Literature DB >> 31077434

Early-onset pathologically proven multiple system atrophy with LRRK2 G2019S mutation.

Giulietta Maria Riboldi1, Jose-Alberto Palma2, Etty Cortes3, Megan A Iida3,4, Tamjeed Sikder3,4, Brooklyn Henderson1, Towfique Raj4,5, Ruth H Walker6,7, John F Crary3,4, Horacio Kaufmann2, Steven Frucht1.   

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Year:  2019        PMID： 31077434      PMCID： PMC6642007          DOI： 10.1002/mds.27710

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


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  13 in total

1.  High frequency and reduced penetrance of LRRK2 G2019S mutation among Parkinson's disease patients in Cantabria (Spain).

Authors:  María Sierra; Isabel González-Aramburu; Pascual Sánchez-Juan; Coro Sánchez-Quintana; José Miguel Polo; José Berciano; Onofre Combarros; Jon Infante
Journal:  Mov Disord       Date:  2011-09-27       Impact factor: 10.338

2.  MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy.

Authors:  C Vilariño-Güell; A I Soto-Ortolaza; A Rajput; D C Mash; S Papapetropoulos; R Pahwa; K E Lyons; R J Uitti; Z K Wszolek; D W Dickson; M J Farrer; O A Ross
Journal:  Neurology       Date:  2011-02-15       Impact factor: 9.910

3.  G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy.

Authors:  Laurie J Ozelius; Tatiana Foroud; Susanne May; Geetha Senthil; Paola Sandroni; Phillip A Low; Stephen Reich; Amy Colcher; Matthew B Stern; William G Ondo; Joseph Jankovic; Neng Huang; Caroline M Tanner; Peter Novak; Sid Gilman; Frederick J Marshall; G Frederick Wooten; Thomas C Chelimsky; Clifford W Shults
Journal:  Mov Disord       Date:  2007-03-15       Impact factor: 10.338

4.  Analysis of the LRRK2 Gly2385Arg variant in primary dystonia and multiple system atrophy in Taiwan.

Authors:  Chin-Song Lu; Hsiu-Chen Chang; Yi-Hsin Weng; Rou-Shayn Chen; Vincenzo Bonifati; Yah-Huei Wu-Chou
Journal:  Parkinsonism Relat Disord       Date:  2008-05-02       Impact factor: 4.891

5.  Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.

Authors:  Daniel G Healy; Mario Falchi; Sean S O'Sullivan; Vincenzo Bonifati; Alexandra Durr; Susan Bressman; Alexis Brice; Jan Aasly; Cyrus P Zabetian; Stefano Goldwurm; Joaquim J Ferreira; Eduardo Tolosa; Denise M Kay; Christine Klein; David R Williams; Connie Marras; Anthony E Lang; Zbigniew K Wszolek; Jose Berciano; Anthony H V Schapira; Timothy Lynch; Kailash P Bhatia; Thomas Gasser; Andrew J Lees; Nicholas W Wood
Journal:  Lancet Neurol       Date:  2008-06-06       Impact factor: 44.182

6.  Motor and nonmotor heterogeneity of LRRK2-related and idiopathic Parkinson's disease.

Authors:  Connie Marras; Roy N Alcalay; Chelsea Caspell-Garcia; Christopher Coffey; Piu Chan; John E Duda; Maurizio F Facheris; Rubén Fernández-Santiago; Javier Ruíz-Martínez; Tiago Mestre; Rachel Saunders-Pullman; Claustre Pont-Sunyer; Eduardo Tolosa; Bjorg Waro
Journal:  Mov Disord       Date:  2016-04-19       Impact factor: 10.338

Review 7.  LRRK2 p.Ile1371Val Mutation in a Case with Neuropathologically Confirmed Multi-System Atrophy.

Authors:  Kelsey Lee; Khanh-Dung Nguyen; Chao Sun; Mei Liu; Faria Zafar; Jimmy Saetern; Adrian Flierl; James W Tetrud; J William Langston; Dennis Dickson; Birgitt Schüle
Journal:  J Parkinsons Dis       Date:  2018       Impact factor: 5.568

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

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

9.  LRRK2 exonic variants and risk of multiple system atrophy.

Authors:  Michael G Heckman; Lucia Schottlaender; Alexandra I Soto-Ortolaza; Nancy N Diehl; Sruti Rayaprolu; Kotaro Ogaki; Shinsuke Fujioka; Melissa E Murray; William P Cheshire; Ryan J Uitti; Zbigniew K Wszolek; Matthew J Farrer; Anna Sailer; Andrew B Singleton; Patrick F Chinnery; Michael J Keogh; Steve M Gentleman; Janice L Holton; Kiely Aoife; David M A Mann; Safa Al-Sarraj; Claire Troakes; Dennis W Dickson; Henry Houlden; Owen A Ross
Journal:  Neurology       Date:  2014-11-05       Impact factor: 9.910

10.  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
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  5 in total

1.  Dysautonomia in the synucleinopathies: not just orthostatic hypotension.

Authors:  Jose-Alberto Palma
Journal:  Clin Auton Res       Date:  2019-10-24       Impact factor: 4.435

2.  A multiplex pedigree with pathologically confirmed multiple system atrophy and Parkinson's disease with dementia.

Authors:  Alessandra Fanciulli; Fabian Leys; Fabienne Lehner; Victoria Sidoroff; Viktoria C Ruf; Cecilia Raccagni; Philipp Mahlknecht; Demy J S Kuipers; Wilfred F J van IJcken; Heike Stockner; Thomas Musacchio; Jens Volkmann; Camelia Maria Monoranu; Iva Stankovic; Guido Breedveld; Federico Ferraro; Christina Fevga; Otto Windl; Jochen Herms; Stefan Kiechl; Werner Poewe; Klaus Seppi; Nadia Stefanova; Sonja W Scholz; Vincenzo Bonifati; Gregor K Wenning
Journal:  Brain Commun       Date:  2022-07-04

Review 3.  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

Review 4.  [Neuroprotective treatment of idiopathic, genetic and atypical Parkinson's disease with alpha-synuclein-Pathology].

Authors:  Johannes Levin; Georg Nübling; Armin Giese; Annette Janzen; Wolfgang Oertel
Journal:  Nervenarzt       Date:  2021-11-04       Impact factor: 1.297

Review 5.  A historical review of multiple system atrophy with a critical appraisal of cellular and animal models.

Authors:  David J Marmion; Wouter Peelaerts; Jeffrey H Kordower
Journal:  J Neural Transm (Vienna)       Date:  2021-10-06       Impact factor: 3.575
  5 in total

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