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Nicolas Chrestian

Clinical and genetic study of hereditary spastic paraplegia in Canada
2016 · Nicolas Chrestian, Nicolas Dupré, et al. · Neurology Genetics · 100
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Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
2007 · Nicolas Dupré, François Gros‐Louis, et al. · Annals of Neurology · 92
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians
2008 · Nicolas Dupré, Nicolas Chrestian, et al. · Neuromuscular Disorders · 55
The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature
2020 · Vincent Picher-Martel, Francis Brunet, et al. · Journal of Child Neurology · 40
Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34
2020 · Marie Beaudin, Leila Sellami, et al. · Neurology Genetics · 33
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Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update
2015 · Nicolas Chrestian, Hugh McMillan, et al. · Neuromuscular Disorders · 31
The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry
2020 · V. Hodgkinson, J. Lounsberry, et al. · Journal of Neuromuscular Diseases · 27
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Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in French Canadians
2020 · David Pellerin, Asli Aykanat, et al. · Annals of Neurology · 27
A National Spinal Muscular Atrophy Registry for Real-World Evidence
2020 · Victoria L. Hodgkinson, Maryam Oskoui, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 25
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A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians
2007 · E. Rossignol, J. Mathieu, et al. · Neurology · 22
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
2021 · Gabrielle Lemire, Yoko A. Ito, et al. · The American Journal of Human Genetics · 20
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Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review
2016 · Cynthia Gagnon, Marie Kierkegaard, et al. · Developmental Medicine & Child Neurology · 16
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Myotonia congenita—a cause of muscle weakness and stiffness
2006 · Nicolas Chrestian, Jack Puymirat, et al. · Nature Clinical Practice Neurology · 16
Case Report: Two Families With HPDL Related Neurodegeneration
2022 · Ieva Micule, Baiba Lace, et al. · Frontiers in Genetics · 14
A Novel Mutation in a Large French-Canadian Family with LGMD1B
2008 · Nicolas Chrestian, Paul N. Valdmanis, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 13
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Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study
2020 · E. Dermer, A. Spahr, et al. · Journal of Child Neurology · 12
A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy
2021 · Nathalie Laflamme, Baiba Lace, et al. · Frontiers in Neurology · 11
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Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
2020 · Vincent Picher-Martel, Yvan Labrie, et al. · BMC Neurology · 10
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A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy
2021 · Maitou Pal, Baiba Lace, et al. · JIMD Reports · 9
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Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity
2020 · Janis Stavusis, Ieva Micule, et al. · Neuromuscular Disorders · 8
Adrenal insufficiency among children treated with hormonal therapy for infantile spasms
2022 · Gabrielle Doré‐Brabant, Geneviève Laflamme, et al. · Epilepsia · 7
Equitable Access to Disease-Modifying Therapies for Canadian Children with SMA and Four SMN2 Copies
2024 · Hugh J. McMillan, Hernan Gonorazky, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 5
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Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases
2022 · Sarah Alsubhi, Bradley Osterman, et al. · Frontiers in Neurology · 5
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Ataxies, paraparésies spastiques et neuropathies héréditaires fréquentes dans l’Est du Canada
2008 · N. Dupré, N. Chrestian, et al. · Revue Neurologique · 4
G.P.18.08 Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
2007 · N. Dupre, F. Gros-Louis, et al. · Neuromuscular Disorders · 4
Works count: 67
Citation count: 616
H-index: 14
I10-index: 18
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