Human Genome Epidemiology Literature Finder
Records 1 - 17 (of 17 Records) |
Query Trace: ABCD1[original query] |
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Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. Neurogenetics 2011 Feb 12 (1): 41-50. Matsukawa Takashi, Asheuer Muriel, Takahashi Yuji, Goto Jun, Suzuki Yasuyuki, Shimozawa Nobuyuki, Takano Hiroki, Onodera Osamu, Nishizawa Masatoyo, Aubourg Patrick, Tsuji Sho |
SOD2 as a potential modifier of X-linked adrenoleukodystrophy clinical phenotypes. Journal of neurology 2012 Jul 259 (7): 1440-7. Brose Rebecca Deering, Avramopoulos Dimitri, Smith Kirby |
CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy. PloS one 2012 7 (1): e29872. Barbier Mathieu, Sabbagh Audrey, Kasper Edwige, Asheuer Muriel, Ahouansou Ornella, Pribill Ingrid, Forss-Petter Sonja, Vidaud Michel, Berger Johannes, Aubourg Patri |
Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China. Metabolic brain disease 2015 Aug . Jiang Min-Yan, Cai Yan-Na, Liang Cui-Li, Peng Min-Zhi, Sheng Hui-Ying, Fan Li-Ping, Lin Rui-Zhu, Jiang Hua, Huang Yonglan, Liu |
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. Journal of the neurological sciences 2016 May 364 116-21. Balicza Peter, Grosz Zoltan, Gonzalez Michael A, Bencsik Renata, Pentelenyi Klara, Gal Aniko, Varga Edina, Klivenyi Peter, Koller Julia, Züchner Stephan, Molnar Judit Mar |
Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy. Scientific reports 2019 May 9 (1): 7858. Orchard Paul J, Markowski Todd W, Higgins LeeAnn, Raymond Gerald V, Nascene David R, Miller Weston P, Pierpont Elizabeth I, Lund Troy |
[Genetic analysis of a pedigree affected with X-linked adrenoleukodystrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 11 36 (11): 1104-1106. Pan Qinqing, Zheng Xiaosheng, Cen Zhidong, Luo W |
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy. Scientific reports 2020 9 10 (1): 15093. Rattay Tim W, Rautenberg Maren, Söhn Anne S, Hengel Holger, Traschütz Andreas, Röben Benjamin, Hayer Stefanie N, Schüle Rebecca, Wiethoff Sarah, Zeltner Lena, Haack Tobias B, Cegan Alexander, Schöls Ludger, Schleicher Erwin, Peter Andre |
Whole exome sequencing identifies the novel putative gene variants related with type 2 diabetes in Mizo population, northeast India. Gene 2020 10 769 145229. Lalrohlui Freda, Zohmingthanga John, Hruaii Vanlal, Vanlallawma Andrew, Senthil Kumar Nachimut |
X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations. Neuro endocrinology letters 2021 9 42 (5): 359-367. Zemanova Marketa, Chrastina Petr, Dvorakova Lenka, Reboun Martin, Vlaskova Hana, Jahnova Helena, El-Lababidi Nabil, Cepova Jana, Honzik Tomas, Zeman Ji |
Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype. Parkinsonism & related disorders 2021 10 92 7-12. Hsu Shao-Lun, Chen Ying-Hao, Chou Cheng-Ta, Chou Ying-Tsen, Tsai Yu-Shuen, Hsiao Cheng-Tsung, Liao Yi-Chu, Lee Yi-Chu |
Glycoprotein nonmetastatic melanoma protein B (GNMPB) as a novel biomarker for cerebral adrenoleukodystrophy. Scientific reports 2022 5 12 (1): 7985. Taghizadeh Leyla A, King Carina J, Nascene David R, Gupta Ashish O, Orchard Paul J, Higgins LeeAnn, Markowski Todd W, Nolan Erin E, Furcich Justin W, Lund Troy |
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients. Brain : a journal of neurology 2022 11 . Wu Chujun, Wang Mengwen, Wang Xingao, Li Wei, Li Shaowu, Chen Bin, Niu Songtao, Tai Hongfei, Pan Hua, Zhang Zaiqia |
A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder. American journal of medical genetics. Part A 2023 5 . Carolina I Galarreta, Karen Wong, Jason Carmichael, Jeremy Woods, Christina G Tise, Annie D Niehaus, Alison J Schildt, Courtney P Verscaj, Kristina P Cusmano-Oz |
Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders. Italian journal of pediatrics 2023 11 49 (1): 155. Liling Dong, Li Shang, Caiyan Liu, Chenhui Mao, Xinying Huang, Shanshan Chu, Bin Peng, Liying Cui, Jing G |
A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population. Clinica chimica acta; international journal of clinical chemistry 2023 11 117653. Chengfang Tang, Fang Tang, Yanna Cai, Minyi Tan, Sichi Liu, Ting Xie, Xiang Jiang, Yonglan Hua |
Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing. Epilepsy research 2023 1 190 107094. Duc Nguyen Minh, Thu Nguyen Thuy Minh, Bui Chi-Bao, Hoa Giang, Le Trung Hieu Nguy |
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- Page last updated:Apr 22, 2024
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