Zobrazeno 1 - 10
of 514
pro vyhledávání: '"Charlevoix"'
Autor:
Claude Verreault
La langue de Charlevoix et du Saguenay–Lac-Saint-Jean : un français qui a du caractère est un ouvrage qui s'appuie sur la linguistique et sur les méthodes de la lexicographie moderne, tout en restant accessible au grand public. La première par
Publikováno v:
Heliyon, Vol 10, Iss 12, Pp e33046- (2024)
We present a case study of an 8-year-old girl with autosomal recessive spastic ataxia of Charlevoix-Saguenay, who experienced gait imbalance since the age of two. Magnetic resonance imaging of the brain and whole spine, as well as electroencephalogra
Externí odkaz:
https://doaj.org/article/e87d318fd04e4d01ae438a7752601626
Autor:
Daniele Galatolo, Silvia Rocchiccioli, Nicoletta Di Giorgi, Flavio Dal Canto, Giovanni Signore, Federica Morani, Elisa Ceccherini, Stefano Doccini, Filippo Maria Santorelli
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
IntroductionAutosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare incurable neurodegenerative disease caused by mutations in the SACS gene, which codes for sacsin, a large protein involved in protein homeostasis, mitochondrial
Externí odkaz:
https://doaj.org/article/b3f9d6025b1443dbb0af7a0a70363fb0
Autor:
Jean des Gagniers
I'm especially fond of Charlevoix—one of the favourite haunts of my youth. By walking through this region from one hilltop to the next I realized just how vast the St. Lawrence was. I would gaze at its salty waters and the fine line of the horizon,
Autor:
Bergeron, Gaston (aut.)
« Vous êtes en vacances au Saguenay–Lac-Saint-Jean et quelqu'un vous traite de gigon? Ne le remerciez pas, c'est une insulte. » Daniel Chrétien, L'Actualité, le 15 septembre 2017
Akademický článek
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Autor:
G. Guenther, L.L.F. Lagunes, P.Z. Alaniz, M.C.B. Woehrlen, D.J.D-O. de Montellano, C.M.C. Zapata, M.Á.R. García, C.M. Garay, K. Carrillo-Sánchez, M.J. Olivares, A.M. Rivas, B.E.V. Torres, D.G. Saldaña, E.A.G. Latorre, C.A. Verson
Publikováno v:
Neurology Perspectives, Vol 2, Iss 4, Pp 214-223 (2022)
Introduction and objectives: Spinocerebellar ataxia autosomal recessive (SCAR) represents a heterogeneous chronic and progressive neurological diseases group. They usually occur at an early age in a progressive manner. Diagnosis is complex due to phe
Externí odkaz:
https://doaj.org/article/1230ca0eefc544e9afb510ddab0acf8f
Autor:
Brenda Toscano Márquez, Tsz Chui Sophia Leung, Jeanette Hui, François Charron, R. Anne McKinney, Alanna J. Watt
Publikováno v:
Neurobiology of Disease, Vol 183, Iss , Pp 106157- (2023)
Mitochondrial deficits have been observed in animal models of Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and in patient-derived fibroblasts. We investigated whether mitochondrial function could be restored in Sacs−/− mice,
Externí odkaz:
https://doaj.org/article/028672de4760470a8af518d9fa8da142