| 1 | DDHD2, SPG54
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| Distinct neuroimaging features of DDHD2 gene-related spastic paraplegia, a mimicker of cerebral palsy
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| Thabet F, Tlili-Graiess K, Tabarki B.
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| Arch Dis Child. May;105(5):482. doi: 10.1136/archdischild-2018-316484. Epub 2019 Jan 31. 2020
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| 2 | DDHD2, SPG54
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| Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis.
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| Maruyama T, Baba T, Maemoto Y, Hara-Miyauchi C, Hasegawa-Ogawa M, Okano HJ, Enda Y, Matsumoto K, Arimitsu N, Nakao K, Hamamoto H, Sekimizu K, Ohto-Nakanishi T, Nakanishi H, Tokuyama T, Yanagi S, Tagaya M, Tani K.
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| Cell Death Dis. Jul 23;9(8):797. doi: 10.1038/s41419-018-0815-3. 2018
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| 3 | DDHD2, SPG54
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| Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).
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| Alrayes N, Mohamoud HS, Jelani M, Ahmad S, Vadgama N, Bakur K, Simpson M, Al-Aama JY, Nasir J.
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| BMC Res Notes Jun 27;8:271. doi: 10.1186/s13104-015-1227-4. 2015
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| 4 | DDHD2, SPG54
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| The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase
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| Inloes JM, Hsu KL, Dix MM, Viader A, Masuda K, Takei T, Wood MR, Cravatt BF
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| Proc Natl Acad Sci U S A. Oct 14;111(41):14924-9. doi: 10.1073/pnas.1413706111. Epub 2014 Sep 29. 2014
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| 5 | DDHD2, SPG54
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| Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
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| Gonzalez M, Nampoothiri S, Kornblum C, Oteyza AC, Walter J, Konidari I, Hulme W, Speziani F, Schöls L, Züchner S, Schüle R.
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| Eur J Hum Genet. 2013
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| 6 | AHDS, SPART, SPG1, SPG10, SPG11, SPG12, SPG13, SPG14, SPG15, SPG16, SPG17, SPG19, SPG2, SPG21, SPG23, SPG24, SPG25, SPG26, SPG27, SPG28, SPG29, SPG30, SPG31, SPG32, SPG33, SPG35, SPG36, SPG37, SPG38, SPG39, SPG41, SPG41, SPG42, SPG43, SPG44, SPG45, SPG46, SPG47, SPG48, SPG49, SPG50, SPG51, SPG52, SPG53, SPG54, SPG55, SPG56
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| Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
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| Fink JK.
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| Acta Neuropathol 126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. 2013
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| 7 | BCORL1, CRTRD, DDHD2, IDBDD, MCM3AP, PNRIID, PTPRT, SLC6A8, SPG54, SYNE1, ZNF528
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| Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
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| Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, Fichera M, Galesi O, Kleefstra T, Greally MT, Ockeloen CW, Willemsen MH, Bongers EM, Janssen IM, Pfundt R, Veltman JA, Romano C, Willemsen MA, van Bokhoven H, Brunner HG, de Vries BB, de Brouwer AP.
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| J Med Genet. Dec;50(12):802-11. doi: 10.1136/jmedgenet-2013-101644. Epub 2013 Oct 11. 2013
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| 8 | DDHD2, SPG54
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| Mutations in DDHD2, Encoding an Intracellular Phospholipase A(1), Cause a Recessive Form of Complex Hereditary Spastic Paraplegia.
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| Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Höller I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J; FORGE Canada Consortium, Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA, Schenck A, Al-Gazali L, de Vries BB, de Brouwer AP.
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| Am J Hum Genet 91(6):1073-81. doi: 10.1016/j.ajhg.2012.10.017. Epub 2012 Nov 21.
2012
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