Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 25 (of 25 Records) |
Query Trace: Niemann-pick Disease[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 |
Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population. Journal of human genetics 2009 Dec 54 (12): 727-31. Hotta Kikuko, Nakamura Michihiro, Nakamura Takahiro, Matsuo Tomoaki, Nakata Yoshio, Kamohara Seika, Miyatake Nobuyuki, Kotani Kazuaki, Komatsu Ryoya, Itoh Naoto, Mineo Ikuo, Wada Jun, Masuzaki Hiroaki, Yoneda Masato, Nakajima Atsushi, Funahashi Tohru, Miyazaki Shigeru, Tokunaga Katsuto, Kawamoto Manabu, Ueno Takato, Hamaguchi Kazuyuki, Tanaka Kiyoji, Yamada Kentaro, Hanafusa Toshiaki, Oikawa Shinichi, Yoshimatsu Hironobu, Nakao Kazuwa, Sakata Toshiie, Matsuzawa Yuji, Kamatani Naoyuki, Nakamura Yusu |
Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels. Arteriosclerosis, thrombosis, and vascular biology 2010 Aug 30 (8): 1614-20. Uronen Riikka-Liisa, Lundmark Per, Orho-Melander Marju, Jauhiainen Matti, Larsson Kristina, Siegbahn Agneta, Wallentin Lars, Zethelius Björn, Melander Olle, Syvänen Ann-Christine, Ikonen Eli |
Influence of physical inactivity on associations between single nucleotide polymorphisms and genetic predisposition to childhood obesity. American journal of epidemiology 2011 Jun 173 (11): 1256-62. Xi Bo, Wang Chunyu, Wu Lijun, Zhang Meixian, Shen Yue, Zhao Xiaoyuan, Wang Xingyu, Mi J |
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1. American journal of medical genetics. Part A 2012 Nov 158A (11): 2775-80. Fu Rao, Yanjanin Nicole M, Elrick Matthew J, Ware Christopher, Lieberman Andrew P, Porter Forbes |
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 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 |
NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening. Journal of neurology 2015 Sep . Synofzik Matthis, Harmuth Florian, Stampfer Miriam, Müller Vom Hagen Jennifer, Schöls Ludger, Bauer Pet |
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Mar . Wassif Christopher A, Cross Joanna L, Iben James, Sanchez-Pulido Luis, Cougnoux Antony, Platt Frances M, Ory Daniel S, Ponting Chris P, Bailey-Wilson Joan E, Biesecker Leslie G, Porter Forbes |
Allelic Frequency of a 24-bp Duplication in Exon 10 of the CHIT1 Gene in the General Iranian Population. Genetic testing and molecular biomarkers 2015 Dec . Motlagh Behrooz, Taghikhani Mohammad, Khatami Shohreh, Zamanfar Dani |
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 |
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. Human molecular genetics 2018 Jul . Qiao Dandi, Ameli Asher, Prokopenko Dmitry, Chen Han, Kho Alvin T, Parker Margaret M, Morrow Jarrett, Hobbs Brian D, Liu Yanhong, Beaty Terri H, Crapo James D, Barnes Kathleen C, Nickerson Deborah A, Bamshad Michael, Hersh Craig P, Lomas David A, Agusti Alvar, Make Barry J, Calverley Peter M A, Donner Claudio F, Wouters Emiel F, Vestbo Jørgen, Paré Peter D, Levy Robert D, Rennard Stephen I, Tal-Singer Ruth, Spitz Margaret R, Sharma Amitabh, Ruczinski Ingo, Lange Christoph, Silverman Edwin K, Cho Michael |
Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer's dementia. Orphanet journal of rare diseases 2018 6 13 (1): 91. Johnen Andreas, Pawlowski Matthias, Duning Thom |
Mitochondrial G8292A and C8794T mutations in patients with Niemann-Pick disease type C. Biomedical reports 2018 6 9 (1): 65-73. Masserrat Abbas, Sharifpanah Fatemeh, Akbari Leila, Tonekaboni Seyed Hasan, Karimzadeh Parvaneh, Asharafi Mahmood Reza, Mazouei Safoura, Sauer Heinrich, Houshmand Masso |
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 |
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene. Molecular neurobiology 2019 3 56 (9): 6426-6435. Polese-Bonatto Márcia, Bock Hugo, Farias Ana Carolina S, Mergener Rafaella, Matte Maria Cristina, Gil Mirela S, Nepomuceno Felipe, Souza Fernanda T S, Gus Rejane, Giugliani Roberto, Saraiva-Pereira Maria Lui |
Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease. Neurobiology of aging 2020 Apr . Ouled Amar Bencheikh Bouchra, Senkevich Konstantin, Rudakou Uladzislau, Yu Eric, Mufti Kheireddin, Ruskey Jennifer A, Asayesh Farnaz, Laurent Sandra B, Spiegelman Dan, Fahn Stanley, Waters Cheryl, Monchi Oury, Dauvilliers Yves, Espay Alberto J, Dupré Nicolas, Greenbaum Lior, Hassin-Baer Sharon, Rouleau Guy A, Alcalay Roy N, Fon Edward 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 |
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1. Scientific reports 2020 11 10 (1): 18787. Chiorean Andreea, Garver William S, Meyre Dav |
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 |
NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts. Neurobiology of aging 2023 4 . Somerville Emma N, Krohn Lynne, Yu Eric, Rudakou Uladzislau, Senkevich Konstantin, Ruskey Jennifer A, Asayesh Farnaz, Ahmad Jamil, Spiegelman Dan, Dauvilliers Yves, Arnulf Isabelle, Hu Michele T M, Montplaisir Jacques Y, Gagnon Jean-François, Desautels Alex, Ibrahim Abubaker, Stefani Ambra, Högl Birgit, Gigli Gian Luigi, Valente Mariarosaria, Janes Francesco, Bernardini Andrea, Dusek Petr, Sonka Karel, Kemlink David, Plazzi Giuseppe, Antelmi Elena, Biscarini Francesco, Mollenhauer Brit, Trenkwalder Claudia, Sixel-Doring Friederike, Figorilli Michela, Puligheddu Monica, De Cock Valerie Cochen, Oertel Wolfgang, Janzen Annette, Ferini-Strambi Luigi, Heibreder Anna, Monaca Christelle Charley, Abril Beatriz, Dijkstra Femke, Viaene Mineke, Boeve Bradley F, Postuma Ronald B, Rouleau Guy A, Gan-Or Z |
SMPD1 gene variants in patients with ?-Thalassemia major. Molecular biology reports 2023 2 . Dursun Fadime Ersoy, Özen Fil |
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1. Journal of inherited metabolic disease 2023 12 . Huan Liang, Xia Zhan, Yu Wang, Gustavo H B Maegawa, Huiwen Zha |
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods. Orphanet journal of rare diseases 2024 4 19 (1): 159. Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Ya |
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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- Page last updated:Apr 22, 2024
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