Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 143 Records) |
| Query Trace: Gaucher Disease[original query] |
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| 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 |
| Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome. Journal of human genetics 2024 7 . Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Masaki Tanaka, Junko Nomoto, Hiroyuki Ishiura, Yosuke Omae, Yosuke Kawai, Katsushi Tokunaga, , Tatsushi Toda, Shoji Tsu |
| Genome-wide determinants of mortality and motor progression in Parkinson's disease. NPJ Parkinson's disease 2024 6 10 (1): 113. Manuela M X Tan, Michael A Lawton, Miriam I Pollard, Emmeline Brown, Raquel Real, Alejandro Martinez Carrasco, Samir Bekadar, Edwin Jabbari, Regina H Reynolds, Hirotaka Iwaki, Cornelis Blauwendraat, Sofia Kanavou, Leon Hubbard, Naveed Malek, Katherine A Grosset, Nin Bajaj, Roger A Barker, David J Burn, Catherine Bresner, Thomas Foltynie, Nicholas W Wood, Caroline H Williams-Gray, Ole A Andreassen, Mathias Toft, Alexis Elbaz, Fanny Artaud, Alexis Brice, Jean-Christophe Corvol, Jan Aasly, Matthew J Farrer, Michael A Nalls, Andrew B Singleton, Nigel M Williams, Yoav Ben-Shlomo, John Hardy, Michele T M Hu, Donald G Grosset, Maryam Shoai, Lasse Pihlstrøm, Huw R Morr |
| Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease. Parkinsonism & related disorders 2024 6 124 107023. Massimo Marano, Carmela Zizzo, Maria Chiara Malaguti, Ruggero Bacchin, Francesco Cavallieri, Rosa De Micco, Francesca Spagnolo, Anna Rita Bentivoglio, Tommaso Schirinzi, Roberta Bovenzi, Silvia Ramat, Roberto Erro, Cristiano Sorrentino, Patrizia Sucapane, Andrea Pilotto, Alessandro Lupini, Alessandro Magliozzi, Ilaria Di Vico, Miryam Carecchio, Giulia Bonato, Roberto Cilia, Fabiana Colucci, Filippo Tamma, Elena Caputo, Giovanni Mostile, Gennarina Arabia, Nicola Modugno, Maurizio Zibetti, Maria Gabriella Ceravolo, Nicola Tambasco, Giovanni Cossu, Franco Valzania, Paolo Manganotti, Vincenzo Di Lazzaro, Mario Zappia, Giovanni Fabbrini, Michele Tinazzi, Alessandro Tessitore, Giovanni Duro, Alessio Di Fon |
| Functional Analysis of Human GBA1 Missense Mutations in Drosophila: Insights into Gaucher Disease Pathogenesis and Phenotypic Consequences. Cells 2024 10 13 (19): . Aparna Kuppuramalingam, Or Cabasso, Mia Horowi |
| 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
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