Cargando…

Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective

OBJECTIVE: To evaluate the diagnostic yield of an 89-gene panel in a large cohort of patients with suspected muscle disorders and to compare the diagnostic yield of gene panel and exome sequencing approaches. METHODS: We tested 1,236 patients from outpatient clinics across Canada using a gene panel...

Descripción completa

Detalles Bibliográficos
Autores principales:	Thuriot, Fanny, Gravel, Elaine, Buote, Caroline, Doyon, Marianne, Lapointe, Elvy, Marcoux, Lydia, Larue, Sandrine, Nadeau, Amélie, Chénier, Sébastien, Waters, Paula J., Jacques, Pierre-Étienne, Gravel, Serge, Lévesque, Sébastien
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164974/ https://www.ncbi.nlm.nih.gov/pubmed/32337335 http://dx.doi.org/10.1212/NXG.0000000000000408

Ejemplares similares

Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots
por: Thuriot, Fanny, et al.
Publicado: (2021)

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene
por: Waters, Paula J., et al.
Publicado: (2016)

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
por: Lévesque, Sébastien, et al.
Publicado: (2016)

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec
por: Waters, Paula J., et al.
Publicado: (2019)

PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes
por: Trakadis, Yannis J, et al.
Publicado: (2014)

Treating Parkinson’s Disease with Antibodies: Previous Studies and Future Directions
por: Castonguay, Anne-Marie, et al.
Publicado: (2021)

Perceptions of climate change across the Canadian forest sector: The key factors of institutional and geographical environment
por: Ameztegui, Aitor, et al.
Publicado: (2018)

Validity and reproducibility of an interviewer-administered food frequency questionnaire for healthy French-Canadian men and women
por: Goulet, Julie, et al.
Publicado: (2004)

Easy-to-Implement Hydrogen Isotope Exchange for the Labeling of N-Heterocycles, Alkylkamines, Benzylic Scaffolds, and Pharmaceuticals
por: Levernier, Etienne, et al.
Publicado: (2022)

Interventions to enhance adherence to dietary advice for preventing and managing chronic diseases in adults: a study protocol
por: Desroches, Sophie, et al.
Publicado: (2011)

Editorial: Signaling in the Phytomicrobiome
por: Smith, Donald L., et al.
Publicado: (2017)

Raman Spectroscopy Applied to Monitor Furfural Liquid-Phase Oxidation Catalyzed by Supported Gold Nanoparticles
por: Thuriot-Roukos, Joëlle, et al.
Publicado: (2020)

Dma/RNF8 proteins are evolutionarily conserved E3 ubiquitin ligases that target septins
por: Chahwan, Richard, et al.
Publicado: (2013)

RNF8 links nucleosomal and cytoskeletal ubiquitylation of higher order protein structures
por: Chahwan, Richard, et al.
Publicado: (2013)

Are health care workers protected? An observational study of selection and removal of personal protective equipment in Canadian acute care hospitals
por: Mitchell, Robyn, et al.
Publicado: (2013)

Acute effect of Finnish sauna bathing on brachial artery flow‐mediated dilation and reactive hyperemia in healthy middle‐aged and older adults
por: Gravel, Hugo, et al.
Publicado: (2019)

Beliefs Related to Participation in a Large Web-Based Prospective Survey on Diet and Health Among Individuals With a Low Socioeconomic Status: Qualitative Study
por: Côté, Mélina, et al.
Publicado: (2019)

Deciphering the Dichotomous Effects of PGC-1α on Tumorigenesis and Metastasis
por: Gravel, Simon-Pierre
Publicado: (2018)

Clinical Notes on Dysemia
por: Gravel, Louis J.
Publicado: (1903)

Clinical Notes on Dysemia
por: Gravel, Louis J.
Publicado: (1903)

DNA damage checkpoint adaptation genes are required for division of cells harbouring eroded telomeres
por: Mersaoui, Sofiane Y., et al.
Publicado: (2015)

Epidemiological features of influenza in Canadian adult intensive care unit patients
por: TAYLOR, G., et al.
Publicado: (2016)

COVID-19 related stress and fears of contamination: the impact of feared self-perceptions
por: Audet, Jean-Sébastien, et al.
Publicado: (2023)

Posterior scleritis after biweekly aflibercept intravitreal injections
por: Hébert, Mélanie, et al.
Publicado: (2022)

When is an ecological network complex? Connectance drives degree distribution and emerging network properties
por: Poisot, Timothée, et al.
Publicado: (2014)

A cross-sectional survey examining motivation and beliefs to participating in a web-based prospective cohort study on nutrition and health among individuals with a low socioeconomic status
por: Côté, Mélina, et al.
Publicado: (2020)

Clozapine Prescribing in a Canadian Outpatient Population
por: Alessi-Severini, Silvia, et al.
Publicado: (2013)

Adeno-associated Virus–mediated Delivery of a Recombinant Single-chain Antibody Against Misfolded Superoxide Dismutase for Treatment of Amyotrophic Lateral Sclerosis
por: Patel, Priyanka, et al.
Publicado: (2014)

Cost-effectiveness of drug-eluting stents versus bare-metal stents in patients undergoing percutaneous coronary intervention
por: Baschet, Louise, et al.
Publicado: (2016)

Prevalence of antimicrobial use in a network of Canadian hospitals in 2002 and 2009
por: Taylor, Geoffrey, et al.
Publicado: (2015)

Assessing the magnitude and trends in hospital acquired infections in Canadian hospitals through sequential point prevalence surveys
por: Taylor, Geoffrey, et al.
Publicado: (2016)

A complex speciation–richness relationship in a simple neutral model
por: Desjardins-Proulx, Philippe, et al.
Publicado: (2012)

Key Beliefs for Targeted Interventions to Increase Physical Activity in Children: Analyzing Data from an Extended Version of the Theory of Planned Behaviour
por: Bélanger-Gravel, A., et al.
Publicado: (2010)

Models of archaic admixture and recent history from two-locus statistics
por: Ragsdale, Aaron P., et al.
Publicado: (2019)

Laboratory-confirmed pandemic H1N1 influenca in hospitalized adults – findings from the Canadian Nosocomial Infection Surveillance Program (CNISP), 2009-10
por: Taylor, G, et al.
Publicado: (2011)

Ivabradine: the evidence of its therapeutic impact in angina
por: Marquis-Gravel, Guillaume, et al.
Publicado: (2008)

Genetic disorders of vitamin B(12) metabolism: eight complementation groups – eight genes
por: Froese, D. Sean, et al.
Publicado: (2010)

High-Throughput Sequencing: A Roadmap Toward Community Ecology
por: Poisot, Timothée, et al.
Publicado: (2013)

Frequency of Chromosomally-Integrated Human Herpesvirus 6 in Children with Acute Lymphoblastic Leukemia
por: Gravel, Annie, et al.
Publicado: (2013)

Complete Genome Sequence of Early Passaged Human Herpesvirus 6A (GS Strain) Isolated from North America
por: Gravel, Annie, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_7hfbc8hq3nbtbv4pv2352js071