Sub Subramony

Sub Subramony, M.D.

Professor

Department: MD-NEUROMUSCULAR NEUROLOGY
Business Phone: (352) 273-5000

About Sub Subramony

Dr. S. H. Subramony was trained in Neurology and Electromyography/ Neuromuscular diseases at the Cleveland Clinic, Cleveland, OH. Subsequent to that, he was on the faculty at the University of Mississippi Medical Center from (from 1980 to 2007), where he was named the Billy Guyton Distinguished Professor of Neurology. Later, at University of Texas Medical Branch in Galveston where he was appointed the Charlotte Warmoth Professor of Neurology (2007 to 2009 ), before coming to University of Florida in 2009. He has directed the adult Muscular Dystrophy clinics and the Ataxia Clinic at UF since then.

Over the last 25 years, he has had an investigative interest in genetically determined neuromuscular disorders and hereditary ataxias. He was an active participant in many gene identification studies in these disorders and more recently has been focused on translational research to bring innovative therapies to these disorders. He has active collaborations with the Powell Gene Therapy center and the Center for Neurogenetics at UF allowing for bench to bedside translation. He is an active member of national study groups in Friedreich Ataxia, myotonic muscular dystrophy and spinocerebellar ataxias and site investigator for federally funded clinical research studies in all these disorders. In addition, he is the site investigator for many industry funded clinical trials in these diseases. Dr. Subramony is considered one of the world leading experts in these fields.

His clinical experience includes the management of patients with all types of neuromuscular diseases including ALS, myasthenia gravis, polymyositis, neuropathies and muscular dystrophies. Currently he focuses on genetic neuromuscular diseases and ataxias and offers treatment that includes electromyography, muscle biopsy when appropriate, appropriate genetic testing and referral to ancillary services such as physical, occupational and speech therapy and evaluation for mobility aids.

Accomplishments

Ron Bartek award for promoting research in Friedirech Ataxia
2018 · Friedreich Ataxia Research Alliance
Billy Guyton Distinguished Professor
2004-2009 · University of Mississippi
Neuroscience Alumnus of the year
1992 · The Cleveland Clinic Foundation

Teaching Profile

Courses Taught
2020-2021
GMS5905 Special Topics in Biomedical Sciences
2021
MDC7800 Neurology Clerkship
2022
PAS5020 Intro to Medicine 2

Board Certifications

  • American Board of Neurology, special certificate in Neuromuscular Medicine
    American Baord of Psychiatry and Neurology
  • Neurology
    American Board of Psychiatry and Neurology

Clinical Profile

Specialties
  • Neurology
Subspecialties
  • Neuromuscular Medicine
Areas of Interest
  • Becker muscular dystrophy
  • Facioscapulohumeral muscular dystrophy
  • Friedreich ataxia
  • Hyperkalemic periodic paralysis
  • Hypokalemic periodic paralysis
  • Movement – uncoordinated
  • Muscular dystrophy
  • Myotonia congenita
  • Neuromuscular disorders
  • Pompe Disease

Research Profile

My key research interests include phenotypic characterization, phenotype-genotype correlations and pathogenic mechansims in genetically induced cerebellar ataxias and muscular dystrophies. In addition, I also am interested in developing assessment methods, biomarker discovery and therapeutic modalities for such diseases.

Areas of Interest
  • Facioscapulohumeral dystrophy
  • Friedreich’s ataxia
  • Mitochondrial myopathy
  • Myotonic Dystrophy
  • Spinocerebellar Ataxia

Publications

2022
Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation.
Muscle & nerve. 65(5):560-567 [DOI] 10.1002/mus.27520. [PMID] 35179228.
2022
Inherited Ataxias in Children.
Pediatric neurology. 131:54-62 [DOI] 10.1016/j.pediatrneurol.2022.04.004. [PMID] 35490578.
2021
Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study.
Neurology. Genetics. 7(6) [DOI] 10.1212/NXG.0000000000000638. [PMID] 34786480.
2021
CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.
EMBO molecular medicine. 13(11) [DOI] 10.15252/emmm.202114095. [PMID] 34632710.
2021
Gauging Gait Disorders with a Method Inspired by Motor Control Theories: A Pilot Study in Friedreich’s Ataxia.
Sensors (Basel, Switzerland). 21(4) [DOI] 10.3390/s21041144. [PMID] 33562027.
2021
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Journal of neurology, neurosurgery, and psychiatry. 92(11):1186-1196 [DOI] 10.1136/jnnp-2020-325437. [PMID] 34103343.
2021
Pain as a significant symptom in patients with periodic paralysis-A cross-sectional survey.
Muscle & nerve. 63(6):897-901 [DOI] 10.1002/mus.27241. [PMID] 33759219.
2021
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
Annals of neurology. 89(2):212-225 [DOI] 10.1002/ana.25934. [PMID] 33068037.
2021
Scoliosis in Friedreich’s ataxia: longitudinal characterization in a large heterogeneous cohort.
Annals of clinical and translational neurology. 8(6):1239-1250 [DOI] 10.1002/acn3.51352. [PMID] 33949801.
2020
“Status myotonicus” in Nav1.4-M1592V channelopathy.
Neuromuscular disorders : NMD. 30(5):424-426 [DOI] 10.1016/j.nmd.2020.03.002. [PMID] 32327288.
2020
Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6.
Journal of the neurological sciences. 415 [DOI] 10.1016/j.jns.2020.116878. [PMID] 32454319.
2020
Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort.
Journal of the neurological sciences. 410 [DOI] 10.1016/j.jns.2019.116642. [PMID] 31901720.
2020
Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood.
Nature communications. 11(1) [DOI] 10.1038/s41467-020-15962-x. [PMID] 32332745.
2020
Sleep disorders in myotonic dystrophies.
Muscle & nerve. 62(3):309-320 [DOI] 10.1002/mus.26866. [PMID] 32212331.
2020
Temporal but not spatial dysmetria relates to disease severity in FA.
Journal of neurophysiology. 123(2):718-725 [DOI] 10.1152/jn.00165.2019. [PMID] 31693434.
2020
Temporal invariance in SCA6 is related to smaller cerebellar lobule VI and greater disease severity
The Journal of Neuroscience. 40(8):1722-1731 [DOI] 10.1523/JNEUROSCI.1532-19.2019. [PMID] 31941666.
2020
The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3.
Parkinsonism & related disorders. 72:37-43 [DOI] 10.1016/j.parkreldis.2020.02.004. [PMID] 32105964.
2019
Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology.
Acta neuropathologica communications. 7(1) [DOI] 10.1186/s40478-019-0818-z. [PMID] 31665069.
2019
Psychometric properties of the Friedreich Ataxia Rating Scale.
Neurology. Genetics. 5(6) [DOI] 10.1212/NXG.0000000000000371. [PMID] 32042904.
2019
Randomized, double-blind, placebo-controlled study of interferon-γ 1b in Friedreich Ataxia.
Annals of clinical and translational neurology. 6(3):546-553 [DOI] 10.1002/acn3.731. [PMID] 30911578.
2019
Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.
Annals of clinical and translational neurology. 6(1):15-26 [DOI] 10.1002/acn3.660. [PMID] 30656180.
2019
The current state of biomarker research for Friedreich’s ataxia: a report from the 2018 FARA biomarker meeting.
Future science OA. 5(6) [DOI] 10.2144/fsoa-2019-0026. [PMID] 31285843.
2019
Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor.
Cerebellum (London, England). 18(3):519-526 [DOI] 10.1007/s12311-019-01016-6. [PMID] 30830673.
2018
C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity.
Cerebellum (London, England). 17(5):692-697 [DOI] 10.1007/s12311-018-0950-5. [PMID] 29949095.
2018
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.
Neurology. 90(10):464-471 [DOI] 10.1212/WNL.0000000000005055. [PMID] 29440566.
2018
Consensus-based care recommendations for adults with myotonic dystrophy type 1.
Neurology. Clinical practice. 8(6):507-520 [DOI] 10.1212/CPJ.0000000000000531. [PMID] 30588381.
2018
Delayed diagnosis of DOK7 congenital myasthenic syndrome: Case report and literature review.
Neurology. Clinical practice. 8(6):e40-e42 [DOI] 10.1212/CPJ.0000000000000530. [PMID] 30588388.
2018
Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.
Journal of child neurology. 33(6):397-404 [DOI] 10.1177/0883073818764941. [PMID] 29607705.
2018
Longitudinal analysis of contrast acuity in Friedreich ataxia.
Neurology. Genetics. 4(4) [DOI] 10.1212/NXG.0000000000000250. [PMID] 30065952.
2018
SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.
The EMBO journal. 37(19) [DOI] 10.15252/embj.201899023. [PMID] 30206144.
2017
Correction to: SPG7 and Impaired Emotional Communication.
Cerebellum (London, England). 16(5-6) [DOI] 10.1007/s12311-017-0901-6. [PMID] 29181771.
2017
Degenerative Ataxias: challenges in clinical research.
Annals of clinical and translational neurology. 4(1):53-60 [DOI] 10.1002/acn3.374. [PMID] 28078315.
2017
Dystonia and ataxia progression in spinocerebellar ataxias.
Parkinsonism & related disorders. 45:75-80 [DOI] 10.1016/j.parkreldis.2017.10.007. [PMID] 29089256.
2017
Impact of diabetes in the Friedreich ataxia clinical outcome measures study.
Annals of clinical and translational neurology. 4(9):622-631 [DOI] 10.1002/acn3.439. [PMID] 28904984.
2017
Sensory and motor cortex function contributes to symptom severity in spinocerebellar ataxia type 6.
Brain structure & function. 222(2):1039-1052 [DOI] 10.1007/s00429-016-1263-4. [PMID] 27352359.
2017
SPG7 and Impaired Emotional Communication.
Cerebellum (London, England). 16(2):595-598 [DOI] 10.1007/s12311-016-0818-5. [PMID] 27557734.
2017
The Initial Symptom and Motor Progression in Spinocerebellar Ataxias.
Cerebellum (London, England). 16(3):615-622 [DOI] 10.1007/s12311-016-0836-3. [PMID] 27848087.
2016
Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.
Journal of child neurology. 31(9):1161-5 [DOI] 10.1177/0883073816643408. [PMID] 27071470.
2016
Depression and clinical progression in spinocerebellar ataxias.
Parkinsonism & related disorders. 22:87-92 [DOI] 10.1016/j.parkreldis.2015.11.021. [PMID] 26644294.
2016
Progression of Friedreich ataxia: quantitative characterization over 5 years.
Annals of clinical and translational neurology. 3(9):684-94 [DOI] 10.1002/acn3.332. [PMID] 27648458.
2015
Altered activation of the tibialis anterior in individuals with Pompe disease: Implications for motor unit dysfunction.
Muscle & nerve. 51(6):877-83 [DOI] 10.1002/mus.24444. [PMID] 25186912.
2015
Apraxia in anti-glutamic acid decarboxylase-associated stiff person syndrome: link to corticobasal degeneration?
Annals of neurology. 77(1):173-6 [DOI] 10.1002/ana.24245. [PMID] 25100431.
2015
Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter study.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 35(1):16-21 [DOI] 10.1097/WNO.0000000000000167. [PMID] 25259863.
2015
Coenzyme Q10 and spinocerebellar ataxias.
Movement disorders : official journal of the Movement Disorder Society. 30(2):214-20 [DOI] 10.1002/mds.26088. [PMID] 25449974.
2015
Force dysmetria in spinocerebellar ataxia 6 correlates with functional capacity.
Frontiers in human neuroscience. 9 [DOI] 10.3389/fnhum.2015.00184. [PMID] 25904859.
2015
Frataxin levels in peripheral tissue in Friedreich ataxia.
Annals of clinical and translational neurology. 2(8):831-42 [DOI] 10.1002/acn3.225. [PMID] 26339677.
2015
Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells.
Stem cells (Dayton, Ohio). 33(6):1829-38 [DOI] 10.1002/stem.1970. [PMID] 25702800.
2015
Repetitive finger movement performance differs among Parkinson’s disease, Progressive Supranuclear Palsy, and spinocerebellar ataxia.
Journal of clinical movement disorders. 2 [DOI] 10.1186/s40734-014-0015-y. [PMID] 26788342.
2015
Vascular risk factors and clinical progression in spinocerebellar ataxias.
Tremor and other hyperkinetic movements (New York, N.Y.). 5 [DOI] 10.7916/D89885S0. [PMID] 25713748.
2015
Vision related quality of life in spinocerebellar ataxia.
Journal of the neurological sciences. 358(1-2):404-8 [DOI] 10.1016/j.jns.2015.10.013. [PMID] 26474795.
2014
Affective communication deficits associated with cerebellar degeneration.
Neurocase. 20(1):18-26 [DOI] 10.1080/13554794.2012.713496. [PMID] 23020242.
2013
Analysis of the visual system in Friedreich ataxia.
Journal of neurology. 260(9):2362-9 [DOI] 10.1007/s00415-013-6978-z. [PMID] 23775342.
2013
Chronic childhood ataxia: the cause depends on how you look.
Developmental medicine and child neurology. 55(4):298-9 [DOI] 10.1111/dmcn.12107. [PMID] 23398297.
2013
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
Orphanet journal of rare diseases. 8 [DOI] 10.1186/1750-1172-8-177. [PMID] 24225362.
2013
Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.
Cerebellum (London, England). 12(6):932-6 [DOI] 10.1007/s12311-013-0507-6. [PMID] 23912307.
2013
Generation of human-induced pluripotent stem cells to model spinocerebellar ataxia type 2 in vitro.
Journal of molecular neuroscience : MN. 51(2):237-48 [DOI] 10.1007/s12031-012-9930-2. [PMID] 23224816.
2013
Generation of neural cells from DM1 induced pluripotent stem cells as cellular model for the study of central nervous system neuropathogenesis.
Cellular reprogramming. 15(2):166-77 [DOI] 10.1089/cell.2012.0086. [PMID] 23550732.
2013
Long-term safety of dichloroacetate in congenital lactic acidosis.
Molecular genetics and metabolism. 109(2):139-43 [DOI] 10.1016/j.ymgme.2013.03.019. [PMID] 23611579.
2013
Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.
PloS one. 8(10) [DOI] 10.1371/journal.pone.0076749. [PMID] 24116147.
2013
New Nbia Subtype Genetic, Clinical, Pathologic, and Radiographic Features of Mpan
. 80:268-275
2013
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Neurology. 80(3):268-75 [DOI] 10.1212/WNL.0b013e31827e07be. [PMID] 23269600.
2013
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.
Proceedings of the National Academy of Sciences of the United States of America. 110(51):E4968-77 [DOI] 10.1073/pnas.1315438110. [PMID] 24248382.
2012
Approach to ataxic diseases.
Handbook of clinical neurology. 103:127-34 [DOI] 10.1016/B978-0-444-51892-7.00006-1. [PMID] 21827884.
2012
Clinical Characteristics of Spinocerebellar Ataxias 1, 2, 3 and 6
. 78
2012
Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.
Journal of child neurology. 27(9):1152-8 [DOI] 10.1177/0883073812448462. [PMID] 22752494.
2012
Inherited ataxias.
Handbook of clinical neurology. 103 [DOI] 10.1016/B978-0-444-51892-7.00051-6. [PMID] 21827878.
2012
Objective home-based gait assessment in spinocerebellar ataxia.
Journal of the neurological sciences. 313(1-2):95-8 [DOI] 10.1016/j.jns.2011.09.016. [PMID] 22018764.
2012
Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H).
Neurology. 79(11):1181-2 [DOI] 10.1212/WNL.0b013e3182698d5c. [PMID] 22933745.
2012
Overview of autosomal dominant ataxias.
Handbook of clinical neurology. 103:389-98 [DOI] 10.1016/B978-0-444-51892-7.00024-3. [PMID] 21827902.
2012
Prior Molecular Diagnostic Accuracy and Age of Disease Onset Variation in the Crc-Sca, a Multicenter Study of Spinocerebellar Ataxias
. 78
2012
The National Ataxia Registry
. 78
2012
The Spectrum of Pyruvate Dehydrogenase Complex Deficiency: Clinical, Biochemical and Genetic Features in 371 Patients
Molecular Genetics and Metabolism. 105(1):34-43 [DOI] 10.1016/j.ymgme.2011.09.032. [PMID] 22079328.
2012
The Spectrum of Pyruvate Dehydrogenase Complex Deficiency: Clinical, Biochemical and Genetic Features in 371 Patients (Vol 105, Pg 34, 2012)
Molecular Genetics and Metabolism. 106(3):384-394 [DOI] 10.1016/j.ymgme.2012.03.016.
2011
Clinical challenges in the ataxias.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences. 36(6):476-81 [DOI] 10.3969/j.issn.1672-7347.2011.06.002. [PMID] 21743137.
2011
Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene.
Muscle & nerve. 44(4):499-502 [DOI] 10.1002/mus.22117. [PMID] 21755517.
2011
Steady or not following thalamic deep brain stimulation for essential tremor.
Journal of neurology. 258(9):1643-8 [DOI] 10.1007/s00415-011-5986-0. [PMID] 21442464.
2010
Elementary, my dear Dr. Allen: the case of barium toxicity and Pa Ping.
Neurology. 74(19):1546-9 [DOI] 10.1212/WNL.0b013e3181e222ee. [PMID] 20458073.
2010
Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design.
Movement disorders : official journal of the Movement Disorder Society. 25(4):426-32 [DOI] 10.1002/mds.22912. [PMID] 20063431.
2009
Bergmann glial S100B activates myo-inositol monophosphatase 1 and Co-localizes to purkinje cell vacuoles in SCA1 transgenic mice.
Cerebellum (London, England). 8(3):231-44 [DOI] 10.1007/s12311-009-0125-5. [PMID] 19593677.
2009
Identification of a new form of autosomal dominant spastic paraplegia.
Clinical genetics. 76(1):113-6 [DOI] 10.1111/j.1399-0004.2008.01122.x. [PMID] 19519683.
2008
Antioxidant use in Friedreich ataxia.
Journal of the neurological sciences. 267(1-2):174-6 [PMID] 17988688.
2008
Health related quality of life measures in Friedreich Ataxia.
Journal of the neurological sciences. 272(1-2):123-8 [DOI] 10.1016/j.jns.2008.05.009. [PMID] 18571673.
2008
Subcutaneous IGF-1 is not beneficial in 2-year ALS trial.
Neurology. 71(22):1770-5 [DOI] 10.1212/01.wnl.0000335970.78664.36. [PMID] 19029516.
2007
Differential effects of polyglutamine proteins on nuclear organization and artificial reporter splicing.
Journal of neuroscience research. 85(11):2306-17 [PMID] 17526020.
2007
Role of tissue transglutaminase type 2 in calbindin-D28k interaction with ataxin-1.
Neuroscience letters. 420(1):53-7 [PMID] 17442486.
2007
SARA–a new clinical scale for the assessment and rating of ataxia.
Nature clinical practice. Neurology. 3(3):136-7 [PMID] 17290240.
2006
Intranasal administration of IGF-I improves behavior and Purkinje cell pathology in SCA1 mice.
Brain research bulletin. 69(5):573-9 [PMID] 16647585.
2006
Measuring Friedreich ataxia: complementary features of examination and performance measures.
Neurology. 66(11):1711-6 [PMID] 16769945.
2006
Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich’s ataxia.
FEBS letters. 580(22):5399-405 [PMID] 16989817.
2006
Tissue transglutaminase crosslinks ataxin-1: possible role in SCA1 pathogenesis.
Neuroscience letters. 409(1):5-9 [PMID] 17045396.
2005
CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy.
Annals of neurology. 58(1):151-5 [PMID] 15984021.
2005
Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes.
Movement disorders : official journal of the Movement Disorder Society. 20(11):1405-12 [PMID] 16037936.
2005
Fragile X and company: finding the right diagnosis.
Neurology. 65(2):E3-4 [PMID] 16043779.
2005
Interactions between coilin and PIASy partially link Cajal bodies to PML bodies.
Journal of cell science. 118(Pt 21):4995-5003 [PMID] 16219678.
2005
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale.
Neurology. 64(7):1261-2 [PMID] 15824358.
2004
Tick paralysis.
Seminars in neurology. 24(2):181-4 [PMID] 15257515.
2003
Dominantly inherited ataxias.
Seminars in pediatric neurology. 10(3):210-22 [PMID] 14653409.
2003
Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.
Annals of neurology. 54(6):725-31 [PMID] 14681882.
2002
Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.
Movement disorders : official journal of the Movement Disorder Society. 17(5):1068-71 [PMID] 12360561.
2002
Missed diagnosis of lambert-eaton syndrome.
Journal of clinical neuromuscular disease. 3(3):135-6 [PMID] 19078668.
2002
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
Neurology. 58(4):593-602 [PMID] 11865138.
2002
Tick paralysis in children: electrophysiology and possibility of misdiagnosis.
Neurology. 59(7):1088-90 [PMID] 12370471.
2001
Autosomal dominant spinocerebellar ataxias ad infinitum?
Neurology. 56(3):287-9 [PMID] 11171890.
2001
Calcium homeostasis and spinocerebellar ataxia-1 (SCA-1).
Brain research bulletin. 56(3-4):221-5 [PMID] 11719254.
2001
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen’s syndrome.
Cell. 105(4):511-9 [PMID] 11371347.
2001
Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich’s ataxia.
Movement disorders : official journal of the Movement Disorder Society. 16(6):1153-8 [PMID] 11748752.
2001
What is Kearns-Sayre syndrome after all?
Archives of neurology. 58(7):1053-4 [PMID] 11448292.
2000
‘Giant’ a-waves in guillain-barré syndrome.
Journal of clinical neuromuscular disease. 2(2):113-5 [PMID] 19078614.
2000
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.
Neurology. 55(11):1689-96 [PMID] 11113224.
2000
Relationship between ataxin-1 nuclear inclusions and Purkinje cell specific proteins in SCA-1 transgenic mice.
Journal of the neurological sciences. 174(2):100-10 [PMID] 10727695.
1999
Dominantly inherited ataxias.
Seminars in neurology. 19(4):419-25 [PMID] 10716664.
1999
The effects of calbindin D-28K and parvalbumin antisense oligonucleotides on the survival of cultured Purkinje cells.
Research communications in molecular pathology and pharmacology. 103(3):249-59 [PMID] 10509736.
1998
Lethal neonatal autosomal recessive axonal sensorimotor polyneuropathy.
Muscle & nerve. 21(11):1473-7 [PMID] 9771672.
1998
Reduced immunoreactivity to calcium-binding proteins in Purkinje cells precedes onset of ataxia in spinocerebellar ataxia-1 transgenic mice.
Neurology. 50(1):106-13 [PMID] 9443466.
1997
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Nature genetics. 15(1):62-9 [PMID] 8988170.
1997
International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology.
Journal of the neurological sciences. 145(2):205-11 [PMID] 9094050.
1997
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.
Neuron. 19(2):333-44 [PMID] 9292723.
1996
Decreased parvalbumin immunoreactivity in surviving Purkinje cells of patients with spinocerebellar ataxia-1.
Neurology. 47(1):249-53 [PMID] 8710087.
1996
Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus.
Movement disorders : official journal of the Movement Disorder Society. 11(2):174-80 [PMID] 8684388.
1996
Genotypes and phenotypes.
Neurology. 47(2):613-4 [PMID] 8757064.
1996
Intrafamilial variability in Machado-Joseph disease.
Movement disorders : official journal of the Movement Disorder Society. 11(6):741-3 [PMID] 8914106.
1995
Clinical aspects of hereditary ataxias.
Journal of child neurology. 10(5):353-62 [PMID] 7499754.
1995
Daunomycin inhibits insulin-like growth factor I-dependent protein tyrosine phosphorylation.
Research communications in molecular pathology and pharmacology. 89(1):3-15 [PMID] 7582860.
1995
Developmental changes in cerebellar endothelin-1 receptors in the neurologic mouse lurcher mutant.
Research communications in molecular pathology and pharmacology. 89(3):307-16 [PMID] 8680799.
1995
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.
Nature genetics. 10(3):344-50 [PMID] 7670474.
1995
Lupus transverse myelopathy: better outcome with early recognition and aggressive high-dose intravenous corticosteroid pulse treatment.
Journal of neurology. 242(5):326-31 [PMID] 7643142.
1995
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.
Annals of neurology. 38(1):68-72 [PMID] 7611728.
1995
Treatment of childhood dermatomyositis with high dose intravenous immunoglobulin.
Pediatric neurology. 13(4):336-9 [PMID] 8771171.
1995
Treatment of hereditary ataxia with the levorotatory form of hydroxytryptophan.
Archives of neurology. 52(5):440-1 [PMID] 7733833.
1994
Decreased insulin-like growth factor I-mediated protein tyrosine phosphorylation in human olivopontocerebellar atrophy and lurcher mutant mouse.
Journal of the neurological sciences. 124(1):38-44 [PMID] 7931420.
1994
Degenerative ataxias.
Current opinion in neurology. 7(4):316-22 [PMID] 7952239.
1994
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.
American journal of human genetics. 55(2):244-52 [PMID] 8037204.
1993
The phosphoinositide second messenger system in human OPCA and the mouse model.
Advances in neurology. 61:167-73 [PMID] 8380676.
1992
Case report: autonomic postganglionic denervation–sural nerve and saphenous vein biopsy.
The American journal of the medical sciences. 303(5):324-8 [PMID] 1580323.
1992
Inositol 1,4,5-trisphosphate metabolism in the cerebella of Lurcher mutant mice and patients with olivopontocerebellar atrophy.
Journal of the neurological sciences. 110(1-2):139-43 [PMID] 1506853.
1992
Stiff-man syndrome.
Southern medical journal. 85(7):711-3 [PMID] 1631684.
1991
Inositol 1,4,5-trisphosphate receptors and protein kinase C in olivopontocerebellar atrophy.
Brain research. 552(1):36-40 [PMID] 1655168.
1991
Myopathy and prolonged neuromuscular blockade after lung transplant.
Critical care medicine. 19(12):1580-2 [PMID] 1683618.
1990
Mistaken diagnoses in continuous muscle fiber activity of peripheral nerve origin.
Pediatric neurology. 6(4):257-9 [PMID] 2169751.
1988
AAEE case report #14: neuralgic amyotrophy (acute brachial neuropathy).
Muscle & nerve. 11(1):39-44 [PMID] 2448616.
1986
“Orthostatic tremor’ in familial-essential tremor.
Neurology. 36(9):1241-5 [PMID] 3748391.
1986
Exercise and rest in hyperkalemic periodic paralysis.
Neurology. 36(2):173-7 [PMID] 3945387.
1986
Lack of cold sensitivity in hyperkalemic periodic paralysis.
Muscle & nerve. 9(8):700-3 [PMID] 3785280.
1986
Motor neuropathy associated with a facilitating myasthenic syndrome.
Muscle & nerve. 9(1):64-8 [PMID] 3005856.
1983
Distinguishing paramyotonia congenita and myotonia congenita by electromyography.
Muscle & nerve. 6(5):374-9 [PMID] 6888415.
1982
Diabetic proximal neuropathy. Clinical and electromyographic studies.
Journal of the neurological sciences. 53(2):293-304 [PMID] 7057213.

Grants

Mar 2022 ACTIVE
Assessment of diffusion imaging metrics in cerebellar tracts as a quantitative marker of disease progression in SCA
Role: Co-Project Director/Principal Investigator
Funding: NATL ATAXIA FOUNDATION
Jan 2022 ACTIVE
AN EXPLORATORY STUDY TO ASSESS CHANGE IN BONE MINERAL DENSITY (BMD) AFTER 24 WEEKS TREATMENT OF REN001 IN SUBJECTS TAKING PART IN THE STRIDE STUDY, USING DUAL-ENERGY X-RAY ABSORPTIOMETRY (DXA)
Role: Principal Investigator
Funding: ORPHAN REACH via RENEO PHARMA
Jan 2022 ACTIVE
Motor Outcomes to Validate Evaluations in FSHD Plus MRI and Biomarker Discovery/Validation (MOVE+)
Role: Principal Investigator
Funding: UNIV OF KANSAS MEDICAL CTR via AVIDITY BIOSCIENCES
Jan 2022 ACTIVE
Clinical Trial Readiness for SCA1 and SCA3 – Year 5
Role: Principal Investigator
Funding: HOUSTON METHODIST ACADEMIC INSTITUTE via NATL INST OF HLTH NINDS
Sep 2021 ACTIVE
Randomized, Double-Blind, Placebo-Controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single and Multiple-Doses of AOC 1001 Administered Intravenously to Adult Myotonic Dystrophy Type 1 (DM1) Patients
Role: Principal Investigator
Funding: AVIDITY BIOSCIENCES
Aug 2021 ACTIVE
Understanding and Improving Therapies for the Muscular Dystrophies
Role: Project Manager
Funding: NATL INST OF HLTH NIAMS
Jul 2021 ACTIVE
A RANDOMIZED, PARALLEL-ARM, DOUBLE-BLIND, PLACEBO-CONTROLLED STUDY WITH OPEN-LABEL EXTENSION TO ASSESS THE EFFICACY AND SAFETY OF VATIQUINONE FOR THE TREATMENT OF FRIEDREICH ATAXIA (MOVE-FA)
Role: Principal Investigator
Funding: CTI CLINICAL TRIAL SERVICES via PTC THERAPEUTICS
Jul 2021 ACTIVE
A DOUBLE-BLIND, PLACEBO-CONTROLLED, STUDY TO EVALUATE THE EFFICACY AND SAFETY OF 24 WEEKS TREATMENT WITH REN001 IN PATIENTS WITH PRIMARY MITOCHONDRIAL MYOPATHY (PMM)
Role: Principal Investigator
Funding: ORPHAN REACH via RENEO PHARMA
Jul 2021 ACTIVE
Muscular Dystrophy Association Clinic Grants
Role: Principal Investigator
Funding: MUSCULAR DYSTROPHY ASSO
May 2021 – Jun 2021
CMS, COHBI – Powell Research for Rare Disease
Role: Principal Investigator
Funding: FL DEPT OF HLTH
Jan 2021 ACTIVE
Task Order #8: Documentation and Development in support of Clinical Programs in Friedreichs Ataxia
Role: Co-Project Director/Principal Investigator
Funding: AAVANTIBIO
Dec 2020 ACTIVE
Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)
Role: Principal Investigator
Funding: UNIV OF KANSAS MEDICAL CTR via FASCIOSCAPULOHUMERAL SOCIETY
Sep 2020 ACTIVE
Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy
Role: Co-Investigator
Funding: NATL INST OF HLTH NIAMS
Aug 2020 ACTIVE
Development of MRI, Alternative Splicing, and Functional Abilities as Biomarkers in Myotonic Dystrophy Type 1
Role: Co-Investigator
Funding: NATL INST OF HLTH NIAMS
Jul 2020 ACTIVE
Personalized dosing of dichloroacetate for the treatment of rare and common diseases
Role: Co-Investigator
Funding: MEDOSOME BIOTEC via NATL INST OF HLTH NICHD
May 2020 – Jun 2020
HB9053 2019 – Center of Excellence for Friedreich's Ataxia Research
Role: Principal Investigator
Funding: FL DEPT OF HLTH
Mar 2020 ACTIVE
A RANDOMIZED, DOUBLE-BLIND, CONTROLLED, PHASE 2/3 STUDY TO ASSESS EFFICACY, LONG TERM SAFETY AND TOLERABILITY OF RT001 IN SUBJECTS WITH FRIEDREICHS ATAXIA
Role: Principal Investigator
Funding: *RETROTOPE
Nov 2019 ACTIVE
A Phase 2, Randomized, Double-Blind, Placebo-Controlled, 24-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects with Facioscapulohumeral Muscular Dystrophy (FSHD)
Role: Principal Investigator
Funding: PPD INVESTIGATOR SERVICES LLC via FULCRUM THERAPEUTICS INC
Aug 2019 – Aug 2024
An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients with Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients with Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03
Role: Principal Investigator
Funding: MEDPACE via ACCELERON PHARMA INC
Jul 2019 ACTIVE
Myotonic Dystrophy Clinical Research Network
Role: Principal Investigator
Funding: UNIV OF ROCHESTER via MUSCULAR DYSTROPHY ASSO
Jun 2019 ACTIVE
Collaborative Clinical Research Network in Friedreich's Ataxia.
Role: Principal Investigator
Funding: FRIEDRICH'S ATAXIA RESEARCH ALLIANCE
May 2019 ACTIVE
A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of BHV-4157 in Adult Subjects with Spinocerebellar Ataxia
Role: Principal Investigator
Funding: BIOHAVEN PHARMACEUTICALS
Apr 2019 – Apr 2022
Butler Research Neurology-Social Cognition: Brain imaging and social cognition in myotonic dystrophy (DM) type 1
Role: Principal Investigator
Funding: UF FOUNDATION
Apr 2019 – Apr 2022
Martino Research Fund-Social Cognition-ENDM1 Travel
Role: Principal Investigator
Funding: UF FOUNDATION
Jan 2019 – Dec 2021
Clinical Trial Readiness for SCA1 and SCA3 – Year 2
Role: Principal Investigator
Funding: HOUSTON METHODIST ACADEMIC INSTITUTE via NATL INST OF HLTH NINDS
Jan 2019 – Dec 2019
Clinical Trial Readiness for SCA1 and SCA3
Role: Principal Investigator
Funding: HOUSTON METHODIST ACADEMIC INSTITUTE via NATL INST OF HLTH NINDS
Dec 2018 ACTIVE
MDA MOVR Data Hub Participation Agreement
Role: Project Manager
Funding: MUSCULAR DYSTROPHY ASSO
Nov 2018 ACTIVE
Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type-1 (END-DM1) "Study"
Role: Principal Investigator
Funding: VA COMMONWEALTH UNIV via US FOOD AND DRUG ADMN
Sep 2018 – Sep 2023
A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients with Facioscapulohumeral Muscular Dystrophy
Role: Principal Investigator
Funding: MEDPACE via ACCELERON PHARMA INC
Jun 2018 ACTIVE
FARA-Supplemental Funding for AWD02770 FDA CHOP-Natural History of Friedreich Ataxia in Children
Role: Principal Investigator
Funding: FRIEDRICH'S ATAXIA RESEARCH ALLIANCE
Jun 2018 – Nov 2021
Myotonic Dystrophy Clinical Research Network (DMCRN) Multicenter Study of Natural History and Genetic Modifiers in Myotonic Dystrophy Type 1 (END-DM1)
Role: Principal Investigator
Funding: VA COMMONWEALTH UNIV via WYCK FOUNDATION
Jun 2018 – May 2019
Collaborative Clinical Research Network in FA
Role: Principal Investigator
Funding: FRIEDRICH'S ATAXIA RESEARCH ALLIANCE
Jun 2018 – May 2019
Collaborative Clinical Research Network in FA
Role: Principal Investigator
Funding: FRIEDRICH'S ATAXIA RESEARCH ALLIANCE
Feb 2018 – Feb 2023
A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Parallel-Arm Study to Evaluate Efficacy, Tolerability, and Pharmacokinetics of Multiple Doses of Oral TAK-831 in Adult Subjects With Friedreich Ataxia
Role: Principal Investigator
Funding: IQVIA
Jan 2018 – Dec 2018
Clinical Trial Readiness for SCA1 and SCA3
Role: Principal Investigator
Funding: HOUSTON METHODIST ACADEMIC INSTITUTE via NATL INST OF HLTH NINDS
Sep 2017 ACTIVE
Natural history of Friedreich ataxia in children
Role: Principal Investigator
Funding: CHILDRENS HOSP PHILADELPHIA via US FOOD AND DRUG ADMN
Aug 2017 – Aug 2022
A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients with Charcot-Marie-Tooth Disease Type 1 and X
Role: Principal Investigator
Funding: ACCELERON PHARMA INC
Aug 2017 – Aug 2022
A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients with Charcot-Marie-Tooth Disease Type 1 and X
Role: Principal Investigator
Funding: ACCELERON PHARMA INC
Jul 2017 – Jul 2020
Personalized dosing of dichloroacetate for the treatment of rare and common diseases
Role: Co-Investigator
Funding: MEDOSOME BIOTEC via NATL INST OF HLTH NICHD
Jul 2017 – Jun 2018
2017 MDF Conference Travel Grant
Role: Principal Investigator
Funding: MYOTONIC DYSTROPHY FOU
Jun 2017 ACTIVE
International, multi-center, double-blind 9-month follow-up extension study assessing and the long term safety and tolerability of PXT3003 in patients with Charcot-Marie-Tooth Disease type 1A
Role: Principal Investigator
Funding: PREMIER RESEARCH INTERNATIONAL via PHARNEXT
Jun 2017 – May 2018
Collaborative Clinical Research Network in Friedreich Ataxia
Role: Principal Investigator
Funding: FRIEDRICH'S ATAXIA RESEARCH ALLIANCE
Jan 2017 – Jun 2021
Muscular Dystrophy Association Clinic Grants
Role: Principal Investigator
Funding: MUSCULAR DYSTROPHY ASSO
Dec 2016 – Mar 2022
Clinical Research Consortium for the Study of Cerebellar Ataxias activities
Role: Principal Investigator
Funding: NATL ATAXIA FOUNDATION
Oct 2016 ACTIVE
A Randomized, Phase IIb/III, Double-blind, Placebo-controlled Trial of BHV-4157 in Adult Subjects with Spinocerebellar Ataxia
Role: Principal Investigator
Funding: BIOHAVEN PHARMACEUTICALS
Sep 2016 – Sep 2021
Long-Term Safety Extension Study of ACTIMMUNE? (interferon ?-1b) in Children and Young Adults with Friedreichs Ataxia
Role: Principal Investigator
Funding: HORIZON THERAPEUTICS
Jul 2016 – Jul 2019
International, multi-center, randomized, double-blind, placebo-controlled phase III study assessing in parallel groups the efficacy and safety of 2 doses of PXT3003 in patients with Charcot-Marie-Tooth Disease type 1A treated 15 months
Role: Principal Investigator
Funding: SYNEOS HEALTH via PHARNEXT
Jun 2016 – Aug 2018
Development of Magnetic Resonance Imaging as an Endpoint in Myotonic Dystrophy Type 1
Role: Co-Investigator
Funding: WYCK FOUNDATION via MYOTONIC DYSTROPHY FOU
Jun 2016 – May 2017
Collaborative Clinical Research Network in Friedreich Ataxia (CCRN in FA)
Role: Principal Investigator
Funding: FRIEDRICH'S ATAXIA RESEARCH ALLIANCE
Jan 2016 – Dec 2018
Myotonic Dystrophy Clinical Research Network
Role: Principal Investigator
Funding: UNIV OF ROCHESTER via MUSCULAR DYSTROPHY ASSO
Dec 2015 – May 2017
Multicenter, Safety and Efficacy, Open-Label Extension Study of ACTIMMUNE? (interferon ?-1b) in Children and Young Adults with Friedreichs Ataxia
Role: Principal Investigator
Funding: UNIV OF ROCHESTER via HORIZON THERAPEUTICS
Sep 2015 – Aug 2018
Dysmetria and Motor Function in SCA: Mechanisms and Rehabilitation
Role: Project Manager
Funding: NATL INST OF HLTH NINDS
Sep 2015 ACTIVE
Partnership For Magnetic Resonance Spectroscopy Biomarker Development
Role: Project Manager
Funding: UNIV OF MINNESOTA TWIN CITIES via NATL INST OF HLTH NINDS
Jul 2015 – Jun 2018
Pathophysiology of Upper and Lower Limb Motor Control in Spinocerebellar Ataxia
Role: Project Manager
Funding: NATL INST OF HLTH NINDS
Jun 2015 – May 2016
Collaborative Clinical Research Network in Friedreich's Ataxia: Clinical Outcome Measures in Friedrich's Ataxia
Role: Principal Investigator
Funding: FRIEDRICH'S ATAXIA RESEARCH ALLIANCE
Mar 2015 – May 2017
A Randomized, Multicenter, Double-blind, Placebo Controlled, Efficacy, Safety and Pharmacokinetic Study of ACTIMMUNE? (interferon Gamma-1b) in Children and Young Adults with Friedreichs Ataxia (STEADFAST)
Role: Principal Investigator
Funding: UNIV OF ROCHESTER via HORIZON THERAPEUTICS
Dec 2014 ACTIVE
A Phase 2 Study of the Safety, Efficacy, and Pharmacodynamics of RTA 408 in the Treatment of Friedreichs Ataxia
Role: Principal Investigator
Funding: TRIAL RUNNERS LLC via REATA PHARMACEUTICALS
Nov 2014 – Nov 2017
A Phase 1/2a Blinded, Placebo-Controlled Study to Assess the Safety, Tolerability, and Dose-range Finding of Multiple Ascending Doses of ISIS 598769 Administered Subcutaneously to Adult Patients with Myotonic Dystrophy Type 1
Role: Principal Investigator
Funding: INC RESEARCH INC
Jan 2014 – Mar 2016
MDA Myotonic Dystrophy Clinical Research Network
Role: Principal Investigator
Funding: MYOTONIC DYSTROPHY FOU
Jul 2007 – Aug 2016
Clinical and Translational Science Institute
Role: Project Manager
Funding: UF RESEARCH FOU
Jan 2001 – Dec 2016
00112204
Role: Principal Investigator
Funding: MUSCULAR DYSTROPHY ASSO

Education

Fellowship – Clinical Neurophysiology
1979 · Cleveland Clinic
Fellowship – Neurology
1978 · Cleveland Clinic
Internship
1975 · MacNeal Hospital
Bachelor of Medicine, Bachelor of Surgery
1971 · University of Delhi, Maulana Azad Medical College

Contact Details

Phones:
Business:
(352) 273-5000
Emails:
Addresses:
Business Mailing:
PO Box 100236
GAINESVILLE FL 32610