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Literature DB >> 19858467

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.

Ellen Sidransky, Ted Samaddar, Nahid Tayebi.

Abstract

Entities: Disease Gene

Mesh：

Substances：
Glucosylceramidase

Year: 2009 PMID： 19858467 DOI： 10.1212/WNL.0b013e3181b28601

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

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24 in total

Review 1. Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.

Authors: Susanne A Schneider; Sabina Tahirovic; John Hardy; Michael Strupp; Tatiana Bremova-Ertl
Journal: J Neurol Date: 2019-11-07 Impact factor: 4.849

Review 2. Astrocytes and lysosomal storage diseases.

Authors: K V Rama Rao; T Kielian
Journal: Neuroscience Date: 2015-05-30 Impact factor: 3.590

3. GBA mutations in Parkinson disease: earlier death but similar neuropathological features.

Authors: C H Adler; T G Beach; H A Shill; J N Caviness; E Driver-Dunckley; M N Sabbagh; A Patel; L I Sue; G Serrano; S A Jacobson; K Davis; C M Belden; B N Dugger; S A Paciga; A R Winslow; W D Hirst; J G Hentz
Journal: Eur J Neurol Date: 2017-08-17 Impact factor: 6.089

4. Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease.

Authors: Yanyan Peng; Benjamin Liou; Venette Inskeep; Rachel Blackwood; Christopher N Mayhew; Gregory A Grabowski; Ying Sun
Journal: Hum Mol Genet Date: 2019-10-15 Impact factor: 6.150

5. Repository of mutations from Oman: The entry point to a national mutation database.

Authors: Anna Rajab; Nishath Hamza; Salma Al Harasi; Fatma Al Lawati; Una Gibbons; Intesar Al Alawi; Karoline Kobus; Suha Hassan; Ghariba Mahir; Qasim Al Salmi; Barend Mons; Peter Robinson
Journal: F1000Res Date: 2015-09-23

Review 6. Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.

Authors: Dena G Hernandez; Xylena Reed; Andrew B Singleton
Journal: J Neurochem Date: 2016-04-18 Impact factor: 5.372

7. 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