Literature DB >> 27653636

Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.

Timothy Feyma1, Keri Ramsey2, Matthew J Huentelman2,3, David W Craig2, Sergio Padilla-Lopez4,5, Vinodh Narayanan2,3, Michael C Kruer3,4,5.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 27653636      PMCID： PMC5380585          DOI： 10.1002/mds.26800

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


× No keyword cloud information.
  3 in total

1.  A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations.

Authors:  Tito Calì; Raffaele Lopreiato; Joshua Shimony; Marisa Vineyard; Martina Frizzarin; Ginevra Zanni; Giuseppe Zanotti; Marisa Brini; Marwan Shinawi; Ernesto Carafoli
Journal:  J Biol Chem       Date:  2015-05-07       Impact factor: 5.157

2.  Mutations in HPCA cause autosomal-recessive primary isolated dystonia.

Authors:  Gavin Charlesworth; Plamena R Angelova; Fernando Bartolomé-Robledo; Mina Ryten; Daniah Trabzuni; Maria Stamelou; Andrey Y Abramov; Kailash P Bhatia; Nicholas W Wood
Journal:  Am J Hum Genet       Date:  2015-03-19       Impact factor: 11.025

3.  Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.

Authors:  Ginevra Zanni; Tito Calì; Vera M Kalscheuer; Denis Ottolini; Sabina Barresi; Nicolas Lebrun; Luisa Montecchi-Palazzi; Hao Hu; Jamel Chelly; Enrico Bertini; Marisa Brini; Ernesto Carafoli
Journal:  Proc Natl Acad Sci U S A       Date:  2012-08-21       Impact factor: 11.205
  3 in total
  2 in total

1.  The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity.

Authors:  Francesca Vallese; Lorenzo Maso; Flavia Giamogante; Elena Poggio; Lucia Barazzuol; Andrea Salmaso; Raffaele Lopreiato; Laura Cendron; Lorella Navazio; Ginevra Zanni; Yvonne Weber; Tatjana Kovacevic-Preradovic; Boris Keren; Alessandra Torraco; Rosalba Carrozzo; Francesco Peretto; Caterina Peggion; Stefania Ferro; Oriano Marin; Giuseppe Zanotti; Tito Calì; Marisa Brini; Ernesto Carafoli
Journal:  Cell Death Dis       Date:  2022-10-07       Impact factor: 9.685

Review 2.  Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options.

Authors:  Malco Rossi; Bettina Balint; Patricio Millar Vernetti; Kailash P Bhatia; Marcelo Merello
Journal:  Mov Disord Clin Pract       Date:  2018-07-03
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.