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Nicolas Chrestian

Showing results (11-20 of 24) with videos related to

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Neuromuscular Disorders : NMD|March 14, 2008
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-CanadiansNicolas Dupré, Nicolas Chrestian, Jean-Pierre Bouchard, et al.
American Journal of Medical Genetics. Part A|June 9, 2025
Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by CAPN15 Pathogenic VariantsEric Lin, Tania Cruz-Marino, Nicolas Chrestian, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|August 22, 2008
A novel mutation in a large French-Canadian family with LGMD1BNicolas Chrestian, Paul N Valdmanis, Najmeddine Echahidi, et al.
Annals of Neurology|May 16, 2007
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1Nicolas Dupré, François Gros-Louis, Nicolas Chrestian, et al.
JIMD Reports|May 12, 2021
A founder mutation in the <i>PLPBP</i> gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsyMaitou Pal, Baiba Lace, Yvan Labrie, et al.
Neuromuscular Disorders : NMD|May 26, 2020
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicityJanis Stavusis, Ieva Micule, Nathan T Wright, et al.
Neurology. Genetics|March 27, 2020
Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34Marie Beaudin, Leila Sellami, Christian Martel, et al.
International Journal of Neonatal Screening|October 24, 2025
Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year ExperienceEmilie Groulx-Boivin, Ariane Belzile, Cam-Tu Émilie Nguyen, et al.
Frontiers in Genetics|February 28, 2022
Case Report: Two Families With <i>HPDL</i> Related NeurodegenerationIeva Micule, Baiba Lace, Nathan T Wright, et al.
Annals of Neurology|January 24, 2020
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French CanadiansDavid Pellerin, Asli Aykanat, Benjamin Ellezam, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Neuromuscular Disorders : NMD|March 14, 2008
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-CanadiansNicolas Dupré, Nicolas Chrestian, Jean-Pierre Bouchard, et al.
American Journal of Medical Genetics. Part A|June 9, 2025
Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by CAPN15 Pathogenic VariantsEric Lin, Tania Cruz-Marino, Nicolas Chrestian, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|August 22, 2008
A novel mutation in a large French-Canadian family with LGMD1BNicolas Chrestian, Paul N Valdmanis, Najmeddine Echahidi, et al.
Annals of Neurology|May 16, 2007
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1Nicolas Dupré, François Gros-Louis, Nicolas Chrestian, et al.
JIMD Reports|May 12, 2021
A founder mutation in the <i>PLPBP</i> gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsyMaitou Pal, Baiba Lace, Yvan Labrie, et al.
Neuromuscular Disorders : NMD|May 26, 2020
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicityJanis Stavusis, Ieva Micule, Nathan T Wright, et al.
Neurology. Genetics|March 27, 2020
Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34Marie Beaudin, Leila Sellami, Christian Martel, et al.
International Journal of Neonatal Screening|October 24, 2025
Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year ExperienceEmilie Groulx-Boivin, Ariane Belzile, Cam-Tu Émilie Nguyen, et al.
Frontiers in Genetics|February 28, 2022
Case Report: Two Families With <i>HPDL</i> Related NeurodegenerationIeva Micule, Baiba Lace, Nathan T Wright, et al.
Annals of Neurology|January 24, 2020
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French CanadiansDavid Pellerin, Asli Aykanat, Benjamin Ellezam, et al.
Pageof 3