Zobrazeno 1 - 10
of 424
pro vyhledávání: '"Familial amyotrophic lateral sclerosis"'
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
We observed a Polish family with familial amyotrophic lateral sclerosis with heterozygous L144S SOD1 mutation, which manifested clinically as flail leg syndrome. Flail leg syndrome is a rare phenotype of amyotrophic lateral sclerosis, with slow progr
Externí odkaz:
https://doaj.org/article/9fbfdc5a422447d99cc4f392f9dfc553
Autor:
Ren-Shi Xu, Min Yuan
Publikováno v:
Neural Regeneration Research, Vol 16, Iss 9, Pp 1723-1729 (2021)
The concept, definition, and diagnosis of amyotrophic lateral sclerosis (ALS) currently present some problems. This article systematically reviews the literature on the history, current concepts, definition, and diagnosis of ALS, and discloses the pr
Externí odkaz:
https://doaj.org/article/5e8022c88f414afca6c1e4fa100793d1
Akademický článek
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Publikováno v:
Neurobiology of Disease, Vol 121, Iss , Pp 131-137 (2019)
Mutations in Cu/Zn superoxide dismutase (SOD1) are the cause of ~20% of cases of familial ALS (FALS), which comprise ~10% of the overall total number of cases of ALS. Mutant (mt) SOD1 is thought to cause FALS through a gain and not loss in function,
Externí odkaz:
https://doaj.org/article/c65321c43b9f4921a69dda67a3e2fae4
Akademický článek
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Autor:
Ghanashyam D. Ghadge, Yoshifumi Sonobe, Adrian Camarena, Claire Drigotas, Frank Rigo, Karen K. Ling, Raymond P. Roos
Publikováno v:
Neurobiology of Disease, Vol 136, Iss , Pp 104702- (2020)
Mutations in Cu/Zn superoxide dismutase (SOD1) cause ~20% of familial ALS (FALS), which comprises 10% of total ALS cases. In mutant SOD1- (mtSOD1-) induced ALS, misfolded aggregates of SOD1 lead to activation of the unfolded protein response/integrat
Externí odkaz:
https://doaj.org/article/ea15c34928cf4bd1bff61eda9b496542
Autor:
Nazlı Gamze Bülbül, Yaprak Seçil, Nazlı Başak, Yeşim Beckmann, Hatice Sabiha Türe, Ceren Tunca, Aslıhan Özoğuz
Publikováno v:
Türk Nöroloji Dergisi, Vol 24, Iss 2, Pp 159-164 (2018)
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects both upper and lower motor neurons and its etiology is not fully understood. The incidence of ALS is 2-3/100,000 people in the world. Although ALS occurs sporadica
Externí odkaz:
https://doaj.org/article/beff49f0e3be4d138637cacd4864079e
Autor:
Cecilia Garcia, Jose Manuel Vidal-Taboada, Enrique Syriani, Maria Salvado, Miguel Morales, Josep Gamez
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Despite the genetic heterogeneity reported in familial amyotrophic lateral sclerosis (ALS) (fALS), Cu/Zn superoxide-dismutase (SOD1) gene mutations are the second most common cause of the disease, accounting for around 20% of all families (ALS1) and
Externí odkaz:
https://doaj.org/article/d9e8f0d81bab46739e829c745689151b
Autor:
Kimiko Inoue, Harutoshi Fujimura, Keiko Toyooka, Makito Hirano, Yusaku Nakamura, Saburo Sakoda
Publikováno v:
Cogent Medicine, Vol 5, Iss 1 (2018)
We described an autopsied case of amyotrophic lateral sclerosis (ALS)-dementia with p.R487H mutation in the VCP gene. TDP-43-positive neuronal cytoplasmic inclusions (NCI), neuronal intranuclear inclusions (NII) and glial cytoplasmic inclusions were
Externí odkaz:
https://doaj.org/article/6898ec912512456fab89b318e08cc3bd
Autor:
Margarita Gerou, Benjamin A. Hall, Scott P. Allen, Kathrin Meyer, Pamela J. Shaw, Ryan Woof, Jessica Allsop, Stephen J. Kolb
Publikováno v:
Neurobiology of Aging
Highlights • Aging affects the metabolic profile of fibroblasts derived from ALS cases • Increased NADH metabolism with age is observed in the presence of a specific set of catabolic energy substrates in healthy individuals • Reduced NADH metab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa322bad33369b41380c3947538e1343
http://europepmc.org/articles/PMC8346650
http://europepmc.org/articles/PMC8346650