Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Autosomal Recessive Hereditary Spastic Paraplegia"'
Akademický článek
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Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11
Autor:
Xueping Chen, Jiao Liu, Qian-Qian Wei, Ru Wei Ou, Bei Cao, Xiaoqin Yuan, Yanbing Hou, Lingyu Zhang, Huifang Shang
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-8 (2020)
Abstract Background Spastic paraplegia type 11 (SPG11) mutations are the most frequent cause of autosomal recessive hereditary spastic paraplegia (ARHSP). We are aiming to identify the causative mutations in SPG11 among families referred to our cente
Externí odkaz:
https://doaj.org/article/293bcac9329643879d83bbf9a1d98dec
Autor:
Marzieh Khani, Hosein Shamshiri, Farzad Fatehi, Mohammad Rohani, Bahram Haghi Ashtiani, Fahimeh Haji Akhoundi, Afagh Alavi, Hamidreza Moazzeni, Hanieh Taheri, Mina Tolou Ghani, Leila Javanparast, Seyyed Saleh Hashemi, Ramona Haji‐Seyed‐Javadi, Matineh Heidari, Shahriar Nafissi, Elahe Elahi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share some clinical presentations and both can be caused by SPG11 mutati
Externí odkaz:
https://doaj.org/article/17893aa063484e249714d0aee191d73f
Autor:
Kishin Koh, Hiroyuki Ishiura, Haruo Shimazaki, Michiko Tsutsumiuchi, Yuta Ichinose, Haitian Nan, Shun Hamada, Toshihisa Ohtsuka, Shoji Tsuji, Yoshihisa Takiyama
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background Alterations of vacuolar protein sorting‐associated protein 13 (VPS13) family members including VPS13A, VPS13B, and VPS13C lead to chorea acanthocytosis, Cohen syndrome, and parkinsonism, respectively. Recently, VPS13D mutations
Externí odkaz:
https://doaj.org/article/9a9f5423d0174287ad053d9e3b0da0d6
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Vinícius Boaratti Ciarlariello, Alzira Alves de Siqueira Carvalho, Izadora Fonseca Zaiden Soares, David Feder
Publikováno v:
Neurocase. 27:253-258
Spastic paraplegia type 7 (SPG7) is one of the most common forms of autosomal recessive hereditary spastic paraplegia, which can lead to a hybrid spastic-ataxic phenotype. Recently, novel complicated forms of SPG7, including cognitive and social impa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7ce1a945864d95a90c7172fa2f99081
https://doi.org/10.1080/13554794.2021.1927114
https://doi.org/10.1080/13554794.2021.1927114
Autosomal Recessive Hereditary Spastic Paraplegia: A Rare Case of a Family with Phenotypic Variation
Autor:
Tal Shachar, Mor Saban
Publikováno v:
Current Pharmacogenomics and Personalized Medicine. 17:211-215
Background: Hereditary spastic paraplegia is a neurodegenerative disorder with a pure and complex form. More than 50 genetic types are currently known, with different ages of onset for characteristic symptoms. Data regarding hereditary spastic parapl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dfc5fd3f7707cbb8f03399f83781d9fc
https://doi.org/10.2174/1875692117999201211142908
https://doi.org/10.2174/1875692117999201211142908
Autor:
Hamidreza Moazzeni, Hanieh Taheri, Seyyed Saleh Hashemi, Farzad Fatehi, Shahriar Nafissi, Mina Tolou Ghani, Elahe Elahi, Afagh Alavi, Fahimeh Haji Akhoundi, Leila Javanparast, Hosein Shamshiri, Ramona Haji-Seyed-Javadi, Marzieh Khani, Matineh Heidari, Mohammad Rohani, Bahram Haghi Ashtiani
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Background SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share some clinical presentations and both can be caused by SPG11 mutations, it w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8450f32b9b2e9e38a9dc4cb5d8a1b908
http://europepmc.org/articles/PMC7336765
http://europepmc.org/articles/PMC7336765
Autor:
Yang Xu, Li Wu, Qingxuan Lai, Qin Wang, Jian-Ren Liu, You-Rong Dong, Zhi-Ping Xie, Wei Chen, Ilya A. Vinnikov
Background: Spastic paraplegia type 55 (SPG55) is an autosomal recessive complicated hereditary spastic paraplegia. Here we report an SPG55 case with typical neurological phenotypes including optic atrophy, lower extremity spasticity and peripheral n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::736dd8a30ea2c62914781aa2d4abd63e
https://doi.org/10.21203/rs.3.rs-136140/v1
https://doi.org/10.21203/rs.3.rs-136140/v1
Autor:
Giorgio Arrigoni, James E. Tomkins, Federica Forcellato, Laura Civiero, Nikoleta Vavouraki, Patrick A. Lewis, Laura Cendron, Elisa Greggio, Isabella Tessari, Susanna Cogo, Cinzia Franchin, Claudia Manzoni
Mutations in SPG11, encoding spatacsin, constitute the major cause of autosomal recessive Hereditary Spastic Paraplegia (HSP) with thinning of the corpus callosum. Previous studies showed that spatacsin orchestrates cellular traffic events through th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e79da9413b2dd5b9309b1c1188b542c
https://doi.org/10.1101/2020.09.09.289009
https://doi.org/10.1101/2020.09.09.289009