Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 139 Records) |
Query Trace: Gaucher disease[original query] |
---|
Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: A Kin Cohort Study. Movement disorders : official journal of the Movement Disorder Society 2020 8 35 (11): 2111-2114. Balestrino Roberta, Tunesi Sara, Tesei Silvana, Lopiano Leonardo, Zecchinelli Anna L, Goldwurm Stefa |
A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease. Journal of clinical medicine 2020 7 9 (8): . Serratrice Christine, Stirnemann Jérôme, Berrahal Amina, Belmatoug Nadia, Camou Fabrice, Caillaud Catherine, Billette de Villemeur Thierry, Dalbies Florence, Cador Bérengère, Froissart Roseline, Masseau Agathe, Brassier Anaïs, Hivert Bénédicte, Swiader Laure, Bertchansky Ivan, de Moreuil Claire, Chabrol Brigitte, Durieu Isabelle, Leguy Seguin Vanessa, Astudillo Leonardo, Humbert Sébastien, Pichard Samia, Marcel Catherine, Hau Rainsard Isabelle, Bengherbia Monia, Yousfi Karima, Berger Marc |
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States. American journal of medical genetics. Part C, Seminars in medical genetics 2020 12 184 (4): 1052-1059. Abell Katherine, Chadwell Sarah E, Burrow Thomas Andrew, Becker Ana Paula Pizzio, Bailey Laurie, Steele Paul, Zhang Xue, Islas-Ohlmayer Miguel, Bittencourt Rosane, Schwartz Ida Vanessa Doederlein, Prada Carlos |
Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease. Clinical biochemistry 2020 12 89 14-37. Thomas Divya C, Sharma Sandeepika, Puri Ratna D, Verma I C, Verma Jyots |
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 |
Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study). Diagnostics (Basel, Switzerland) 2021 6 11 (6): . Lazea Cecilia, Bucerzan Simona, Al-Khzouz Camelia, Zimmermann Anca, Vesa ?tefan Cristian, Na?cu Ioana, Cre? Victoria, Cri?an Mirela, As?voaie Carmen, Miclea Diana, Grigorescu-Sido Pau |
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 |
Risk of postpartum hemorrhage in multiparous women with Gaucher disease: A call for reconsidering enzyme replacement therapy in all pregnant patients. Journal of inherited metabolic disease 2021 4 44 (5): 1165-1173. Cohen Yael, Frydman Dafna, Rotem Reut, Kofman Roei, Zimran Ari, Revel-Vilk Shoshana, Grisaru-Granovsky Sori |
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 |
Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression. Molecular genetics and metabolism reports 2022 7 32 100895. Ridova Nevenka, Trajkova Sanja, Chonevska Biljana, Stojanoski Zlate, Ivanovski Martin, Popova-Labachevska Marija, Stojanovska-Jakimovska Simona, Filipche Venko, Sofijanova Aspazija, Panovska-Stavridis Iri |
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 |
A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease-Identifying Those at the Greatest Risk. International journal of molecular sciences 2022 10 23 (20): . Becker-Cohen Michal, Zimran Ari, Dinur Tama, Tiomkin Maayan, Cozma Claudia, Rolfs Arndt, Arkadir David, Shulman Elena, Manor Orly, Paltiel Ora, Yahalom Gilad, Berg Daniela, Revel-Vilk Shosha |
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 |
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study. Diagnostics (Basel, Switzerland) 2023 9 13 (17): . Filipa Curado, Sabine Rösner, Susanne Zielke, Gina Westphal, Ulrike Grittner, Volha Skrahina, Mohammed Alasel, Ahmad Mehmood Malik, Christian Beetz, Tobias Böttcher, Gal Barel, Ashish Prasad Sah, Tama Dinur, Nadeem Anjum, Quidad Ichraf, Yamna Kriouile, Zahra Hadipour, Fatemeh Hadipour, Shoshana Revel-Vilk, Claudia Cozma, Jörg Hartkamp, Huma Cheema, Ari Zimran, Peter Bauer, Arndt Rolfs, |
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 |
Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy. Biomolecules 2023 5 13 (4): . Pawe? Dubiela, Paulina Szyma?ska-Ro?ek, Andrzej Eljaszewicz, Patryk Lipi?ski, Piotr Hasi?ski, Dorota Giersz, Alicja Walewska, Marlena Tynecka, Marcin Moniuszko, Anna Tylki-Szyma?s |
Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease. Movement disorders : official journal of the Movement Disorder Society 2023 3 . Blauwendraat Cornelis, Tayebi Nahid, Woo Elizabeth Geena, Lopez Grisel, Fierro Luca, Toffoli Marco, Limbachiya Naomi, Hughes Derralynn, Pitz Vanessa, Patel Dhairya, Vitale Dan, Koretsky Mathew J, Hernandez Dena, Real Raquel, Alcalay Roy N, Nalls Mike A, Morris Huw R, Schapira Anthony H V, Balwani Manisha, Sidransky Ell |
Is Gauchian genotyping of GBA1 variants reliable? medRxiv : the preprint server for health sciences 2023 11 . Nahid Tayebi, Jens Lichtenberg, Ellen Hertz, Ellen Sidrans |
Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais. BMC medical genomics 2024 1 17 (1): 9. Wanna Chetruengchai, Prasit Phowthongkum, Vorasuk Shotelers |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: