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Material Type: Artigo
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Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual DisabilityProtasova, Maria S ; Andreeva, Tatiana V ; Klyushnikov, Sergey A ; Illarioshkin, Sergey N ; Rogaev, Evgeny IInternational journal of molecular sciences, 2023-01, Vol.24 (2), p.1551 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with NeurodegenerationSancho, Paula ; Andrés-Bordería, Amparo ; Gorría-Redondo, Nerea ; Llano, Katia ; Martínez-Rubio, Dolores ; Yoldi-Petri, María Eugenia ; Blumkin, Luba ; Rodríguez de la Fuente, Pablo ; Gil-Ortiz, Fernando ; Fernández-Murga, Leonor ; Sánchez-Monteagudo, Ana ; Lupo, Vincenzo ; Pérez-Dueñas, Belén ; Espinós, Carmen ; Aguilera-Albesa, SergioInternational journal of molecular sciences, 2021-03, Vol.22 (5), p.2505 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G MutationsBarresi, Sabina ; Dentici, Maria Lisa ; Manzoni, Francesca ; Bellacchio, Emanuele ; Agolini, Emanuele ; Pizzi, Simone ; Ciolfi, Andrea ; Tarnopolsky, Mark ; Brady, Lauren ; Garone, Giacomo ; Novelli, Antonio ; Mei, Davide ; Guerrini, Renzo ; Capuano, Alessandro ; Pantaleoni, Chiara ; Tartaglia, MarcoPediatric neurology, 2020-03, Vol.104, p.40-45 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Ataxia, autism, and the cerebellum: a clinical study of 32 individuals with congenital ataxiaÅhsgren, Ingegerd ; Baldwin, Ingela ; Goetzinger-Falk, Christina ; Erikson, Anders ; Flodmark, Olof ; Gillberg, ChristopherDevelopmental medicine and child neurology, 2005-03, Vol.47 (3), p.193-198 [Periódico revisado por pares]Cambridge, UK: Cambridge University PressTexto completo disponível |
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Material Type: Artigo
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CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gaitTürkmen, Seval ; Guo, Gao ; Garshasbi, Masoud ; Hoffmann, Katrin ; Alshalah, Amjad J ; Mischung, Claudia ; Kuss, Andreas ; Humphrey, Nicholas ; Mundlos, Stefan ; Robinson, Peter N Barsh, Gregory S.PLoS genetics, 2009-05, Vol.5 (5), p.e1000487-e1000487 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Clinical phenotypes of infantile onset CACNA1A-related disorderGur-Hartman, Tamar ; Berkowitz, Oren ; Yosovich, Keren ; Roubertie, Agathe ; Zanni, Ginevra ; Macaya, Alfons ; Heimer, Gali ; Dueñas, Belén Pérez ; Sival, Deborah A. ; Pode-Shakked, Ben ; López-Laso, Eduardo ; Humbertclaude, Véronique ; Riant, Florence ; Bosco, Luca ; Cayron, Lital Bachar ; Nissenkorn, Andreea ; Nicita, Francesco ; Bertini, Enrico ; Hassin, Sharon ; Ben Zeev, Bruria ; Zerem, Ayelet ; Libzon, Stephanie ; Lev, Dorit ; Linder, Ilan ; Lerman-Sagie, Tally ; Blumkin, LubovEuropean journal of paediatric neurology, 2021-01, Vol.30, p.144-154 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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GRID2 mutations span from congenital to mild adult-onset cerebellar ataxiaCoutelier, Marie ; Burglen, Lydie ; Mundwiller, Emeline ; Abada-Bendib, Myriam ; Rodriguez, Diana ; Chantot-Bastaraud, Sandra ; Rougeot, Christelle ; Cournelle, Marie-Anne ; Milh, Mathieu ; Toutain, Annick ; Bacq, Delphine ; Meyer, Vincent ; Afenjar, Alexandra ; Deleuze, Jean-François ; Brice, Alexis ; Héron, Delphine ; Stevanin, Giovanni ; Durr, AlexandraNeurology, 2015-04, Vol.84 (17), p.1751-1759 [Periódico revisado por pares]United States: American Academy of NeurologyTexto completo disponível |
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Material Type: Artigo
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Gait Pattern in Inherited Cerebellar AtaxiasSerrao, Mariano ; Pierelli, Francesco ; Ranavolo, Alberto ; Draicchio, Francesco ; Conte, Carmela ; Don, Romildo ; Di Fabio, Roberto ; LeRose, Margherita ; Padua, Luca ; Sandrini, Giorgio ; Casali, CarloCerebellum (London, England), 2012-03, Vol.11 (1), p.194-211 [Periódico revisado por pares]New York: Springer-VerlagTexto completo disponível |
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Material Type: Artigo
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Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrityTumbale, Percy ; Williams, Jessica S ; Schellenberg, Matthew J ; Kunkel, Thomas A ; Williams, R ScottNature (London), 2014-02, Vol.506 (7486), p.111-115 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Autosomal recessive cerebellar ataxiasPalau, Francesc ; Espinós, CarmenOrphanet journal of rare diseases, 2006-11, Vol.1 (1), p.47-47, Article 47 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |