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 | 112 | 2016 |
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 | 88 | 2007 |
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 | 78 | 2009 |
Hereditary neuropathy with liability to pressure palsies N Chrestian | 65 | 2020 |
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 | 33 | 2020 |
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 | 33 | 2015 |
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 | 27 | 2020 |
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 | 25 | 2007 |
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 | 23 | 2006 |
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 | 19 | 2021 |
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 | 18 | 2020 |
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 | 18 | 2017 |
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 | 16 | 2008 |
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 | 15 | 2021 |
Oculopharyngeal muscular dystrophy B Brais, N Chrestian, N Dupré, JP Bouchard, G Rouleau Neuromuscular Disorders in Clinical Practice, 1277-1283, 2014 | 13 | 2014 |
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 | 12 | 2021 |
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 | 12 | 2020 |
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 | 11 | 2020 |
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 | 8 | 2021 |
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 | 7 | 2020 |