scispace - formally typeset
G

Guy A. Rouleau

Researcher at Montreal Neurological Institute and Hospital

Publications -  935
Citations -  75050

Guy A. Rouleau is an academic researcher from Montreal Neurological Institute and Hospital. The author has contributed to research in topics: Gene & Genome-wide association study. The author has an hindex of 129, co-authored 884 publications receiving 65892 citations. Previous affiliations of Guy A. Rouleau include Utrecht University & University of Helsinki.

Papers
More filters
Journal ArticleDOI

Molecular aspects of hereditary spastic paraplegia.

TL;DR: A review looks at the key players involved in HSP and where they act in their specific pathways and may lead to new therapeutic strategies for what is a group of largely untreatable diseases.
Journal ArticleDOI

Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients

TL;DR: A unique ALS tissue-engineered skin model derived from patient’s own cells that could represent a renewable source of human tissue, quickly and easily accessible to better understand the physiopathological mechanisms underlying this disease and to develop innovative tools for early diagnosis and disease monitoring.
Journal ArticleDOI

Assessment of chromosome 22 anomalies in neurinomas by combined karyotype and RFLP analyses

TL;DR: It appears that loss of chromosome 22 is a characteristic of neurinomas whatever their context of occurrence.
Journal ArticleDOI

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.

TL;DR: Using a multifaceted approach based on the functional prediction of missense variants, the conservation of the altered amino acid, and the cosegregation of the variants identified in familial cases, several promising novel genes for ALS such as LUM and CRYM are identified.
Journal ArticleDOI

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome.

TL;DR: DNA markers that map to 22q11-pter are analyzed and 27 that are deleted in DiGeorge syndrome patients with known monosomy for part of this region and that are duplicated in patients with the der22 syndrome are found.