| 1 | ABHD12, PHARC
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| Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations: From Syndromic to Nonsyndromic Retinal Degeneration.
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| Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.
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| Ophthalmology 121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31.
2014
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| 2 | ABHD12, PHARC
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| Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
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| Chen DH, Naydenov A, Blankman JL, Mefford HC, Davis M, Sul Y, Barloon AS, Bonkowski E, Wolff J, Matsushita M, Smith C, Cravatt BF, Mackie K, Raskind WH, Stella N, Bird TD.
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| Hum Mutat 34(12):1672-8. doi: 10.1002/humu.22437. Epub 2013 Oct 2.
2013
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| 3 | ABHD12, PHARC
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| Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
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| Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ.
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| Orphanet J Rare Dis 7:59. doi: 10.1186/1750-1172-7-59.
2012
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| 4 | ABHD12, PHARC
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| Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
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| 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.
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| Am J Hum Genet 87(3):410-7.PMID: 2079768 2010
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| 5 | PHARC
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| A novel Refsum-like disorder that maps to chromosome 20.
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| Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA.
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| Neurology 72(1):20-7. Epub 2008 Nov 12.PMID: 19005174 2009
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