Literature DB >> 30838276

Progressive Supranuclear Palsy-Like Phenotype in a GBA E326K Mutation Carrier.

Marina Picillo1, Simona Petrucci2, Enza Maria Valente1, Sabina Pappatà3, Fiorenzo Squame4, Monia Ginevrino1, Leonardo Pace5, Paolo Barone1, Maria Teresa Pellecchia1.   

Abstract

Entities:  

Keywords:  GBA; PSP; glucocerebrosidase; parkinsonism

Year:  2016        PMID： 30838276      PMCID： PMC6353524          DOI： 10.1002/mdc3.12406

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  12 in total

1.  GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease.

Authors:  Ignacio F Mata; James B Leverenz; Daniel Weintraub; John Q Trojanowski; Alice Chen-Plotkin; Vivianna M Van Deerlin; Beate Ritz; Rebecca Rausch; Stewart A Factor; Cathy Wood-Siverio; Joseph F Quinn; Kathryn A Chung; Amie L Peterson-Hiller; Jennifer G Goldman; Glenn T Stebbins; Bryan Bernard; Alberto J Espay; Fredy J Revilla; Johnna Devoto; Liana S Rosenthal; Ted M Dawson; Marilyn S Albert; Debby Tsuang; Haley Huston; Dora Yearout; Shu-Ching Hu; Brenna A Cholerton; Thomas J Montine; Karen L Edwards; Cyrus P Zabetian
Journal:  Mov Disord       Date:  2015-08-21       Impact factor: 10.338

2.  Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3.

Authors:  M Siebert; K C Donis; M Socal; C R M Rieder; V E Emmel; F Vairo; K Michelin-Tirelli; M França; A C D'Abreu; C Bettencourt; M Lima; I Lopes Cendes; M L Saraiva-Pereira; L B Jardim
Journal:  Parkinsonism Relat Disord       Date:  2011-10-15       Impact factor: 4.891

3.  Differential effects of severe vs mild GBA mutations on Parkinson disease.

Authors:  Ziv Gan-Or; Idan Amshalom; Laura L Kilarski; Anat Bar-Shira; Mali Gana-Weisz; Anat Mirelman; Karen Marder; Susan Bressman; Nir Giladi; Avi Orr-Urtreger
Journal:  Neurology       Date:  2015-02-04       Impact factor: 9.910

4.  Typical cerebral metabolic patterns in neurodegenerative brain diseases.

Authors:  Laura K Teune; Anna L Bartels; Bauke M de Jong; Antoon T M Willemsen; Silvia A Eshuis; Jeroen J de Vries; Joost C H van Oostrom; Klaus L Leenders
Journal:  Mov Disord       Date:  2010-10-30       Impact factor: 10.338

Review 5.  The link between the GBA gene and parkinsonism.

Authors:  Ellen Sidransky; Grisel Lopez
Journal:  Lancet Neurol       Date:  2012-11       Impact factor: 44.182

6.  Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.

Authors:  Lama M Chahine; Judy Qiang; Emily Ashbridge; James Minger; Dora Yearout; Stacy Horn; Amy Colcher; Howard I Hurtig; Virginia M-Y Lee; Vivianna M Van Deerlin; James B Leverenz; Andrew D Siderowf; John Q Trojanowski; Cyrus P Zabetian; Alice Chen-Plotkin
Journal:  JAMA Neurol       Date:  2013-07       Impact factor: 18.302

7.  Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor.

Authors:  Lorraine N Clark; Sergey Kisselev; Naeun Park; Barbara Ross; Miguel Verbitsky; Eileen Rios; Roy N Alcalay; Joseph H Lee; Elan D Louis
Journal:  Parkinsonism Relat Disord       Date:  2009-06-13       Impact factor: 4.891

8.  The saccadic and neurological deficits in type 3 Gaucher disease.

Authors:  William Benko; Markus Ries; Edythe A Wiggs; Roscoe O Brady; Raphael Schiffmann; Edmond J Fitzgibbon
Journal:  PLoS One       Date:  2011-07-20       Impact factor: 3.240

9.  The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.

Authors:  Raquel Duran; Niccolo E Mencacci; Aikaterini V Angeli; Maryam Shoai; Emma Deas; Henry Houlden; Atul Mehta; Derralynn Hughes; Timothy M Cox; Patrick Deegan; Anthony H Schapira; Andrew J Lees; Patricia Limousin; Paul R Jarman; Kailash P Bhatia; Nicholas W Wood; John Hardy; Tom Foltynie
Journal:  Mov Disord       Date:  2012-12-05       Impact factor: 10.338

10.  Glucocerebrosidase mutations in primary parkinsonism.

Authors:  Rosanna Asselta; Valeria Rimoldi; Chiara Siri; Roberto Cilia; Ilaria Guella; Silvana Tesei; Giulia Soldà; Gianni Pezzoli; Stefano Duga; Stefano Goldwurm
Journal:  Parkinsonism Relat Disord       Date:  2014-09-09       Impact factor: 4.891
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  1 in total

1.  Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.

Authors:  Marina Picillo; Sara Scannapieco; Alessandro Iavarone; Monia Ginevrino; Enza Maria Valente; Paolo Barone
Journal:  BMC Neurol       Date:  2021-01-12       Impact factor: 2.474
  1 in total

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