Literature DB >> 29741613

Lysosomal storage disorder gene variants in multiple system atrophy.

Lasse Pihlstrøm1,2,3, Lucia Schottlaender1,2,4, Viorica Chelban1,2,5, Wassilios G Meissner6, Monica Federoff7, Andy Singleton7, Henry Houlden1,2.   

Abstract

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Year:  2018        PMID： 29741613      PMCID： PMC6057515          DOI： 10.1093/brain/awy124

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


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  13 in total

1.  Optimal tests for rare variant effects in sequencing association studies.

Authors:  Seunggeun Lee; Michael C Wu; Xihong Lin
Journal:  Biostatistics       Date:  2012-06-14       Impact factor: 5.899

2.  Activation and alteration of lysosomes in multiple system atrophy.

Authors:  Kouki Makioka; Tsuneo Yamazaki; Masamitsu Takatama; Yoichi Nakazato; Koichi Okamoto
Journal:  Neuroreport       Date:  2012-03-28       Impact factor: 1.837

3.  Mutations in COQ2 in familial and sporadic multiple-system atrophy.

Authors: 
Journal:  N Engl J Med       Date:  2013-06-12       Impact factor: 91.245

4.  Second consensus statement on the diagnosis of multiple system atrophy.

Authors:  S Gilman; G K Wenning; P A Low; D J Brooks; C J Mathias; J Q Trojanowski; N W Wood; C Colosimo; A Dürr; C J Fowler; H Kaufmann; T Klockgether; A Lees; W Poewe; N Quinn; T Revesz; D Robertson; P Sandroni; K Seppi; M Vidailhet
Journal:  Neurology       Date:  2008-08-26       Impact factor: 9.910

5.  Frequency of GBA variants in autopsy-proven multiple system atrophy.

Authors:  Miriam Sklerov; Un Jung Kang; Christopher Liong; Lorraine Clark; Karen Marder; Michael Pauciulo; William C Nichols; Wendy K Chung; Lawrence S Honig; Etty Cortes; Jean Paul Vonsattel; Roy N Alcalay
Journal:  Mov Disord Clin Pract       Date:  2017-04-03

Review 6.  Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders.

Authors:  Sonja W Scholz; Jose Bras
Journal:  Int J Mol Sci       Date:  2015-10-16       Impact factor: 5.923

7.  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

8.  Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy.

Authors:  Ammar Al-Chalabi; Alexandra Dürr; Nicholas W Wood; Michael H Parkinson; Agnes Camuzat; Jean-Sébastien Hulot; Karen E Morrison; Alan Renton; Sigurd D Sussmuth; Bernhard G Landwehrmeyer; Albert Ludolph; Yves Agid; Alexis Brice; P Nigel Leigh; Gilbert Bensimon
Journal:  PLoS One       Date:  2009-09-22       Impact factor: 3.240

9.  SNCA variants are associated with increased risk for multiple system atrophy.

Authors:  Sonja W Scholz; Henry Houlden; Claudia Schulte; Manu Sharma; Abi Li; Daniela Berg; Anna Melchers; Reema Paudel; J Raphael Gibbs; Javier Simon-Sanchez; Coro Paisan-Ruiz; Jose Bras; Jinhui Ding; Honglei Chen; Bryan J Traynor; Sampath Arepalli; Ryan R Zonozi; Tamas Revesz; Janice Holton; Nick Wood; Andrew Lees; Wolfgang Oertel; Ullrich Wüllner; Stefano Goldwurm; Maria Teresa Pellecchia; Thomas Illig; Olaf Riess; Hubert H Fernandez; Ramon L Rodriguez; Michael S Okun; Werner Poewe; Gregor K Wenning; John A Hardy; Andrew B Singleton; Francesca Del Sorbo; Susanne Schneider; Kailash P Bhatia; Thomas Gasser
Journal:  Ann Neurol       Date:  2009-05       Impact factor: 10.422

10.  A genome-wide association study in multiple system atrophy.

Authors:  Anna Sailer; Sonja W Scholz; Michael A Nalls; Claudia Schulte; Monica Federoff; T Ryan Price; Andrew Lees; Owen A Ross; Dennis W Dickson; Kin Mok; Niccolo E Mencacci; Lucia Schottlaender; Viorica Chelban; Helen Ling; Sean S O'Sullivan; Nicholas W Wood; Bryan J Traynor; Luigi Ferrucci; Howard J Federoff; Timothy R Mhyre; Huw R Morris; Günther Deuschl; Niall Quinn; Hakan Widner; Alberto Albanese; Jon Infante; Kailash P Bhatia; Werner Poewe; Wolfgang Oertel; Günter U Höglinger; Ullrich Wüllner; Stefano Goldwurm; Maria Teresa Pellecchia; Joaquim Ferreira; Eduardo Tolosa; Bastiaan R Bloem; Olivier Rascol; Wassilios G Meissner; John A Hardy; Tamas Revesz; Janice L Holton; Thomas Gasser; Gregor K Wenning; Andrew B Singleton; Henry Houlden
Journal:  Neurology       Date:  2016-09-14       Impact factor: 9.910
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  5 in total

Review 1.  Cross-examining candidate genes implicated in multiple system atrophy.

Authors:  Jared S Katzeff; Katherine Phan; Sivaraman Purushothuman; Glenda M Halliday; Woojin Scott Kim
Journal:  Acta Neuropathol Commun       Date:  2019-07-24       Impact factor: 7.801

2.  Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing.

Authors:  Diego Perez-Rodriguez; Maria Kalyva; Melissa Leija-Salazar; Tammaryn Lashley; Maxime Tarabichi; Viorica Chelban; Steve Gentleman; Lucia Schottlaender; Hannah Franklin; George Vasmatzis; Henry Houlden; Anthony H V Schapira; Thomas T Warner; Janice L Holton; Zane Jaunmuktane; Christos Proukakis
Journal:  Acta Neuropathol Commun       Date:  2019-12-23       Impact factor: 7.801

3.  ARSA variants in α-synucleinopathies.

Authors:  Mary B Makarious; Monica Diez-Fairen; Lynne Krohn; Cornelis Blauwendraat; Sara Bandres-Ciga; Jinhui Ding; Lasse Pihlstrøm; Henry Houlden; Sonja W Scholz; Ziv Gan-Or
Journal:  Brain       Date:  2019-12-01       Impact factor: 13.501

Review 4.  Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.

Authors:  Sophia R L Vieira; Huw R Morris
Journal:  Front Neurol       Date:  2021-06-04       Impact factor: 4.003

5.  An exploratory assessment of the applicability of direct-to-consumer genetic testing to translational research in Japan.

Authors:  Masahiro Inoue; Shota Arichi; Tsuyoshi Hachiya; Anna Ohtera; Seok-Won Kim; Eric Yu; Masatoshi Nishimura; Kazuhito Shiosakai; Takeshi Ohira
Journal:  BMC Res Notes       Date:  2021-07-23
  5 in total

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