Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review

Autor: Claudia Stendel, Matias Wagner, Thomas Klopstock, G. Rudolph

Publikováno v: Neuropediatrics 50(06), 382-386 (2019). doi:10.1055/s-0039-1693150

Variants in the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) gene have been recently identified as a cause of Gillespie's syndrome, a rare inherited condition characterized by bilateral iris hypoplasia, congenital muscle hypotonia, nonprogres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eb595c2c06b62809aab927692c4b959
https://pubmed.ncbi.nlm.nih.gov/31340402

Hypomorphic mutations in POLR_{3}A$ are a frequent cause of sporadic and recessive spastic ataxia

Autor: Ina Schmitt, Oliver Brüstle, Rajech Sharkia, Kristina Rehbach, Stefan Herms, Jennifer Reichbauer, Feifei Tao, Peter De Jonghe, Susanne Greschus, Garth A. Nicholson, Alfredo Ramirez, Stefanie Heilmann-Heimbach, Ludger Schöls, Michael E. Shy, Thomas Klockgether, Paolo Carloni, Holger Wagner, Dagmar Timmann, Claudia Stendel, Delia Kurzwelly, Marina L. Kennerson, Matthis Synofzik, Patrick F. Chinnery, Wolfgang Maier, Stephan Züchner, Peter Bauer, Angela Pyle, Tim W. Rattay, Michael Peitz, Katrin Amunts, Burcu Atasu, Rüdiger Stirnberg, Holger Hengel, Jonathan Baets, Shawna M. E. Feely, Jürgen Kohlhase, Holger Thiele, M. Lennarz, Janine Altmüller, Ilker Karaca, Katherine D. Mathews, Muhammad Mahanjah, Tobias Lindig, Johanna Jung, Alejandro Giorgetti, Rebecca Schüle, Ebba Lohmann, Marc Sturm, Michael Wolf, Rita Horvath, Thomas Klopstock, Michael A. Gonzalez, Martina Minnerop, Peter Nürnberg, Anne S. Soehn, Sandra Roeske

Publikováno v: Brain
Brain 140(6), 1561-1578 (2017). doi:10.1093/brain/awx095

Despite extensive efforts, half of patients with rare movement disorders such as hereditary spastic paraplegias and cerebellar ataxias remain genetically unexplained, implicating novel genes and unrecognized mutations in known genes. Non-coding DNA v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5b4967b5395f39db1a93672e9e798b
https://hdl.handle.net/10067/1426480151162165141

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Autor: Orr Shomroni, Marianna R. Bevova, Peter Heutink, María-Jesús Sobrido, Shu-Bing Qian, Conceição Bettencourt, I. Bakker, Marianna Bugiani, Justo García de Yébenes, Xingqian Zhang, Sasja Heetveld, Raquel Ros, Jose Lopez-Sendon, Shushant Jain, Patrizia Rizzu, Beatriz Quintáns

Publikováno v: Cerebellum, 14(3), 378-81. SPRINGER
Cerebellum, 14(3), 378-381. Springer New York
The Cerebellum 14(3), 378-381 (2015). doi:10.1007/s12311-014-0643-7
Bettencourt, C, Yebenes, J G, Lopez-Sendon, J L, Shomroni, O, Zhang, X Q, Qian, S B, Bakker, I M C, Heetveld, S, Ros, R, Quintans, B, Sobrido, M J, Bevova, M R, Jain, S, Bugiani, M, Heutink, P & Rizzu, P 2015, ' Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 ', Cerebellum, vol. 14, no. 3, pp. 378-381 . https://doi.org/10.1007/s12311-014-0643-7

Hereditary ataxias are clinically and genetically heterogeneous neurodegenerative disorders. Although many ataxia genes have been identified, about 50 % of cases await the identification of the genetic cause [1]. High-throughput sequencing, namely wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b079dc1170073cbab678ec415d02b4a2
https://research.rug.nl/en/publications/2558a28b-f70c-47d1-90e6-5f4bff568bdd