HuGE Literature Finder
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Records 1-92
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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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Alpha galactosidase A activity in Parkinson's disease.
Neurobiology of disease 2018 04 112 85-90. Alcalay R N, Wolf P, Levy O A, Kang U J, Waters C, Fahn S, Ford B, Kuo S H, Vanegas N, Shah H, Liong C, Narayan S, Pauciulo M W, Nichols W C, Gan-Or Z, Rouleau G A, Chung W K, Oliva P, Keutzer J, Marder K, Zhang X |
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Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1.
Therapeutics and clinical risk management 2018 14 2069-2080. Zimmermann Anca, Popp Radu A, Rossmann Heidi, Bucerzan Simona, Nascu Ioana, Leucuta Daniel, Weber Matthias M, Grigorescu-Sido Pau |
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The Association between E326K of GBA and the Risk of Parkinson's Disease.
Parkinson's disease 2018 2018 1048084. Huang Yongpan, Deng Langmei, Zhong Yanjun, Yi Minh |
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Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
Brain : a journal of neurology 2017 Nov . Robak Laurie A, Jansen Iris E, van Rooij Jeroen, Uitterlinden André G, Kraaij Robert, Jankovic Joseph, , Heutink Peter, Shulman Joshua M, , |
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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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A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease.
Molecular genetics & genomic medicine 2017 Mar 5 (2): 147-156. Barkhuizen Melinda, Anderson David G, van der Westhuizen Francois H, Grobler Anne |
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Genes for Parkinson's disease.
Nihon rinsho. Japanese journal of clinical medicine 2017 Jan 75 (1): 21-27. Toda Tatsus |
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A "dose" effect of mutations in the GBA gene on Parkinson's disease phenotype.
Parkinsonism & related disorders 2016 Dec . Thaler Avner, Gurevich Tanya, Bar Shira Anat, Gana Weisz Mali, Ash Elissa, Shiner Tamara, Orr-Urtreger Avi, Giladi Nir, Mirelman An |
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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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GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.
Neurology. Genetics 2016 Oct 2 (5): e104. Mallett Victoria, Ross Jay P, Alcalay Roy N, Ambalavanan Amirthagowri, Sidransky Ellen, Dion Patrick A, Rouleau Guy A, Gan-Or Z |
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Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2016 Jun 28 185-6. Ortega Roberto A, Torres Paola A, Swan Matthew, Nichols William, Boschung Sarah, Raymond Deborah, Barrett Matthew J, Johannes Brooke A, Severt Lawrence, Shanker Vicki, Hunt Ann L, Bressman Susan, Pastores Gregory M, Saunders-Pullman Rach |
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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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Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.
Clinical biochemistry 2016 Apr . Mavrikiou Gavriella, Petrou Petros, Georgiou Theodoros, Drousiotou Ant |
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Clinical course and prognosis in patients with Gaucher disease and parkinsonism.
Neurology. Genetics 2016 Apr 2 (2): e57. Lopez Grisel, Kim Jenny, Wiggs Edythe, Cintron Dahima, Groden Catherine, Tayebi Nahid, Mistry Pramod K, Pastores Gregory M, Zimran Ari, Goker-Alpan Ozlem, Sidransky Ell |
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Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.
Neurology. Genetics 2016 Apr 2 (2): e55. Abdelwahab Magy, Blankenship Derek, Schiffmann Rapha |
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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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Chitotriosidase Activity and Gene Polymorphism in Iranian Patients with Gaucher Disease and Sibling Carriers.
Iranian journal of child neurology 2016 10 (4): 62-70. Mozafari Hadi, Taghikhani Mohammad, Khatami Shohreh, Alaei Mohammad Reza, Vaisi-Raygani Asad, Rahimi Zohr |
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Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.
Molecular neurodegeneration 2016 11 (1): 29. Benitez Bruno A, Davis Albert A, Jin Sheng Chih, Ibanez Laura, Ortega-Cubero Sara, Pastor Pau, Choi Jiyoon, Cooper Breanna, Perlmutter Joel S, Cruchaga Carl |
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Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Brain : a journal of neurology 2015 Sep 138 (Pt 9): 2648-58. Alcalay Roy N, Levy Oren A, Waters Cheryl C, Fahn Stanley, Ford Blair, Kuo Sheng-Han, Mazzoni Pietro, Pauciulo Michael W, Nichols William C, Gan-Or Ziv, Rouleau Guy A, Chung Wendy K, Wolf Pavlina, Oliva Petra, Keutzer Joan, Marder Karen, Zhang Xiaok |
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Impact of glucocerebrosidase mutations on motor and nonmotor complications in Parkinson's disease.
Neurobiology of aging 2015 Sep . Oeda Tomoko, Umemura Atsushi, Mori Yuko, Tomita Satoshi, Kohsaka Masayuki, Park Kwiyoung, Inoue Kimiko, Fujimura Harutoshi, Hasegawa Hiroshi, Sugiyama Hiroshi, Sawada Hideyu |
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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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Variants associated with Gaucher disease in multiple system atrophy.
Annals of clinical and translational neurology 2015 Apr 2 (4): 417-26. Mitsui Jun, Matsukawa Takashi, Sasaki Hidenao, Yabe Ichiro, Matsushima Masaaki, Dürr Alexandra, Brice Alexis, Takashima Hiroshi, Kikuchi Akio, Aoki Masashi, Ishiura Hiroyuki, Yasuda Tsutomu, Date Hidetoshi, Ahsan Budrul, Iwata Atsushi, Goto Jun, Ichikawa Yaeko, Nakahara Yasuo, Momose Yoshio, Takahashi Yuji, Hara Kenju, Kakita Akiyoshi, Yamada Mitsunori, Takahashi Hitoshi, Onodera Osamu, Nishizawa Masatoyo, Watanabe Hirohisa, Ito Mizuki, Sobue Gen, Ishikawa Kinya, Mizusawa Hidehiro, Kanai Kazuaki, Hattori Takamichi, Kuwabara Satoshi, Arai Kimihito, Koyano Shigeru, Kuroiwa Yoshiyuki, Hasegawa Kazuko, Yuasa Tatsuhiko, Yasui Kenichi, Nakashima Kenji, Ito Hijiri, Izumi Yuishin, Kaji Ryuji, Kato Takeo, Kusunoki Susumu, Osaki Yasushi, Horiuchi Masahiro, Kondo Tomoyoshi, Murayama Shigeo, Hattori Nobutaka, Yamamoto Mitsutoshi, Murata Miho, Satake Wataru, Toda Tatsushi, Filla Alessandro, Klockgether Thomas, Wüllner Ullrich, Nicholson Garth, Gilman Sid, Tanner Caroline M, Kukull Walter A, Stern Mathew B, Lee Virginia M-Y, Trojanowski John Q, Masliah Eliezer, Low Phillip A, Sandroni Paola, Ozelius Laurie J, Foroud Tatiana, Tsuji Sho |
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Dup-24 bp in the CHIT1 Gene in Six Mexican Amerindian Populations.
JIMD reports 2015 23 123-7. Da Silva-José T D, Juárez-Rendón K J, Juárez-Osuna J A, Porras-Dorantes A, Valladares-Salgado A, Cruz M, Gonzalez-Ibarra M, Soto A G, Magaña-Torres M T, Sandoval-Ramírez L, García-Ortiz José Elí |
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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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An update of Gaucher mutations distribution in the Ashkenazi Jewish population: prevalence and country of origin of the mutation R496H.
The Israel Medical Association journal : IMAJ 2014 Nov 16 (11): 683-5. Bronstein Silvia, Karpati Mazal, Peleg Le |
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?-Synuclein rs356219 polymorphisms in patients with Gaucher disease and Parkinson disease.
Neuroscience letters 2014 Sep 580 104-7. Altarescu Gheona, Ioscovich Daniel, Alcalay Roy N, Zimran Ari, Elstein Debor |
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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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Allele frequency of a 24?bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.
Journal of human genetics 2014 May 59 (5): 276-9. Woo Kyu Ha, Lee Beom Hee, Heo Sun Hee, Kim Jae-Min, Kim Gu-Hwan, Kim Yoo-Mi, Kim Ja Hye, Choi In-Hee, Yang Song Hyun, Yoo Han-Wo |
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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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Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.
Human mutation 2013 Oct 34 (10): 1396-403. Alfonso Pilar, Navascués Joaquín, Navarro Silvia, Medina Pilar, Bolado-Carrancio Alfonso, Andreu Vanesa, Irún Pilar, Rodríguez-Rey José Carlos, Pocoví Miguel, España Francisco, Giraldo Pil |
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Greater risk of parkinsonism associated with non-N370S GBA1 mutations.
Journal of inherited metabolic disease 2013 May 36 (3): 575-80. Barrett M J, Giraldo P, Capablo J L, Alfonso P, Irun P, Garcia-Rodriguez B, Pocovi M, Pastores G |
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KIR genes and HLA class I ligands in Gaucher disease.
Gene 2013 Mar 516 (1): 53-7. Vairo Filippo, Portela Pâmela, Salim Patrícia H, Jobim Mariana, Netto Cristina, Dorneles Alicia, Mittlestadt Suzana, Jobim Luiz Fernando, Schwartz Ida Vanessa |
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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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Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease.
Parkinsonism & related disorders 2013 Feb 19 (2): 186-91. Barrett M J, Hagenah J, Dhawan V, Peng S, Stanley K, Raymond D, Deik A, Gross S J, Schreiber-Agus N, Mirelman A, Marder K, Ozelius L J, Eidelberg D, Bressman S B, Saunders-Pullman R, |
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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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Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene.
JIMD reports 2013 9 85-91. Adelino Talita E R, Martins Gustavo G, Gomes Aretta A A, Torres Adriana A, Silva Daniel A S, Xavier Vinícius D O, Guimarães João Paulo O, Araújo Sérgio S S, Fernandes Rachel A F, Oliveira Maria Christina L A, Godard Ana Lúcia B, Valadares Eugênia |
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Chitotriosidase deficiency: a mutation update in an african population.
JIMD reports 2013 10 11-6. Arndt Silke, Hobbs Angela, Sinclaire Iain, Lane Anthony |
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Human leukocyte antigens and Gaucher disease.
Blood cells, molecules & diseases 2012 Nov . Vairo F, Portela P, Salim PH, Jobim M, Netto C, Dorneles A, Mittlestadt S, Jobim LF, Schwartz IV |
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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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The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow.
Brain : a journal of neurology 2012 Aug 135 (Pt 8): Pt 8. Goker-Alpan O, Masdeu JC, Kohn PD, Ianni A, Lopez G, Groden C, Chapman MC, Cropp B, Eisenberg DP, Maniwang ED, Davis J, Wiggs E, Sidransky E, Berman KF |
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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 |
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.
American journal of hematology 2012 Apr 87 (4): 377-83. Zhang Clarence K, Stein Philip B, Liu Jun, Wang Zuoheng, Yang Ruhua, Cho Judy H, Gregersen Peter K, Aerts Johannes M F G, Zhao Hongyu, Pastores Gregory M, Mistry Pramod |
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Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2012 Mar 27 (3): 400-5. Michelakakis Helen, Xiromerisiou Georgia, Dardiotis Efthimios, Bozi Maria, Vassilatis Demetrios, Kountra Persa-Maria, Patramani Gianna, Moraitou Marina, Papadimitriou Dimitra, Stamboulis Eleftherios, Stefanis Leonidas, Zintzaras Elias, Hadjigeorgiou Georgios |
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Analysis of the ?-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.
Journal of pediatric endocrinology & metabolism : JPEM 2012 25 (9-10): 957-62. Karaca Emin, Kalkan Sema, Onay Huseyin, Aykut Ayca, Coker Mahmut, Ozkinay Fer |
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Newborn screening for lysosomal storage disorders in hungary.
JIMD reports 2012 6 117-25. Wittmann Judit, Karg Eszter, Turi Sàndor, Legnini Elisa, Wittmann Gyula, Giese Anne-Katrin, Lukas Jan, Gölnitz Uta, Klingenhäger Michael, Bodamer Olaf, Mühl Adolf, Rolfs Arn |
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Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes.
World journal of pediatrics : WJP 2011 Nov 7 (4): 326-30. El-Morsy Zakarya, Khashaba Mohamed T, Soliman Othman El-Sayed, Yahia Sohier, El-Hady Dina A |
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Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease.
Movement disorders : official journal of the Movement Disorder Society 2011 Jun 26 (7): 1341-3. Ribner Avigayil, Altarescu Gheona, Zimran Ari, Elstein Debor |
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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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The cytosolic ?-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation.
Blood cells, molecules & diseases 2011 Jan 46 (1): 19-26. Dekker Nick, Voorn-Brouwer Tineke, Verhoek Marri, Wennekes Tom, Narayan Ravi S, Speijer Dave, Hollak Carla E M, Overkleeft Hermen S, Boot Rolf G, Aerts Johannes M F |
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Vitamin D Receptor (VDR) polymorphic variants in patients with cancer and Gaucher disease.
Blood cells, molecules & diseases 2011 Jan 46 (1): 92-4. Lieblich Michelle, Altarescu Gheona, Zimran Ari, Elstein Debor |
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Effect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher disease.
Clinical rheumatology 2010 Sep 29 (9): 1037-41. Greenwood Allen, Elstein Deborah, Zimran Ari, Altarescu Gheo |
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Hyperferritinemia and iron overload in type 1 Gaucher disease.
American journal of hematology 2010 Jul 85 (7): 472-6. Stein Philip, Yu Hannah, Jain Dhanpat, Mistry Pramod |
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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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Perthes' disease and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia.
The Journal of bone and joint surgery. British volume 2008 Nov 90 (11): 1507-11. Kenet G, Ezra E, Wientroub S, Steinberg D M, Rosenberg N, Waldman D, Hayek |
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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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Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density.
Rheumatology international 2008 Jul 28 (9): 873-7. Arnheim Efrat, Chicco Gaya, Phillips Mici, Lebel Ehud, Foldes A Joseph, Itzchaki Menachem, Elstein Deborah, Zimran Ari, Altarescu Gheo |
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Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset.
Neurology 2008 Jun 70 (24): 2277-83. Gan-Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, Bar-Shira A, Orr-Urtreger |
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Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
Prenatal diagnosis 2008 Mar 28 (3): 236-41. Fares Fuad, Badarneh Khader, Abosaleh Mohamed, Harari-Shaham Amalia, Diukman Roni, David Miri |
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Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.
Molecular genetics and metabolism 2007 Jun 91 (2): 195-200. Ziegler Shira G, Eblan Michael J, Gutti Usha, Hruska Kathleen S, Stubblefield Barbara K, Goker-Alpan Ozlem, LaMarca Mary E, Sidransky Ell |
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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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Serum levels of osteoprotegerin and osteoprotegerin polymorphisms in Gaucher disease.
British journal of haematology 2006 Apr 133 (1): 93-7. Magal Itai, Lebel Ehud, Altarescu Gheona, Itzchaki Menachem, Rudensky Bernard, Foldes A Joseph, Zimran Ari, Elstein Debor |
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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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Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy.
Pediatrics 2004 Oct 114 (4): 909-16. Meikle Peter J, Ranieri Enzo, Simonsen Henrik, Rozaklis Tina, Ramsay Steve L, Whitfield Phillip D, Fuller Maria, Christensen Ernst, Skovby Flemming, Hopwood John |
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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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The interleukin-6 promoter polymorphism in Gaucher disease: a new modifier gene?
QJM : monthly journal of the Association of Physicians 2003 Aug 96 (8): 575-8. Altarescu G, Phillips M, Foldes A J, Elstein D, Zimran A, Mates |
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Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype.
The Israel Medical Association journal : IMAJ 2002 Nov 4 (11): 986-8. Beutler Ernest, West Car |
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The E326K mutation and Gaucher disease: mutation or polymorphism?
Clinical genetics 2002 Jan 61 (1): 32-4. Park J K, Tayebi N, Stubblefield B K, LaMarca M E, MacKenzie J J, Stone D L, Sidransky |
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Incidence of thrombophilia in patients with Gaucher disease.
American journal of medical genetics 2000 Dec 95 (5): 429-31. Elstein D, Renbaum P, Levy-Lahad E, Zimran |
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?-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease.
Molecular genetics and metabolism 0 104 (1-2): 149-52. Moraitou Marina, Hadjigeorgiou Georgios, Monopolis Ioannis, Dardiotis Efthimios, Bozi Maria, Vassilatis Demitris, Vilageliu Lluisa, Grinberg Daniel, Xiromerisiou Georgia, Stefanis Leonidas, Michelakakis Hel |
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[24-bp duplication on CHIT1 gene in Mexican population].
Revista me?dica del Instituto Mexicano del Seguro Social 0 50 (4): 375-7. Juárez-Rendón Karina Janett, Lara-Aguilar Ricardo Alejandro, García-Ortiz José Elí |
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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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Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory.
Genetics in medicine : official journal of the American College of Medical Genetics 0 6 (3): 145-52. Strom Charles M, Crossley Beryl, Redman Joy B, Quan Franklin, Buller Arlene, McGinniss Matthew J, Sun Weim |
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Proteinase-activated receptor (PAR1) polymorphic variant correlates with thrombocytopenia in Gaucher disease.
Blood cells, molecules & diseases 0 44 (2): 79-81. Altarescu Gheona, Seror-Bukris Orit, Zimran Ari, Elstein Debor |
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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 |
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- Page last updated:Sep 18, 2019
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