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Nicolas Chrestian

Showing results (1-10 of 24) with videos related to

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Neuromuscular Disorders : NMD|May 10, 2016
ResponseNicolas Chrestian, Jiri Vajsar
Journal of Child Neurology|April 14, 2020
The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the LiteratureVincent Picher-Martel, Francis Brunet, Nicolas Dupré, et al.
Nature Clinical Practice. Neurology|August 26, 2006
Myotonia congenita--a cause of muscle weakness and stiffnessNicolas Chrestian, Jack Puymirat, Jean-Pierre Bouchard, et al.
Neuromuscular Disorders : NMD|July 20, 2015
Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature updateNicolas Chrestian, Hugh McMillan, Chantal Poulin, et al.
BMC Neurology|February 17, 2020
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case reportVincent Picher-Martel, Yvan Labrie, Serge Rivest, et al.
Epilepsia|June 27, 2022
Adrenal insufficiency among children treated with hormonal therapy for infantile spasmsGabrielle Doré-Brabant, Geneviève Laflamme, Maude Millette, et al.
Frontiers in Neurology|November 3, 2022
Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 casesSarah Alsubhi, Bradley Osterman, Nicolas Chrestian, et al.
Developmental Medicine and Child Neurology|September 28, 2016
Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart reviewCynthia Gagnon, Marie Kierkegaard, Catherine Blackburn, et al.
Frontiers in Neurology|July 2, 2021
A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline MyopathyNathalie Laflamme, Baiba Lace, Samarth Thonta Setty, et al.
Acta Neuropathologica|August 5, 2023
Decreased dystrophin expression and elevated dystrophin-targeting miRNAs in anti-HMGCR immune-mediated necrotizing myopathyMaude B Marmen, Zakaria Orfi, Junio Dort, et al.
Pageof 3

Showing results (1-10 of 24) with videos related to

Sort By:
Pageof 3
Neuromuscular Disorders : NMD|May 10, 2016
ResponseNicolas Chrestian, Jiri Vajsar
Journal of Child Neurology|April 14, 2020
The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the LiteratureVincent Picher-Martel, Francis Brunet, Nicolas Dupré, et al.
Nature Clinical Practice. Neurology|August 26, 2006
Myotonia congenita--a cause of muscle weakness and stiffnessNicolas Chrestian, Jack Puymirat, Jean-Pierre Bouchard, et al.
Neuromuscular Disorders : NMD|July 20, 2015
Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature updateNicolas Chrestian, Hugh McMillan, Chantal Poulin, et al.
BMC Neurology|February 17, 2020
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case reportVincent Picher-Martel, Yvan Labrie, Serge Rivest, et al.
Epilepsia|June 27, 2022
Adrenal insufficiency among children treated with hormonal therapy for infantile spasmsGabrielle Doré-Brabant, Geneviève Laflamme, Maude Millette, et al.
Frontiers in Neurology|November 3, 2022
Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 casesSarah Alsubhi, Bradley Osterman, Nicolas Chrestian, et al.
Developmental Medicine and Child Neurology|September 28, 2016
Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart reviewCynthia Gagnon, Marie Kierkegaard, Catherine Blackburn, et al.
Frontiers in Neurology|July 2, 2021
A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline MyopathyNathalie Laflamme, Baiba Lace, Samarth Thonta Setty, et al.
Acta Neuropathologica|August 5, 2023
Decreased dystrophin expression and elevated dystrophin-targeting miRNAs in anti-HMGCR immune-mediated necrotizing myopathyMaude B Marmen, Zakaria Orfi, Junio Dort, et al.
Pageof 3