

Published: May 16, 2025

Lithium partially rescues gene expression and enhancer activity from heterozygous knockout of AKAP11 while inducing novel differential changes.

Lithium partially rescues gene expression and enhancer activity from heterozygous knockout of AKAP11 while inducing novel differential changes.

Journal: Scientific reports

Published: February 26, 2025

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

Journal: American journal of medical genetics. Part A

Published: November 27, 2024

Transcriptomic and epigenomic consequences of heterozygous loss-of-function mutations in AKAP11, a shared risk gene for bipolar disorder and schizophrenia.

Transcriptomic and epigenomic consequences of heterozygous loss-of-function mutations in AKAP11, a shared risk gene for bipolar disorder and schizophrenia.

Journal: Molecular psychiatry

Published: March 20, 2024

Autism-associated CHD8 controls reactive gliosis and neuroinflammation via remodeling chromatin in astrocytes.

Autism-associated CHD8 controls reactive gliosis and neuroinflammation via remodeling chromatin in astrocytes.

Journal: Cell reports

Published: September 25, 2023

Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids.

Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids.

Journal: PLoS genetics

Published: July 20, 2022

Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor.

Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor.

Journal: Frontiers in genetics

Published: March 03, 2020

SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome.

SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome.

Journal: European journal of human genetics : EJHG

Published: February 19, 2020

Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor.

Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: November 25, 2019

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations.

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations.

Journal: Frontiers in genetics

Published: August 14, 2019

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression.

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression.

Journal: PloS one

Published: August 12, 2019

Showing 1-12 of 30

Last Updated: 09/26/2026