Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 28, 2023. (Total: 221530Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 11 (of 11 Records)

Query Trace: Adrenoleukodystrophy and ABCD1[original query]
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
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
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
TOP