HuGE Literature Finder
Records 1-30
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Comprehensive clinical, biochemical and genetic screening reveals four distinct
Molecular genetics and metabolism reports 2019 Dec 21 100532. Cullufi P, Tabaku M, Beetz C, Tomori S, Velmishi V, Gjikopulli A, Bauer P, Wirth S, Rolfs |
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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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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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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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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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[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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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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- Page last updated:Nov 24, 2020
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