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Selected Publications

S. H. Subramony, M.D.

Professor

  1. Subramony SH, Wilbourn AJ.  Radicular derivation of sensory action potentials in lower extremity.  Arch Phys Med Rehab 1981; 62:590-92.

  2.  Subramony SH, Wilbourn AJ.  Diabetic proximal neuropathy - clinical and electromyographic studies. J Neuroscience 1982; 53:293-304.

  3.  Mitsumoto H, Wilbourn AJ, Subramony SH.  Generalized myokymia and gold therapy.  Arch Neurol 1982; 39; 449-50.

  4.  Subramony SH, Malhotra CP, Mishra SK.  Distinguishing paramyotonia congenita and myotonia congenita by electromyography.  Muscle & Nerve 1983; 6(5):374-79.

  5.  Subramony SH, Mitsumoto H, Mishra SK.  Motor neuropathy associated with a facilitating myasthenic syndrome.  Muscle & Nerve 1986; 9(1):64-68.

  6.  Subramony SH, Wee AS.  Exercise and rest in hyperkalemic periodic paralysis.  Neurol 1986; 36:173-77.

  7.  Subramony SH, Wee AS, Mishra SK.  Lack of cold sensitivity in hyperkalemic periodic paralysis.  Muscle & Nerve 1986; 9:700-703.

  8.  Millette TJ, Subramony SH, Wee AS, Harisdangkul V.  Systemic lupus erythematosus presenting as recurrent Guillian-Barre syndrome.  Eur Neurol 1986; 25:397-402.

  9.  Wee AS, Subramony SH, Currier RD.  Orthostatic tremor in familial-essential tremor.  Neurol 1986; 36:1241-45.

  10.  Subramony SH.  Neuralgic amyotrophy (acute brachial neuropathy).  AAEE Case Report #14.  Muscle & Nerve 1988; 11(1):39-44.

  11.  Stept ME, Subramony SH.  Peripheral neuropathy associated with Protriptyline.  J Am Acad Chid Adolesc Psychiat 1988; 27(3):377-80.

  12.  Subramony SH.  Electrophysiological findings in crutch palsy.  Electromyography Clin Neurophysiology 1989; 29:281-85.

  13.  Subramony SH, Parker CC, Evans OB, Hanson RR.  Mistaken diagnosis in continuous muscle fiber activity.  Pediatric Neurol 1990; 6(4):257-59.

  14.  Desaiah D, Vig PJS, Subramony SH, Currier RD.  Inositol 1, 4, 5-trisphosphate receptors and protein kinase C in olivopontocerebellar atrophy.  Brain Research 1991; 552:36-40.

  15.  Subramony SH, Carpenter DE, Raju S, Pride M, Evans OB.  Myopathy and profound neuromuscular blockade after lung transplant.  Crit Care Med 1991; 19(12):1580-82.

  16.  Montani M, Subramony SH, Langford HG, Klein AT.  Case report:  autonomic postganglionic denervation - sural nerve and saphenous vein biopsy.  Am J Med Sci. 1992; 303(5):324-28.

  17.  Hoffman EP, Arahata K, Minetti C, Bonilla E, Rowland LP, Subramony SH et al.  Dystrophinopathy in isolated cases of myopathy in females.  Neurol 1992; 42:967-75.

  18.  Clifton ER, Subramony SH.  Stiff-Man syndrome.  S Med J 1992; 85(7):711-13.

  19.  Kwiatkowski, Jr. TJ, Orr HT, Banfi S, McCall AE, Jodice C, Persichetti F, Novelletto A,  LeBorgne-DeMarquoy F, Duvick LA, Frontali M, Subramony SH et al.  The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination in nine large kindreds with a dinucleotide repeat at the AM10 locus.  Am J. Human Genetics 1993; 53:391- 400.

  20.  Vig PJS, Desaiah D, Joshi P, Subramony SH and Fratkin JD.  Decreased insulin-like growth factor-I-mediated protein tyrosine phosphorylation in human olivopontocerebellar atrophy and the Lurcher mutant mouse. J of Neurological Sci. 1994; 124:38-44.

  21.  Ranum LPW, Chung M, Banfi S, Bryer A, Schut LJ, Ramesar R, Duvick LA, McCall A, Subramony SH et al.  Molecular and clinical correlations in spinocerebellar ataxia type I:  evidence for familial effects on the age of onset.  Am J Human Genet 1994; 55:244-252.

  22.  Harisdangkul V, Doorenbos DI, Subramony SH.  Lupus transverse myelopathy: better outcome with early recognition and aggressive high dose intravenous (IV) corticosteroid pulse treatment. J Neurology 1995; 242:326-331.

  23.  Mattila T, McCall A, Subramony SH, Zoghbi HY.  Molecular and clinical correlations in spinocerebellar ataxia 3 and Machado-Joseph disease.  Ann Neurol 1995; 38:68-72.

  24.  Chong SS, McCall A, Cota J, Subramony SH, Orr HT, Hughes MR, Zoghbi  HY.  Gametic and somatic tissue-specific heterogeneity of the expanded SCA-1 CAG repeat in spinocerebellar ataxia type I.  Nature Genetics 1995; 10(7):344-50.

  25.  Vig PJS, Desaiah D and Subramony SH.  Daunomycin inhibits insulin-like growth factor-I-dependent protein tyrosine phosphorylation.  Res Comm. Mol Path & Pharmacology 1995; 89:3-15.

  26.  Subramony SH.  Clinical aspects of hereditary ataxias.  J Child Neurology 1995; 10(5)[Sept]:353-62.

  27.  Vig PJS, Desaiah D, Subramony SH and Fratkin JD.  Developmental changes in cerebellar endothelin-1 receptors in the neurologic mouse Lurcher mutant.  Res Commun. in Mol Path and Pharm. 1995; 89(3):307-16.

  28.  Vedanarayanan V, Subramony SH, Ray LI and Evans OB. Treatment of childhood dermatomyositis with high dose intravenous immunoglobulin.  Pediatric Neurology 1995; 13(4):336-39.

  29.  Subramony SH, Fratkin J and Manyam B.  Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the SCA-1 or MJD locus. Movement Disorders 1996; 11(2):174-80.

  30.  Subramony SH (member ALS CNTF Treatment Study Group).  A double-blind placebo-controlled clinical trial of subcutaneous recombinant human ciliary neurotrophic factor (rHCNTF) in amyotrophic lateral sclerosis.  Neurology 1996; 46:1244-49.

  31.  Vig PJS, Fratkin JD, Desaiah D, Currier RD, and Subramony SH. Decreased parvalbumin immunoreactivity in Purkinje cells in SCA-1.  Neurology 1996; 47(1): 249-53.

  32.  Subramony SH and Currier RD. Intrafamilial variability in Machado-Joseph Disease. Movement Disorders 1996; 11:741-743.

  33.  Currier RD and Subramony SH.  Genotypes and phenotypes.  Neurology 1996; 47(2):613-614.

  34.  Trouillas P, Takayanagi M, Hallett M, Currier RD, Subramony SH et al.  International cooperative ataxia rating scale for pharmacological assessment of the cerebellar syndrome.  J Neurological Sciences 1996; 143:1-7

  35.  Jin H, May M, Tranebjaerg L, Kendall E, Fontan F, Jackson J, and Subramony SH et al.  A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.  Nature Genetics 1996; 14(10):177-180.

  36.  Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH et al.  Autosomal dominant cerebellar ataxia (SCA6) associated with small poly-glutamine expansions in the alpha1a-voltage-dependent calcium channel.  Nature Genetics 1997; 15:62-69.

  37.  Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH et al.  Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.  Neuron 1997; 19:333-344.

  38.  Vig PJS, Subramony SH, Burright EN, Fratkin JD et al.  Reduced immunoreactivity to calcium-binding proteins in Purkinje cells precedes onset of ataxia in spinocerebellar ataxia-1 (SCA-1) transgenic mice.  Neurology 1998;50:106-113.

  39.  Vedanarayanan V, Subramony SH, Bock G.  Lethal neonatal autosomal recessive axonal sensorimotor neuropathy.  Muscle & Nerve 1998; 21:1473-1477.

  40.  Subramony SH Stambler N, Charatan M, Cederbaum JE, and the ALS CNTF Treatment Group.  Prognostic indicators of survival in ALS.  Neurology 1998; 509:66-71.

  41.  Subramony SH and Nance M.  Diagnosis and management of the inherited ataxias.   The Neurologist 1998; 4(6) 327-338.

  42.  Subramony, SH.  Spinocerebellar ataxia-3.  In Pagon RA, Bird TA, Dolan CR, Popo-vich B, eds.  GENLINE Medical Genetics Knowledge Base.  University of Washington, Seattle, 1998.

  43.  Vig PJS, McDaniel DO, Subramony SH, Qin Z.  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;103 (3):249-259.

  44.  Subramony SH, Vig PJS, McDaniel O.  Dominantly inherited ataxias. Seminars in Neurology 1999; 19(4):419-425.

  45.  Vig PJS, Subramony SH, Qin, Z, McDaniel DO, Fratkin JD.  Relationship between ataxin-1 nuclear inclusions and Purkinje cell specific proteins in SCA-1 transgenic mice.  J Neurol Sci. 2000; 174:100-110.

  46.  Scacheri P, Hoffman EP, Semino-Mara C, Sonchak A, Davis MD, Laing NG, Vedanarayanan VV, Subramony SH.  A novel ryanodine receptor mutation causing both cores and rods in congenital myopathy.  Neurology 2000; 55:1689-1696.

  47.  Subramony SH.  Inherited Ataxias.  In: Connally M, ed.  AAN Continuum 2000; 6 (6):73-99.

  48.  Wee AS and Subramony SH.  ‘Giant’ A-waves in Guillian-Barre syndrome.  J Clin Neuromuscular Diseases 2000; 2 (2):113-115.

  49.  Subramony SH and Filla A.  Autosomal dominant spinocerebellar ataxias ad infinitum? Neurology 2001; 56:287-289.

  50.  Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Soemori A, Donaldson MR, Iannaccone S, Brunt E, Barohn R, Clark J, Deymeer F, George, Jr. AL, Hahn A, Nitu A, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptacek LJ.  Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen’s syndrome.  Cell 2001; 105:511-519.

  51.  Escolar DM, Henricson EK, Mayhew J, Florence J, Leshner R, Patel KM, Lafleur B, Caro J, Yaron Y, Wagner KR, Goemans N, Buyse G, Vedanarayanan VV, Subramony SH, Wessel H, Cwik V, Garcia C, Bertorini T, Clemens PR.  Clinical evaluator reliability for quantitative and manual muscle testing measures of strength in children.  Muscle & Nerve 2001; 24:787-793.

  52.  Ashizawa T and Subramony SH.  What is Kearns-Sayre Syndrome after all?  Arch Neurol 2001; 58(July):1053-1054.

  53.  Vig, PJS, Subramony SH.  Calcium homeostasis and spinocerebellar ataxia-1 (SCA-1).   Brain Research Bulletin 2001; 56(3/4):221-225.

  54.  McDaniel DO, Keats B, Vedanarayanan VV, Subramony SH.  Interrupted sequence of trinucleotide GAA repeat expansion associated with extreme phenotypic variations in Friedreich’s ataxia.  Movement Disorders 2001; 16(6):1153-1158.

  55.  Scacheri PC, Gillanders E, Subramony SH, Vedanarayanan VV, Crowe CA, Thakore N, Bingler M, Hoffman EP.  Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology 2002; 58:593-602.

  56.  Vedanarayanan VV, Evans OB, Subramony SH.  Tick paralysis in children: electro-physiology and possibility of misdiagnosis.  Neurology 2002; 59:1088-1090.

  57.  Chandler A, Wee A, Vedanarayanan V, Subramony SH.  Mistaken diagnosis in Lambert-Eaton Syndrome.  (Accepted, J Neuromuscular Diseases)

  58.  Subramony SH, Hernandez, D, Adam A, Smith-Jefferson S, Hussey J, Gwinn-Hardy K, Lynch T, McDaniel O, Hardy J, Farrer M, Singleton A. Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Movement Disorders 17 (5); 1068-1071 (2002).

  59.  Subramony S H, Schott K, Raike RS, Callahan, J, Langford L, Christova PS, Anderson JH, Gomez CM.  Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.  Ann Neurol 2003; 54:725-731.

  60.  Vedanarayanan V, Sorey WH, Subramony SH.  Tick Paralysis.  Seminars in Neurology, Volume 24 Number 2, 2004; 181-184

  61.  Subramony SH, May W, Lynch D et al: Measuring Friedreich’s Ataxia: Interrater reliability of a neurologic rating scale. Neurology 64:1261-1262, 2005

  62.  Subramony SH, Freidrich,C, Jankowiak J: Fragile X and Company: Finding the right diagnosis Neurology 65; E3-34, 2005

  63.  Subramony S H: Genetics of Inherited Ataxias. Continuum. Volume on Neurogenetics (2005) 115-142

  64.  Maschke M, Oehlert G, Xie T-D, Perlman, S, Subramony SH, Kumar N, Ptacek L, and Gomez C. Clinical profile of spinocerebellar ataxia 1-8 predicts genetically defined subtypes. Movement Disorders 20; 1405-1412, 2005

  65.  Sun J, Xu H, Subramony SH, Hebert M. Interactions between coilin and PIASy partially link Cajal bodies to PML bodies. Journal of Cell Science. 118:4995-5003, 2005

  66.  Escolar DM, Buyse G, Henricson E, Leschner R……Subramony SH, Vedanarayanan VV, Wessel H, CINRG group. CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy. Annals of Neurology 58:151-155, 2005.

  67.  Lynch D, Farmer J, Tsou A, Perlman S, Subramony SH, Gomez C, Ashizawa T, Wilmot G, Wilson R and Belcer L. Measuring Friedreich Ataxia. Complementary features of examination and performance measures. Neurology 66:1711-1716 2006

  68.  Vig PJS, Subramony SH, D’Souza DR, Wei J, Lopez ME. Intranasal administration of IGF-1 improves behavior and Purkinje cell pathology in SCA 1 mice. Brain Research Bulletin 69:573-579, 2006

  69.  Grant L, Sun J, Xu H, Subramony SH, Chaires JB and Hebert MD.  Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich’s ataxia FEBS Letters.  580:5399-5405, 2006

  70.  D’Souza D, Wei J, Lopez ME, Hebert M, Subramony SH, Vig PJ.  Tissue transglutaminase cross-links ataxin 1: possible role in SCA 1 pathogenesis.  Neuroscience Letters 409: 4-9, 2006

  71.  Subramony SH: Commentary on Scale for assessment and rating of ataxia. Nature Neurology Clinical Practice Vol. 3 No. 3; 137, 2007

  72.  Sun J, Xu S, Subramony SH, Hebert MD.  Differential effects of polyglutamine proteins on nuclear organization and artificial reporter splicing.  J Neurosci Res 85: 2306-2317, 2007