Literature DB >> 21321341

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

C Vilariño-Güell1, 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.   

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Year:  2011        PMID: 21321341      PMCID: PMC3053340          DOI: 10.1212/WNL.0b013e31820c30c1

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


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  7 in total

1.  High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.

Authors:  Rosa Rademakers; Stacey Melquist; Marc Cruts; Jessie Theuns; Jurgen Del-Favero; Parvoneh Poorkaj; Matt Baker; Kristel Sleegers; Richard Crook; Tim De Pooter; Samira Bel Kacem; Jennifer Adamson; Dirk Van den Bossche; Marleen Van den Broeck; Jennifer Gass; Ellen Corsmit; Peter De Rijk; Natalie Thomas; Sebastiaan Engelborghs; Michael Heckman; Irene Litvan; Julia Crook; Peter P De Deyn; Dennis Dickson; Gerard D Schellenberg; Christine Van Broeckhoven; Michael L Hutton
Journal:  Hum Mol Genet       Date:  2005-09-29       Impact factor: 6.150

2.  Initiation and synergistic fibrillization of tau and alpha-synuclein.

Authors:  Benoit I Giasson; Mark S Forman; Makoto Higuchi; Lawrence I Golbe; Charles L Graves; Paul T Kotzbauer; John Q Trojanowski; Virginia M-Y Lee
Journal:  Science       Date:  2003-04-25       Impact factor: 47.728

3.  Neuropathological changes in essential tremor: 33 cases compared with 21 controls.

Authors:  Elan D Louis; Phyllis L Faust; Jean-Paul G Vonsattel; Lawrence S Honig; Alex Rajput; Christopher A Robinson; Ali Rajput; Rajesh Pahwa; Kelly E Lyons; G Webster Ross; Sarah Borden; Carol B Moskowitz; Arlene Lawton; Nora Hernandez
Journal:  Brain       Date:  2007-11-19       Impact factor: 13.501

4.  Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.

Authors:  M Hutton; C L Lendon; P Rizzu; M Baker; S Froelich; H Houlden; S Pickering-Brown; S Chakraverty; A Isaacs; A Grover; J Hackett; J Adamson; S Lincoln; D Dickson; P Davies; R C Petersen; M Stevens; E de Graaff; E Wauters; J van Baren; M Hillebrand; M Joosse; J M Kwon; P Nowotny; L K Che; J Norton; J C Morris; L A Reed; J Trojanowski; H Basun; L Lannfelt; M Neystat; S Fahn; F Dark; T Tannenberg; P R Dodd; N Hayward; J B Kwok; P R Schofield; A Andreadis; J Snowden; D Craufurd; D Neary; F Owen; B A Oostra; J Hardy; A Goate; J van Swieten; D Mann; T Lynch; P Heutink
Journal:  Nature       Date:  1998-06-18       Impact factor: 49.962

5.  Association of the MAPT locus with Parkinson's disease.

Authors:  C Wider; C Vilariño-Güell; B Jasinska-Myga; M G Heckman; A I Soto-Ortolaza; S A Cobb; J O Aasly; J M Gibson; T Lynch; R J Uitti; Z K Wszolek; M J Farrer; O A Ross
Journal:  Eur J Neurol       Date:  2009-11-12       Impact factor: 6.089

6.  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

7.  Genome-wide association study reveals genetic risk underlying Parkinson's disease.

Authors:  Javier Simón-Sánchez; Claudia Schulte; Jose M Bras; Manu Sharma; J Raphael Gibbs; Daniela Berg; Coro Paisan-Ruiz; Peter Lichtner; Sonja W Scholz; Dena G Hernandez; Rejko Krüger; Monica Federoff; Christine Klein; Alison Goate; Joel Perlmutter; Michael Bonin; Michael A Nalls; Thomas Illig; Christian Gieger; Henry Houlden; Michael Steffens; Michael S Okun; Brad A Racette; Mark R Cookson; Kelly D Foote; Hubert H Fernandez; Bryan J Traynor; Stefan Schreiber; Sampath Arepalli; Ryan Zonozi; Katrina Gwinn; Marcel van der Brug; Grisel Lopez; Stephen J Chanock; Arthur Schatzkin; Yikyung Park; Albert Hollenbeck; Jianjun Gao; Xuemei Huang; Nick W Wood; Delia Lorenz; Günther Deuschl; Honglei Chen; Olaf Riess; John A Hardy; Andrew B Singleton; Thomas Gasser
Journal:  Nat Genet       Date:  2009-11-15       Impact factor: 38.330

  7 in total
  37 in total

Review 1.  Clinical Neurology and Epidemiology of the Major Neurodegenerative Diseases.

Authors:  Michael G Erkkinen; Mee-Ohk Kim; Michael D Geschwind
Journal:  Cold Spring Harb Perspect Biol       Date:  2018-04-02       Impact factor: 10.005

Review 2.  Challenges in essential tremor genetics.

Authors:  L N Clark; E D Louis
Journal:  Rev Neurol (Paris)       Date:  2015-05-21       Impact factor: 2.607

Review 3.  Essential tremor.

Authors:  Lorraine N Clark; Elan D Louis
Journal:  Handb Clin Neurol       Date:  2018

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

Authors:  Giulietta Maria Riboldi; Jose-Alberto Palma; Etty Cortes; Megan A Iida; Tamjeed Sikder; Brooklyn Henderson; Towfique Raj; Ruth H Walker; John F Crary; Horacio Kaufmann; Steven Frucht
Journal:  Mov Disord       Date:  2019-05-11       Impact factor: 10.338

Review 5.  Essential tremor followed by progressive supranuclear palsy: postmortem reports of 11 patients.

Authors:  Elan D Louis; Rachel Babij; Karen Ma; Etty Cortés; Jean-Paul G Vonsattel
Journal:  J Neuropathol Exp Neurol       Date:  2013-01       Impact factor: 3.685

6.  MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome.

Authors:  Angela Roco; Félix Javier Jiménez-Jiménez; Hortensia Alonso-Navarro; Carmen Martínez; Martín Zurdo; Laura Turpín-Fenoll; Jorge Millán; Teresa Adeva-Bartolomé; Esther Cubo; Francisco Navacerrada; Ana Rojo-Sebastián; Lluisa Rubio; Marisol Calleja; José Francisco Plaza-Nieto; Belén Pilo-de-la-Fuente; Margarita Arroyo-Solera; Elena García-Martín; José A G Agúndez
Journal:  J Neural Transm (Vienna)       Date:  2012-09-22       Impact factor: 3.575

7.  Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.

Authors:  Catherine Labbé; Kotaro Ogaki; Oswaldo Lorenzo-Betancor; Alexandra I Soto-Ortolaza; Ronald L Walton; Sruti Rayaprolu; Shinsuke Fujioka; Melissa E Murray; Michael G Heckman; Andreas Puschmann; Allan McCarthy; Timothy Lynch; Joanna Siuda; Grzegorz Opala; Monika Rudzinska; Anna Krygowska-Wajs; Maria Barcikowska; Krzysztof Czyzewski; Yanosh Sanotsky; Irena Rektorová; Pamela J McLean; Rosa Rademakers; Nilüfer Ertekin-Taner; Anhar Hassan; J Eric Ahlskog; Bradley F Boeve; Ronald C Petersen; Demetrius M Maraganore; Charles H Adler; Tanis J Ferman; Joseph E Parisi; Neill R Graff-Radford; Ryan J Uitti; Zbigniew K Wszolek; Dennis W Dickson; Owen A Ross
Journal:  Neurology       Date:  2015-09-02       Impact factor: 9.910

Review 8.  Genetic susceptibility variants in parkinsonism.

Authors:  Alexandra I Soto-Ortolaza; Owen A Ross
Journal:  Parkinsonism Relat Disord       Date:  2015-09-07       Impact factor: 4.891

9.  Tremor in progressive supranuclear palsy.

Authors:  Shinsuke Fujioka; Avi A Algom; Melissa E Murray; Monica Y Sanchez-Contreras; Pawel Tacik; Yoshio Tsuboi; Jay A Van Gerpen; Ryan J Uitti; Rosa Rademakers; Owen A Ross; Zbigniew K Wszolek; Dennis W Dickson
Journal:  Parkinsonism Relat Disord       Date:  2016-03-22       Impact factor: 4.891

10.  Slow Progressive Accumulation of Oligodendroglial Alpha-Synuclein (α-Syn) Pathology in Synthetic α-Syn Fibril-Induced Mouse Models of Synucleinopathy.

Authors:  Norihito Uemura; Maiko T Uemura; Angela Lo; Fares Bassil; Bin Zhang; Kelvin C Luk; Virginia M-Y Lee; Ryosuke Takahashi; John Q Trojanowski
Journal:  J Neuropathol Exp Neurol       Date:  2019-10-01       Impact factor: 3.685

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