Literature DB >> 28179632

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

Bart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl Aap Willemsen, Hans Scheffer, Erik-Jan Kamsteeg.   

Abstract

Entities:  

Year:  2017        PMID： 28179632      PMCID： PMC5315505          DOI： 10.1038/ejhg.2016.168

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  4 in total

Review 1.  SPG8 mutations in Italian families: clinical data and literature review.

Authors:  Federica Ginanneschi; Angelica D'Amore; Melissa Barghigiani; Alessandra Tessa; Alessandro Rossi; Filippo Maria Santorelli
Journal:  Neurol Sci       Date:  2019-12-09       Impact factor: 3.307

Review 2.  Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.

Authors:  Gerald Pfeffer; Grace Lee; Carly S Pontifex; Roberto D Fanganiello; Allison Peck; Conrad C Weihl; Virginia Kimonis
Journal:  Genes (Basel)       Date:  2022-05-27       Impact factor: 4.141

3.  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

Review 4.  Molecular genetic testing for hereditary ataxia: What every neurologist should know.

Authors:  Stephanie E Wallace; Thomas D Bird
Journal:  Neurol Clin Pract       Date:  2018-02
  4 in total

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