Literature DB >> 27197992

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.

Inès Mademan1, Florian Harmuth2, Ilaria Giordano3, Dagmar Timmann4, Stefania Magri5, Tine Deconinck1, Jens Claaßen4, Daniel Jokisch4, Gencer Genc6, Daniela Di Bella5, Silvia Romito7, Rebecca Schüle8, Stephan Züchner9, Franco Taroni5, Thomas Klockgether3, Ludger Schöls8, Peter De Jonghe10, Peter Bauer2, Eoa Consortium, Jonathan Baets10, Matthis Synofzik11.   

Abstract

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Year:  2016        PMID: 27197992      PMCID: PMC4958896          DOI: 10.1093/brain/aww115

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


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  11 in total

1.  MutationTaster evaluates disease-causing potential of sequence alterations.

Authors:  Jana Marie Schwarz; Christian Rödelsperger; Markus Schuelke; Dominik Seelow
Journal:  Nat Methods       Date:  2010-08       Impact factor: 28.547

2.  Identification of deleterious mutations within three human genomes.

Authors:  Sung Chun; Justin C Fay
Journal:  Genome Res       Date:  2009-07-14       Impact factor: 9.043

3.  Detection of nonneutral substitution rates on mammalian phylogenies.

Authors:  Katherine S Pollard; Melissa J Hubisz; Kate R Rosenbloom; Adam Siepel
Journal:  Genome Res       Date:  2009-10-26       Impact factor: 9.043

4.  Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.

Authors:  Yuishin Izumi; Ryosuke Miyamoto; Hiroyuki Morino; Akio Yoshizawa; Kazuto Nishinaka; Fukashi Udaka; Masakuni Kameyama; Hirofumi Maruyama; Hideshi Kawakami
Journal:  Neurology       Date:  2013-01-16       Impact factor: 9.910

5.  PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.

Authors:  Matthis Synofzik; Michael A Gonzalez; Charles Marques Lourenco; Marie Coutelier; Tobias B Haack; Adriana Rebelo; Didier Hannequin; Tim M Strom; Holger Prokisch; Christoph Kernstock; Alexandra Durr; Ludger Schöls; Marcos M Lima-Martínez; Amjad Farooq; Rebecca Schüle; Giovanni Stevanin; Wilson Marques; Stephan Züchner
Journal:  Brain       Date:  2013-12-19       Impact factor: 13.501

6.  SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

Authors:  Matthis Synofzik; Katrien Smets; Martial Mallaret; Daniela Di Bella; Constanze Gallenmüller; Jonathan Baets; Martin Schulze; Stefania Magri; Elisa Sarto; Mona Mustafa; Tine Deconinck; Tobias Haack; Stephan Züchner; Michael Gonzalez; Dagmar Timmann; Claudia Stendel; Thomas Klopstock; Alexandra Durr; Christine Tranchant; Marc Sturm; Wahiba Hamza; Lorenzo Nanetti; Caterina Mariotti; Michel Koenig; Ludger Schöls; Rebecca Schüle; Peter de Jonghe; Mathieu Anheim; Franco Taroni; Peter Bauer
Journal:  Brain       Date:  2016-04-17       Impact factor: 13.501

7.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

8.  Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.

Authors:  Nicolas Dupré; François Gros-Louis; Nicolas Chrestian; Steve Verreault; Denis Brunet; Danielle de Verteuil; Bernard Brais; Jean-Pierre Bouchard; Guy A Rouleau
Journal:  Ann Neurol       Date:  2007-07       Impact factor: 10.422

9.  A general framework for estimating the relative pathogenicity of human genetic variants.

Authors:  Martin Kircher; Daniela M Witten; Preti Jain; Brian J O'Roak; Gregory M Cooper; Jay Shendure
Journal:  Nat Genet       Date:  2014-02-02       Impact factor: 38.330

10.  Fast and accurate short read alignment with Burrows-Wheeler transform.

Authors:  Heng Li; Richard Durbin
Journal:  Bioinformatics       Date:  2009-05-18       Impact factor: 6.937

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  13 in total

Review 1.  Ataxia.

Authors:  Sheng-Han Kuo
Journal:  Continuum (Minneap Minn)       Date:  2019-08

Review 2.  Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.

Authors:  Matthis Synofzik; Rebecca Schüle
Journal:  Mov Disord       Date:  2017-02-14       Impact factor: 10.338

3.  Multiple Isoforms of Nesprin1 Are Integral Components of Ciliary Rootlets.

Authors:  Chloe Potter; Wanqiu Zhu; David Razafsky; Philip Ruzycki; Alexander V Kolesnikov; Teresa Doggett; Vladimir J Kefalov; Ewelina Betleja; Moe R Mahjoub; Didier Hodzic
Journal:  Curr Biol       Date:  2017-06-15       Impact factor: 10.834

4.  The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells.

Authors:  C Potter; D Razafsky; D Wozniak; M Casey; S Penrose; X Ge; M R Mahjoub; D Hodzic
Journal:  Neurobiol Dis       Date:  2018-04-06       Impact factor: 5.996

5.  Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.

Authors:  Maria Thereza Drumond Gama; Pedro Braga-Neto; Livia Almeida Dutra; Helena Alessi; Lilia Alves Maria; Ary Araripe Gadelha; Bruno Bertolucci Ortiz; Ilda Kunii; Silvia Regina Correia-Silva; Magnus R Dias da Silva; Patrick A Dion; Guy A Rouleau; Marcondes Cavalcante França; Orlando G P Barsottini; José Luiz Pedroso
Journal:  Cerebellum       Date:  2019-08       Impact factor: 3.847

6.  SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.

Authors:  E Yucesan; Sibel A Ugur Iseri; B Bilgic; Z Gormez; B Bakir Gungor; A Sarac; O Ozdemir; M Sagiroglu; H Gurvit; H Hanagasi; U Ozbek
Journal:  Neurol Sci       Date:  2017-07-07       Impact factor: 3.307

7.  A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.

Authors:  Tsuneaki Yoshinaga; Katsuya Nakamura; Masumi Ishikawa; Tomomi Yamaguchi; Kyoko Takano; Keiko Wakui; Tomoki Kosho; Kunihiro Yoshida; Yoshimitsu Fukushima; Yoshiki Sekijima
Journal:  Hum Genome Var       Date:  2017-10-26

8.  Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.

Authors:  William Kristian Karlsson; Joan Lilja Sunnleyg Højgaard; Anna Vilhelmsen; Clarissa Crone; Birgit Andersen; Ian Law; Lisbeth Birk Møller; Troels Tolstrup Nielsen; Emilie Neerup Nielsen; Thomas Krag; Kirsten Svenstrup; Jørgen Erik Nielsen
Journal:  Cerebellum       Date:  2021-07-28       Impact factor: 3.847

9.  SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment.

Authors:  Lauren Swan; John Cardinal; David Coman
Journal:  Clin Pract       Date:  2018-08-27

10.  Syncrip/hnRNP Q is required for activity-induced Msp300/Nesprin-1 expression and new synapse formation.

Authors:  Joshua Titlow; Francesca Robertson; Aino Järvelin; David Ish-Horowicz; Carlas Smith; Enrico Gratton; Ilan Davis
Journal:  J Cell Biol       Date:  2020-03-02       Impact factor: 8.077

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