Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Ataxia telangiectasia-like disorder"'
Autor:
Agnieszka Bajek, Dominika Przewodowska, Dariusz Koziorowski, Maria Jędrzejowska, Stanisław Szlufik
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 is a mutation in the MRE11 gene (meiotic recombination 11 gene), which ca
Externí odkaz:
https://doaj.org/article/48380ccef5ea487aa4b7396baca367c0
Autor:
Pamela Federighi, Stefano Ramat, Francesca Rosini, Elena Pretegiani, Antonio Federico, Alessandra Rufa
Publikováno v:
Frontiers in Neurology, Vol 8 (2017)
ObjectiveTo investigate cerebellar dysfunctions and quantitatively characterize specific oculomotor changes in ataxia-telangiectasia-like disorder (ATLD), a rare autosomal recessive disease caused by mutations in the MRE11 gene. Additionally, to furt
Externí odkaz:
https://doaj.org/article/661061252abe4460b32572608291c963
Akademický článek
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Publikováno v:
Parkinsonism & Related Disorders. 74:22-24
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe5bb26a75b0f18e9df4b4b46052370e
https://doi.org/10.1016/j.parkreldis.2020.03.016
https://doi.org/10.1016/j.parkreldis.2020.03.016
Autor:
Alessandra Rufa, Antonio Federico, Stefano Ramat, Francesca Rosini, Pamela Federighi, Elena Pretegiani
Publikováno v:
Frontiers in Neurology
Frontiers in Neurology, Vol 8 (2017)
Frontiers in Neurology, Vol 8 (2017)
Objective: To investigate cerebellar dysfunctions and quantitatively characterize specific oculomotor changes in ataxia-telangiectasia-like disorder (ATLD), a rare autosomal recessive disease caused by mutations in the MRE11 gene. Additionally, to fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12cbc45546984226c95c111f68f245b8
http://europepmc.org/articles/PMC5684103
http://europepmc.org/articles/PMC5684103
Autor:
Yoshida, Takeshi, Awaya, Tomonari, Shibata, Minoru, Kato, Takeo, Numabe, Hironao, Kobayashi, Junya, Komatsu, Kenshi, Heike, Toshio
Publikováno v:
American journal of medical genetics. Part A. 164(7):1830-1834
Ataxia-telangiectasia-like disorder (ATLD) is a rare autosomal recessive disorder, and has symptoms similar to ataxia-telangiectasia (AT). ATLD is caused by mutations in the MRE11 gene, involved in DNA double-strand break repair (DSBR). In contrast t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=jairo_______::e3e09cff112394a86887ae59478f5ce8
http://hdl.handle.net/2433/188907
http://hdl.handle.net/2433/188907
Autor:
Antonio Federico, Maria Laura Stromillo, Emiliano Santarnecchi, Barbara Pucci, Silvia Palmeri, Nicola De Stefano, Alessandra Rufa, Francesca Rosini, Alessandro Malandrini, Marco Mandalà
Publikováno v:
The Cerebellum. 12:596-599
Ataxia-telangiectasia-like disorder (ATLD) due to mutations in the MRE11 gene is a very rare autosomal recessive disease, described so far in only 20 patients. Little is known about the onset of the first symptoms or the clinical course of the diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea7b55b59e3b7698471e2da7beab086b
https://doi.org/10.1007/s12311-013-0460-4
https://doi.org/10.1007/s12311-013-0460-4
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Thierry Billette de Villemeur, Lydie Burglen, Alice Fievet, Dominique Stoppa Lyonnet, Stéphanie Valence, Diana Rodriguez
Publikováno v:
European Journal of Paediatric Neurology. 21:e57-e58
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32cea40ba0aaf7e8fea0ea53c066ea5b
https://doi.org/10.1016/j.ejpn.2017.04.912
https://doi.org/10.1016/j.ejpn.2017.04.912
Publikováno v:
Revista de Neurología. 65:143
Ataxia-telangiectasia like: una adolescente portadora de una nueva variante del gen MRE11A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b09d259133e9a754ecca28c31e2db3b3
https://doi.org/10.33588/rn.6503.2016537
https://doi.org/10.33588/rn.6503.2016537