Human Genome Epidemiology Literature Finder
Records 1 - 22 (of 22 Records) |
Query Trace: SMPD1[original query] |
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Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol. BMC medical genetics 2007 8 (1): 79. Dastani Zari, Ruel Isabelle L, Engert James C, Genest Jacques, Marcil Mich |
Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease. Neurobiology of aging 2013 Dec 34 (12): 2890.e13-5. Foo Jia-Nee, Liany Herty, Bei Jin-Xin, Yu Xue-Qing, Liu Jianjun, Au Wing-Lok, Prakash Kumar M, Tan Louis C, Tan Eng-Ki |
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology 2013 Apr 80 (17): 1606-10. Gan-Or Ziv, Ozelius Laurie J, Bar-Shira Anat, Saunders-Pullman Rachel, Mirelman Anat, Kornreich Ruth, Gana-Weisz Mali, Raymond Deborah, Rozenkrantz Liron, Deik Andres, Gurevich Tanya, Gross Susan J, Schreiber-Agus Nicole, Giladi Nir, Bressman Susan B, Orr-Urtreger A |
The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity. JIMD reports 2013 8 1-6. Rhein Cosima, Naumann Julia, Mühle Christiane, Zill Peter, Adli Mazda, Hegerl Ulrich, Hiemke Christoph, Mergl Roland, Möller Hans-Jürgen, Reichel Martin, Kornhuber Johann |
Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson's Disease. Molecular neurobiology 2015 Sep . Deng Sheng, Deng Xiong, Song Zhi, Xiu Xiaofei, Guo Yi, Xiao Jingjing, Deng H |
Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease. PloS one 2015 10 (5): e0125204. Clark Lorraine N, Chan Robin, Cheng Rong, Liu Xinmin, Park Naeun, Parmalee Nancy, Kisselev Sergey, Cortes Etty, Torres Paola A, Pastores Gregory M, Vonsattel Jean P, Alcalay Roy, Marder Karen, Honig Lawrence L, Fahn Stanley, Mayeux Richard, Shelanski Michael, Di Paolo Gilbert, Lee Joseph |
LRRK2, GBA and SMPD1 Founder Mutations and Parkinson's Disease in Ashkenazi Jews. Dementia and geriatric cognitive disorders 2016 Jul 42 (1-2): 1-6. Dagan Efrat, Schlesinger Ilana, Kurolap Alina, Ayoub Mareemar, Nassar Maria, Peretz-Aharon Judith, Gershoni-Baruch Ru |
SMPD1 variants in Chinese Han patients with sporadic Parkinson's disease. Parkinsonism & related disorders 2016 Oct . Mao Cheng-Yuan, Yang Jing, Wang Hui, Zhang Shu-Yu, Yang Zhi-Hua, Luo Hai-Yang, Li Fang, Shi Mengmeng, Liu Yu-Tao, Zhuang Zheng-Ping, Du Pan, Wang Yao-He, Shi Chang-He, Xu Yu-Mi |
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 |
Genetic risk factors in Finnish patients with Parkinson's disease. Parkinsonism & related disorders 2017 Sep . Ylönen Susanna, Siitonen Ari, Nalls Michael A, Ylikotila Pauli, Autere Jaana, Eerola-Rautio Johanna, Gibbs Raphael, Hiltunen Mikko, Tienari Pentti J, Soininen Hilkka, Singleton Andrew B, Majamaa Ka |
[Analysis of SMPD1 gene mutations in Chinese patients with Parkinson's disease]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 6 35 (3): 319-323. Song Na, Wang Wei, Chen Chao, Niu Jianyi, Guojin Yuxuan, Guo Cunju, Han Fab |
SMPD1 mutations, activity, and ?-synuclein accumulation in Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society 2019 2 34 (4): 526-535. Alcalay Roy N, Mallett Victoria, Vanderperre Benoît, Tavassoly Omid, Dauvilliers Yves, Wu Richard Y J, Ruskey Jennifer A, Leblond Claire S, Ambalavanan Amirthagowri, Laurent Sandra B, Spiegelman Dan, Dionne-Laporte Alexandre, Liong Christopher, Levy Oren A, Fahn Stanley, Waters Cheryl, Kuo Sheng-Han, Chung Wendy K, Ford Blair, Marder Karen S, Kang Un Jung, Hassin-Baer Sharon, Greenbaum Lior, Trempe Jean-Francois, Wolf Pavlina, Oliva Petra, Zhang Xiaokui Kate, Clark Lorraine N, Langlois Melanie, Dion Patrick A, Fon Edward A, Dupre Nicolas, Rouleau Guy A, Gan-Or Z |
Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk? Molecular genetics and metabolism 2019 Oct . Goldstein Orly, Gana-Weisz Mali, Cohen-Avinoam Danielle, Shiner Tamara, Thaler Avner, Cedarbaum Jesse M, John Sally, Lalioti Maria, Gurevich Tanya, Bar-Shira Anat, Mirelman Anat, Giladi Nir, Orr-Urtreger A |
Mutations in sphingolipid metabolism genes are associated with ADHD. Translational psychiatry 2020 7 10 (1): 231. Henriquez-Henriquez Marcela, Acosta Maria T, Martinez Ariel F, Vélez Jorge I, Lopera Francisco, Pineda David, Palacio Juan D, Quiroga Teresa, Worgall Tilla S, Deckelbaum Richard J, Mastronardi Claudio, Molina Brooke S G, , Arcos-Burgos Mauricio, Muenke Maximili |
SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder. Neurobiology of aging 2020 5 93 142.e5-142.e7. Rudakou Uladzislau, Futhey Naomi C, Krohn Lynne, Ruskey Jennifer A, Heilbron Karl, Cannon Paul, , Alam Armaghan, Arnulf Isabelle, Hu Michele T M, Montplaisir Jacques Y, Gagnon Jean-François, Desautels Alex, Dauvilliers Yves, Toffoli Marco, Gigli Gian Luigi, Valente Mariarosaria, Högl Birgit, Stefani Ambra, Holzknecht Evi, Sonka Karel, Kemlink David, Oertel Wolfang, Janzen Annette, Plazzi Giuseppe, Antelmi Elena, Figorilli Michela, Puligheddu Monica, Mollenhauer Brit, Trenkwalder Claudia, Sixel-Döring Friederike, De Cock Valérie Cochen, Monaca Christelle Charley, Heidbreder Anna, Ferini-Strambi Luigi, Dijkstra Femke, Viaene Mineke, Abril Beatriz, Boeve Bradley F, Postuma Ronald B, Rouleau Guy A, Gan-Or Z |
Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients. Pakistan journal of medical sciences 2020 4 36 (3): 479-484. Cheema Huma Arshad, Rasool Iqra Ghulam, Anjum Muhammad Nadeem, Zahoor Muhammad Yas |
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients. Journal of molecular neuroscience : MN 2021 9 72 (3): 555-564. Abtahi Rezvan, Karimzadeh Parvaneh, Rezayi Alireza, Salehpour Shadab, Akbarzadeh Diba, Tonekaboni Seyed Hassan, Emameh Reza Zolfaghari, Houshmand Masso |
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population. Frontiers in aging neuroscience 2021 12 13 749109. Zhao Yu-Wen, Pan Hong-Xu, Liu Zhenhua, Wang Yige, Zeng Qian, Fang Zheng-Huan, Luo Teng-Fei, Xu Kun, Wang Zheng, Zhou Xun, He Runcheng, Li Bin, Zhao Guihu, Xu Qian, Sun Qi-Ying, Yan Xin-Xiang, Tan Jie-Qiong, Li Jin-Chen, Guo Ji-Feng, Tang Bei-S |
Exome-Wide Association Study Reveals Host Genetic Variants Likely Associated with the Severity of COVID-19 in Patients of European Ancestry.
Life (Basel, Switzerland) 2022 Aug 12 (9): . Upadhyai Priyanka, Shenoy Pooja U, Banjan Bhavya, Albeshr Mohammed F, Mahboob Shahid, Manzoor Irfan, Das Ranaj |
SMPD1 gene variants in patients with ?-Thalassemia major. Molecular biology reports 2023 2 . Dursun Fadime Ersoy, Özen Fil |
GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023 12 . Tamás Szlepák, Annabel P Kossev, Dóra Csabán, Anett Illés, Szabolcs Udvari, Péter Balicza, Beáta Borsos, Annamária Takáts, Péter Klivényi, Mária J Moln |
Loss-of-function SMPD1 gene variant in Progressive Supranuclear Palsy-Richardson Syndrome patients of Chinese ancestry. Journal of movement disorders 2024 1 . Shen-Yang Lim, Ai Huey Tan, Jia Nee Foo, Yi Jayne Tan, Elaine Gy Chew, Azlina Ahmad Annuar, Alfand Marl Dy Closas, Azalea Pajo, Jia Lun Lim, Yi Wen Tay, Anis Nadhirah, Jia Wei Hor, Tzi Shin Toh, Lei Cheng Lit, Jannah Zulkefli, Su Juen Ngim, Weng Khong Lim, Huw R Morris, Eng-King Tan, Adeline Sl |
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