Below are the most recent publications written about "Spinocerebellar Ataxias" by people in Profiles.
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Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altm?ller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Br?stle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Sch?ls L, N?rnberg P, Zuchner S, Klockgether T, Ramirez A, Sch?le R. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 06 01; 140(6):1561-1578.
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Amato D, Canneva F, Nguyen HP, Bauer P, Riess O, von H?rsten S, M?ller CP. Capturing schizophrenia-like prodromal symptoms in a spinocerebellar ataxia-17 transgenic rat. J Psychopharmacol. 2017 04; 31(4):461-473.
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Leavitt JA, Singer W, Brown WL, Pulido JS, Brodsky MC. Retinal and pontine striations: neurodiagnostic signs of autosomal recessive spastic ataxia of Charlevoix-Saguenay. J Neuroophthalmol. 2014 Dec; 34(4):369-71.
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Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Sch?ls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014 Sep; 137(Pt 9):2444-55.
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Kelp A, Koeppen AH, Petrasch-Parwez E, Calaminus C, Bauer C, Portal E, Yu-Taeger L, Pichler B, Bauer P, Riess O, Nguyen HP. A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers. J Neurosci. 2013 May 22; 33(21):9068-81.
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Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Sch?le R, Haack TB, Sch?ning M, Biskup S, Rudnik-Sch?neborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Kr?ger S, Kreuz F, Bauer P, Sch?ls L. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis. 2013 Mar 15; 8:41.
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Wong AL, Shelhamer M. Using prediction errors to drive saccade adaptation: the implicit double-step task. Exp Brain Res. 2012 Oct; 222(1-2):55-64.
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Synofzik M, Beetz C, Bauer C, Bonin M, Sanchez-Ferrero E, Schmitz-H?bsch T, W?llner U, N?gele T, Riess O, Sch?ls L, Bauer P. Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features. J Med Genet. 2011 Jun; 48(6):407-12.
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Bauer P, Stevanin G, Beetz C, Synofzik M, Schmitz-H?bsch T, W?llner U, Berthier E, Ollagnon-Roman E, Riess O, Forlani S, Mundwiller E, Durr A, Sch?ls L, Brice A. Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. J Neurol Neurosurg Psychiatry. 2010 Nov; 81(11):1229-32.
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Braddock SR, Henley KM, Maria BL. The face of Joubert syndrome: a study of dysmorphology and anthropometry. Am J Med Genet A. 2007 Dec 15; 143A(24):3235-42.