Literature DB >> 23123642

The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits.

James C Stevens, Sinéad M Murphy, Indran Davagnanam, Rahul Phadke, Glenn Anderson, Suran Nethisinghe, Fion Bremner, Paola Giunti, Mary M Reilly.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 23123642     DOI： 10.1136/jnnp-2012-303634

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


× No keyword cloud information.
  9 in total

Review 1.  Inherited neuropathies: an update.

Authors:  Anna Sagnelli; Giuseppe Piscosquito; Davide Pareyson
Journal:  J Neurol       Date:  2013-09-24       Impact factor: 4.849

Review 2.  Ataxia.

Authors:  Umar Akbar; Tetsuo Ashizawa
Journal:  Neurol Clin       Date:  2015-02       Impact factor: 3.806

Review 3.  A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.

Authors:  Georgia Xiromerisiou; Katerina Dadouli; Chrysoula Marogianni; Antonios Provatas; Panagiotis Ntellas; Dimitrios Rikos; Pantelis Stathis; Despina Georgouli; Gedeon Loules; Maria Zamanakou; Georgios M Hadjigeorgiou
Journal:  J Mol Neurosci       Date:  2019-11-07       Impact factor: 3.444

4.  Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Authors:  Qiang Lu; Liang Shang; Wo Tu Tian; Li Cao; Xue Zhang; Qing Liu
Journal:  Ann Transl Med       Date:  2020-01

5.  Progressive myoclonus epilepsy associated with SACS gene mutations.

Authors:  Fábio A Nascimento; Laura Canafoglia; Danah Aljaafari; Mikko Muona; Anna-Elina Lehesjoki; Samuel F Berkovic; Silvana Franceschetti; Danielle M Andrade
Journal:  Neurol Genet       Date:  2016-06-23

Review 6.  Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.

Authors:  Marjolaine Tremblay; Laura Girard-Côté; Bernard Brais; Cynthia Gagnon
Journal:  Orphanet J Rare Dis       Date:  2022-10-01       Impact factor: 4.303

Review 7.  Movement Disorders in Genetic Pediatric Ataxias.

Authors:  Simone Gana; Enza Maria Valente
Journal:  Mov Disord Clin Pract       Date:  2020-04-06

Review 8.  J protein mutations and resulting proteostasis collapse.

Authors:  Carolina Koutras; Janice E A Braun
Journal:  Front Cell Neurosci       Date:  2014-07-08       Impact factor: 5.505

9.  Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments.

Authors:  Fernanda Murtinheira; Mafalda Migueis; Ricardo Letra-Vilela; Mickael Diallo; Andrea Quezada; Cláudia A Valente; Abel Oliva; Carmen Rodriguez; Vanesa Martin; Federico Herrera
Journal:  Cells       Date:  2022-01-16       Impact factor: 6.600
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.