Genetic testing for amyotrophic lateral sclerosis in Canada – an assessment of current practices
Related Articles
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study
Background and Objectives We investigated the prevalence of late-onset Pompe disease (LOPD) in patients presenting to 13 academic, tertiary neuromuscular practices in the United States…
Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the Clinic
Objective To report the frequency of amyotrophic lateral sclerosis (ALS) genetic variants in a nationwide cohort of clinic-based patients with ALS with a family history…
C9orf72 and the Care of the Patient With ALS or FTD: Progress and Recommendations After 10 Years
The 2011 discovery of the pathogenic hexanucleotide repeat expansion (HRE) in C9orf72, the leading genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia…
Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease
Objective To report the association between type 1 Gaucher disease (GD1) and amyotrophic lateral sclerosis (ALS) in 3 unrelated families and to explore whether GBA…
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies
Objective The term ‘precision medicine’ describes a rational treatment strategy tailored to one person that reverses or modifies the disease pathophysiology. In epilepsy, single case…
English
العربية
简体中文
Nederlands
Français
Deutsch
Italiano
Português
Русский
Español
Responses