| 1 | ALS5, CMT2X, SPG11
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| ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
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| Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A.
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| Brain 139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10.
2016
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| 2 | SPG11, SPG15, ZFYVE26
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| Interaction Between AP-5 and the Hereditary Spastic Paraplegia Proteins SPG11 and SPG15.
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| Hirst J, Borner GH, Edgar J, Hein MY, Mann M, Buchholz F, Antrobus R, Robinson MS.
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| Mol Biol Cell. 2013
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| 3 | 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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| 4 | SPG11
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| Immunohistochemical localization of spatacsin in α-synucleinopathies.
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| Kuru S, Yoshida M, Tatsumi S, Mimuro M.
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| Neuropathology. 2013
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| 5 | SPG11, ZFYVE26
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| Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish.
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| Martin E, Yanicostas C, Rastetter A, Naini SM, Maouedj A, Kabashi E, Rivaud-Péchoux S, Brice A, Stevanin G, Soussi-Yanicostas N.
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| Neurobiol Dis. 48(3):299-308. 2012
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| 6 | AP5Z1, SPG11, SPG15, SPG48, ZFYVE26
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| A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.
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| Słabicki M, Theis M, Krastev DB, Samsonov S, Mundwiller E, Junqueira M, Paszkowski-Rogacz M, Teyra J, Heninger AK, Poser I, Prieur F, Truchetto J, Confavreux C, Marelli C, Durr A, Camdessanche JP, Brice A, Shevchenko A, Pisabarro MT, Stevanin G, Buchholz F.
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| PLoS Biol. 8(6):e1000408. 2010
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| 7 | SPG11
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| Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
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| Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Della Giustina E, Calabrese O, Melone MA, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, van der Knaap MS, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM.
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| Hum Mutat 30(3):E500-19.
2009
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| 8 | SPG11
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| Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.
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| Crimella C, Arnoldi A, Crippa F, Mostacciuolo ML, Boaretto F, Sironi M, D'Angelo MG, Manzoni S, Piccinini L, Turconi AC, Toscano A, Musumeci O, Benedetti S, Fazio R, Bresolin N, Daga A, Martinuzzi A, Bassi MT.
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| J Med Genet 46(5):345-51. Epub 2009 Feb 5.
2009
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| 9 | SPG11
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| SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
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| Orlén H, Melberg A, Raininko R, Kumlien E, Entesarian M, Söderberg P, Påhlman M, Darin N, Kyllerman M, Holmberg E, Engler H, Eriksson U, Dahl N.
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| Am J Med Genet B Neuropsychiatr Genet 150B(7):984-92.PMID: 19194956 2009
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| 10 | SPG11
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| Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum.
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| Lee MJ, Cheng TW, Hua MS, Pan MK, Wang J, Stephenson DA, Yang CC.
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| J Neurol Neurosurg Psychiatry 79(5):607-9. No abstract available. 2008
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| 11 | SPG11
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| Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.
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| Zhang SS, Chen Q, Chen XP, Wang JG, Burgunder JM, Shang HF, Burgunder JM, Yang Y.
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| Mov Disord 23(6):917-9. No abstract available. 2008
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| 12 | SPG11
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| SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.
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| Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A.
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| Neurology 70(16 Pt 2):1384-9. Epub 2008 Mar 12. 2008
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| 13 | SPG11, SPG15
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| Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.
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| Boukhris A, Stevanin G, Feki I, Denis E, Elleuch N, Miladi MI, Truchetto J, Denora P, Belal S, Mhiri C, Brice A.
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| Arch Neurol 65(3):393-402. 2008
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| 14 | SPG11
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| SPG11--the most common type of recessive spastic paraplegia in Norway?
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| Erichsen AK, Stevanin G, Denora P, Brice A, Tallaksen CM.
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| Acta Neurol Scand Suppl 188:46-50.PMID: 18439221 2008
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| 15 | SPG11
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| Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
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| Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A.
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| Nat Genet 39(3):366-372. Epub 2007 Feb 18. 2007
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| 16 | SPG11
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| SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
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| Del Bo R, Di Fonzo A, Ghezzi S, Locatelli F, Stevanin G, Costa A, Corti S, Bresolin N, Comi GP.
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| Neurogenetics 8(4):301-5. Epub 2007 Aug 24. 2007
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| 17 | SPG11
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| Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.
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| Olmez A, Uyanik G, OzgŸl RK, Gross C, Cirak S, Elibol B, Anlar B, Winner B, Hehr U, Topaloglu H, Winkler J.
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| Neuropediatrics 37(2):59-66. 2006
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| 18 | SPG11, SPG18
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| A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.
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| Al-Yahyaee S, Al-Gazali LI, De Jonghe P, Al-Barwany H, Al-Kindi M, De Vriendt E, Chand P, Koul R, Jacob PC, Gururaj A, Sztriha L, Parrado A, Van Broeckhoven C, Bayoumi RA.
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| Neurology 66(8):1230-4.
2006
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| 19 | SPG11
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| Significant linkage of Parkinson disease to chromosome 2q36-37.
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| Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, Conneally PM, Foroud T; Parkinson Study Group.
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| Am J Hum Genet 72(4):1053-7. Epub 2003 Mar 13. 2003
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| 20 | SPG11
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| Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15.
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| Shibasaki Y, Tanaka H, Iwabuchi K, Kawasaki S, Kondo H, Uekawa K, Ueda M, Kamiya T, Katayama Y, Nakamura A, Takashima H, Nakagawa M, Masuda M, Utsumi H, Nakamuro T, Tada K, Kurohara K, Inoue K, Koike F, Sakai T, Tsuji S, Kobayashi H.
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| Ann Neurol 48(1):108-12. 2000
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| 21 | SPG11
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| Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.
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| Martinez Murillo F, et al.
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| Neurology 53(1):50-6 1999
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