Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation-Reference-Cited by-同舟云学术

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Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation

Published:2014-05-01 Issue:3 Volume:29 Page:809-812
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Durmaz Asude,Atik Tahir,Onay Hüseyin,Canda Ebru Erbaş,Uçar Sema Kalkan,Bademkıran Fikret,Çoker Mahmut,Çoğulu Özgür,Özkınay Ferda

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

http://link.springer.com/content/pdf/10.1007/s11011-014-9552-1.pdf

Reference15 articles.

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–9

2. Bezman L, Moser AB, Raymond GV, Rinaldo P, Watkins PA, Smith KD, Kass NE, Moser HW (2001) Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 49:512–517

3. Chiu HC, Liang JS, Wang JS, Lu JF (2006) Mutational analyses of Taiwanese kindred with Xlinked adrenoleukodystrophy. Pediatr Neurol 35(4):250–6

4. Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S (2014) X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain 137:693–706

5. Hershkovitz E, Narkis G, Shorer Z, Moser AB, Watkins PA, Moser HW, Manor E (2002) Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion. Ann Neurol 52:234–237. 8

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1. X-linked cerebral adrenoleukodystrophy;BMJ Case Reports;2023-10

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