Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Progressive cerebellar ataxia"'
Publikováno v:
Clinical Case Reports, Vol 10, Iss 8, Pp n/a-n/a (2022)
Abstract SQSTM1 gene encodes a protein called p62 that acts as an autophagy receptor in the degradation of protein molecules. A homozygous deletion variant that changes the frame shift in the SQSTM1 gene named c.790 Del A .T was detected in case chil
Externí odkaz:
https://doaj.org/article/eb7087e0c54a40adb9bca9b4297354f0
Publikováno v:
LymphoSign Journal. 7:57-60
Background: Ataxia telangiectasia typically presents in early pre-school years with progressive cerebellar ataxia and oculocutaneous telangiectasias. Referral to Immunology is often made after diagnosis has been established, as patients are prone to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08cc9e60f598f55d0401c81ac471d82d
https://doi.org/10.14785/lymphosign-2020-0004
https://doi.org/10.14785/lymphosign-2020-0004
Publikováno v:
Neurología (English Edition), Vol 36, Iss 4, Pp 334-336 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0a545417796085f2fdb4307c7fbca4b
http://www.sciencedirect.com/science/article/pii/S2173580821000328
http://www.sciencedirect.com/science/article/pii/S2173580821000328
Autor:
Antônio José da Rocha, José Luiz Pedroso, Marcos Vinicius Tadao Fujino, Orlando Graziani Povoas Barsottini, Marcio Dias de Almeida, Vinícius Boaratti Ciarlariello
Publikováno v:
Parkinsonism & Related Disorders. 72:72-74
This article reports a patient with acquired hepatocerebral degeneration that presented with progressive cerebellar ataxia, cerebellar atrophy, and middle cerebellar peduncle lesions. He had a marked improvement after liver transplantation. We reinfo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1436fa54db81f6186ab924bcb9449fb9
https://doi.org/10.1016/j.parkreldis.2020.02.011
https://doi.org/10.1016/j.parkreldis.2020.02.011
Publikováno v:
Journal of Neuroimmunology. 330:155-158
Anti-Homer-3 antibody associated cerebellar ataxia is a rare autoimmune cerebellar ataxia, which had been previously reported in 2 cases only. Here we present the third case where a middle-aged female experienced progressive cerebellar ataxia. A nove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5c2a6e2287ff2fb89d2875ae346b68e
https://doi.org/10.1016/j.jneuroim.2019.01.002
https://doi.org/10.1016/j.jneuroim.2019.01.002
Autor:
Takahiro Seki
Publikováno v:
Folia Pharmacologica Japonica. 154:310-314
Neurodegenerative diseases are caused by progressive degeneration of specific neurons. To overcome neurodegenerative diseases, the exploitation of preventive drugs is strongly expected, since impaired neurons are not regenerated by drugs. Spinocerebe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e125ab60640d95c3f5b423e466427f85
https://doi.org/10.1254/fpj.154.310
https://doi.org/10.1254/fpj.154.310
Autor:
Orlando Graziani Povoas Barsottini, Thiago Yoshinaga Tonholo Silva, José Luiz Pedroso, Caio R Quaio, Dineke Verbeek, Augusto Bragança Reis Rosa
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
Neurology. Genetics, 7(3):e581, 1-5. LIPPINCOTT WILLIAMS & WILKINS
article-version (Version of Record) 3
Neurology. Genetics, 7(3):e581, 1-5. LIPPINCOTT WILLIAMS & WILKINS
Spinocerebellar ataxias (SCAs) are a large group of genetically and phenotypically heterogeneous autosomal dominant, neurodegenerative disorders manifesting with progressive cerebellar ataxia usually with adult-onset.1 Currently, 48 subtypes of SCAs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9086c8c18c1dd9920b075c3ba09066ff
https://pubmed.ncbi.nlm.nih.gov/33884300
https://pubmed.ncbi.nlm.nih.gov/33884300
Autor:
Kazuhiro Iwama, Noriko Sumitomo, Kenji Kurosawa, Naomichi Matsumoto, Kenjiro Kosaki, Eri Takeshita, Takeshi Mizuguchi, Masayuki Sasaki, Yuko Shimizu-Motohashi
Publikováno v:
Dev Med Child Neurol
Developmental Medicine and Child Neurology
Developmental Medicine and Child Neurology
A heterogeneous spectrum of clinical manifestations caused by mutations in ATP1A3 have been previously described. Here we report two cases of infantile‐onset cerebellar ataxia, due to two different ATP1A3 variants. Both patients showed slowly progr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b70ac87b67194e191ef0f4ae6357f16c
https://pubmed.ncbi.nlm.nih.gov/35383898
https://pubmed.ncbi.nlm.nih.gov/35383898
Autor:
Takayoshi Shimohata, Akio Kimura, Yuichi Hayashi, Yuko Fukata, Takashi Inuzuka, Masaki Fukata, Nobuaki Yoshikura, Naoko Harada, Norihiko Yokoi
Publikováno v:
Journal of Neuroimmunology. 319:63-67
The clinical features of cerebellar ataxia associated with anti-metabotropic glutamate receptor 1 (mGluR1) autoantibodies, a rare autoimmune-mediated cerebellar ataxia, remain to be elucidated. Here, we describe a patient with non-paraneoplastic cere
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c6e1bb5ab52e26c7eb088524349b72
https://doi.org/10.1016/j.jneuroim.2018.04.001
https://doi.org/10.1016/j.jneuroim.2018.04.001
Publikováno v:
Multiple Sclerosis and Related Disorders. 31:148-150
A proportion of patients with the phenotype of complex genetic disorders carry dominantly inherited Mendelian traits, exemplified by hereditary spastic paraparesis influencing pyramidal symptoms in some MS cases. We here describe a mutable ATXN7 gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ac9a015a1da0d81be6d4de2c70de91a
https://doi.org/10.1016/j.msard.2019.04.009
https://doi.org/10.1016/j.msard.2019.04.009