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The most common European HINT1 neuropathy variant phenotype and its case studies
Article de revueFront Neurol, 14 , 2023.
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia
Article de revueNeurol Genet, 8 (3), 2022.
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related
Article de revueHum Mutat, 43 (10), 2022.
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia
Article de revueNeurol Genet, 8 (3), 2022.
Case Report: Two Families With HPDL Related Neurodegeneration
Article de revueFront Genet, 13 , 2022.
A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy
Article de revueFront Neurol, 12 , 2021.
A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy
Article de revueJIMD Rep, 59 (1), 2021.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia
Article de revueAnn Neurol, 89 (3), 2021.
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
Article de revueBMC Neurol, 20 (1), 2020.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Article de revueEur J Hum Genet, 28 (10), 2020.