Zobrazeno 1 - 10
of 727
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
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
Akademický článek
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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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Akademický článek
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