L. Loisel
Université de Montréal
6 Papers
20 Citations
L. Loisel is an academic researcher from Université de Montréal. The author has contributed to research in topics: Biology & Population. The author has an hindex of 6, co-authored 6 publications.
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Papers
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.
Antoine Duquette,Katel Roddier,Julia McNabb-Baltar,Isabelle Gosselin,Anik St-Denis,Marie-Josée Dicaire,L. Loisel,Damian Labuda,Luc Marchand,Jean Mathieu,Jean-Pierre Bouchard,Bernard Brais +11 more
TL;DR: The study of this large French‐Canadian cohort better defines the phenotype of this ataxia and presents two novel mutations in senataxin including the more common founder mutation in the French‐ Canadian population.
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A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.
Jonathan Jarry,M. F. Rioux,M. F. Rioux,V. Bolduc,Yves Robitaille,V. Khoury,Isabelle Thiffault,Martine Tétreault,L. Loisel,J.P. Bouchard,Bernard Brais +10 more
TL;DR: The chromosomal locus of a new form of recessive LGMD with prominent quadriceps femoris atrophy with Haplotype analysis of carrier chromosomes suggests that the most frequent mutation may account for up to 81.3% of French-Canadian mutations.
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Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
Isabelle Gosselin,Isabelle Thiffault,Martine Tétreault,Vann Chau,Marie-Josée Dicaire,L. Loisel,Monique Emond,Jan Senderek,Jean Mathieu,Nicolas Dupré,Michel Vanasse,Jack Puymirat,Bernard Brais +12 more
TL;DR: It is demonstrated that the clinical variability observed in CMT4C is due to other factors than the nature of the mutation and that further work is needed to better define the SH3TC2 gene to ensure the identification of all C MT4C mutations.
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A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21
Martine Tétreault,Antoine Duquette,Isabelle Thiffault,Claude Bhérer,Jonathan Jarry,L. Loisel,Brenda Banwell,G. D'Anjou,Jean Mathieu,Y. Robitaille,Michel Vanasse,Bernard Brais +11 more
TL;DR: A new form of recessive CMD with joint hyperlaxity distinct from Ullrich and Bethlem myopathies with a founder effect in the French-Canadian population is described and mapped.
33
Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.
Marco L. Loggia,M. Catherine Bushnell,Martine Tétreault,Isabelle Thiffault,Claude Bhérer,Nazma K. Mohammed,Anil A. Kuchinad,Audrey L. Laferriere,Marie-Josée Dicaire,L. Loisel,Jeffrey S. Mogil,Bernard Brais +11 more
TL;DR: It is demonstrated that the carriers of a recessive mutation for HSAN2 display greater sensitivity to innocuous thermal stimuli, as well as for cold pain, suggesting a possible environmental adaptive advantage of the heterozygous state.
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