CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-relatedArticle de revue
Hum Mutat, 2022.
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of LatviaArticle de revue
Neurol Genet, 8 (3), 2022.
Case Report: Two Families With HPDL Related NeurodegenerationArticle de revue
Front Genet, 13 , 2022.
A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline MyopathyArticle de revue
Front Neurol, 12 , 2021.
A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsyArticle de revue
JIMD Rep, 59 (1), 2021.
EIF2AK2 Missense Variants Associated with Early Onset Generalized DystoniaArticle de revue
Ann Neurol, 89 (3), 2021.
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case reportArticle de revue
BMC Neurol, 20 (1), 2020.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeArticle de revue
Eur J Hum Genet, 28 (10), 2020.
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicityArticle de revue
Neuromuscul Disord, 30 (6), 2020.
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from QuebecArticle de revue
Mol Genet Genomic Med, 7 (12), 2019.