Sub Subramony, M.D.
Professor
Department:
MD-NEUROMUSCULAR NEUROLOGY
Business Phone:
(352) 273-5000
Business Email:
s.subramony@neurology.ufl.edu
About Sub Subramony
My name is Sub Subramony, MD, and I am a board-certified neurologist and neuromuscular medicine specialist at the Norman Fixel Institute for Neurological Diseases at UF Health. I also serve as a professor in the University of Florida Department of Neurology with a joint appointment in pediatrics.
I received my medical degree from Delhi University in 1971 and completed my neurology residency in 1978 and my neuromuscular medicine fellowship in 1980 at the Cleveland Clinic.
Every day, I am inspired by the many patients and families I have cared for over the years. In clinic, I see patients with a variety of neuromuscular disorders and have a focus on inherited conditions, including Friedreich ataxia (FA), spinocerebellar ataxias, muscular dystrophies, Charcot-Marie-Tooth disease, myotonia congenita, myopathies and more, but I have extensive experience in all aspects of neuromuscular medicine. Little known secret: many of my patients nicknamed me Dr. Sam!
As many of these conditions are chronic and disabling conditions that often have no “approved” therapies, I aim to provide the best advice regarding ancillary care methods but also to bring meaningful research efforts to these patients.
While research is important, research divorced from patient care is not meaningful to clinical efforts. My research involves interventional and observational projects, including many first in-human trials for genetic neuromuscular diseases such as Friedreich ataxia, myotonic dystrophy, facioscapulohumeral dystrophy and spinocerebellar ataxias. My overall focus is to bring hope to patients living with these disorders and their families. I have been a key contributor, as a Southeastern hub, for many international collaborative efforts in FA, spinocerebellar ataxias (SCAs), myotonic dystrophy and facioscapulohumeral dystrophy (FSHD).
During my free time, I travel to New York City frequently to see my children and grandchildren and enjoy watching the young ones grow and play. When I’m in Gainesville, I enjoy hiking the Hawthorne trails, reading non-fiction books and listening to classical music. Over the last few years, I have become interested in listening to talks on population genetics; what an amazing field.
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
2022-2023
PAS5020 Intro to Medicine 2
Board Certifications
-
American Board of Neurology, special certificate in Neuromuscular MedicineAmerican Baord of Psychiatry and Neurology
-
NeurologyAmerican Board of Psychiatry and Neurology
Clinical Profile
Specialties
- Neurology
Subspecialties
- Neuromuscular Medicine
Areas of Interest
- Adult muscular dystrophy
- Ataxia
- Becker muscular dystrophy
- Facioscapulohumeral muscular dystrophy
- Friedreich ataxia
- Hyperkalemic periodic paralysis
- Hypokalemic periodic paralysis
- Movement – uncoordinated
- 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.
Open Researcher and Contributor ID (ORCID)
0000-0002-8052-9240
Areas of Interest
- Facioscapulohumeral dystrophy
- Friedreich’s ataxia
- Mitochondrial myopathy
- Myotonic Dystrophy
- Spinocerebellar Ataxia
Publications
2024
A Milestone in the Treatment of Ataxias: Approval of Omaveloxolone for Friedreich Ataxia.
Cerebellum (London, England).
23(2):775-777
[DOI] 10.1007/s12311-023-01568-8.
[PMID] 37219716.
2024
Assessing Long-Term Neurologic Outcomes in SAMD9L-Related Ataxia-Pancytopenia Syndrome.
Movement disorders clinical practice.
11(6):728-733
[DOI] 10.1002/mdc3.14038.
[PMID] 38594844.
2024
Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia.
Pediatric cardiology.
[DOI] 10.1007/s00246-024-03429-5.
[PMID] 38427090.
2024
Emerging therapies in hereditary ataxias
Trends in Molecular Medicine.
[DOI] 10.1016/j.molmed.2024.07.008.
2024
Evaluating mFARS in pediatric Friedreich’s ataxia: Insights from the FACHILD study
Annals of Clinical and Translational Neurology.
11(5):1290-1300
[DOI] 10.1002/acn3.52057.
[PMID] 38556905.
2024
Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias.
Movement disorders clinical practice.
11(5):496-503
[DOI] 10.1002/mdc3.14006.
[PMID] 38419568.
2024
Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.
Journal of neurology.
271(4):1844-1849
[DOI] 10.1007/s00415-023-12118-x.
[PMID] 38063871.
2024
Friedreich Ataxia Caregiver-Reported Health Index
Neurology Clinical Practice.
14(3)
[DOI] 10.1212/cpj.0000000000200300.
2024
Perspectives of the Friedreich ataxia community on gene therapy clinical trials.
Molecular therapy. Methods & clinical development.
32(1)
[DOI] 10.1016/j.omtm.2023.101179.
[PMID] 38261944.
2024
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data
Annals of Clinical and Translational Neurology.
11(1):4-16
[DOI] 10.1002/acn3.51897.
[PMID] 37691319.
2024
Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation
Annals of Clinical and Translational Neurology.
11(9):2392-2405
[DOI] 10.1002/acn3.52154.
2024
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
medRxiv : the preprint server for health sciences.
[DOI] 10.1101/2024.01.17.23298671.
[PMID] 38293186.
2024
Roussy-Lévy Syndrome: Pes Cavus, Tendon Areflexia, Amyotrophy, Gait Ataxia, and Upper Limb Tremor in a Patient with CMT Neuropathy
Tremor and Other Hyperkinetic Movements.
14(1)
[DOI] 10.5334/tohm.846.
[PMID] 38344215.
2024
Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.
The Lancet. Neurology.
23(5):477-486
[DOI] 10.1016/S1474-4422(24)00073-5.
[PMID] 38631764.
2024
SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
Journal of neurology.
271(7):3743-3753
[DOI] 10.1007/s00415-024-12475-1.
[PMID] 38822840.
2024
Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar Ataxia.
Movement disorders : official journal of the Movement Disorder Society.
[DOI] 10.1002/mds.29934.
[PMID] 39056163.
2024
The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias.
Cerebellum (London, England).
23(4):1411-1425
[DOI] 10.1007/s12311-023-01651-0.
[PMID] 38165578.
2023
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
The Lancet. Neurology.
22(3):218-228
[DOI] 10.1016/S1474-4422(23)00001-7.
[PMID] 36804094.
2023
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3
Neurology.
100(17)
[DOI] 10.1212/wnl.0000000000207088.
2023
Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3
Annals of Neurology.
93(4):686-701
[DOI] 10.1002/ana.26573.
[PMID] 36511514.
2023
Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia.
Journal of neurology.
270(3):1615-1623
[DOI] 10.1007/s00415-022-11501-4.
[PMID] 36462055.
2023
Efficacy of Omaveloxolone in Friedreich’s Ataxia: Delayed-Start Analysis of the MOXIe Extension.
Movement disorders : official journal of the Movement Disorder Society.
38(2):313-320
[DOI] 10.1002/mds.29286.
[PMID] 36444905.
2023
Friedreich’s Ataxia-Health Index
Neurology Clinical Practice.
13(5)
[DOI] 10.1212/cpj.0000000000200180.
2023
Patient-Reported Impact of Symptoms in Friedreich Ataxia
Neurology.
100(8)
[DOI] 10.1212/wnl.0000000000201598.
2023
The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.
Cerebellum (London, England).
22(5):790-809
[DOI] 10.1007/s12311-022-01424-1.
[PMID] 35962273.
2022
A natural history study to track brain and spinal cord changes in individuals with Friedreich’s ataxia: TRACK-FA study protocol.
PloS one.
17(11)
[DOI] 10.1371/journal.pone.0269649.
[PMID] 36410013.
2022
A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia.
Frontiers in molecular biosciences.
9
[DOI] 10.3389/fmolb.2022.933788.
[PMID] 36133907.
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
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.
Orphanet journal of rare diseases.
17(1)
[DOI] 10.1186/s13023-022-02568-3.
[PMID] 36371255.
2022
Inherited Ataxias in Children.
Pediatric neurology.
131:54-62
[DOI] 10.1016/j.pediatrneurol.2022.04.004.
[PMID] 35490578.
2022
Natural History of Friedreich Ataxia
Neurology.
99(14)
[DOI] 10.1212/wnl.0000000000200913.
2022
Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
Neurology.
98(23)
[DOI] 10.1212/wnl.0000000000200325.
2022
Scale for Ocular motor Disorders in Ataxia (SODA).
Journal of the neurological sciences.
443
[DOI] 10.1016/j.jns.2022.120472.
[PMID] 36403298.
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 & 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
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
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 (Vol 105, Pg 34, 2012)
Molecular Genetics and Metabolism.
106(3):384-394
[DOI] 10.1016/j.ymgme.2012.03.016.
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.
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.
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
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
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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
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1991
Inositol 1,4,5-trisphosphate receptors and protein kinase C in olivopontocerebellar atrophy.
Brain research.
552(1):36-40
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1991
Myopathy and prolonged neuromuscular blockade after lung transplant.
Critical care medicine.
19(12):1580-2
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1990
Mistaken diagnoses in continuous muscle fiber activity of peripheral nerve origin.
Pediatric neurology.
6(4):257-9
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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
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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
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1982
Diabetic proximal neuropathy. Clinical and electromyographic studies.
Journal of the neurological sciences.
53(2):293-304
[PMID] 7057213.
Grants
Jul 2024
ACTIVE
AOC 1020-CS2, A Phase 2 Open-label Extension Study to Evaluate the Long-Term Safety, Tolerability, Efficacy, and Pharmacokinetics of AOC 1020 Administered Intravenously to Adult Participants with Facioscapulohumeral Muscular Dystrophy (FSHD)
Role: Principal Investigator
Funding: AVIDITY BIOSCIENCES
Jul 2024
ACTIVE
The MDA Care Center at University of Florida Health: FY25-FY27
Role: Principal Investigator
Funding: MUSCULAR DYSTROPHY ASSO
May 2024
ACTIVE
A Phase 1/2a Double-Blind, Placebo-controlled, Single- and Multiple Ascending Dose Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Clinical Efficacy of Intravenous Administration of ATX-01 In Male and Female Participants aged 18 to 64 with Classic Myotonic Dystrophy Type 1 (DM1)
Role: Principal Investigator
Funding: ARTHEX BIOTECH
Apr 2024
ACTIVE
Jive: An Open Label Extension Study to Assess the Longterm
Safety, Efficacy, Pharmacodynamics, Pharmacokinetics,
and Tolerability of Subcutaneous CTI-1601 in Subjects with
Friedreichs Ataxia
Role: Principal Investigator
Funding: LARIMAR THERAPEUTICS
Apr 2024
ACTIVE
Contribution of Repeat Associated Non-AUG (RAN) Proteins in Friedreich's and Other Hereditary Ataxias
Role: Project Manager
Funding: US ARMY MED RES ACQUISITION
Mar 2024
ACTIVE
Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study #1016
Role: Principal Investigator
Funding: FRIEDREICHS ATAXIA RESEARCH ALLIANCE
Aug 2023
– Aug 2024
Enhancing Our Understanding of Physical Activity in Myotonic Dystrophy Type 1
Role: Co-Investigator
Funding: VA COMMONWEALTH UNIV
via AVIDITY BIOSCIENCES
Jun 2023
ACTIVE
Measurement of Frataxin mRNA in NHP and human biofluids
Role: Other
Funding: FRIEDREICHS ATAXIA RESEARCH ALLIANCE
Apr 2023
ACTIVE
A Study to Assess Video Hand Opening Time and Ambulation in Healthy Volunteers and Individuals with Myotonic Dystrophy Type 1
Role: Principal Investigator
Funding: VERTEX PHARMACEUTICALS
Apr 2023
ACTIVE
Circadian Rhythm Disturbances in Myotonic Dystrophy Type 1
Role: Principal Investigator
Funding: VA COMMONWEALTH UNIV
via VERTEX PHARMACEUTICALS
Feb 2023
ACTIVE
A Randomized, Double-blind, Placebo-controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of AOC 1020 Administered Intravenously to Adult Participants with Facioscapulohumeral Muscular Dystrophy (FSHD)
Role: Principal Investigator
Funding: AVIDITY BIOSCIENCES
Feb 2023
ACTIVE
END-DM1 Patient Reimbursement
Role: Principal Investigator
Funding: VA COMMONWEALTH UNIV
via TAKEDA PHARMACEUTICAL COMPANY LIMITED
Feb 2023
ACTIVE
CTOA Subramony
Role: Principal Investigator
Funding: UNIV OF FLORIDA
Oct 2022
ACTIVE
A Phase 3 Global, Randomized, Double-Blind, Placebo-Controlled,
48-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod
in Treating Patients with Facioscapulohumeral Muscular Dystrophy
Role: Principal Investigator
Funding: PPD INVESTIGATOR SERVICES LLC
via FULCRUM THERAPEUTICS INC
Sep 2022
ACTIVE
FDA – Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type-1 (Renewal)
Role: Principal Investigator
Funding: VA COMMONWEALTH UNIV
via US FOOD AND DRUG ADMN
Sep 2022
ACTIVE
Muscular Dystrophy Clinical Trial Research Network
Role: Principal Investigator
Funding: UNIV OF KANSAS MEDICAL CTR
via MUSCULAR DYSTROPHY ASSO
Jul 2022
ACTIVE
A Phase 2 Extension Study to Evaluate the Long-Term Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of AOC 1001 Administered Intravenously to Adult Myotonic Dystrophy Type 1 (DM1) Patients
Role: Principal Investigator
Funding: AVIDITY BIOSCIENCES
Jun 2022
ACTIVE
A Phase 1, Blinded, Randomized, Placebo-controlled Study to Investigate the Safety, Tolerability, and Pharmacokinetics of Multiple Ascending Doses of BIIB132 Administered Intrathecally to Adults With Spinocerebellar Ataxia 3
Role: Principal Investigator
Funding: BIOGEN MA INC
Mar 2022
– Feb 2023
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
Feb 2022
ACTIVE
A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Pitolisant on Excessive Daytime Sleepiness and Other Non-Muscular Symptoms in Patients with Myotonic Dystrophy Type 1, Followed by an Open-Label Extension
Role: Principal Investigator
Funding: HARMONY BIOSCIENCES
via PRA HEALTH SCIENCES
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: 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
– Dec 2022
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
– Dec 2023
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: ADVANCED CLINICAL LLC
via 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
Contribution of RAN proteins to HD, SCA3 other CAG.CTG expansion diseases
Role: Project Manager
Funding: NATL INST OF HLTH NINDS
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
– Jun 2024
Muscular Dystrophy Association Clinic Grants
Role: Principal Investigator
Funding: MUSCULAR DYSTROPHY ASSO
Jul 2021
– Feb 2024
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: RENEO PHARMA
May 2021
– Jun 2021
CMS, COHBI – Powell Research for Rare Disease
Role: Principal Investigator
Funding: FL DEPT OF HLTH
Jan 2021
– Dec 2022
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 FACIOSCAPULOHUMERAL SOCIETY
Sep 2020
ACTIVE
Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy
Role: Co-Investigator
Funding: NATL INST OF HLTH NIAMS
Aug 2020
– Jun 2024
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
– Jul 2023
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
– Jun 2022
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
– Jun 2022
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: FRIEDREICHS 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
– Aug 2022
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
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
– Aug 2022
FARA-Supplemental Funding for AWD02770 FDA CHOP-Natural History of Friedreich Ataxia in Children
Role: Principal Investigator
Funding: FRIEDREICHS ATAXIA RESEARCH ALLIANCE
Jun 2018
– May 2019
Collaborative Clinical Research Network in FA
Role: Principal Investigator
Funding: FRIEDREICHS 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 Holdings
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
– Aug 2022
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
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
– May 2022
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: PHARNEXT
Jun 2017
– May 2018
Collaborative Clinical Research Network in Friedreich Ataxia
Role: Principal Investigator
Funding: FRIEDREICHS ATAXIA RESEARCH ALLIANCE
Jan 2017
– Jun 2021
Muscular Dystrophy Association Clinic Grants
Role: Principal Investigator
Funding: MUSCULAR DYSTROPHY ASSO
Dec 2016
ACTIVE
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
– Jul 2018
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: FRIEDREICHS 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
– May 2022
Partnership For Magnetic Resonance Spectroscopy Biomarker Development
Role: Project Manager
Funding: UNIV OF MINNESOTA
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: FRIEDREICHS 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:
- Business:
- s.subramony@neurology.ufl.edu
Addresses:
- Business Mailing:
-
PO Box 100268
GAINESVILLE FL 32610 - Business Street:
-
3011 SW WILLISTON RD RM 1103
GAINESVILLE FL 32608