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Adrenal insufficiency among children treated with hormonal therapy for infantile spasms
Article de revueEpilepsia, 2022.
Case Report: Two Families With HPDL Related Neurodegeneration
Article de revueFront Genet, 13 , 2022.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
Article de revueAm J Hum Genet, 108 (10), 2021.
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.
The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry
Article de revueJ Neuromuscul Dis, 8 (1), 2021.
Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study
Article de revueJ Child Neurol, 35 (13), 2020.
Respiratory Dysfunction and Sleep-Disordered Breathing in Children With Myasthenia Gravis
Article de revueJ Child Neurol, 35 (9), 2020.
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
Article de revueBMC Neurol, 20 (1), 2020.
Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34
Article de revueNeurol Genet, 6 (2), 2020.