SankarasubramoneyHSubramonyMD

PubMed

• 1 citations
  Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.
  Marie Morimoto, Eunjin Ryu, Benjamin J Steger, Abhijit Dixit, Yoshihiko Saito
  American Journal of Human Genetics. 2024-09-05
• 1 citations
  SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
  Emilien Petit, Tanja Schmitz-Hübsch, Giulia Coarelli, Heike Jacobi, Anna Heinzmann
  Journal of Neurology. 2024-07-01
• Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure.
  Jamison Seabury, Anika Varma, Jennifer Weinstein, Spencer J Rosero, Charlotte Engebrecht
  Neurology. Clinical Practice. 2024-06-01

Journal Articles

• I spy apraxic eyes in spinocerebellar ataxia type 2: a false-negative ataxia panel  
  Thompson AJ, Subramony SH, Okun MS, Mov Disord, 3/1/2014
• Deep Brain Stimulation for Tremor Associated with Underlying Ataxia Syndromes: A Case Series and Discussion of Issues  
  Tremor and Other Hyperkinetic Movements, 1/1/2014
• 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 USA, 11/18/2013
• 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, Maz..., Orphanet J Rare Dis, 11/1/2013
• 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,..., J Neurol, 6/1/2013
• New NBIA subtype: genetic,clinical, pathologic and radiographic features of MPAN  
  Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel R, Subramony SH et al, Neurology, 1/1/2013
• 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, 1/1/2013
• Chronic childhood ataxia: the cause depends on how you look  
  Subramony SH, Dev Med Chil Neurol, 1/1/2013
• 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, Rav..., J Child Neurol, 1/1/2012
• Approach to ataxic diseases  
  Subramony SH, Handb Clin Neurol, 1/1/2012
• Overview of autosomal dominant ataxias  
  Subramony SH, Handb Clin Neurol, 1/1/2012
• Utility of home based gait monitoring in assessing motor deficits in spinocerebellar ataxia  
  S H Subramony., T.Ashizawa., S.Kedar., L.Murray., A.Tan., E.Protas, J Neurol Sci, 1/1/2012
• The Spectrum of Pyruvate Dehydrogenase Complex Deficiency: Clinical, Biochemical and Genetic Features in 366 Patients  
  Patel, KP Subramony SH, Shuster,J and Stacpoole PW, Mol Genet Metab, 1/1/2012
• Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13R420H  
  Waters MF, Subramony S, Advicnula J, Perlman S, Ashizawa T, Neurology, 1/1/2012
• Clinical Challeneges in the ataxias  
  Subramony SH, Zhong Nan Xue Xue Bao Yi Xue Ban, 1/1/2011
• Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene  
  S.H.Subramony M.D., V. Vedanarayanan, MD, L.Langford, Muscle and Nerve, 1/1/2011
• Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design  
  Friedman LS, Farmer JM, Perlman S, Wilmot G, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Balcer LJ, Wilson RB, Lynch DR, Mov Disord, 3/1/2010
• Elementary, my dear DrAllen The case of barium toxicity and PaPing  
  Bowen L, Subramony SH, Cheng J, Wu SS, Okun MS, Neurology, 1/1/2010
• Bergmann Glial S100B activates myo-inositol monophosphatase 1 and co-localizes to Purkinje cell vacuoles in SCA1 transgenic mice  
  Vig; P J.S.; Qingmei Shao; SH Subramony; Mariper Lopez; Eshan Safaya, Cerebellum, 9/1/2009
• Identification of a new form of autosomal dominant spastic paraplegia  
  Subramony SH, Nguyen TV, Langford L, Lin X, Parent AD...Zhang, Clin Genet, 1/1/2009
• Subcutaneous IGF-1 is not beneficial in 2-year ALS trial  
  Sorenson EJ. Windbank AJ. Mandrekar JN. Bamlet WR. Appel SH. Armon C. Barkhaus PE. Bosch P. Boylan K. David WS. Feldman E. Glass J. Gutmann L. Katz J. King W. Luciano ..., Neurology, 1/1/2008
• Antioxidant use in Friedreich ataxia  
  Myers L. Farmer JM. Wilson RB. Friedman L. Tsou A. Perlman SL. Subramony SH. Gomez CM. Ashizawa T. Wilmot GR. Mathews KD. Balcer LJ. Lynch DR, Journal of the Neurological Sciences, 1/1/2008
• Health related quality of life measures in Friedreich Ataxia  
  Epstein E. Farmer JM. Tsou A. Perlman S. Subramony SH. Gomez CM. Ashizawa T. Wilmot GR. Mathews K. Wilson RB. Balcer LJ. Lynch DR, Journal of the Neurological Sciences, 1/1/2008
• Differential effects of polyglutamine proteins on nuclear organization and artificial reporter splicing  
  Sun J, Xu S, Subramony SH, Hebert MD, J Neurosci Res, 1/1/2007
• Commentary on Scale for assessment and rating of ataxia  
  Subramony SH, Nature Neurology Clinical Practice, 1/1/2007
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Books/Book Chapters

• Neurogenetics: A Guide for Clinicians 
  Chapter: The ataxias. 
  Subramony SHEditors: Prof. Nick Wood.Cambridge University Press2012
• Movement Disorders. 
  Chapter: A young man with psychosis, ataxia and signal changes in the splenium. 
  Subramony SH, Langford L, Voulters LEditors: Stephen Reich.Informa Healthcare2008
• Neurology in Clinical Practice. 
  Chapter: Degenerative Disorders of the Cerebellum. 
  Subramony SHEditors: Bradley, Daroff, Fenichel and Jankovic.Edition 4th,2008
• Neurology in Clinical Practice. 
  Chapter: Ataxic Disorders. 
  Subramony SHEditors: Bradley, Daroff, Fenichel and Jankovic.Edition 4th,2008
• Movement Disorders Neurologic Principles & Practice 
  Chapter: Chapter 43: The molecular genetics of the ataxias. 
  Page 705 - 722Wilmot G, Subramony SHEditors: Ray L. Watts and William C. Koller.McGraw-Hill Companies, Inc.Edition 2nd,2004
• Genetics of Movement Disorders. 
  Chapter: Chapter 5:Spinocerebellar ataxia-3 - Machado-Joseph Disease (SCA-3). 
  Page 57 - 69Paulson H. and Subramony SHEditors: Pulst S-M.Academic Press, San Diego, CA2003
• Neuromuscular Disorders in Clinical Practice. 
  Chapter: Chapter 77: Spinocerebellar ataxias. 
  Page 1289 - 1289Subramony, SHEditors: Katirji B, Kaminski HJ, Preston DC, Ruff RL and Shapiro BE.Butterworth-Heinemann, Boston, MA2002
• The Cerebellum and its Disorders. 
  Chapter: Chapter 28:Spinocerebellar ataxia type 3. 
  Page 428 - 439Subramony SH and Vig PJSEditors: Manto M-U and Pandolfo M.Cambridge University Press, United Kingdom2002
• AAN Continuum 
  Chapter: Inherited Ataxias. 
  Subramony SHEditors: Connally M.2000
• Prognosis of Neurological Disorders. 
  Chapter: Inherited Ataxias. 
  Page 704 - 713Subramony SHEditors: Evans RW, Baskin DS, Yatsu FM.Oxford University Press, New York, NYEdition 2nd,2000
• GENLINE Medical Genetics Knowledge Base 
  Chapter: Spinocerebellar ataxia-3. 
  Subramony, SHEditors: Pagon RA, Bird TA, Dolan CR, Popovich B.University of Washington, Seattle, WA1998
• Neurological Disorders 
  Chapter: Chapter 28: Prognosis of inherited ataxias. 
  Page 147 - 155Subramony SHEditors: Gilchrest J.Butterworth-Heinemann, Boston, MA1998
• Genetic Instabilities and Hereditary Neurological Disorders. 
  Chapter: Clinical aspects of SCA-1. 
  Page 231 - 239Subramony SH and Vig PJSEditors: Wells RD and Warren ST.Academic Press, San Diego, CA1998
• Parkinson’s Disease and Movement Disorders. 
  Chapter: Chapter 40: Inherited ataxias. 
  Page 887 - 907Subramony SHEditors: Jankovic J and Tolosa E.Williams and Wilkins, Baltimore, MD1998
• Kinesis. 
  Chapter: Diagnosis and differential diagnosis of hereditary ataxias. 
  Page 14 - 18Subramony SHEditors: Fayman A.Lippincott-Raven Healthcare, Tokyo, Japan1996
• Neurological Surgery. 
  Chapter: Chapter 10: Electromyography. 
  Page 223 - 246Subramony SH and Carpenter DEEditors: Youmans JR.WB Saunders, Philadelphia, PAEdition 4th,1996
• Conn's Current Therapy. 
  Chapter: Treatment of peripheral neuropathies. 
  Page 879 - 888Subramony SH and Vedanarayanan VEditors: Rakel RE.WB Saunders, Philadelphia, PA1995
• Conn's Current Therapy 
  Chapter: Treatment of Peripheral Neuropathies. 
  Page 924 - 933Subramony SHEditors: Rakel RE.WB Saunders, Philadelphia, PA1994
• Handbook of Cerebellar Diseases 
  Chapter: Presumed Machado-Joseph disease: a study in 4 black kindred from Mississippi. 
  Page 353 - 362Subramony SH, Currier RDEditors: Lechtenberg R.Marcel Dekker, Inc., New York, NY1993
• Handbook of Cerebellar Diseases 
  Chapter: Distinguishing between the adult ataxias. 
  Page 337 - 343Currier RD, Subramony SHEditors: Lechtenberg R.Marcel Dekker, Inc., New York, NY1993
• Advances in Neurology Vol 61 
  Chapter: The Phosphoinositide second messenger system in human OPCA and the mouse model. 
  Page 167 - 173Desaiah D, Subramony SH, Vig PJS, Currier RDEditors: Harding AE and Duefel T.Raven Press, Ltd., New York, NY1993
• Fetal and Neonatal Effects of Maternal Disease 
  Chapter: Neurologic diseases. 
  Page 281 - 301Evans OB, Subramony SH, Hanson RR, Parker CCEditors: Sweet AY and Brown EG.Mosby-Year Book, St. Louis, MO1991
• Handbook of Clinical Neurology 
  Chapter: The classification of familial ataxias. 
  Page 271 - 284Subramony SH and Currier RDEditors: de Jong JMBV.Elsevier Science Publishers B.V.1991
• Neuroepidemiology: a tribute to Bruce Schoenberg. 
  Chapter: Epidemiology of peripheral neuropathies. 
  Page 145 - 166Haerer AF, Subramony SH, Conwill DEEditors: Schoenberg BS, and Anderson DW.CRC Press, Boca Raton1991
• Neurological Surgery 
  Chapter: Electromyography. 
  Page 470 - 499Carpenter DE, Subramony SHEditors: Youmans JR.WB Saunders Co, Philadelphia, PAEdition 3rd,1990
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Abstracts/Posters

• Disorders in Autosomal Dominant Spinocerebellar Ataxias : A Prospective Multicenter NIH Cohort Study.
  M.Moscovich M.D., M.Okun M.D., C.Favilla B.S., K.P.Figueroa M.S., SM Pulst M.D., S.Perlman M.D., G.Wilmot M.D.Ph.D., C.Gomez M.D. Ph.D., J.Schmahmann M.D. S.Ying M.D. ..., American Academy of Neurology, 3/1/2013
• Repetitive finger movement performance differs between Parkinson’s disease and atypical Partkinsonian Syndromes.
  Elizabeth L. Stegemoller, Mark D. Tillman, Nikolaus McFarland, S.H. Subramony, Michael S. Okun, and Chris J. Hass, Soc for Neuroscience, 1/1/2013
• Spinocerebellar ataxia patients exhibit altered activation of the tibialis anterior motor units and impaired ankle force control.
  MH Kwon, YT Chen, A Snyder, AA Alford, DW Solis, SS Geevarughese, DE Vaillancourt ,SH Subramony, EA Christou, Soc for Neuroscience, 1/1/2013
• Force control is impaired in patients with spinocerebellar ataxia during fast ankle goal-directed contractions.
  YT Chen, MH Kwon, Z Zaidi, A Alford, A. Snyder, SW Danielle, SH Subramony, DE Vaillancourt, EA Christou, Soc for Neuroscience, 1/1/2013
• Prior Molecular Diagnostic Accuracy and Age of Disease Onset Variation in the CRC-SCA, a Multicenter Study of Spinocerebellar Ataxias.
  Karla P. Figueroa, Christopher Gomez, Henry Paulson, Susan Perlman, Jeremy Schmahmann, S. Subramony, George Wilmot, Theresa Zesiewicz, Tetsuo Ashizawa, Stefan Pulst, American Academy of Neurology, 4/25/2012
• National Ataxia Registry.
  S. Subramony, B. Beaulieu, P. Deleyrolle, Gainesville, FL, S. Hagen, B. Hartnett, M. Ohman, T. Zhu, Tetsuo Ashizawa, American Academy of Neurology, 4/25/2012
• Subramony Clinical Characteristics of Spinocerebellar Ataxias 1, 2, 3 and 6.
  Tetsuo Ashizawa, Susan Perlman, Christopher Gomez, George Wilmot, Jeremy Schmahmann, Sarah Ying, Theresa Zesiewicz, Henry Paulson, Vikram Shakkottai, Khalaf Bushara, P..., American Academy of Neurology, 4/25/2012
• National Ataxia Registry.
  SH Subramony M.D., Becca Beaulieu MS, Phuong Delyrolle BS, S.Hagen, W.Hartnett, M.Ohmann, T.Zhu, T.Ashizawa M.D., 4th Ataxia Investigator’s Meeting, San Antonio, TX, 3/1/2012
• Generation of disease-specific induced pluripotent stem (IPS) cells as in vitro model of myotonic dystrophy type I.
  Xia G, Hankowski K, Liu J, Subramony SH, Terada N, Ashizawa T, 8th International Myotonic Dystrophy Consortium Meeting, Tampa, FL, 12/1/2011
• The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 366 patients.
  Patel K, Subramony SH, Shuster J Stacpoole PW, United Mitochondrial Disease Foundation Meeting, Chicago, IL, 6/1/2011
• Elementary, my dear Dr.Allen The case of barium toxicity and PaPing.
  Bowen L, Subramony SH, Cheng J, Wu SS, Okun MS, Neurology, 1/1/2010
• Steady or not following thalamic deep brain stimulation for essential tremor.
  Hwynn N, Hass CJ,Zeilman P, Romrell J, Dai Y, Wu SS, Foote K, Subramony SH, Genko O, Valez-Lago F, Fernandez H, Rodriguez R, Malaty I, Okun M, Neurology, 1/1/2010
• Vision-targeted health related quality of life questionnaire in patients with spinocerebellar ataxia (SCA).
  Kedar S., Ghate D., Murray E., Corbett J., Subramony SH, Neurology, 1/1/2009
• Tretament of spinocerebellar ataxia and fragile X-associated tremor ataxia syndrome with Varenicline (Chantix): results of a retrospective blinded video analysis.
  Zesiewicz T., Perlman S., Lynch D., Bushara K., Sullivan K.,Wilmot G., Ashizawa T., Subramony SH., Gomez C, Neurology, 1/1/2009
• Neurodegenerative and Movement Disorders Trinucleotide repeat diseases: Ataxias Early role of tissue transglutaminase in SCA1 pathogenesis.
  D.R. D’Souza; J.Wei, M.E. Lopez; M. Ard; P.J.S Vig, Soc. For Neurosci, Washington, DC, 11/12/2005
• Effects of intranasal administration of IGF-I on SCA1 transgenic mice.
  P. J. Vig; S.H. Subramony; D.R. D’Souza; J. Wei; M.E. Lopez, Soc. For Neurosci, Washington, DC, 11/12/2005
• Fragile X and Company: Finding the right diagnosis.
  Subramony SH, Freidrich,C, Jankowiak J, Neurology, 1/1/2005
• A Retrospective Look at Amyotrophic Lateral Sclerosis in Mississippi.
  Chandler A, Subramony SH, May W, Neurology; Abstracts of the American Academy of Neurology 56th Annual Meeting, San Francisco, CA, 1/1/2004
• Astroglial Neurotrophic Factor S-100 Positive Vacuoles in Purkinje Cells: Earliest Morphological Abnormality in SCA1 Mice.
  Vig, PJS, Wei J, D’Souza D. Subramony SH, Neurology; Abstracts of the American Academy of Neurology 56th Annual Meeting, San Francisco, CA, 1/1/2004
• Inositol 1,4,5,-trisphosphate receptor binding in cerebellum in spinocerebellar ataxia-1 (SCA-1) transgenic mice.
  Vig PJS, Subramony SH, McKinsey DJ, Experimental Biology, San Diego, CA, 4/11/2003
• A novel CACNA1A mutation causing febrile ataxia with interictal ocular motor and posture abnormalities.
  Gomez CM, Schott KS, Raike RS, Christova P, Anderson JH, and Subramony SH, Neurology, 3/1/2003
• A novel frataxin mutation and unusual heterozygote expansion associated with a very late onset of FA.
  McDaniel D, Woodley L, Langford L, Subramony S, Am J Hum Genet, 1/1/2003
• Disrupted nuclear organization and function in Machado-Joseph Disease.
  Lewis KM, Xu H, George EM, Subramony SH, Hebert MD, Ann Neurol, 1/1/2003
• Visual function in Machado-Joseph Disease.
  Subramony SH, Wafapoor H, Santiago ME, Romero MS, McDaniel DO, Langford L, Ann Neurol, 1/1/2003
• Improved pathology in insulin-like growth factor-1 over-expressing SCA-1 transgenic mice is associated with reduction in p53 expression.
  Vig PJS, Subramony SH, Fratkin JD, Qin Z, J Neuropathol Experimental Neurol, 1/1/2003
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Lectures

• Genetic testing in Neurology 
  FL - 1/1/2014
• Video review of ataxias. 
  FL - 1/1/2014
• EMG/Neuromuscular Disease 
  University of Florida College of Medicine - 1/1/2014
• Update on inherited ataxias. 
  12/30/2013
• Oculomotor system in SCA’s. 
  Beijing, China - 10/29/2013
• Inherited ataxias with emphasis on Pediatric Aspects. 
  Montreal Children’s Hospital, Montreal, Canada - 10/3/2013
• Spinocerebellar Ataxias, from bench to bedside and back. 
  New Delhi, India - 2/1/2013
• Movement Disorders in Spinocerebellar Ataxias 
  China - 1/1/2012
• Peroneal Neuropathy 
  Orlando, FL - 1/1/2012
• Workshop on Neuromuscular Junction 
  Orlando, FL - 1/1/2012
• Update on Spinocerebellar Ataxias. 
  1/1/2012
• Clinical and video review of ataxias. 
  Honolulu, HI - 4/1/2011
• Clinical review of ataxias. 
  University of Louisville, KY - 1/1/2011
• Clinical challenges in Ataxias 
  1/1/2011
• Clinical Advances in Ataxias. Invited Lecture 
  9/1/2010
• Muscle Channelopathies. Invited Lecture 
  9/1/2010
• Update on SCA registry. 
  Seattle, WA - 3/1/2009
• Sporadic Ataxia. Invited Lecture 
  Las Vegas, NV - 3/29/2008
• Ataxias, Case Based Approach 
  Case Western Reserve University, Cleveland, OH - 1/1/2008
• An Update on the Neuromuscular Junction 
  Case Western Reserve University, Cleveland, OH - 1/1/2008
• Stingers and Burners 
  University of Texas Medical Branch - 7/1/2007
• Advances in Degenerative Ataxias 
  University of South Florida, Tampa, FL - 4/1/2007
• Approach to degenerative ataxias. 
  New Brunswick, NJ - 3/1/2007
• Ataxias, Case Based Approach. 
  Cooper Hospital, Camden, NJ - 1/1/2007
• “Overview of Degenerative ataxias. 
  Robert Wood Johnson School of Medicine, New Brunswick, NJ - 1/1/2007
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Other

• GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. 
  Subramony SH, Ashizawa T, Copyright, University of Washington, Seattle, 1997-2010
  10/1/2011