C. Morin

发表

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

Eric S. Lander, Thomas J. Hudson, Matthias Mann, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Stroke‐like episodes in autosomal recessive cytochrome oxidase deficiency

G. Mitchell, B. Robinson, M. Lambert, 1999, Annals of neurology.

Meta-analysis identifies seven susceptibility loci involved in the atopic march

Manuel A. R. Ferreira, C. Gieger, D. Postma, 2015, Nature Communications.

Mitochondrial Vulnerability and Increased Susceptibility to Nutrient-Induced Cytotoxicity in Fibroblasts from Leigh Syndrome French Canadian Patients

G. Boucher, C. Des Rosiers, Y. Burelle, 2015, PloS one.

Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability

D. Gaudet, D. Brisson, C. Laprise, 2021, Journal of Medical Genetics.

Determinants of omalizumab dose-related efficacy in oral immunotherapy: evidence from a cohort of 181 patients.

C. Morin, F. Graham, P. Bégin, 2020, The Journal of allergy and clinical immunology.

Longitudinal follow-up of the asthma status in a French–Canadian cohort

L. Boulet, C. Laprise, P. Bégin, 2022, Scientific reports.

Humoral responses to the measles, mumps and rubella vaccine are impaired in Leigh Syndrome French Canadian patients

C. Laprise, C. Des Rosiers, C. Morin, 2020, PloS one.

Low-concentration methylene blue maintains energy production and strongly improves survival of Leigh syndrome French Canadian skin fibroblasts.

B. Robinson, A. Pichette, J. Legault, 2011, Journal of pharmacy & pharmaceutical sciences : a publication of the Canadian Society for Pharmaceutical Sciences, Societe canadienne des sciences pharmaceutiques.

The role of the LRPPRC gene in cytochrome oxidase assembly: mutation causes lowered levels of COX I and COX III mRNA.

C. Ackerley, G. Mitchell, B. Robinson, 2004 .

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16.

E. Lander, T. Hudson, J. Rioux, 2001, American journal of human genetics.

Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

G. Mitchell, B. Robinson, M. Lambert, 1993, American journal of human genetics.

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.

G. Mitchell, B. Robinson, R. Petrova-Benedict, 1993, American journal of human genetics.

Eosinophilic esophagitis with extremely high esophageal eosinophil counts

M. Sears, C. Laprise, Q. Duan, 2020 .

Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc.

G. Mitchell, B. Robinson, C. Morin, 1998, Biochimica et biophysica acta.

4th Pediatric Allergy and Asthma Meeting (PAAM)

Manuel A. R. Ferreira, C. Gieger, D. Postma, 2016, Clinical and Translational Allergy.

French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED

P. Caron, B. Ellezam, J. Mathieu, 2021, Endocrine.

The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: a double-blind randomized crossover clinical trial.

G. Mitchell, B. Robinson, J. Lacroix, 2003, The Journal of pediatrics.

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

J. Rioux, V. Mootha, C. Laprise, 2015, Cell reports.

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

K. Dewar, J. Hacia, S. Lévesque, 2012, BMC Medical Genetics.

Mucolipidosis II: a single causal mutation in the N‐acetylglucosamine‐1‐phosphotransferase gene (GNPTAB) in a French Canadian founder population

C. Laprise, H. Vézina, P. Lepage, 2008, Clinical genetics.

The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA.

C. Ackerley, G. Mitchell, B. Robinson, 2004, The Biochemical journal.

Expression signature of the Leigh syndrome French-Canadian type

C. Laprise, J. Tardif, C. Morin, 2022, Molecular genetics and metabolism reports.

Ophthalmic manifestations in patients with Leigh syndrome, French Canadian type

C. Morin, M. Falcão, F. Pesenti, 2018, Ophthalmic genetics.

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

A. Janvier, B. Maranda, G. Mitchell, 2011, Journal of Medical Genetics.

Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1- phosphotransferase gene (GNPTAB )i n

C. Laprise, P. Lepage, C. Morin, 2008 .

Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9.

C. Laprise, J. Tremblay, J. Powell, 2022, The CRISPR journal.

Expression signature of epidermolysis bullosa simplex

C. Laprise, J. Powell, C. Morin, 2012, Human Genetics.

Adaptive optimization of the OXPHOS assembly line partially compensates lrpprc-dependent mitochondrial translation defects in mice

J. Rioux, E. Shoubridge, C. Laprise, 2021, Communications Biology.

Reduction in keratin aggregates in epidermolysis bullosa simplex keratinocytes after pretreatment with trimethylamine N‐oxide

C. Laprise, J. Powell, C. Morin, 2016, Experimental dermatology.

Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly

C. Laprise, J. Nadaf, J. Majewski, 2019, Molecular genetics & genomic medicine.

Clinical, Metabolic, andGenetic Aspects ofCytochrome C OxidaseDeficiency inSaguenay-Lac-Saint-Jean

C. Morin, H. Ogier, 1993 .

POLYGENIC RISK SCORE FOR ATOPIC DERMATITIS IN THE CANADIAN POPULATION.

M. Sears, C. Laprise, Q. Duan, 2020, The Journal of allergy and clinical immunology.

Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation.

C. Laprise, J. Powell, C. Morin, 2013, Journal of dermatological science.

Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations.

C. Laprise, F. Gros-Louis, J. Powell, 2022, Stem cell research.