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Literature DB >> 19332698

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

B Segarane¹, A Li, R Paudel, S Scholz, J Neumann, A Lees, T Revesz, J Hardy, C J Mathias, N W Wood, J Holton, H Houlden.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2009 PMID： 19332698 PMCID： PMC2824516 DOI： 10.1212/01.wnl.0000345356.40399.eb

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

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7 in total

Review 1. The role of alpha-synuclein in the pathogenesis of multiple system atrophy.

Authors: Gregor K Wenning; Kurt A Jellinger
Journal: Acta Neuropathol Date: 2005-01-22 Impact factor: 17.088

2. Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.

Authors: O Goker-Alpan; B I Giasson; M J Eblan; J Nguyen; H I Hurtig; V M-Y Lee; J Q Trojanowski; E Sidransky
Journal: Neurology Date: 2006-06-21 Impact factor: 9.910

Review 3. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Authors: D L Stone; N Tayebi; E Orvisky; B Stubblefield; V Madike; E Sidransky
Journal: Hum Mutat Date: 2000 Impact factor: 4.878

Review 4. Heterozygosity for a Mendelian disorder as a risk factor for complex disease.

Authors: E Sidransky
Journal: Clin Genet Date: 2006-10 Impact factor: 4.438

5. Widespread alterations of alpha-synuclein in multiple system atrophy.

Authors: D W Dickson; W Liu; J Hardy; M Farrer; N Mehta; R Uitti; M Mark; T Zimmerman; L Golbe; J Sage; A Sima; C D'Amato; R Albin; S Gilman; S H Yen
Journal: Am J Pathol Date: 1999-10 Impact factor: 4.307

6. Glucocerebrosidase mutations in subjects with parkinsonism.

Authors: Alicia Lwin; Eduard Orvisky; Ozlem Goker-Alpan; Mary E LaMarca; Ellen Sidransky
Journal: Mol Genet Metab Date: 2004-01 Impact factor: 4.797

7. The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlations.

Authors: Tetsutaro Ozawa; Dominic Paviour; Niall P Quinn; Keith A Josephs; Hardev Sangha; Linda Kilford; Daniel G Healy; Nick W Wood; Andrew J Lees; Janice L Holton; Tamas Revesz
Journal: Brain Date: 2004-10-27 Impact factor: 13.501

7 in total

31 in total

1. Glucocerebrosidase mutations in diffuse Lewy body disease.

Authors: Kenya Nishioka; Owen A Ross; Carles Vilariño-Güell; Stephanie A Cobb; Jennifer M Kachergus; David M A Mann; Julie Snowden; Anna M T Richardson; David Neary; Christopher A Robinson; Alex Rajput; Spiridon Papapetropoulos; Deborah C Mash; Rajesh Pahwa; Kelly E Lyons; Zbigniew K Wszolek; Dennis W Dickson; Matthew J Farrer
Journal: Parkinsonism Relat Disord Date: 2011-01 Impact factor: 4.891

Review 2. 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 3. 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

4. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Authors: E Sidransky; M A Nalls; J O Aasly; J Aharon-Peretz; G Annesi; E R Barbosa; A Bar-Shira; D Berg; J Bras; A Brice; C-M Chen; L N Clark; C Condroyer; E V De Marco; A Dürr; M J Eblan; S Fahn; M J Farrer; H-C Fung; Z Gan-Or; T Gasser; R Gershoni-Baruch; N Giladi; A Griffith; T Gurevich; C Januario; P Kropp; A E Lang; G-J Lee-Chen; S Lesage; K Marder; I F Mata; A Mirelman; J Mitsui; I Mizuta; G Nicoletti; C Oliveira; R Ottman; A Orr-Urtreger; L V Pereira; A Quattrone; E Rogaeva; A Rolfs; H Rosenbaum; R Rozenberg; A Samii; T Samaddar; C Schulte; M Sharma; A Singleton; M Spitz; E-K Tan; N Tayebi; T Toda; A R Troiano; S Tsuji; M Wittstock; T G Wolfsberg; Y-R Wu; C P Zabetian; Y Zhao; S G Ziegler
Journal: N Engl J Med Date: 2009-10-22 Impact factor: 91.245

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

Authors: Zygmunt Jamrozik; Agnieszka Lugowska; Jaroslaw Slawek; Hubert Kwiecinski
Journal: J Neurol Date: 2009-11-01 Impact factor: 4.849