Literature DB >> 19882201

Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients.

Zygmunt Jamrozik, Agnieszka Lugowska, Jaroslaw Slawek, Hubert Kwiecinski.   

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Year:  2009        PMID： 19882201     DOI： 10.1007/s00415-009-5363-4

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  9 in total

Review 1.  Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy.

Authors:  B Segarane; A Li; R Paudel; S Scholz; J Neumann; A Lees; T Revesz; J Hardy; C J Mathias; N W Wood; J Holton; H Houlden
Journal:  Neurology       Date:  2009-03-31       Impact factor: 9.910

2.  The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

Authors:  Ozlem Goker-Alpan; Grisel Lopez; Joseph Vithayathil; Joie Davis; Mark Hallett; Ellen Sidransky
Journal:  Arch Neurol       Date:  2008-10

3.  The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease.

Authors:  Usha Gutti; Hon-Chung Fung; Kathleen S Hruska; Mary E Lamarca; Chiung-Mei Chen; Yih-Ru Wu; Ellen Sidransky
Journal:  Arch Neurol       Date:  2008-06

4.  Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

Authors:  Judith Aharon-Peretz; Hanna Rosenbaum; Ruth Gershoni-Baruch
Journal:  N Engl J Med       Date:  2004-11-04       Impact factor: 91.245

Review 5.  Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges.

Authors:  David R Williams; Andrew J Lees
Journal:  Lancet Neurol       Date:  2009-03       Impact factor: 44.182

6.  Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.

Authors:  Ignacio F Mata; Ali Samii; Seth H Schneer; John W Roberts; Alida Griffith; Berta C Leis; Gerard D Schellenberg; Ellen Sidransky; Thomas D Bird; James B Leverenz; Debby Tsuang; Cyrus P Zabetian
Journal:  Arch Neurol       Date:  2008-03

Review 7.  Altered lipid metabolism in brain injury and disorders.

Authors:  Rao Muralikrishna Adibhatla; J F Hatcher
Journal:  Subcell Biochem       Date:  2008

8.  Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

Authors:  N Tayebi; J Walker; B Stubblefield; E Orvisky; M E LaMarca; K Wong; H Rosenbaum; R Schiffmann; B Bembi; E Sidransky
Journal:  Mol Genet Metab       Date:  2003-06       Impact factor: 4.797

Review 9.  Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease.

Authors:  Jose Bras; Andrew Singleton; Mark R Cookson; John Hardy
Journal:  FEBS J       Date:  2008-12       Impact factor: 5.542
  9 in total
  12 in total

Review 1.  The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.

Authors:  Arash Velayati; W Haung Yu; Ellen Sidransky
Journal:  Curr Neurol Neurosci Rep       Date:  2010-05       Impact factor: 5.081

Review 2.  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

Review 3.  Genetic convergence of Parkinson's disease and lysosomal storage disorders.

Authors:  Hao Deng; Xiaofei Xiu; Joseph Jankovic
Journal:  Mol Neurobiol       Date:  2014-08-07       Impact factor: 5.590

Review 4.  The link between the GBA gene and parkinsonism.

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

Review 5.  Gaucher disease: insights from a rare Mendelian disorder.

Authors:  Ellen Sidransky
Journal:  Discov Med       Date:  2012-10       Impact factor: 2.970

Review 6.  Glucocerebrosidase is shaking up the synucleinopathies.

Authors:  Marina Siebert; Ellen Sidransky; Wendy Westbroek
Journal:  Brain       Date:  2014-02-14       Impact factor: 13.501

7.  Frequency of GBA variants in autopsy-proven multiple system atrophy.

Authors:  Miriam Sklerov; Un Jung Kang; Christopher Liong; Lorraine Clark; Karen Marder; Michael Pauciulo; William C Nichols; Wendy K Chung; Lawrence S Honig; Etty Cortes; Jean Paul Vonsattel; Roy N Alcalay
Journal:  Mov Disord Clin Pract       Date:  2017-04-03

Review 8.  Glucocerebrosidase and Parkinson disease: Recent advances.

Authors:  Anthony H V Schapira
Journal:  Mol Cell Neurosci       Date:  2015-03-20       Impact factor: 4.314

Review 9.  Gaucher disease and the synucleinopathies: refining the relationship.

Authors:  Tessa N Campbell; Francis Y M Choy
Journal:  Orphanet J Rare Dis       Date:  2012-01-31       Impact factor: 4.123

Review 10.  Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.

Authors:  Sophia R L Vieira; Huw R Morris
Journal:  Front Neurol       Date:  2021-06-04       Impact factor: 4.003
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