Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 65 Records) |
Query Trace: Gaucher Disease and GBA[original query] |
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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 |
Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease. Brain & development 2018 6 40 (10): 876-883. Kang Lulu, Wang Yu, Gao Xiaolan, Qiu Wenjuan, Ye Jun, Han Lianshu, Gu Xuefan, Zhang Huiw |
The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series. Journal of neurology 2018 5 265 (8): 1789-1794. Collins Lucy M, Williams-Gray Caroline H, Morris Elizabeth, Deegan Patrick, Cox Timothy M, Barker Roger |
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 |
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS genetics 2018 5 14 (5): e1007329. Rivas Manuel A, Avila Brandon E, Koskela Jukka, Huang Hailiang, Stevens Christine, Pirinen Matti, Haritunians Talin, Neale Benjamin M, Kurki Mitja, Ganna Andrea, Graham Daniel, Glaser Benjamin, Peter Inga, Atzmon Gil, Barzilai Nir, Levine Adam P, Schiff Elena, Pontikos Nikolas, Weisburd Ben, Lek Monkol, Karczewski Konrad J, Bloom Jonathan, Minikel Eric V, Petersen Britt-Sabina, Beaugerie Laurent, Seksik Philippe, Cosnes Jacques, Schreiber Stefan, Bokemeyer Bernd, Bethge Johannes, , , , Heap Graham, Ahmad Tariq, Plagnol Vincent, Segal Anthony W, Targan Stephan, Turner Dan, Saavalainen Paivi, Farkkila Martti, Kontula Kimmo, Palotie Aarno, Brant Steven R, Duerr Richard H, Silverberg Mark S, Rioux John D, Weersma Rinse K, Franke Andre, Jostins Luke, Anderson Carl A, Barrett Jeffrey C, MacArthur Daniel G, Jalas Chaim, Sokol Harry, Xavier Ramnik J, Pulver Ann, Cho Judy H, McGovern Dermot P B, Daly Mark |
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 |
A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China. Orphanet journal of rare diseases 2018 4 13 (1): 48. Lei Ke, Zhao Yanxia, Sun Lirong, Liang Hui, Luo Ronghua, Sun Xiaojing, Tao Yanling, Chen Lijun, Zhang Lingling, Li Aimin, Li Fu, Ding Hongfa |
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 |
Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study. Journal of neurology, neurosurgery, and psychiatry 2019 6 90 (10): 1091-1097. Avenali Micol, Toffoli Marco, Mullin Stephen, McNeil Alisdair, Hughes Derralynn A, Mehta A, Blandini Fabio, Schapira Anthony H |
Prodromal substantia nigra sonography undermines suggested association between substrate accumulation and the risk for GBA-related Parkinson's disease. European journal of neurology 2019 2 26 (7): 1013-1018. Arkadir D, Dinur T, Becker Cohen M, Revel-Vilk S, Tiomkin M, Brüggemann N, Cozma C, Rolfs A, Zimran |
Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort. Parkinsonism & related disorders 2019 12 70 36-41. Graham O E E, Pitcher T L, Liau Y, Miller A L, Dalrymple-Alford J C, Anderson T J, Kennedy M |
Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family. 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 |
Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients. Neurogenetics 2020 3 21 (3): 159-167. Tantawy Azza Abdel Gawad, Adly Amira Abdel Moneam, Abdeen Mai Seif El Din, Salah Nouran Yous |
Exploring the Genotype-Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers. Frontiers in neurology 2021 7 12 694764. Menozzi Elisa, Schapira Anthony H |
Metabolizing profile of the cytochrome pathway CYP2D6, CYP3A4 and the ABCB 1 transporter in Spanish patients affected by Gaucher disease. Chemico-biological interactions 2021 May 109527. Almeida-Calpe A, López de Frutos L, Medrano-Engay B, García-García C B, Ribate M P, Giraldo |
Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease. Neurology. Genetics 2021 5 7 (4): e600. Oliveira Lais M, Rastin Tara, Nimmo Graeme A M, Ross Jay P, Dion Patrick A, Zhang Ming, Nevay Dayna-Lynn, Arkadir David, Gotkine Marc, Barnett Carolina, Shoesmith Christen L, Zimran Ari, Rogaeva Ekaterina A, Zinman Lorne, Rouleau Guy A, Gan-Or Ziv, Amato Dominick, Kalia Lorraine |
Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease. Movement disorders : official journal of the Movement Disorder Society 2021 May . Toffoli Marco, Higgins Abigail, Lee Chiao, Koletsi Sofia, Chen Xiao, Eberle Michael, Sedlazeck Fritz J, Mullin Stephen, Proukakis Christos, Schapira Anthony H |
Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants. JIMD reports 2021 May 59 (1): 60-68. Limgala Renuka Pudi, Furtak Vyacheslav, Ivanova Margarita M, Changsila Erk, Wilks Floyd, Fidelia-Lambert Marie N, Goker-Alpan Ozlem, Gondré-Lewis Marjorie |
Defective Lysosomal Lipid Catabolism as a Common Pathogenic Mechanism for Dementia. Neuromolecular medicine 2021 2 23 (1): 1-24. Lee Jun Yup, Marian Oana C, Don Anthony |
Cytokines and Gaucher Biomarkers in Glucocerebrosidase Carriers with and Without Parkinson Disease. Movement disorders : official journal of the Movement Disorder Society 2021 Feb . Galper Jasmin, Balwani Manisha, Fahn Stanley, Waters Cheryl, Krohn Lynne, Gan-Or Ziv, Dzamko Nicolas, Alcalay Roy |
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients. Orphanet journal of rare diseases 2021 12 16 (1): 519. Phetthong Tim, Tim-Aroon Thipwimol, Khongkraparn Arthaporn, Noojarern Saisuda, Kuptanon Chulaluck, Wichajarn Khunton, Sathienkijkanchai Achara, Suphapeetiporn Kanya, Charoenkwan Pimlak, Tantiworawit Adisak, Noentong Naruwan, Wattanasirichaigoon Duangrurd |
The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease. Neurodegenerative disease management 2021 10 11 (6): 451-458. Higgins Abigail Louise, Toffoli Marco, Mullin Stephen, Lee Chiao-Yin, Koletsi Sofia, Avenali Micol, Blandini Fabio, Schapira Anthony |
Functional Connectivity Analysis in Heterozygous Glucocerebrosidase Mutation Carriers. Journal of Parkinson's disease 2021 1 11 (2): 559-568. Sezgin Mine, Kicik Ani, Bilgic Basar, Kurt Elif, Bayram Ali, Hanagas? Hasmet, Tepgec Fatih, Toksoy Guven, Gurvit Hakan, Uyguner Oya, Gokcay Gulden, Demiralp Tamer, Emre Mur |
Genetic characterization of the Albanian Gaucher disease patient population. JIMD reports 2021 1 57 (1): 52-57. Cullufi Paskal, Tabaku Mirela, Velmishi Virtut, Gjikopulli Agim, Tomori Sonila, Dervishi Ermira, Tako Aferdita, Leubauer Anika, Westenberger Ana, Cozma Claudia, Beetz Christian, Bauer Peter, Wirth Stefan, Rolfs Arn |
Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks. Molecular genetics and metabolism reports 2022 9 33 100911. Pehrsson Minja, Heikkinen Hanna, Wartiovaara-Kautto Ulla, Mäntylahti Sampo, Bäckström Pia, Lassenius Mariann I, Uusi-Rauva Kristiina, Carpén Olli, Elomaa Kai |
Elevation of gangliosides in four brain regions from Parkinson's disease patients with a GBA mutation. NPJ Parkinson's disease 2022 8 8 (1): 99. Blumenreich Shani, Nehushtan Tamar, Barav Or B, Saville Jennifer T, Dingjan Tamir, Hardy John, Fuller Maria, Futerman Anthony |
A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report. Clinical case reports 2022 5 10 (5): e05846. Jilani Houweyda, Hsoumi Faten, Rejeb Imen, Elaribi Yasmina, Hizem Syrine, Sebai Molka, Rolfs Arndt, Benjemaa Lam |
Genetic Analysis of Acid ?-Glucosidase in Patients with Multiple Myeloma from Central Taiwan: A Small-Cohort Case-Control Study. Biomedicine hub 0 6 (3): 138-144. Lin Wei-De, Tsai Fuu-J |
Double Trouble: Association of Malignant Melanoma with Sporadic and Genetic Forms of Parkinson's Disease and Asymptomatic Carriers of Related Genes: A Brief Report. Medicina (Kaunas, Lithuania) 2023 8 59 (8): . Christos Koros, Athina-Maria Simitsi, Anastasia Bougea, Nikolaos Papagiannakis, Roubina Antonelou, Ioanna Pachi, Efthalia Angelopoulou, Andreas Prentakis, Athena Zachou, Chrysa Chrysovitsanou, Ion Beratis, Stella Fragkiadaki, Dionysia Kontaxopoulou, Efthymia Eftymiopoulou, Evangelia Stanitsa, Constantin Potagas, Sokratis G Papageorgiou, Efstratios Karavasilis, Georgios Velonakis, Vasilios Prassopoulos, Xenia Geronicola-Trapali, Leonidas Stefan |
Osteonecrosis in Gaucher Disease in the era of multiple therapies: biomarker set for risk stratification from a tertiary referral center. eLife 2023 5 12 . Mohsen Basiri, Mohammad E Ghaffari, Jiapeng Ruan, Vagishwari Murugesan, Nathaniel Kleytman, Glenn Belinsky, Amir Akhavan, Andrew Lischuk, Lilu Guo, Katherine Klinger, Pramod K Mist |
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- Page last updated:Mar 25, 2024
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