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Lai RY, Rummey C, Amlang CJ, Lin CY, Chen TX, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Ying SH, Onyike CU, Zesiewicz TA, Bushara KO, Geschwind MD, Figueroa KP, Pulst SM, Subramony SH, Burns MR, Opal P, Duquette A, Ashizawa T, Hamedani AG, Davis MY, Srinivasan SR, Moore LR, Shakkottai VG, Rosenthal LS, Kuo SH 2024 May 11 496-503Longitudinal single-cell transcriptional dynamics throughout neurodegeneration in SCA1
Tejwani L, Ravindra NG, Lee C, Cheng Y, Nguyen B, Luttik K, Ni L, Zhang S, Morrison LM, Gionco J, Xiang Y, Yoon J, Ro H, Haidery F, Grijalva RM, Bae E, Kim K, Martuscello RT, Orr HT, Zoghbi HY, McLoughlin HS, Ranum LP, Shakkottai VG, Faust PL, Wang S, van Dijk D, Lim J 2024 Feb 112 362-383.e15Deriving early single-rosette brain organoids from human pluripotent stem cells
Tidball AM, Niu W, Ma Q, Takla TN, Walker JC, Margolis JL, Mojica-Perez SP, Sudyk R, Deng L, Moore SJ, Chopra R, Shakkottai VG, Murphy GG, Yuan Y, Isom LL, Li JZ, Parent JM 2023 Dec 18 2498-2514The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications
Selvadurai LP, Perlman SL, Wilmot GR, Subramony SH, Gomez CM, Ashizawa T, Paulson HL, Onyike CU, Rosenthal LS, Sair HI, Kuo SH, Ratai EM, Zesiewicz TA, Bushara KO, Öz G, Dietiker C, Geschwind MD, Nelson AB, Opal P, Yacoubian TA, Nopoulos PC, Shakkottai VG, Figueroa KP, Pulst SM, Morrison PE, Schmahmann JD 2023 Oct 22 790-809Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias
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Bushart DD, Shakkottai VG 2022 Jun 16Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups
Kaivola K, Shah Z, Chia R, Black SE, Gan-Or Z, Keith J, Masellis M, Rogaeva E, Brice A, Lesage S, Xiromerisiou G, Calvo A, Canosa A, Chio A, Logroscino G, Mora G, Krüger R, May P, Alcolea D, Clarimon J, Fortea J, Gonzalez-Aramburu I, Infante J, Lage C, Lleó A, Pastor P, Sanchez-Juan P, Brett F, Aarsland D, Al-Sarraj S, Attems J, Gentleman S, Hardy JA, Hodges AK, Love S, Mckeith IG, Morris CM, Morris HR, Palmer L, Pickering-Brown S, Ryten M, Thomas AJ, Troakes C, Albert MS, Barrett MJ, Beach TG, Bekris LM, Bennett DA, Boeve BF, Dalgard CL, Dawson TM, Dickson DW, Faber K, Ferman T, Ferrucci L, Flanagan ME, Foroud TM, Ghetti B, Gibbs JR, Goate A, Goldstein DS, Graff-Radford NR, Kaufmann H, Kukull WA, Leverenz JB, Mao Q, Masliah E, Monuki E, Newell KL, Palma JA, Pletnikova O, Renton AE, Resnick SM, Rosenthal LS, Ross OA, Scherzer CR, Serrano GE, Shakkottai VG, Sidransky E, Tanaka T, Topol E, Torkamani A, Troncoso JC, Woltjer R, Wszolek ZK, Scholz SW 2022 May 145 1757-1762THAP1 modulates oligodendrocyte maturation by regulating ECM degradation in lysosomes
Yellajoshyula D, Pappas SS, Rogers AE, Choudhury B, Reed X, Ding J, Cookson MR, Shakkottai VG, Giger RJ, Dauer WT 2021 Aug 118A Chlorzoxazone-Baclofen Combination Improves Cerebellar Impairment in Spinocerebellar Ataxia Type 1
Bushart DD, Huang H, Man LJ, Morrison LM, Shakkottai VG 2021 Mar 36 622-631In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3
Costa Md, Radzwion M, McLoughlin HS, Ashraf NS, Fischer S, Shakkottai VG, Maciel P, Paulson HL, Öz G 2020 Oct 35 1774-1786Multiple system atrophy pathology is associated with primary Sjögren’s syndrome
Conway KS, Camelo-Piragua S, Fisher-Hubbard A, Perry WR, Shakkottai VG, Venneti S 2020 Aug 5The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3
Gan SR, Figueroa KP, Xu HL, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Rosenthal L, Ashizawa T, Pulst SM, Wang N, Kuo SH 2020 Mar 72 37-43Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy
Kuo ME, Antonellis A, Shakkottai VG 2020 Feb 19 154-160Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann-Pick diseases
Schultz ML, Fawaz MV, Azaria RD, Hollon TC, Liu EA, Kunkel TJ, Halseth TA, Krus KL, Ming R, Morin EE, McLoughlin HS, Bushart DD, Paulson HL, Shakkottai VG, Orringer DA, Schwendeman AS, Lieberman AP 2019 Nov 17Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor
Lai RY, Tomishon D, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SH 2019 Jun 18 519-526COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration
Caglayan AO, Gumus H, Sandford E, Kubisiak TL, Ma Q, Ozel AB, Per H, Li JZ, Shakkottai VG, Burmeister M 2019 Jun 18 665-669MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias
Brown AS, Meera P, Altindag B, Chopra R, Perkins EM, Paul S, Scoles DR, Tarapore E, Magri J, Huang H, Jackson M, Shakkottai VG, Otis TS, Pulst SM, Atwood SX, Oro AE 2018 Dec 115 E12407-E12416Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD
Schultz ML, Krus KL, Kaushik S, Dang D, Chopra R, Qi L, Shakkottai VG, Cuervo AM, Lieberman AP 2018 Dec 9Oligonucleotide therapy mitigates disease in spinocerebellar ataxia type 3 mice
McLoughlin HS, Moore LR, Chopra R, Komlo R, McKenzie M, Blumenstein KG, Zhao H, Kordasiewicz HB, Shakkottai VG, Paulson HL 2018 Jul 84 64-77Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJ, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M 2018 Jun 83 1075-1088C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias
Figueroa KP, Gan SR, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Pulst SM, Kuo SH 2018 Mar 33 497-498Postural tremor and ataxia progression in spinocerebellar ataxias
Gan SR, Wang J, Figueroa KP, Pulst SM, Tomishon D, Lee D, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo SH 2017 Oct 7Polyglutamine spinocerebellar ataxias-from genes to potential treatments
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Luo L, Wang J, Lo RY, Figueroa KP, Pulst SM, Kuo PH, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SH 2017 Jun 16 615-622Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia
Shakkottai VG, Batla A, Bhatia K, Dauer WT, Dresel C, Niethammer M, Eidelberg D, Raike RS, Smith Y, Jinnah HA, Hess EJ, Meunier S, Hallett M, Fremont R, Khodakhah K, LeDoux MS, Popa T, Gallea C, Lehericy S, Bostan AC, Strick PL 2017 Apr 16 577-594Depression and clinical progression in spinocerebellar ataxias
Lo RY, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez C, Schmahmann J, Paulson H, Shakkottai VG, Ying S, Zesiewicz T, Bushara K, Geschwind M, Xia G, Yu JT, Lee LE, Ashizawa T, Subramony SH, Kuo SH 2016 Jan 22 87-92Precision medicine in spinocerebellar ataxias: Treatment based on common mechanisms of disease
Bushart DD, Murphy GG, Shakkottai VG 2016 Jan 4Clinical evaluation of eye movements in spinocerebellar ataxias: A prospective multicenter study
Moscovich M, Okun MS, Favilla C, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez C, Schmahmann J, Paulson H, Shakkottai V, Ying S, Zesiewicz T, Kuo SH, Mazzoni P, Bushara K, Xia G, Ashizawa T, Subramony SH 2015 Mar 35 16-21The Role for Alterations in Neuronal Activity in the Pathogenesis of Polyglutamine Repeat Disorders
Chopra R, Shakkottai VG 2014 Oct 11 751-763Alterations in cerebellar physiology are associated with a stiff-legged gait in Atcayji-hes mice
Luna-Cancalon K, Sikora KM, Pappas SS, Singh V, Wulff H, Paulson HL, Burmeister M, Shakkottai VG 2014 Jul 67 140-148Translating cerebellar Purkinje neuron physiology to progress in dominantly inherited ataxia
Chopra R, Shakkottai VG 2014 Mar 9 187-196Clinical Neurogenetics: Autosomal Dominant Spinocerebellar Ataxia
Shakkottai VG, Fogel BL 2013 Nov 31 987-1007Toward RNAi therapy for the polyglutamine disease Machado-Joseph disease
Do Carmo Costa M, Luna-Cancalon K, Fischer S, Ashraf NS, Ouyang M, Dharia RM, Martin-Fishman L, Yang Y, Shakkottai VG, Davidson BL, Rodríguez-Lebrón E, Paulson HL 2013 Oct 21 1898-1908Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration
Elrick MJ, Pacheco CD, Yu T, Dadgar N, Shakkottai VG, Ware C, Paulson HL, Lieberman AP 2010 Mar 19 837-847FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons
Shakkottai VG, Xiao M, Xu L, Wong M, Nerbonne JM, Ornitz DM, Yamada KA 2009 Jan 33 81-88Physiologic alterations in ataxia: Channeling changes into novel therapies
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Kolski-Andreaco A, Tomita H, Shakkottai VG, Gutman GA, Cahalan MD, Gargus JJ, Chandy KG 2004 Feb 279 6893-6904Enhanced neuronal excitability in the absence of neurodegeneration induces cerebellar ataxia
Shakkottai VG, Chou CH, Oddo S, Sailer CA, Knaus HG, Gutman GA, Barish ME, LaFerla FM, Chandy KG 2004 Feb 113 582-590Genomic organization and promoter analysis of human KCNN3 gene
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