Literature DB >> 30206723

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

José Gazulla1, Silvia Izquierdo-Alvarez2, Esther Sierra-Martínez3, María Eugenia Marta-Moreno3, Sara Alvarez4.   

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Year:  2018        PMID： 30206723     DOI： 10.1007/s10072-018-3545-5

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  8 in total

1.  Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.

Authors:  Chang-He Shi; Jonathan C Schisler; Carrie E Rubel; Song Tan; Bo Song; Holly McDonough; Lei Xu; Andrea L Portbury; Cheng-Yuan Mao; Cadence True; Rui-Hao Wang; Qing-Zhi Wang; Shi-Lei Sun; Stephanie B Seminara; Cam Patterson; Yu-Ming Xu
Journal:  Hum Mol Genet       Date:  2013-10-09       Impact factor: 6.150

2.  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

3.  The Global Deterioration Scale for assessment of primary degenerative dementia.

Authors:  B Reisberg; S H Ferris; M J de Leon; T Crook
Journal:  Am J Psychiatry       Date:  1982-09       Impact factor: 18.112

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

Authors:  Toshitaka Kawarai; Ryosuke Miyamoto; Yoshimitsu Shimatani; Antonio Orlacchio; Ryuji Kaji
Journal:  JAMA Neurol       Date:  2016-07-01       Impact factor: 18.302

5.  Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.

Authors:  Matthis Synofzik; Rebecca Schüle; Martin Schulze; Janina Gburek-Augustat; Roland Schweizer; Anja Schirmacher; Ingeborg Krägeloh-Mann; Michael Gonzalez; Peter Young; Stephan Züchner; Ludger Schöls; Peter Bauer
Journal:  Orphanet J Rare Dis       Date:  2014-04-17       Impact factor: 4.123

6.  STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.

Authors:  Ketil Heimdal; Monica Sanchez-Guixé; Ingvild Aukrust; Jens Bollerslev; Ove Bruland; Greg Eigner Jablonski; Anne Kjersti Erichsen; Einar Gude; Jeanette A Koht; Sigrid Erdal; Torunn Fiskerstrand; Bjørn Ivar Haukanes; Helge Boman; Lise Bjørkhaug; Chantal M E Tallaksen; Per M Knappskog; Stefan Johansson
Journal:  Orphanet J Rare Dis       Date:  2014-09-26       Impact factor: 4.123

Review 7.  Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias.

Authors:  Sarah M Ronnebaum; Cam Patterson; Jonathan C Schisler
Journal:  Hum Genome Var       Date:  2014-10-23

8.  In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.

Authors:  Yasaman Pakdaman; Monica Sanchez-Guixé; Rune Kleppe; Sigrid Erdal; Helene J Bustad; Lise Bjørkhaug; Kristoffer Haugarvoll; Charalampos Tzoulis; Ketil Heimdal; Per M Knappskog; Stefan Johansson; Ingvild Aukrust
Journal:  Biosci Rep       Date:  2017-04-28       Impact factor: 3.840
  8 in total
  9 in total

1.  Spinocerebellar ataxia type 48: last but not least.

Authors:  Giuseppe De Michele; Filippo Santorelli
Journal:  Neurol Sci       Date:  2020-10-13       Impact factor: 3.307

2.  Spinocerebellar ataxia type 48: last but not least.

Authors:  José Gazulla
Journal:  Neurol Sci       Date:  2020-10-29       Impact factor: 3.307

Review 3.  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

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

5.  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

Review 6.  CHIP as a therapeutic target for neurological diseases.

Authors:  Shuo Zhang; Zheng-Wei Hu; Cheng-Yuan Mao; Chang-He Shi; Yu-Ming Xu
Journal:  Cell Death Dis       Date:  2020-09-09       Impact factor: 8.469

7.  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

8.  Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.

Authors:  Min-Yu Lan; Chin-Song Lu; Shey-Lin Wu; Ying-Fa Chen; Yueh-Feng Sung; Min-Chien Tu; Yung-Yee Chang
Journal:  Front Neurol       Date:  2022-09-30       Impact factor: 4.086

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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