Zobrazeno 1 - 10
of 728
pro vyhledávání: '"oculomotor apraxia"'
Publikováno v:
Open Life Sciences, Vol 18, Iss 1, Pp 813-25 (2023)
Joubert syndrome (JBTS) is a class of heterogeneous ciliopathy genetically associated with CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were analyzed in a 2-month-old patient. A 2-month-old patient with JBTS was
Externí odkaz:
https://doaj.org/article/bab5ce246de243cb808afe7c6a37aeb3
Autor:
Praseetha Kizhakkedath, Watfa AlDhaheri, Ibrahim Baydoun, Mohammed Tabouni, Anne John, Taleb M. Almansoori, Saeed Al-Turki, Fatma Al-Jasmi, Hiba Alblooshi
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Birk–Landau–Perez syndrome (BILAPES) is an autosomal recessive cerebro-renal syndrome associated with genetic defects in the SLC30A9 gene, initially reported in 2017 in six individuals belonging to a large Bedouin kindred. The SLC30A9 gene encode
Externí odkaz:
https://doaj.org/article/3b607ce3803d4c6986d6c351815734d7
Akademický článek
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Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Ataxia with oculomotor apraxia type 1 (AOA1) is a rare genetic disorder and is inherited in an autosomal recessive manner. It is mainly characterized by childhood-onset progressive cerebellar ataxia, with dysarthria and gait disturbance being the two
Externí odkaz:
https://doaj.org/article/78498275e14b45aba444f0074f74c67f
Autor:
Shuaishuai Chen, Juping Du, Huihua Jiang, Weibo Zhao, Na Wang, Anna Ying, Jun Li, Shiyong Chen, Bo Shen, Yuanlin Zhou
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
ObjectivesAutosomal recessive inherited ataxia with oculomotor apraxia type 2 (AOA2), caused by SETX gene mutations, is characterized by early-onset, progressive cerebellar ataxia, peripheral neuropathy, oculomotor apraxia and elevated serum α-fetop
Externí odkaz:
https://doaj.org/article/abe5c1fe3b2e40e483c47f3347b39964
Autor:
Ludwig Kraus, Olympia Kremmyda, Tatiana Bremova-Ertl, Sebastià Barceló, Katharina Feil, Michael Strupp
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Abstract Background Recently an increasing number of digital tools to aid clinical work have been published. This study’s aim was to create an algorithm which can assist physicians as a “digital expert” with the differential diagnosis of centra
Externí odkaz:
https://doaj.org/article/b5308373860d451fa5d66390641ad357
Autor:
Rosa Campopiano, Rosangela Ferese, Fabio Buttari, Cinzia Femiano, Diego Centonze, Francesco Fornai, Francesca Biagioni, Maria Antonietta Chiaravalloti, Mauro Magnani, Emiliano Giardina, Anna Ruzzo, Stefano Gambardella
Publikováno v:
Frontiers in Neurology, Vol 10 (2020)
Ataxia with oculomotor apraxia (AOA) is a clinical syndrome featuring a group of genetic diseases including at least four separate autosomal-recessive cerebellar ataxias. All these disorders are due to altered genes involved in DNA repair. AOA type 4
Externí odkaz:
https://doaj.org/article/173c0437216b40b7b3bccdf523f93bf4
Publikováno v:
Brain Sciences, Vol 12, Iss 2, p 173 (2022)
Ataxia with oculomotor apraxia type 2 (AOA2), also known as autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 (SCAN2) (OMIM #606002), is a neurodegenerative disorder characterized by early-onset progressive cerebellar ataxia, polyne
Externí odkaz:
https://doaj.org/article/76281ecfa1b343ddbe59c5e5425a4b3c
Akademický článek
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Autor:
Katsumi Hayakawa, Hirotomo Saitsu, Hiroko Matsushita, Takuya Hiraide, Sozo Okano, Mitsuhiro Kato, Mitsuko Nakashima
Publikováno v:
Brain and Development. 44:161-165
Background Ciliopathies are the outcomes of defects of primary cilia structures and functions which cause multisystemic developmental disorders, such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, Joubert syndrome (JS), and JS-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c027a1854a2e077406d573caf5966a4
https://doi.org/10.1016/j.braindev.2021.10.004
https://doi.org/10.1016/j.braindev.2021.10.004