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Nicolas Chrestian
Nicolas Chrestian
Laval University
Verified email at chudequebec.ca
Title
Cited by
Cited by
Year
Clinical and genetic study of hereditary spastic paraplegia in Canada
N Chrestian, N Dupré, Z Gan-Or, A Szuto, S Chen, A Venkitachalam, ...
Neurology: Genetics 3 (1), e122, 2016
1082016
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
N Dupré, F Gros‐Louis, N Chrestian, S Verreault, D Brunet, D de Verteuil, ...
Annals of neurology 62 (1), 93-98, 2007
852007
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians
N Dupré, N Chrestian, JP Bouchard, E Rossignol, D Brunet, D Sternberg, ...
Neuromuscular Disorders 19 (5), 330-334, 2009
742009
Hereditary neuropathy with liability to pressure palsies
N Chrestian
592020
Hereditary neuropathy with liability to pressure palsies in childhood: case series and literature update
N Chrestian, H McMillan, C Poulin, C Campbell, J Vajsar
Neuromuscular Disorders 25 (9), 693-698, 2015
312015
The occurrence of FUS mutations in pediatric amyotrophic lateral sclerosis: a case report and review of the literature
V Picher-Martel, F Brunet, N Dupré, N Chrestian
Journal of child neurology 35 (8), 556-562, 2020
292020
Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34
M Beaudin, L Sellami, C Martel, L Touzel-Deschênes, G Houle, ...
Neurology: Genetics 6 (2), e403, 2020
252020
A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians
E Rossignol, J Mathieu, I Thiffault, M Tetreault, MJ Dicaire, N Chrestian, ...
Neurology 69 (20), 1937-1941, 2007
252007
Myotonia congenita—a cause of muscle weakness and stiffness
N Chrestian, J Puymirat, JP Bouchard, N Dupré
Nature Clinical Practice Neurology 2 (7), 393-399, 2006
232006
Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in French Canadians
D Pellerin, A Aykanat, B Ellezam, EC Troiano, J Karamchandani, ...
Annals of neurology 87 (4), 568-583, 2020
182020
Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review
C Gagnon, M Kierkegaard, C Blackburn, N Chrestian, M Lavoie, ...
Developmental Medicine & Child Neurology 59 (3), 291-296, 2017
182017
The Canadian neuromuscular disease registry 2010–2019: a decade of facilitating clinical research Througha Nationwide, Pan-NeuromuscularDisease Registry
V Hodgkinson, J Lounsberry, S M’Dahoma, A Russell, G Jewett, ...
Journal of neuromuscular diseases 8 (1), 53-61, 2021
172021
A novel mutation in a large French-Canadian family with LGMD1B
N Chrestian, PN Valdmanis, N Echahidi, D Brunet, JP Bouchard, P Gould, ...
Canadian journal of neurological sciences 35 (3), 331-334, 2008
162008
Oculopharyngeal muscular dystrophy
B Brais, N Chrestian, N Dupré, JP Bouchard, G Rouleau
Neuromuscular Disorders in Clinical Practice, 1277-1283, 2014
132014
A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy
M Pal, B Lace, Y Labrie, N Laflamme, N Rioux, ST Setty, MA Dugas, ...
JIMD reports 59 (1), 32-41, 2021
122021
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
G Lemire, YA Ito, AE Marshall, N Chrestian, V Stanley, L Brady, ...
The American Journal of Human Genetics 108 (10), 2017-2023, 2021
112021
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
V Picher-Martel, Y Labrie, S Rivest, B Lace, N Chrestian
BMC neurology 20, 1-6, 2020
112020
A national spinal muscular atrophy registry for real-world evidence
VL Hodgkinson, M Oskoui, J Lounsberry, S M’Dahoma, E Butler, ...
Canadian Journal of Neurological Sciences 47 (6), 810-815, 2020
112020
A homozygous deep intronic mutation alters the splicing of nebulin gene in a patient with nemaline myopathy
N Laflamme, B Lace, S Thonta Setty, N Rioux, Y Labrie, A Droit, ...
Frontiers in Neurology 12, 660113, 2021
82021
Stress in parents of children with genetically determined leukoencephalopathies: a pilot study
E Dermer, A Spahr, LT Tran, A Mirchi, F Pelletier, K Guerrero, S Ahmed, ...
Journal of child neurology 35 (13), 901-907, 2020
82020
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