Zobrazeno 1 - 10
of 48
pro vyhledávání: '"cerebellar cysts"'
Akademický článek
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Autor:
Laura, Powell, Eric, Olinger, Sarah, Wedderburn, Vijayalakshmi Salem, Ramakumaran, Usha, Kini, Jill, Clayton-Smith, Simon C, Ramsden, Sarah J, Rice, Miguel, Barroso-Gil, Ian, Wilson, Lorraine, Cowley, Sally, Johnson, Elizabeth, Harris, Tara, Montgomery, Marta, Bertoli, Eugen, Boltshauser, John A, Sayer
Publikováno v:
Brain Communications
Paediatric neurology syndromes are a broad and complex group of conditions with a large spectrum of clinical phenotypes. Joubert syndrome is a genetically heterogeneous neurological ciliopathy syndrome with molar tooth sign as the neuroimaging hallma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f73dfcfef91e4ec8be8f3f7a99094043
https://pubmed.ncbi.nlm.nih.gov/34423300
https://pubmed.ncbi.nlm.nih.gov/34423300
Akademický článek
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Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Submitted by Gestor HospitalBraga (bibliotecaria@hospitaldebraga.com.pt) on 2019-01-18T12:06:49Z No. of bitstreams: 1 Quintas-Neves-Soares-Fernandes2019.pdf: 2225248 bytes, checksum: 096084f2d79d1815789923d07fd202d5 (MD5) Approved for entry into arch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8bb54a7bd3601f90286db7dc567ef29
https://doi.org/10.1007/s00247-018-4326-2
https://doi.org/10.1007/s00247-018-4326-2
Publikováno v:
Pediatric Neurology. 98:91-92
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d2178d44cc2da43d06d24d308656d77
https://doi.org/10.1016/j.pediatrneurol.2019.02.021
https://doi.org/10.1016/j.pediatrneurol.2019.02.021
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
The Cerebellum. 14:308-316
Cerebellar cysts may be seen in selected genetic disorders and acquired anomalies. Here, we review our experience, excluding cystic tumors and parasitic cysts. The pathogenesis is heterogeneous: Cysts may involve/represent normal structures (e.g., Vi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82feda565d76e33b66c2fd1385e41598
https://doi.org/10.1007/s12311-014-0633-9
https://doi.org/10.1007/s12311-014-0633-9
Autor:
S. Akaboshi, Yoshihiro Maegaki, Eiji Nanba, Yuki Shinohara, Noriko Miyake, T. Hayashida, Tetsuya Okazaki, Naomichi Matsumoto, Kaori Adachi, Nobuhide Kasagi, Yoshiaki Saito
Publikováno v:
Clinical Genetics. 94:391-392
LAMB1 gene analysis should be considered for intellectually disabled patients with cerebellar cysts, white matter signal change, and cortical malformation. Muscular involvement is absent, in contrast to the α-dystroglycanopathy types of congenital m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4db1e0d9a25136dc069e72acc8452c21
https://doi.org/10.1111/cge.13378
https://doi.org/10.1111/cge.13378
Autor:
Bastian Baumgartner, Andrea Zonta, Marta Romani, Sarah Wente, Filippo M. Santorelli, Eugen Boltshauser, Ginevra Zanni, Romina Romaniello, Renato Borgatti, Enza Maria Valente, Gaetano Cantalupo, Andrea Klein, Martin Haeusler, Andrea Poretti, Arpad von Moers, Enrico Bertini, Tommaso Mazza, Andreas Ziegler, Alessia Micalizzi, Knut Brockmann, Dietz Rating, Eugenio Mercuri, Ana Camacho, Christiane Hikel, Giorgia Mandrile, Mareike Schimmel, Luigina Spaccini, Chiara Aiello, Monia Ginevrino, Serap Teber
Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). Clinical features compri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c9fb307e108589b80ef6f590bf7c174
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/89851
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/89851
Autor:
Elena Gusson, Enza Maria Valente, Gaetano Cantalupo, Andrea Poretti, Serena Pellegrin, Elena Piretti, Riccardo Masson
Poretti-Boltshauser syndrome (PBS) is a recently described cerebellar disorder characterized by cerebellar dysplasia with cysts and an enlarged and square-like shaped fourth ventricle.1 The clinical phenotype includes nonprogressive cerebellar ataxia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c31e55687669500cca1a24f39c85097
http://hdl.handle.net/11562/960894
http://hdl.handle.net/11562/960894