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Items: 1 to 50 of 128

1.

Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

Zesiewicz TA, Wilmot G, Kuo SH, Perlman S, Greenstein PE, Ying SH, Ashizawa T, Subramony SH, Schmahmann JD, Figueroa KP, Mizusawa H, Schöls L, Shaw JD, Dubinsky RM, Armstrong MJ, Gronseth GS, Sullivan KL.

Neurology. 2018 Feb 9. pii: 10.1212/WNL.0000000000005055. doi: 10.1212/WNL.0000000000005055. [Epub ahead of print]

PMID:
29440566
2.

C9orf72 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.

Mov Disord. 2017 Nov 29. doi: 10.1002/mds.27258. [Epub ahead of print] No abstract available.

PMID:
29193335
3.

Correction to: SPG7 and Impaired Emotional Communication.

Zhang L, McFarland KN, Subramony SH, Heilman KM, Ashizawa T.

Cerebellum. 2017 Dec;16(5-6):991. doi: 10.1007/s12311-017-0901-6.

PMID:
29181771
4.

Dystonia and ataxia progression in spinocerebellar ataxias.

Kuo PH, Gan SR, Wang J, Lo RY, Figueroa KP, Tomishon D, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo SH.

Parkinsonism Relat Disord. 2017 Dec;45:75-80. doi: 10.1016/j.parkreldis.2017.10.007. Epub 2017 Oct 23.

PMID:
29089256
5.

Postural 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.

Tremor Other Hyperkinet Mov (N Y). 2017 Oct 9;7:492. doi: 10.7916/D8GM8KRH. eCollection 2017.

6.

Impact of diabetes in the Friedreich ataxia clinical outcome measures study.

McCormick A, Farmer J, Perlman S, Delatycki M, Wilmot G, Matthews K, Yoon G, Hoyle C, Subramony SH, Zesiewicz T, Lynch DR, McCormack SE.

Ann Clin Transl Neurol. 2017 Jul 26;4(9):622-631. doi: 10.1002/acn3.439. eCollection 2017 Sep.

7.

Compositional mapping of the mature anterior cruciate ligament-to-bone insertion.

Qu D, Subramony SD, Boskey AL, Pleshko N, Doty SB, Lu HH.

J Orthop Res. 2017 Nov;35(11):2513-2523. doi: 10.1002/jor.23539. Epub 2017 Mar 2.

PMID:
28176356
8.

Degenerative Ataxias: challenges in clinical research.

Subramony SH.

Ann Clin Transl Neurol. 2016 Nov 17;4(1):53-60. doi: 10.1002/acn3.374. eCollection 2017 Jan. Review.

9.

The Initial Symptom and Motor Progression in Spinocerebellar Ataxias.

Luo L, Wang J, Lo RY, Figueroa KP, Pulst SM, Kuo PH, 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, Kuo SH.

Cerebellum. 2017 Jun;16(3):615-622. doi: 10.1007/s12311-016-0836-3.

PMID:
27848087
10.

Progression of Friedreich ataxia: quantitative characterization over 5 years.

Patel M, Isaacs CJ, Seyer L, Brigatti K, Gelbard S, Strawser C, Foerster D, Shinnick J, Schadt K, Yiu EM, Delatycki MB, Perlman S, Wilmot GR, Zesiewicz T, Mathews K, Gomez CM, Yoon G, Subramony SH, Brocht A, Farmer J, Lynch DR.

Ann Clin Transl Neurol. 2016 Jul 25;3(9):684-94. doi: 10.1002/acn3.332. eCollection 2016 Sep.

11.

SPG7 and Impaired Emotional Communication.

Zhang L, McFarland KN, Subramony SH, Heilman KM, Ashizawa T.

Cerebellum. 2017 Apr;16(2):595-598. doi: 10.1007/s12311-016-0818-5. Erratum in: Cerebellum. 2017 Nov 27;:.

PMID:
27557734
12.

Sensory and motor cortex function contributes to symptom severity in spinocerebellar ataxia type 6.

Kang N, Christou EA, Burciu RG, Chung JW, DeSimone JC, Ofori E, Ashizawa T, Subramony SH, Vaillancourt DE.

Brain Struct Funct. 2017 Mar;222(2):1039-1052. doi: 10.1007/s00429-016-1263-4. Epub 2016 Jun 28.

PMID:
27352359
13.

Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.

Shinnick JE, Schadt K, Strawser C, Wilcox N, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Yiu EM, Delatycki MB, Brocht AF, Farmer JM, Lynch DR.

J Child Neurol. 2016 Aug;31(9):1161-5. doi: 10.1177/0883073816643408. Epub 2016 Apr 12.

PMID:
27071470
14.

Repetitive finger movement performance differs among Parkinson's disease, Progressive Supranuclear Palsy, and spinocerebellar ataxia.

Stegemöller EL, Uzochukwu J, Tillman MD, McFarland NR, Subramony SH, Okun MS, Hass CJ.

J Clin Mov Disord. 2015 Feb 16;2:6. doi: 10.1186/s40734-014-0015-y. eCollection 2015.

15.

Depression 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.

Parkinsonism Relat Disord. 2016 Jan;22:87-92. doi: 10.1016/j.parkreldis.2015.11.021. Epub 2015 Nov 22.

16.

Vision related quality of life in spinocerebellar ataxia.

Kedar S, Ghate D, Murray EL, Corbett JJ, Subramony SH.

J Neurol Sci. 2015 Nov 15;358(1-2):404-8. doi: 10.1016/j.jns.2015.10.013. Epub 2015 Oct 9.

PMID:
26474795
17.

Frataxin levels in peripheral tissue in Friedreich ataxia.

Lazaropoulos M, Dong Y, Clark E, Greeley NR, Seyer LA, Brigatti KW, Christie C, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Brocht AF, Farmer JM, Wilson RB, Deutsch EC, Lynch DR.

Ann Clin Transl Neurol. 2015 Aug;2(8):831-42. doi: 10.1002/acn3.225. Epub 2015 Jul 1.

18.

Force dysmetria in spinocerebellar ataxia 6 correlates with functional capacity.

Casamento-Moran A, Chen YT, Kwon M, Snyder A, Subramony SH, Vaillancourt DE, Christou EA.

Front Hum Neurosci. 2015 Apr 8;9:184. doi: 10.3389/fnhum.2015.00184. eCollection 2015.

19.

Vascular risk factors and clinical progression in spinocerebellar ataxias.

Lo RY, Figueroa KP, Pulst SM, Lin CY, 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, Kuo SH.

Tremor Other Hyperkinet Mov (N Y). 2015 Feb 2;5:287. doi: 10.7916/D89885S0. eCollection 2015.

20.

Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells.

Xia G, Gao Y, Jin S, Subramony SH, Terada N, Ranum LP, Swanson MS, Ashizawa T.

Stem Cells. 2015 Jun;33(6):1829-38. doi: 10.1002/stem.1970.

21.

Coenzyme Q10 and spinocerebellar ataxias.

Lo RY, Figueroa KP, Pulst SM, Lin CY, Perlman S, Wilmot G, Gomez C, Schmahmann J, Paulson H, Shakkottai VG, Ying S, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SH.

Mov Disord. 2015 Feb;30(2):214-20. doi: 10.1002/mds.26088. Epub 2014 Dec 1.

22.

Clinical 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.

J Neuroophthalmol. 2015 Mar;35(1):16-21. doi: 10.1097/WNO.0000000000000167.

23.

Altered activation of the tibialis anterior in individuals with Pompe disease: Implications for motor unit dysfunction.

Corti M, Smith BK, Falk DJ, Lawson LA, Fuller DD, Subramony SH, Byrne BJ, Christou EA.

Muscle Nerve. 2015 Jun;51(6):877-83. doi: 10.1002/mus.24444. Epub 2015 Apr 24.

24.

Deep brain stimulation for tremor associated with underlying ataxia syndromes: a case series and discussion of issues.

Oyama G, Thompson A, Foote KD, Limotai N, Abd-El-Barr M, Maling N, Malaty IA, Rodriguez RL, Subramony SH, Ashizawa T, Okun MS.

Tremor Other Hyperkinet Mov (N Y). 2014 Jul 9;4:228. doi: 10.7916/D8542KQ5. eCollection 2014. Erratum in: Tremor Other Hyperkinet Mov (N Y). 2016;6:418.

25.

Apraxia in anti-glutamic acid decarboxylase-associated stiff person syndrome: link to corticobasal degeneration?

Bowen LN, Subramony SH, Heilman KM.

Ann Neurol. 2015 Jan;77(1):173-6. doi: 10.1002/ana.24245. Epub 2014 Dec 8.

PMID:
25100431
26.

I spy apraxic eyes in spinocerebellar ataxia type 2: a false-negative ataxia panel.

Thompson AJ, Subramony SH, Okun MS.

Mov Disord. 2014 Mar;29(3):426-7. No abstract available.

PMID:
24795923
27.

Combined effects of chemical priming and mechanical stimulation on mesenchymal stem cell differentiation on nanofiber scaffolds.

Subramony SD, Su A, Yeager K, Lu HH.

J Biomech. 2014 Jun 27;47(9):2189-96. doi: 10.1016/j.jbiomech.2013.10.016. Epub 2013 Oct 19.

28.

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.

Zu T, Liu Y, Bañez-Coronel M, Reid T, Pletnikova O, Lewis J, Miller TM, Harms MB, Falchook AE, Subramony SH, Ostrow LW, Rothstein JD, Troncoso JC, Ranum LP.

Proc Natl Acad Sci U S A. 2013 Dec 17;110(51):E4968-77. doi: 10.1073/pnas.1315438110. Epub 2013 Nov 18.

29.

Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.

Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Mazzoni P, Krischer JP, Cuthbertson D, Holbert AR, Ferguson JH, Pulst SM, Subramony SH.

Orphanet J Rare Dis. 2013 Nov 13;8:177. doi: 10.1186/1750-1172-8-177.

30.

Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.

Middlebrooks JC, Nick HS, Subramony SH, Advincula J, Rosales RL, Lee LV, Ashizawa T, Waters MF.

PLoS One. 2013 Oct 7;8(10):e76749. doi: 10.1371/journal.pone.0076749. eCollection 2013.

31.

Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.

Subramony SH, Advincula J, Perlman S, Rosales RL, Lee LV, Ashizawa T, Waters MF.

Cerebellum. 2013 Dec;12(6):932-6. doi: 10.1007/s12311-013-0507-6.

32.

Analysis of the visual system in Friedreich ataxia.

Seyer LA, Galetta K, Wilson J, Sakai R, Perlman S, Mathews K, Wilmot GR, Gomez CM, Ravina B, Zesiewicz T, Bushara KO, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Balcer LJ, Lynch DR.

J Neurol. 2013 Sep;260(9):2362-9. doi: 10.1007/s00415-013-6978-z. Epub 2013 Jun 18.

PMID:
23775342
33.

Long-term safety of dichloroacetate in congenital lactic acidosis.

Abdelmalak M, Lew A, Ramezani R, Shroads AL, Coats BS, Langaee T, Shankar MN, Neiberger RE, Subramony SH, Stacpoole PW.

Mol Genet Metab. 2013 Jun;109(2):139-43. doi: 10.1016/j.ymgme.2013.03.019. Epub 2013 Apr 6.

34.

Generation of neural cells from DM1 induced pluripotent stem cells as cellular model for the study of central nervous system neuropathogenesis.

Xia G, Santostefano KE, Goodwin M, Liu J, Subramony SH, Swanson MS, Terada N, Ashizawa T.

Cell Reprogram. 2013 Apr;15(2):166-77. doi: 10.1089/cell.2012.0086.

35.

Chronic childhood ataxia: the cause depends on how you look.

Subramony SH.

Dev Med Child Neurol. 2013 Apr;55(4):298-9. doi: 10.1111/dmcn.12107. Epub 2013 Feb 7. No abstract available.

36.

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ.

Neurology. 2013 Jan 15;80(3):268-75. doi: 10.1212/WNL.0b013e31827e07be. Epub 2012 Dec 26.

37.

The guidance of stem cell differentiation by substrate alignment and mechanical stimulation.

Subramony SD, Dargis BR, Castillo M, Azeloglu EU, Tracey MS, Su A, Lu HH.

Biomaterials. 2013 Mar;34(8):1942-53. doi: 10.1016/j.biomaterials.2012.11.012. Epub 2012 Dec 13.

38.

Generation of human-induced pluripotent stem cells to model spinocerebellar ataxia type 2 in vitro.

Xia G, Santostefano K, Hamazaki T, Liu J, Subramony SH, Terada N, Ashizawa T.

J Mol Neurosci. 2013 Oct;51(2):237-48. doi: 10.1007/s12031-012-9930-2. Epub 2012 Dec 9.

39.

Affective communication deficits associated with cerebellar degeneration.

Heilman KM, Leon SA, Burtis DB, Ashizawa T, Subramony SH.

Neurocase. 2014;20(1):18-26. doi: 10.1080/13554794.2012.713496. Epub 2012 Sep 28.

PMID:
23020242
40.

Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H).

Waters MF, Subramony SH, Advincula J, Perlman S, Ashizawa T.

Neurology. 2012 Sep 11;79(11):1181-2. doi: 10.1212/WNL.0b013e3182698d5c. Epub 2012 Aug 29. No abstract available.

41.

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW.

Mol Genet Metab. 2012 Jul;106(3):385-94.

42.

Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.

Regner SR, Wilcox NS, Friedman LS, Seyer LA, Schadt KA, Brigatti KW, Perlman S, Delatycki M, Wilmot GR, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Ravina B, Brocht A, Farmer JM, Lynch DR.

J Child Neurol. 2012 Sep;27(9):1152-8. doi: 10.1177/0883073812448462. Epub 2012 Jun 29.

43.

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW.

Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7. Review. Erratum in: Mol Genet Metab. 2012 Jul;106(3):384. Corrected and republished in: Mol Genet Metab. 2012 Jul;106(3):385-94.

44.

Objective home-based gait assessment in spinocerebellar ataxia.

Subramony SH, Kedar S, Murray E, Protas E, Xu H, Ashizawa T, Tan A.

J Neurol Sci. 2012 Feb 15;313(1-2):95-8. doi: 10.1016/j.jns.2011.09.016. Epub 2011 Oct 21.

PMID:
22018764
45.

Overview of autosomal dominant ataxias.

Subramony SH.

Handb Clin Neurol. 2012;103:389-98. doi: 10.1016/B978-0-444-51892-7.00024-3. Review. No abstract available.

PMID:
21827902
46.

Approach to ataxic diseases.

Subramony SH.

Handb Clin Neurol. 2012;103:127-34. doi: 10.1016/B978-0-444-51892-7.00006-1. Review. No abstract available.

PMID:
21827884
47.

Inherited ataxias.

Subramony SH, Dürr A.

Handb Clin Neurol. 2012;103:vii. doi: 10.1016/B978-0-444-51892-7.00051-6. No abstract available.

PMID:
21827878
48.

Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene.

Subramony SH, Ashizawa T, Langford L, McKenna R, Avvaru B, Siddique T, Vedanarayanan V.

Muscle Nerve. 2011 Oct;44(4):499-502. doi: 10.1002/mus.22117. Epub 2011 Jul 13.

PMID:
21755517
49.

Clinical challenges in the ataxias.

Subramony SH.

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2011 Jun;36(6):476-81. doi: 10.3969/j.issn.1672-7347.2011.06.002. Review.

50.

Steady or not following thalamic deep brain stimulation for essential tremor.

Hwynn N, Hass CJ, Zeilman P, Romrell J, Dai Y, Wu SS, Foote KD, Subramony SH, Oyama G, Velez-Lago F, Fernandez HH, Resnick AS, Malaty IA, Okun MS.

J Neurol. 2011 Sep;258(9):1643-8. doi: 10.1007/s00415-011-5986-0. Epub 2011 Mar 27.

PMID:
21442464

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