Literature DB >> 15286160

A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1.

P N Valdmanis, A A Simões Lopes, F Gros-Louis, J D Stewart, G A Rouleau, N Dupré.   

Abstract

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Year:  2004        PMID: 15286160      PMCID: PMC1735870          DOI: 10.1136/jmg.2004.019711

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  6 in total

1.  Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.

Authors:  Anjali M Rajadhyaksha; Olivier Elemento; Erik G Puffenberger; Kathryn C Schierberl; Jenny Z Xiang; Maria L Putorti; José Berciano; Chantal Poulin; Bernard Brais; Michel Michaelides; Richard G Weleber; Joseph J Higgins
Journal:  Am J Hum Genet       Date:  2010-11-12       Impact factor: 11.025

2.  RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement.

Authors:  Sien H Van Daele; Matthieu Moisse; Valérie Race; Amélie Van Eesbeeck; Liesbeth Keldermans; Sascha Vermeer; Hilde Van Esch; Kristl G Claeys; Philip Van Damme
Journal:  Eur J Neurol       Date:  2021-09-17       Impact factor: 6.288

Review 3.  The neural mechanisms of manual dexterity.

Authors:  Anton R Sobinov; Sliman J Bensmaia
Journal:  Nat Rev Neurosci       Date:  2021-10-28       Impact factor: 38.755

4.  Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic.

Authors:  Andrea Cortese; Ilaria Callegari; Riccardo Currò; Elisa Vegezzi; Silvia Colnaghi; Maurizio Versino; Enrico Alfonsi; Giuseppe Cosentino; Enzamaria Valente; Simone Gana; Cristina Tassorelli; Anna Pichiecchio; Alexander M Rossor; Enrico Bugiardini; Antonio Biroli; Daniela Di Capua; Henry Houlden; Mary M Reilly
Journal:  J Neurol Neurosurg Psychiatry       Date:  2020-09-17       Impact factor: 10.154

5.  Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Authors:  Matias Wagner; Daniel P S Osborn; Ina Gehweiler; Maike Nagel; Ulrike Ulmer; Somayeh Bakhtiari; Rim Amouri; Reza Boostani; Faycal Hentati; Maryam M Hockley; Benedikt Hölbling; Thomas Schwarzmayr; Ehsan Ghayoor Karimiani; Christoph Kernstock; Reza Maroofian; Wolfgang Müller-Felber; Ege Ozkan; Sergio Padilla-Lopez; Selina Reich; Jennifer Reichbauer; Hossein Darvish; Neda Shahmohammadibeni; Abbas Tafakhori; Katharina Vill; Stephan Zuchner; Michael C Kruer; Juliane Winkelmann; Yalda Jamshidi; Rebecca Schüle
Journal:  Nat Commun       Date:  2019-10-21       Impact factor: 14.919

6.  Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

Authors:  Gregory M Enns; Vandana Shashi; Matthew Bainbridge; Michael J Gambello; Farah R Zahir; Thomas Bast; Rebecca Crimian; Kelly Schoch; Julia Platt; Rachel Cox; Jonathan A Bernstein; Mena Scavina; Rhonda S Walter; Audrey Bibb; Melanie Jones; Madhuri Hegde; Brett H Graham; Anna C Need; Angelica Oviedo; Christian P Schaaf; Sean Boyle; Atul J Butte; Rui Chen; Rong Chen; Michael J Clark; Rajini Haraksingh; Tina M Cowan; Ping He; Sylvie Langlois; Huda Y Zoghbi; Michael Snyder; Richard A Gibbs; Hudson H Freeze; David B Goldstein
Journal:  Genet Med       Date:  2014-03-20       Impact factor: 8.822

  6 in total

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