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Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H, Bindoff LA, Koenig M, Knappskog PM. Fiskerstrand T, et al. Among authors: bindoff la. Am J Hum Genet. 2010 Sep 10;87(3):410-7. doi: 10.1016/j.ajhg.2010.08.002. Am J Hum Genet. 2010. PMID: 20797687 Free PMC article.
A novel Refsum-like disorder that maps to chromosome 20.
Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA. Fiskerstrand T, et al. Among authors: bindoff la. Neurology. 2009 Jan 6;72(1):20-7. doi: 10.1212/01.wnl.0000333664.90605.23. Epub 2008 Nov 12. Neurology. 2009. PMID: 19005174
A family with atypical CADASIL.
Vedeler C, Bindoff L. Vedeler C, et al. J Neurol. 2011 Oct;258(10):1888-9. doi: 10.1007/s00415-011-6023-z. Epub 2011 Apr 5. J Neurol. 2011. PMID: 21465151 Free PMC article. No abstract available.
HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia.
Tzoulis C, Zayats T, Knappskog PM, Müller B, Larsen JP, Tysnes OB, Bindoff LA, Johansson S, Haugarvoll K. Tzoulis C, et al. Among authors: bindoff la. Proc Natl Acad Sci U S A. 2015 May 5;112(18):E2268. doi: 10.1073/pnas.1503105112. Epub 2015 Mar 30. Proc Natl Acad Sci U S A. 2015. PMID: 25825781 Free PMC article. No abstract available.
226 results