Sub Subramony, M.D.

Sub Subramony, M.D.

(352) 273-5550

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Publications

Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
Annals of neurology
2021

Gauging Gait Disorders with a Method Inspired by Motor Control Theories: A Pilot Study in Friedreich's Ataxia.
Sensors (Basel, Switzerland)
2021

The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3.
Parkinsonism & related disorders
2020

Temporal invariance in SCA6 is related to smaller cerebellar lobule VI and greater disease severity
The Journal of Neuroscience
2020

Temporal but not spatial dysmetria relates to disease severity in FA.
Journal of neurophysiology
2020

Sleep disorders in myotonic dystrophies.
Muscle & nerve
2020

Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood.
Nature communications
2020

Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort.
Journal of the neurological sciences
2020

Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6.
Journal of the neurological sciences
2020

"Status myotonicus" in Nav1.4-M1592V channelopathy.
Neuromuscular disorders : NMD
2020

Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor.
Cerebellum (London, England)
2019

The current state of biomarker research for Friedreich's ataxia: a report from the 2018 FARA biomarker meeting.
Future science OA
2019

Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.
Annals of clinical and translational neurology
2019

Randomized, double-blind, placebo-controlled study of interferon-γ 1b in Friedreich Ataxia.
Annals of clinical and translational neurology
2019

Psychometric properties of the Friedreich Ataxia Rating Scale.
Neurology. Genetics
2019

Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology.
Acta neuropathologica communications
2019

SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.
The EMBO journal
2018

Longitudinal analysis of contrast acuity in Friedreich ataxia.
Neurology. Genetics
2018

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.
Journal of child neurology
2018

Consensus-based care recommendations for adults with myotonic dystrophy type 1.
Neurology. Clinical practice
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
2018

C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity.
Cerebellum (London, England)
2018

The Initial Symptom and Motor Progression in Spinocerebellar Ataxias.
Cerebellum (London, England)
2017

Sensory and motor cortex function contributes to symptom severity in spinocerebellar ataxia type 6.
Brain structure & function
2017

SPG7 and Impaired Emotional Communication.
Cerebellum (London, England)
2017

Impact of diabetes in the Friedreich ataxia clinical outcome measures study.
Annals of clinical and translational neurology
2017

Dystonia and ataxia progression in spinocerebellar ataxias.
Parkinsonism & related disorders
2017

Degenerative Ataxias: challenges in clinical research.
Annals of clinical and translational neurology
2017

Correction to: SPG7 and Impaired Emotional Communication.
Cerebellum (London, England)
2017

Progression of Friedreich ataxia: quantitative characterization over 5 years.
Annals of clinical and translational neurology
2016

Depression and clinical progression in spinocerebellar ataxias.
Parkinsonism & related disorders
2016

Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.
Journal of child neurology
2016

Vision related quality of life in spinocerebellar ataxia.
Journal of the neurological sciences
2015

Vascular risk factors and clinical progression in spinocerebellar ataxias.
Tremor and other hyperkinetic movements (New York, N.Y.)
2015

Repetitive finger movement performance differs among Parkinson's disease, Progressive Supranuclear Palsy, and spinocerebellar ataxia.
Journal of clinical movement disorders
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)
2015

Frataxin levels in peripheral tissue in Friedreich ataxia.
Annals of clinical and translational neurology
2015

Force dysmetria in spinocerebellar ataxia 6 correlates with functional capacity.
Frontiers in human neuroscience
2015

Coenzyme Q10 and spinocerebellar ataxias.
Movement disorders : official journal of the Movement Disorder Society
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
2015

Apraxia in anti-glutamic acid decarboxylase-associated stiff person syndrome: link to corticobasal degeneration?
Annals of neurology
2015

Altered activation of the tibialis anterior in individuals with Pompe disease: Implications for motor unit dysfunction.
Muscle & nerve
2015

Affective communication deficits associated with cerebellar degeneration.
Neurocase
2014

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
2013

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Neurology
2013

Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.
PloS one
2013

Long-term safety of dichloroacetate in congenital lactic acidosis.
Molecular genetics and metabolism
2013

Generation of neural cells from DM1 induced pluripotent stem cells as cellular model for the study of central nervous system neuropathogenesis.
Cellular reprogramming
2013

Generation of human-induced pluripotent stem cells to model spinocerebellar ataxia type 2 in vitro.
Journal of molecular neuroscience : MN
2013

Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.
Cerebellum (London, England)
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
2013

Chronic childhood ataxia: the cause depends on how you look.
Developmental medicine and child neurology
2013

Analysis of the visual system in Friedreich ataxia.
Journal of neurology
2013

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Molecular genetics and metabolism
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
2012

The National Ataxia Registry

2012

Prior Molecular Diagnostic Accuracy and Age of Disease Onset Variation in the Crc-Sca, a Multicenter Study of Spinocerebellar Ataxias

2012

Overview of autosomal dominant ataxias.
Handbook of clinical neurology
2012

Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H).
Neurology
2012

Objective home-based gait assessment in spinocerebellar ataxia.
Journal of the neurological sciences
2012

Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.
Journal of child neurology
2012

Clinical Characteristics of Spinocerebellar Ataxias 1, 2, 3 and 6

2012

Approach to ataxic diseases.
Handbook of clinical neurology
2012

Steady or not following thalamic deep brain stimulation for essential tremor.
Journal of neurology
2011

Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene.
Muscle & nerve
2011

Clinical challenges in the ataxias.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
2011

Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design.
Movement disorders : official journal of the Movement Disorder Society
2010

Elementary, my dear Dr. Allen: the case of barium toxicity and Pa Ping.
Neurology
2010

Identification of a new form of autosomal dominant spastic paraplegia.
Clinical genetics
2009

Bergmann glial S100B activates myo-inositol monophosphatase 1 and Co-localizes to purkinje cell vacuoles in SCA1 transgenic mice.
Cerebellum (London, England)
2009

Subcutaneous IGF-1 is not beneficial in 2-year ALS trial.
Neurology
2008

Health related quality of life measures in Friedreich Ataxia.
Journal of the neurological sciences
2008

Antioxidant use in Friedreich ataxia.
Journal of the neurological sciences
2008

SARA--a new clinical scale for the assessment and rating of ataxia.
Nature clinical practice. Neurology
2007

Role of tissue transglutaminase type 2 in calbindin-D28k interaction with ataxin-1.
Neuroscience letters
2007

Differential effects of polyglutamine proteins on nuclear organization and artificial reporter splicing.
Journal of neuroscience research
2007

Tissue transglutaminase crosslinks ataxin-1: possible role in SCA1 pathogenesis.
Neuroscience letters
2006

Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia.
FEBS letters
2006

Measuring Friedreich ataxia: complementary features of examination and performance measures.
Neurology
2006

Intranasal administration of IGF-I improves behavior and Purkinje cell pathology in SCA1 mice.
Brain research bulletin
2006

Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale.
Neurology
2005

Interactions between coilin and PIASy partially link Cajal bodies to PML bodies.
Journal of cell science
2005

Fragile X and company: finding the right diagnosis.
Neurology
2005

Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes.
Movement disorders : official journal of the Movement Disorder Society
2005

CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy.
Annals of neurology
2005

Tick paralysis.
Seminars in neurology
2004

Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.
Annals of neurology
2003

Dominantly inherited ataxias.
Seminars in pediatric neurology
2003

Tick paralysis in children: electrophysiology and possibility of misdiagnosis.
Neurology
2002

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
Neurology
2002

Missed diagnosis of lambert-eaton syndrome.
Journal of clinical neuromuscular disease
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
2002

What is Kearns-Sayre syndrome after all?
Archives of neurology
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
2001

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
Cell
2001

Calcium homeostasis and spinocerebellar ataxia-1 (SCA-1).
Brain research bulletin
2001

Autosomal dominant spinocerebellar ataxias ad infinitum?
Neurology
2001

Relationship between ataxin-1 nuclear inclusions and Purkinje cell specific proteins in SCA-1 transgenic mice.
Journal of the neurological sciences
2000

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.
Neurology
2000

'Giant' a-waves in guillain-barré syndrome.
Journal of clinical neuromuscular disease
2000

The effects of calbindin D-28K and parvalbumin antisense oligonucleotides on the survival of cultured Purkinje cells.
Research communications in molecular pathology and pharmacology
1999

Dominantly inherited ataxias.
Seminars in neurology
1999

Reduced immunoreactivity to calcium-binding proteins in Purkinje cells precedes onset of ataxia in spinocerebellar ataxia-1 transgenic mice.
Neurology
1998

Lethal neonatal autosomal recessive axonal sensorimotor polyneuropathy.
Muscle & nerve
1998

Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.
Neuron
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
1997

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Nature genetics
1997

Intrafamilial variability in Machado-Joseph disease.
Movement disorders : official journal of the Movement Disorder Society
1996

Genotypes and phenotypes.
Neurology
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
1996

Decreased parvalbumin immunoreactivity in surviving Purkinje cells of patients with spinocerebellar ataxia-1.
Neurology
1996

Treatment of hereditary ataxia with the levorotatory form of hydroxytryptophan.
Archives of neurology
1995

Treatment of childhood dermatomyositis with high dose intravenous immunoglobulin.
Pediatric neurology
1995

Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.
Annals of neurology
1995

Lupus transverse myelopathy: better outcome with early recognition and aggressive high-dose intravenous corticosteroid pulse treatment.
Journal of neurology
1995

Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.
Nature genetics
1995

Developmental changes in cerebellar endothelin-1 receptors in the neurologic mouse lurcher mutant.
Research communications in molecular pathology and pharmacology
1995

Daunomycin inhibits insulin-like growth factor I-dependent protein tyrosine phosphorylation.
Research communications in molecular pathology and pharmacology
1995

Clinical aspects of hereditary ataxias.
Journal of child neurology
1995

Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.
American journal of human genetics
1994

Degenerative ataxias.
Current opinion in neurology
1994

Decreased insulin-like growth factor I-mediated protein tyrosine phosphorylation in human olivopontocerebellar atrophy and lurcher mutant mouse.
Journal of the neurological sciences
1994

The phosphoinositide second messenger system in human OPCA and the mouse model.
Advances in neurology
1993

Stiff-man syndrome.
Southern medical journal
1992

Inositol 1,4,5-trisphosphate metabolism in the cerebella of Lurcher mutant mice and patients with olivopontocerebellar atrophy.
Journal of the neurological sciences
1992

Case report: autonomic postganglionic denervation--sural nerve and saphenous vein biopsy.
The American journal of the medical sciences
1992

Myopathy and prolonged neuromuscular blockade after lung transplant.
Critical care medicine
1991

Inositol 1,4,5-trisphosphate receptors and protein kinase C in olivopontocerebellar atrophy.
Brain research
1991

Mistaken diagnoses in continuous muscle fiber activity of peripheral nerve origin.
Pediatric neurology
1990

AAEE case report #14: neuralgic amyotrophy (acute brachial neuropathy).
Muscle & nerve
1988

Motor neuropathy associated with a facilitating myasthenic syndrome.
Muscle & nerve
1986

Lack of cold sensitivity in hyperkalemic periodic paralysis.
Muscle & nerve
1986

Exercise and rest in hyperkalemic periodic paralysis.
Neurology
1986

"Orthostatic tremor' in familial-essential tremor.
Neurology
1986

Distinguishing paramyotonia congenita and myotonia congenita by electromyography.
Muscle & nerve
1983

Diabetic proximal neuropathy. Clinical and electromyographic studies.
Journal of the neurological sciences
1982

Research Interests

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.