Literature DB >> 16185900

Hematologically important mutations: Gaucher disease.

Ernest Beutler1, Terri Gelbart, C Ronald Scott.   

Abstract

Entities:  

Mesh：

Year:  2005        PMID： 16185900     DOI： 10.1016/j.bcmd.2005.07.005

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN： 1079-9796            Impact factor:   3.039


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  49 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.  Outcome of ten years' echocardiographic follow-up in children with Gaucher disease.

Authors:  Dror Rosengarten; Aya Abrahamov; Amiram Nir; Benjamin Farber; Joram Glaser; Ari Zimran; Deborah Elstein
Journal:  Eur J Pediatr       Date:  2006-08-29       Impact factor: 3.183

3.  Gaucher disease in sheep.

Authors:  Litsa Karageorgos; Malcolm J Lancaster; Judith S Nimmo; John J Hopwood
Journal:  J Inherit Metab Dis       Date:  2010-10-27       Impact factor: 4.982

4.  Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease.

Authors:  M J Barrett; V L Shanker; W L Severt; D Raymond; S J Gross; N Schreiber-Agus; R Kornreich; L J Ozelius; S B Bressman; R Saunders-Pullman
Journal:  JIMD Rep       Date:  2014-05-22

Review 5.  GBA-Associated Parkinson's Disease and Other Synucleinopathies.

Authors:  Ziv Gan-Or; Christopher Liong; Roy N Alcalay
Journal:  Curr Neurol Neurosci Rep       Date:  2018-06-08       Impact factor: 5.081

6.  Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.

Authors:  Marina Siebert; Hugo Bock; Kristiane Michelin-Tirelli; Janice C Coelho; Roberto Giugliani; Maria Luiza Saraiva-Pereira
Journal:  JIMD Rep       Date:  2012-10-09

7.  GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology.

Authors:  Debby Tsuang; James B Leverenz; Oscar L Lopez; Ronald L Hamilton; David A Bennett; Julie A Schneider; Aron S Buchman; Eric B Larson; Paul K Crane; Jeffrey A Kaye; Patricia Kramer; Randy Woltjer; Walter Kukull; Peter T Nelson; Gregory A Jicha; Janna H Neltner; Doug Galasko; Eliezer Masliah; John Q Trojanowski; Gerard D Schellenberg; Dora Yearout; Haley Huston; Allison Fritts-Penniman; Ignacio F Mata; Jia Y Wan; Karen L Edwards; Thomas J Montine; Cyrus P Zabetian
Journal:  Neurology       Date:  2012-10-03       Impact factor: 9.910

8.  Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease.

Authors:  M J Barrett; J Hagenah; V Dhawan; S Peng; K Stanley; D Raymond; A Deik; S J Gross; N Schreiber-Agus; A Mirelman; K Marder; L J Ozelius; D Eidelberg; S B Bressman; R Saunders-Pullman
Journal:  Parkinsonism Relat Disord       Date:  2012-10-10       Impact factor: 4.891

9.  Greater risk of parkinsonism associated with non-N370S GBA1 mutations.

Authors:  M J Barrett; P Giraldo; J L Capablo; P Alfonso; P Irun; B Garcia-Rodriguez; M Pocovi; G M Pastores
Journal:  J Inherit Metab Dis       Date:  2012-09-12       Impact factor: 4.982

10.  LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease.

Authors:  Z Gan-Or; A Bar-Shira; A Mirelman; T Gurevich; M Kedmi; N Giladi; A Orr-Urtreger
Journal:  Neurogenetics       Date:  2009-05-21       Impact factor: 2.660
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