Literature DB >> 27182963

Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16.

Toshitaka Kawarai1, Ryosuke Miyamoto1, Yoshimitsu Shimatani2, Antonio Orlacchio3, Ryuji Kaji1.   

Abstract

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Year:  2016        PMID： 27182963     DOI： 10.1001/jamaneurol.2016.0647

Source DB:  PubMed          Journal:  JAMA Neurol        ISSN： 2168-6149            Impact factor:   18.302


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  9 in total

Review 1.  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

2.  Neuronal Preconditioning Requires the Mitophagic Activity of C-terminus of HSC70-Interacting Protein.

Authors:  Britney N Lizama; Amy M Palubinsky; Vineeth A Raveendran; Annah M Moore; Joel D Federspiel; Simona G Codreanu; Daniel C Liebler; BethAnn McLaughlin
Journal:  J Neurosci       Date:  2018-06-22       Impact factor: 6.167

3.  Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16.

Authors:  José Gazulla; Silvia Izquierdo-Alvarez; Esther Sierra-Martínez; María Eugenia Marta-Moreno; Sara Alvarez
Journal:  Neurol Sci       Date:  2018-09-11       Impact factor: 3.307

4.  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 5.  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

6.  A role for cerebellum in the hereditary dystonia DYT1.

Authors:  Rachel Fremont; Ambika Tewari; Chantal Angueyra; Kamran Khodakhah
Journal:  Elife       Date:  2017-02-15       Impact factor: 8.140

7.  Changes in protein function underlie the disease spectrum in patients with CHIP mutations.

Authors:  Sabrina C Madrigal; Zipporah McNeil; Rebekah Sanchez-Hodge; Chang-He Shi; Cam Patterson; Kenneth Matthew Scaglione; Jonathan C Schisler
Journal:  J Biol Chem       Date:  2019-10-16       Impact factor: 5.157

8.  A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions.

Authors:  Marlen Colleen Reis; Julia Patrun; Nibal Ackl; Pia Winter; Maximilian Scheifele; Adrian Danek; Dagmar Nolte
Journal:  Front Mol Neurosci       Date:  2022-04-14       Impact factor: 5.639

Review 9.  C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.

Authors:  Sivakami Mylvaganam; Rebecca Earnshaw; Gregory Heymann; Suneil K Kalia; Lorraine V Kalia
Journal:  Curr Neuropharmacol       Date:  2021       Impact factor: 7.363
  9 in total

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