Literature DB >> 24928119

Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations.

Marta Cordoba1, Sergio Rodriguez-Quiroga1, Emilia Mabel Gatto1, Agustín Alurralde1, Marcelo Andrés Kauffman2.   

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Year:  2014        PMID： 24928119     DOI： 10.1212/WNL.0000000000000600

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  17 in total

1.  Regulation of autophagic flux by CHIP.

Authors:  Dongkai Guo; Zheng Ying; Hongfeng Wang; Dong Chen; Feng Gao; Haigang Ren; Guanghui Wang
Journal:  Neurosci Bull       Date:  2015-07-28       Impact factor: 5.203

2.  SKELETAL MUSCLE MITOCHONDRIAL ALTERATIONS IN CARBOXYL TERMINUS OF HSC70 INTERACTING PROTEIN (CHIP) -/- MICE.

Authors:  Jonathan C Schisler; Cam Patterson; Monte S Willis
Journal:  Afr J Cell Pathol       Date:  2016-04

Review 3.  Minireview: hey U(PS): metabolic and proteolytic homeostasis linked via AMPK and the ubiquitin proteasome system.

Authors:  Sarah M Ronnebaum; Cam Patterson; Jonathan C Schisler
Journal:  Mol Endocrinol       Date:  2014-08-06

4.  Amyloid Precursor Protein (APP) May Act as a Substrate and a Recognition Unit for CRL4CRBN and Stub1 E3 Ligases Facilitating Ubiquitination of Proteins Involved in Presynaptic Functions and Neurodegeneration.

Authors:  Dolores Del Prete; Richard C Rice; Anjali M Rajadhyaksha; Luciano D'Adamio
Journal:  J Biol Chem       Date:  2016-06-20       Impact factor: 5.157

Review 5.  Spinocerebellar ataxia type 48: last but not least.

Authors:  Giovanna De Michele; Daniele Galatolo; Melissa Barghigiani; Diletta Dello Iacovo; Rosanna Trovato; Alessandra Tessa; Elena Salvatore; Alessandro Filla; Giuseppe De Michele; Filippo M Santorelli
Journal:  Neurol Sci       Date:  2020-04-27       Impact factor: 3.307

6.  Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family.

Authors:  R Palvadeau; Z E Kaya-Güleç; G Şimşir; A Vural; Ö Öztop-Çakmak; G Genç; M S Aygün; O Falay; A Nazlı Başak; S Ertan
Journal:  Neurogenetics       Date:  2019-11-19       Impact factor: 2.660

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

Authors:  Conceição Bettencourt; Justo García de Yébenes; José Luis López-Sendón; Orr Shomroni; Xingqian Zhang; Shu-Bing Qian; Ingrid M C Bakker; Sasja Heetveld; Raquel Ros; Beatriz Quintáns; María-Jesús Sobrido; Marianna R Bevova; Shushant Jain; Marianna Bugiani; Peter Heutink; Patrizia Rizzu
Journal:  Cerebellum       Date:  2015-06       Impact factor: 3.847

8.  Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

Authors:  Sergio Alejandro Rodríguez-Quiroga; Marta Cordoba; Dolores González-Morón; Nancy Medina; Patricia Vega; Cecilia Vazquez Dusefante; Tomoko Arakaki; Nélida Susana Garretto; Marcelo Andres Kauffman
Journal:  Genet Res (Camb)       Date:  2015       Impact factor: 1.588

9.  Extending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia.

Authors:  Diana A Olszewska; Justin A Kinsella
Journal:  Mov Disord Clin Pract       Date:  2020-03-09

Review 10.  Myoclonus-Ataxia Syndromes: A Diagnostic Approach.

Authors:  Malco Rossi; Sterre van der Veen; Marcelo Merello; Marina A J Tijssen; Bart van de Warrenburg
Journal:  Mov Disord Clin Pract       Date:  2020-11-03
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