| 1 | SACS
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| Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
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| Girard M, Larivière R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP, McPherson PS.
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| Proc Natl Acad Sci U S A 109(5):1661-6. doi: 10.1073/pnas.1113166109. Epub 2012 Jan 17.
2012
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| 2 | SACS
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| Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
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| Kozlov G, Denisov AY, Girard M, Dicaire MJ, Hamlin J, McPherson PS, Brais B, Gehring K.
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| J Biol Chem 286(23):20407-12. Epub 2011 Apr 20.
2011
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| 3 | SACS
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| Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients.
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| Pablo LE, Garcia-Martin E, Gazulla J, Larrosa JM, Ferreras A, Santorelli FM, Benavente I, Vela A, Marin MA
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| Mol Vis. 17:1871-6. 2011
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| 4 | SACS
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| The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.
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| Parfitt DA, Michael GJ, Vermeulen EG, Prodromou NV, Webb TR, Gallo JM, Cheetham ME, Nicoll WS, Blatch GL, Chapple JP.
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| Hum Mol Genet 18(9):1556-65. Epub 2009 Feb 10.
2009
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| 5 | SACS
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| A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix-Saguenay.
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| Breckpot J, Takiyama Y, Thienpont B, Van Vooren S, Vermeesch JR, Ortibus E, Devriendt K.
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| Eur J Hum Genet 16(9):1050-4. Epub 2008 Apr 9.
2008
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| 6 | SACS
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| ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
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| Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B.
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| Neurogenetics 9(3):207-14. Epub 2008 May 9. Erratum in: Neurogenetics. 2009 Feb;10(1):87.
2008
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| 7 | SACS
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| New mutation in the non-gigantic exon of SACS in Japanese siblings.
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| Takado Y, Hara K, Shimohata T, Tokiguchi S, Onodera O, Nishizawa M.
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| Mov Disord 22(5):748-9. No abstract available.
2007
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| 8 | SACS
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| Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon.
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| Ouyang Y, Takiyama Y, Sakoe K, Shimazaki H, Ogawa T, Nagano S, Yamamoto Y, Nakano I.
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| Neurology 66(7):1103-4. 2006
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| 9 | SACS
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| Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.
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| Hara K, Onodera O, Endo M, Kondo H, Shiota H, Miki K, Tanimoto N, Kimura T, Nishizawa M.
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| Mov Disord 20(3):380-2. 2005
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| 10 | SACS
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| Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
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| Criscuolo C, Sacca F, De Michele G, Mancini P, Combarros O, Infante J, Garcia A, Banfi S, Filla A, Berciano J.
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| Mov Disord 20(10):1358-61. 2005
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| 11 | SACS
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| Novel compound heterozygous mutations in sacsin-related ataxia.
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| Yamamoto Y, Hiraoka K, Araki M, Nagano S, Shimazaki H, Takiyama Y, Sakoda S.
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| J Neurol Sci 239(1):101-4. Epub 2005 Sep 29. 2005
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| 12 | SACS
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| Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
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| Grieco GS, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli FM.
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| Neurology 62(1):103-6. 2004
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| 13 | SACS
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| ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF.
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| Engert JC, Berube P, Mercier J, Dore C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melancon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A.
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| Nat Genet 24(2):120-5. 2000
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| 14 | SACS
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| Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family.
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| Mrissa N, Belal S, Hamida CB, Amouri R, Turki I, Mrissa R, Hamida MB, Hentati F.
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| Neurology 54(7):1408-14. 2000
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| 15 | SACS
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| Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of charlevoix-saguenay, in chromosome region 13q11.
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| Richter A, et al.
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| Am J Hum Genet 64(3):768-75. 1999
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| 16 | SACS
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| Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11.
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| Engert JC, Dore C, Mercier J, Ge B, Betard C, Rioux JD, Owen C, Berube P, Devon K, Birren B, Melancon SB, Morgan K, Hudson TJ, Richter A.
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| Genomics 62(2):156-64. 1999
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| 17 | ADGRL2, ADGRL3, ADNP, AKAP9, ANGEL1, ARHGAP32, ATP10B, ATP1A2, BAG5, BAIAP3, CAMKK2, CLCC1, CLSTN3, DDHD2, DDN, DDX46, DDX46, DGKB, DIP, DOCK4, DST, EIF5B, EPM2AIP1, FAM131B, FAM153A, FARP2, FCHSD2, GPR116, HDAC9, IPO13, KBTBD11, KIAA0748, KIAA0753, KIAA0754, KIAA0802, KLHL18, LARP1, LRIG2, MAST2, MTUS2, MYO10, MYO1D, NFASC, NRXN3, NUP155, OSBPL2, PCNX, PHF14, PPP1R13B, RAD54L2, RBM12, RHOBTB1, RHOBTB2, RIMS2, SACS, SASH1, SEC24A, SEC24B, SEC24C, SEC24D, SENP6, SLC4A8, SNRNP200, SNX13, SORBS2, SPATA2, SPON1, SUPT7L, SV2A, SV2B, SYNE1, TBKBP1, TCAF1, TMCC1, TMEM63A, TOMM70A, TSPYL4, UBXN7, ULK1, USP34, VPRBP, VPS39, VPS8, WSCD2, XPO7, ZBED1, ZBED1Y, ZNF294, ZNF423, ZNF432
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| Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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| Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
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| DNA Res 5(5):277-86. 1998
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