HuGE Literature Finder
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Records 1-39
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A novel Parkinson's disease risk variant, p. W378R, in the Gaucher's disease GBA gene.
Movement disorders : official journal of the Movement Disorder Society 2018 Sep . Lubomski Michal, Hayes Michael, Kennerson Marina, Ellis Melina, Chu Shannon, Blackie Jeffrey, O'Sullivan John D, Nicholson Gar |
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Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene.
Parkinsonism & related disorders 2018 May . Thaler Avner, Bregman Noa, Gurevich Tanya, Shiner Tamara, Dror Yonatan, Zmira Ofir, Gan-Or Ziv, Bar-Shira Anat, Gana-Weisz Mali, Orr-Urtreger Avi, Giladi Nir, Mirelman An |
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GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies.
Journal of genetics 2017 Sep 96 (4): 583-589. Gómez Gilberto, Arias Sergio, Cárdenas Leonor, Zoghbi Dalal, Paradisi Ire |
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Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's.
Annals of neurology 2016 Nov 80 (5): 674-685. Liu Ganqiang, Boot Brendon, Locascio Joseph J, Jansen Iris E, Winder-Rhodes Sophie, Eberly Shirley, Elbaz Alexis, Brice Alexis, Ravina Bernard, van Hilten Jacobus J, Cormier-Dequaire Florence, Corvol Jean-Christophe, Barker Roger A, Heutink Peter, Marinus Johan, Williams-Gray Caroline H, Scherzer Clemens R, |
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Prodromal Clinical Markers of Parkinson disease in Gaucher Disease Individuals.
European neurology 2016 Jun 76 (1-2): 19-21. Gatto Emilia M, Etcheverry Jose Luis, Sanguinetti Ana, Cesarini Martin, Fernandez Escobar Nicolas, Drelichman Guiller |
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Involvement of Gaucher Disease Mutations in Parkinson Disease.
Current protein & peptide science 2016 Mar . Vilageliu Lluïsa, Grinberg Dani |
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Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.
QJM : monthly journal of the Association of Physicians 2016 Jan . Torralba M A, Olivera S, Bureo J C, Dalmau J, Nuñez R, León P, Villarrubia |
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Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease.
Movement disorders : official journal of the Movement Disorder Society 2015 Jun 30 (7): 989-91. Nuzhnyi Evgenii, Emelyanov Anton, Boukina Tatyana, Usenko Tatiana, Yakimovskii Andrey, Zakharova Ekaterina, Pchelina Sof |
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The influence of genetic variability and proinflammatory status on the development of bone disease in patients with Gaucher disease.
PloS one 2015 10 (5): e0126153. Gervas-Arruga Javier, Cebolla Jorge Javier, de Blas Ignacio, Roca Mercedes, Pocovi Miguel, Giraldo Pil |
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Visual short-term memory deficits associated with GBA mutation and Parkinson's disease.
Brain : a journal of neurology 2014 Aug 137 (Pt 8): 2303-11. Zokaei Nahid, McNeill Alisdair, Proukakis Christos, Beavan Michelle, Jarman Paul, Korlipara Prasad, Hughes Derralynn, Mehta Atul, Hu Michele T M, Schapira Anthony H V, Husain Mas |
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Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease.
Neurobiology of aging 2014 Apr 35 (4): 935.e3-8. Li Yuanzhe, Sekine Takeshi, Funayama Manabu, Li Lin, Yoshino Hiroyo, Nishioka Kenya, Tomiyama Hiroyuki, Hattori Nobuta |
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Significant study of population stratification, sensitivity analysis and trim and fill analyses on GBA mutation and Parkinson's disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2014 Jan 165B (1): 96-102. Liu Jie, Zhang Hong-X |
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The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
Movement disorders : official journal of the Movement Disorder Society 2013 Feb 28 (2): 232-6. Duran Raquel, Mencacci Niccolo E, Angeli Aikaterini V, Shoai Maryam, Deas Emma, Houlden Henry, Mehta Atul, Hughes Derralynn, Cox Timothy M, Deegan Patrick, Schapira Anthony H, Lees Andrew J, Limousin Patricia, Jarman Paul R, Bhatia Kailash P, Wood Nicholas W, Hardy John, Foltynie T |
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[Characterization of the genotypes of patients with Gaucher disease type 1 in the Russian Federation].
Terapevticheski? arkhiv 2013 85 (7): 72-5. Lukina K A, Fevraleva I S, Sysoeva E P, Mamonov B E, Sudarikov A B, Lukina E |
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Parkinson's disease in patients and obligate carriers of Gaucher disease.
Parkinsonism & related disorders 2012 Aug . Becker JG, Pastores GM, Di Rocco A, Ferraris M, Graber JJ, Sathe S |
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Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population.
Neuroscience letters 2012 Apr 514 (1): 12-5. Choi Jung Mi, Kim Won Chan, Lyoo Chul Hyoung, Kang Suk Yun, Lee Phil Hyu, Baik Jong Sam, Koh Seong-Beom, Ma Hyeo-Il, Sohn Young Ho, Lee Myung Sik, Kim Yun Joo |
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Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.
Clinica chimica acta; international journal of clinical chemistry 2011 Jan 412 (3-4): 365-9. Alfonso Pilar, Pampín Sandra, García-Rodríguez Beatriz, Tejedor Teresa, Domínguez Carmen, Rodríguez-Rey Jose C, Giraldo Pilar, Pocoví Migu |
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Clinical and genetic characteristics of Korean patients with Gaucher disease.
Blood cells, molecules & diseases 2011 Jan 46 (1): 11-4. Jeong Seon-Yong, Park Sang-Jin, Kim Hyon |
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Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.
Human molecular genetics 2011 Jan 20 (1): 202-10. Lesage Suzanne, Anheim Mathieu, Condroyer Christel, Pollak Pierre, Durif Franck, Dupuits Céline, Viallet François, Lohmann Ebba, Corvol Jean-Christophe, Honoré Aurélie, Rivaud Sophie, Vidailhet Marie, Dürr Alexandra, Brice Alexis, |
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[An analysis of mutations causing Gaucher disease in Chinese population].
Zhonghua yi xue za zhi 2009 Dec 89 (48): 3397-400. Zhang Wei-min, Tang N L, Meng Yan, Yao Feng-xia, Qiu Zheng-qing, Duan Yan-long, Huang Shang-zhi, Shi Hui-pi |
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Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Brain : a journal of neurology 2009 Jul 132 (Pt 7): 1783-94. Neumann Juliane, Bras Jose, Deas Emma, O'Sullivan Sean S, Parkkinen Laura, Lachmann Robin H, Li Abi, Holton Janice, Guerreiro Rita, Paudel Reema, Segarane Badmavady, Singleton Andrew, Lees Andrew, Hardy John, Houlden Henry, Revesz Tamas, Wood Nicholas |
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Mutations for Gaucher disease confer high susceptibility to Parkinson disease.
Archives of neurology 2009 May 66 (5): 571-6. Mitsui Jun, Mizuta Ikuko, Toyoda Atsushi, Ashida Ryo, Takahashi Yuji, Goto Jun, Fukuda Yoko, Date Hidetoshi, Iwata Atsushi, Yamamoto Mitsutoshi, Hattori Nobutaka, Murata Miho, Toda Tatsushi, Tsuji Sho |
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The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.
American journal of hematology 2009 Apr 84 (4): 208-14. Taddei Tamar H, Kacena Katherine A, Yang Mei, Yang Ruhua, Malhotra Advitya, Boxer Michael, Aleck Kirk A, Rennert Gadi, Pastores Gregory M, Mistry Pramod |
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Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece.
Neuroscience letters 2009 Mar 452 (2): 87-9. Kalinderi Kallirhoe, Bostantjopoulou Sevasti, Paisan-Ruiz Coro, Katsarou Zoe, Hardy John, Fidani Lia |
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Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
Journal of inherited metabolic disease 2008 Dec 31 (6): 738-44. Fairley C, Zimran A, Phillips M, Cizmarik M, Yee J, Weinreb N, Packman |
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[Neurological manifestations in patients with Gaucher disease and in their relatives].
Medicina clínica 2008 Jul 131 (5): 175-9. Giraldo Pilar, Capablo José Luis, Alfonso Pilar, Latre Paz, García Beatriz, Pocoví Miguel, |
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Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher's disease.
AJR. American journal of roentgenology 2008 Jul 191 (1): 115-23. DeMayo Robert F, Haims Andrew H, McRae Matthew C, Yang Ruhua, Mistry Pramod |
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Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.
Molecular genetics and metabolism 2007 Jan 90 (1): 81-6. Sobreira Elisa, Pires Ricardo F, Cizmarik Marta, Grabowski Gregory |
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Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.
Journal of human genetics 2007 52 (5): 391-6. Alfonso Pilar, Aznarez Sofía, Giralt Manuel, Pocovi Miguel, Giraldo Pilar, |
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High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2006 Sep 39 (9): 1171-9. Rozenberg R, Araújo F T, Fox D C, Aranda P, Nonino A, Micheletti C, Martins A M, Cravo R, Sobreira E, Pereira L |
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Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.
Neurology 2005 Nov 65 (9): 1460-1. Aharon-Peretz Judith, Badarny Samih, Rosenbaum Hanna, Gershoni-Baruch Ru |
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Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.
Genetic testing 2005 9 (1): 26-9. Elstein Deborah, Scott C Ronald, Zeigler Marsha, Abrahamov Aya, Zimran A |
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Glucocerebrosidase mutations in subjects with parkinsonism.
Molecular genetics and metabolism 2004 Jan 81 (1): 70-3. Lwin Alicia, Orvisky Eduard, Goker-Alpan Ozlem, LaMarca Mary E, Sidransky Ell |
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Gaucher disease in Syrian children: common mutations identification, and clinical futures.
Annals of Saudi medicine 0 35 (2): 127-32. Alasmar Dia |
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Glucocerebrosidase gene mutations in black South Africans with Gaucher disease.
Blood cells, molecules & diseases 0 43 (1): 129-33. Arndt Silke, Heitner Rene, Lane Anthony, Ramsay Michè |
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High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients.
Blood cells, molecules & diseases 0 29 (1): 35-40. Torralba M A, Alfonso P, Pérez-Calvo J I, Cenarro A, Pastores G M, Giraldo P, Civeira F, Pocoví |
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Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
European journal of medical genetics 0 51 (4): 315-21. Emre Serap, Gürakan Figen, Yüce Aysel, Rolf Arnold, Scott Ronald, Ozen Has |
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Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy.
Molecular genetics and metabolism 0 77 (1-2): 91-8. Mistry Pramod K, Sirrs Sandra, Chan Alicia, Pritzker Mark R, Duffy Thomas P, Grace Marie E, Meeker David P, Goldman Martin |
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The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.
Blood cells, molecules & diseases 0 31 (2): 187-9; discussion 190-1. Brautbar Ariel, Elstein Deborah, Abrahamov Aya, Zeigler Marsha, Chicco Gaya, Beutler Ernest, Scott C Ronald, Zimran A |
- Page last reviewed:Jul 30, 2019
- Page last updated:Dec 5, 2019
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