Zobrazeno 1 - 10 of 68 pro vyhledávání: '"N. Chrestian"'
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A.3 A novel recessive TNNT1 congenital core-rod myopathy in French Canadians
Autor: D Pellerin, A Aykanat, B Ellezam, EC Troiano, J Karamchandani, M Dicaire, M Petitclerc, R Robertson, X Allard-Chamard, D Brunet, CG Konersman, J Mathieu, J Warman Chardon, VA Gupta, AH Beggs, B Brais, N Chrestian
Publikováno v: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 49:S3-S3
Background: Mutations in the slow skeletal muscle troponin T (TNNT1) gene cause a congenital nemaline myopathy resulting in death from respiratory insufficiency in early infancy. We report on four French Canadians with a novel congenital TNNT1 myopat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::66e173a55a4c3ced7e82a44b5d97557b
https://doi.org/10.1017/cjn.2022.93
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A.4 A Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians
Autor: D Pellerin, A Aykanat, B Ellezam, EC Troiano, J Karamchandani, M Dicaire, M Petitclerc, R Robertson, X Allard-Chamard, D Brunet, CG Konersman, J Mathieu, J Warman Chardon, VA Gupta, AH Beggs, B Brais, N Chrestian
Publikováno v: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 48:S14-S15
Background: Mutations in the slow skeletal muscle troponin T (TNNT1) gene cause a congenital nemaline myopathy resulting in death from respiratory insufficiency in early infancy. We report on four French Canadians with a novel congenital TNNT1 myopat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ce22c99f5fb224461ab4d23890c4c7f2
https://doi.org/10.1017/cjn.2021.266
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P.131 Outcomes of Nusinersen in adult and pediatric cohorts of spinal muscular amyotrophy after two years of usage at the CHU de Québec-Université Laval
Autor: M Michel, N Chrestian, I Demers, N Déry, A Dionne, C Jobin, K Lepage, V Paquin, X Rodrigue
Publikováno v: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 48:S57-S57
Background: Nusinersen is approved for spinal muscular amyotrophy type I,II,III and is available for adult and pediatric populations since January 2019 at the CHU de Québec-UL. Methods: Patients who received at least one dose of nusinersen between J
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e9b3e45f6c0b93b0704e16674db716dd
https://doi.org/10.1017/cjn.2021.407
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P.097 Adrenal Insufficiency among Children treated with Hormonal Therapy for Infantile Spasms
Autor: G Doré-Brabant, G Laflamme, M Millette, B Osterman, N Chrestian
Publikováno v: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 48:S47-S47
Background: Hormonal therapy is a standard treatment for infantile spasms. The high doses given and long treatment duration expose patients to the risk of adrenal insufficiency (AI). This study aims to quantify the incidence of AI among children with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ad7ef04bcb231c71d77c54541092022f
https://doi.org/10.1017/cjn.2021.375
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P.028 A milder congenital myopathy in the french canadians caused by a novel TNNT1 homozygous missense mutation
Autor: D Pellerin, A Aykanat, B Ellezam, J Karamchandani, J Mathieu, J Warman Chardon, CG Konersman, AH Beggs, B Brais, N Chrestian
Publikováno v: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46:S21
Background: Mutations of the slow skeletal muscle troponin-T1 (TNNT1) gene are a rare cause of nemaline myopathy. The phenotype is characterized by severe amyotrophy and contractures. Death from respiratory insufficiency occurs in infancy. We report
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d586a107de7ab9b5f6aeec284d5b47a2
https://doi.org/10.1017/cjn.2019.128
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