Selected Peer Reviewed Scientific Articles

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Peer Reviewed Publications

Jinnah HA, Hess EJ, Wilson MC, Gage FH, Friedmann T. Localization of hypoxanthine-guanine phosphoribosyltransferase mRNA in the mouse brain by in situ hybridization. Molecular and Cellular Neurosciences, 3:64-78, 1992. pdf

Jinnah HA, Langlais PJ, Friedmann T. Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan disease.Journal of Pharmacology and Experimental Therapeutics, 263:596-607, 1992. pdf

Jinnah HA, Wojcik BE, Hunt M, Narang N, Lee KY, Wamsley JK, Goldstein M, Langlais PJ, Friedmann T. Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. Journal of Neuroscience, 14:1164-1175, 1994. pdf

Campbell DB and Hess EJ. Cerebellar circuitry is activated during convulsive episodes in the tottering (tg/tg) mutant mouse. Neuroscience,85:773-783, 1998. pdf

Campbell DB and Hess EJ. L-type calcium channels contribute to the tottering mouse dystonic episodes. Molecular Pharmacology, 55:23-31, 1999. pdf

Fureman BE, Campbell DB and Hess EJ. L-type calcium channel regulation of abnormal tyrosine hydroxylase expression in cerebella of tottering (tg) mice. New York Academy of Sciences, 868:217-219, 1999. pdf

Campbell DB, North JB and Hess EJ. Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant background. Experimental Neurology, 160:268-278, 1999. pdf

Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutation Research: Reviews in Mutation Research, 463:309-326, 2000. pdf

Jinnah HA, Sepkuty JP, Ho T, Drew T, Rothstein JD and Hess EJ. Calcium channel agonists and dystonia in the mouse. Movement Disorders,15:542-551, 2000. pdf

Fureman BE, Jinnah HA and Hess EJ. Triggers of paroxysmal dyskinesia in the calcium channel mouse mutant tottering. Pharmacology Biochemistry & Behavior, 73:631-637, 2002. pdf

Kahn Z, Jinnah HA. Paroxysmal dyskinesias in the lethargic mouse mutant. Journal of Neuroscience, 22:8193-8200, 2002. pdf

Pizoli CE, Jinnah HA, Billingsley ML and Hess EJ. Abnormal cerebellar signaling induces dystonia in mice. Journal of Neuroscience, 22:7825-7833, 2002. pdf

Fureman BE, Campbell DB and Hess EJ. Regulation of tyrosine hydroxylase expression in tottering mouse Purkinje cells. Neurotoxicity Research, 5:521-528, 2003. pdf

Jinnah HA, Egami K, Rao L, Shin MY, Kasim S and Hess EJ. Expression of c-fos in the brain after activation of L-type calcium channels. Developmental Neuroscience, 25:403-411, 2003. pdf

Weisz CJC, Raike RS, Soria-Jasso LE and Hess EJ. Potassium channel blockers inhibit the triggers of attacks in the calcium channel mouse mutant tottering. Journal of Neuroscience, 25:4141-4145, 2005. pdf

Fureman BE and Hess EJ. Noradrenergic blockade prevents attacks in a model of episodic dysfunction caused by a channelopathy. Neurobiology of Disease, 20:227-232, 2005. pdf

Mikolaenko I, Rao LM, Roberts RC, Kolb B, Jinnah HA. A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan disease. Neurobiology of Disease, 20:479-490, 2005. pdf

Schretlen DJ, Ward J, Meyer SM, Yun J, Puig JG, Nyhan WL, Jinnah HA, Harris JC. Behavioral aspects of Lesch-Nyhan disease and its variants. Developmental Medicine & Child Neurology, 47:673-677, 2005. pdf

Jinnah HA and Hess EJ. A new twist on the anatomy of dystonia: the basal ganglia and the cerebellum? Neurology, 67:1740-1741, 2006. pdf

Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I, Gonzalez-Alegre P, Neychev VK, Torres RJ, Dulac O, Desguerre I, Schretlen DA, Robey K, Barabas G, Bloem BR, Nyhan WL, deKremer R, Eddey GE, Puig J, Reich SG. Delineation of the motor disorder of Lesch-Nyhan disease, Brain, 129:1201-1217, 2006. pdf

Kasim S, Blake BL, Fan X, Chartoff E, Egami K, Breese GR, Hess EJ and Jinnah HA. The role of dopamine receptors in the neurobehavioral syndrome provoked by activation of L-type calcium channels in mice. Developmental Neuroscience , 28:505-517, 2006. pdf

Bruno KJ, and Hess EJ. The alpha2C-adrenergic receptor mediates hyperactivity of coloboma mice, a model of attention deficit hyperactivity disorder. Neurobiology of Disease, 23:679-688, 2006.

von Coelln R, Thomas B, Lim KL, Savitt JM, Saffary R, Stirling W, Bruno K, Hess, EJ, Lee MK, Dawson VL, and Dawson TM. Inclusion body formation and neurodegeneration are parkin-independent in a mouse model of alpha-synucleinopathy. Journal of Neuroscience, 26:3685-3696, 2006.

Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW, and the CINCH investigators. The primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain, 130:2484-2493, 2007.

Egami K, Yitta S, Kasim S, Lewers JC, Roberts RC, Lehar M, Jinnah HA. Basal ganglia dopamine loss due to defect in purine recycling. Neurobiology of Disease, 26:396-407, 2007. pdf

Devanagondi R, Egami K, Hess EJ and Jinnah HA. Neuroanatomical substrates for paroxysmal dyskinesia in lethargic mice. Neurobiology of Disease, 27:249-257, 2007. pdf

Shirley TL, Lewers JC, Egami K, Majumdar A, Kelly M, Ceballos-Picot I, Seidman MM, Jinnah HA. A human neuronal tissue culture model for Lesch-Nyhan disease, Journal of Neurochemistry, 101:841-853, 2007. pdf

Schretlen DJ, Inscore AB, Vannorsdall TD, Kraut M, Pearlson GD, Gordon B, Jinnah HA. Serum uric acid and brain ischemia in normal elderly adults. Neurology, 69: 1418-1423, 2007.

Smith DW, Jinnah HA. Role of neuronal nitric oxide in the dopamine deficit of HPRT-deficient mice. Metabolic Brain Disease, 22: 39-43, 2007.

Blake BL, Muehlmann AM, Egami K, Breese GR, Devine DP, Jinnah HA. Nifedipine suppresses self-injurious behavior in animals. Developmental Neuroscience, 29: 241-250, 2007.

Schretlen DJ, Inscore AB, Jinnah HA, Rao V, Gordon B, Pearlson GD. Serum uric acid and cognitive function in community-dwelling elderly adults. Neuropsychology, 21:136-140, 2007.

Bruno KJ, Freet CS, Twining RC, Grigson PS, and Hess EJ. Abnormal latent inhibition and impulsivity in coloboma mice, a model of ADHD. Neurobiology of Disease, 25:206-216, 2007.

Lewers JC, Ceballos-Picot I, Shirley TL, Mockel L, Egami K, Jinnah HA. Consequences of impaired purine recycling in dopaminergic neurons. Neuroscience , 152:761-772, 2008. pdf

Neychev VK, Fan X, Mitev VI, Hess EJ and Jinnah HA. The basal ganglia and cerebellum interact in the expression of dystonic movement. Brain, 131:2499-2509, 2008. pdf

Shirley TL, Rao LM, Hess EJ and Jinnah HA. Paroxysmal dyskinesias in mice. Movement Disorders, 23:259-264, 2008. pdf

Vannorsdall TD, Jinnah HA, Gordon B, Kraut M, Schretlen DJ. Cerebral ischemia mediates the effect of serum uric acid on cognitive function.Stroke, 39:3418-3420, 2008. pdf

Jinnah HA. Lesch-Nyhan syndrome. Emedicine, www.emedicine.com, 2008.

Shaikh AG, Jinnah HA, Tripp RM, Ramat S, Optican LM, Lenz F, Zee DS. Irregularity distinguishes limb tremor in cervical dystonia from essential tremor. Journal of Neurology, Neurosurgery, & Psychiatry, 79: 187-189, 2008. PMCID: 2737356.

Chen G, Popa LS, Wang X, Gao W, Barnes J, Hendrix CSG, Hess EJ and Ebner TJ. Low-frequency oscillations in the cerebellar cortex of the tottering mouse. Journal of Neurophysiology, 101:234-45, 2009. pdf

Bertelli M, Alushi B, Veicsteinas A, Jinnah HA, Micheli V. Gene expression and mRNA editing of serotonin receptor 2C in brains of HPRT gene knock-out mice, an animal model of Lesch-Nyhan disease. Journal of Clinical Neuroscience, 16: 1061-1063, 2009. pdf

Ea HK, Bardin T, Jinnah HA, Aral B, Liote X, Ceballos-Picot, I. Severe gouty arthritis and mild neurological symptoms due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (F199C). Arthritis & Rheumatism, 60: 2201-2204, 2009. PMCID: 2925154. pdf

Addy C, Assaid C, Hreniuk D, Stroh M, Xu Y, Herring WJ, Ellenbogen A, Jinnah HA, Kirby L, Leibowitz MT, Stewart RM, Tarsy D, Tetrud J, Stoch A, Wagner J. Single-dose administration of MK-0657, a NR2B-selective NMDA antagonist, does not result in clinically meaningful improvement in motor function in patients with moderate Parkinson’s disease. Journal of Clinical Pharmacology, 49: 856-864, 2009. pdf

Micheli V, Jacomelli G, DiMarcello F, Notarantonio L, Sestini S, Cerboni B, Bertelli M, Pompucci G, Jinnah HA. NAD metabolism in HPRT-deficient mice. Metabolic Brain Disease, 24: 309-311, 2009.

Scholle HC, Jinnah HA, Arnold D, Biedermann FH, Faenger B, Grassme R, Hess EJ and Schumann NP. Kinematic and electromyographic tools for characterizing movement disorders in mice. Movement Disorders, 25:265-274, 2010. pdf

Fan X, Xu M, Hess EJ. D2 dopamine receptor subtype-mediated hyperactivity and amphetamine responses in a model of ADHD. Neurobiology of Disease, 37:228-236, 2010. pdf

Jinnah HA, Ceballos-Picot I, Torres R, Visser J, Schretlen D, Verdu A, Larovere L, Chen CJ, Cossu A, Wu CH, Chang SJ, Dodelson de Kremer R, Nyhan W, Harris J, Reich S, Puig JG. Attenuated variants of Lesch-Nyhan disease. Brain, 13:671-689, 2010. pdf

Shen WB, McDowell KA, Siebert AA, Clark SM, Dugger NV, Valentino KM, Jinnah HA, Sztalryd C, Fishman PS, Shaw CA, Jafri MS, Yarowsky PJ. Environmental neurotoxin-induced progressive model of Parkinson's disease in rats. Annals of Neurology, 68:70-80, 2010. pdf

Kang TH, Guibinga GH, Jinnah HA, Freidmann T. HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: A neuro-developmental regulatory role for a housekeeping gene? PLoS One, 6:e16572, 2011. pdf

Sampat R, Rong F, Larovere LE, Torres RJ, Ceballos-Picot I, Fischbach M, de Kreme R, Schretlen DJ, Puig JH, Jinnah HA. Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants. Human Genetics, 129:71-78, 2011. pdf

Shamim EA, Chu J, Schneider L, Savitt J, Jinnah HA, Hallet M. Extreme task specificity in writer's cramp. Movement Disorders, 26:2107-2109, 2011. pdf

Visser JE, Schretlen DJ, Bloem BR, Jinnah HA. Levodopa is not a useful treatment for Lesch-Nyhan disease. Movement Disorders, 26:746-749, 2011. pdf

White L, Klein A, Hapner E, Delgaudio J, Hanfelt J, Jinnah HA, Johns MM. Co-prevalence of tremor with spasmodic dysphonia: a case control study. The Laryngoscope, 121:1752-1755, 2011. pdf

White LJ, Hapner ER, Klein AM, Delgaudio JM, Hanfelt JJ, Jinnah HA, Johns MM. Co-prevalence of anxiety and depression with spasmodic dysphonia: A case control study. Journal of Voice, 26:667, 2012. pdf

Todorov B, Hoebeek FE, Kros L, Shyti R, Haasdijk E, Raike RS, Frants RR, Hess EJ, De Zeeuw CI, van den Maagdenberg, AMJM. Purkinje cell-specific ablation of CaV2.1 channels is sufficient to cause cerebellar ataxia in mice. The Cerebellum, 11:246-258, 2012. pdf

Fan X, Hughes KE, Jinnah HAHess EJ. Selective and sustained AMPA receptor activation in cerebellum induces dystonia in mice. Journal of Pharmacology and Experimental Therapeutics, 340:733-741, 2012. (featured as a journal highlight) pdf

Lee H-Y, Nadayama J, Xu Y, Fan X, Karouani M, Shen Y, Pothos EN, Hess EJ, Fu Y-H, Edwards RH, Ptacek LJ. Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. Journal of Clinical Investigation, 22:507-518, 2012. pdf

Song CH, Fan X, Exeter CJ, Hess EJJinnah HA. Functional analysis of dopaminergic systems in a DYT1 knock-in mouse model of dystonia. Neurobiology of Disease, 48:66-78, 2012. pdf

Raike RS, Pizoli CE, Weisz C, van den Maagdenberg AMJM, Jinnah HAHess EJ. Limited regional cerebellar dysfunction induces focal dystonia in mice. Neurobiology of Disease, 49:200-210, 2012.

Freeman A, Pranski, E, Miller D, Radmard S. Bernhard D, Jinnah HA, Betarbet, R, Rye, D. Sanyal, S. Sleep fragmentation and motor restlessness in a Drosophila model of restless legs syndrome. Current Biology, 22:1142-1148, 2012. pdf

Fu R, Jinnah HA. Genotype-phenotype correlations in Lesch-Nyhan disease and its variants: Moving beyond the gene. Journal of Biological Chemistry, 287: 2997-3008, 2012. pdf

Guibinga GH, Hrustanovic G, Bouic K, Jinnah HA, Friedmann T. MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: Clues for Lesch-Nyhan disease? Human Molecular Genetics, 21: 609-622, 2012. pdf

Revuelta GJ, Benatar M, Freeman A, Wichmann T, Jinnah HA, DeLong MR, Factor SA. Clinical subtypes of anterocollis in parkinsonian syndromes. Journal of the Neurological Sciences, 315:100-103, 2012. pdf

Ceballos-Picot I, Auge F, Fu R, Olivier-Bandini A, Cahu J, Chabrol B, Aral B, de Martinville B, Lecain J.P, Jinnah HA. Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase. Molecular Genetics & Metabolism, 110: 268-274, 2013. pdf

Creighton FX, Hapner ER, Klein AM, Rosen A, Jinnah HA Johns MM. Diagnostic delays in spasmodic dysphonia: A call for clinician education. Journal of Voice, 2013. pdf

Defazio G, Hallett M, Jinnah HA, Berardelli A. Development and validation of a clinical guideline for diagnosing blepharospasm. Neurology, 81: 236-240, 2013. pdf

Douglas TD, Jinnah HA, Bernhard D, Singh R. The effects of sapropterin on urinary monoamine metabolites in phenylketonuria. Molecular Genetics & Metabolism, 109: 243-250, 2013. pdf

Goettle M, Burhenne H, Sutcliffe D, Jinnah HA. Purine metabolism during neuronal differentiation: the role of purine synthesis and recycling. Journal of Neurochemistry, 127: 805-818, 2013. pdf

Hand LE, Saer BR, Hui ST, Jinnah HA, Steinlechner S, Loudon AS, Bechtold DA. Induction of the metabolic regulator txnip in fasting-induced and natural torpor. Endocrinology, 154: 2081-2091, 2013. pdf

Khooshnoodi MA, Factor SA, Jinnah HA. Secondary blepharospasm associated with structural lesions of the brain. Journal of the Neurological Sciences, 331: 98-101, 2013. pdf

Mari Z, Rosenthal LS, Darwin KC, Hallet M, Jinnah HA. Clinical Reasoning: A 57 year old man with jaw spasms. Neurology, 80:e104-e107, 2013. pdf

Oancea I, Png CW, Das I, Lourie R, Windler IG, Eri R, Subramaniam N, Jinnah HA, McWhinnery BC, Levesque JP, McGuckin MA, Duley JA, Florin TH. A novel mouse model of veno-occlusive disease provides strategies to prevent thioguanine-induced hepatic toxicity. Gut, 62: 594-605, 2013.

Schretlen DJ, Varvaris M, Ho TE, Vannorsdall TD, Gordon B, Harris JC, Jinnah HA. Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: A cross-sectional study. Lancet Neurology, 12: 1151-1158, 2013. pdf

Tiderington E, Goodman EM, Rosen AR, Hapner ER, Johns MM, Evatt ML, Freeman A, Factor S Jinnah HA. How long does it take to diagnose cervical dystonia? Journal of the Neurological Sciences, 335: 72-74, 2013. pdf

Shaikh AG, Wong AL, Zee DS, Jinnah HA. Keeping your head on target. Journal of Neuroscience, 33: 11281-11295, 2013. pdf

Prudente CN, Pardo CA, Xiao J, Hanfelt J, Hess EJ, LeDoux MS, Jinnah HA. Neuropathology of cervical dystonia. Experimental Neurology, 241:95-104, 2013. pdf

Song CH, Bernhard D, Bolarinwa C, Hess EJ, Smith Y, Jinnah HA. Subtle microstructural changes of the striatum in a DYT1 knock-in mouse model of dystonia. Neurobiology of Disease, 54:362-371, 2013. pdf

Raike RS, Weisz C, Hoebeek FE, Terzi MC, De Zeeuw CI, van den Maagdenberg AMJM, Jinnah HAHess EJ. Stress, caffeine and ethanol trigger attacks of transient neurological dysfunction through shared mechanisms in a mouse calcium channelopathy. Neurobiology of Disease, 50:151-159, 2013. pdf

Song CH, Bernhard D, Hess EJJinnah HA. Subtle microstructural defects of the cerebellum in a knock-in mouse model of DYT1 dystonia. Neurobiology of Disease, 62:372-280, 2014. pdf

Lohr KM, Bernstein AI, Stout KA, Dunn AR, Lazo CR, Alter SP, Want M, Li Y, Fan X, Hess EJ, Yi H, Vecchio LM, Goldstein DS, Guillot TS, Salahpour A, Miller GW. Increased vesicular monoamine transporter enhances dopamine release and opposes Parkinson disease-related neurodegeneration in vivo. Proceedings of the National Academy of Science, 111:9977-9982, 2014.

Dauphinot L, Mockel L, Cahu J, Jinnah HA, LeDroit M, Poitier MC, and Ceballos-Picot I. Transcriptomic approach to Lesch-Nyhan disease. Nucleosides, Nucleotides and Nucleic Acids, 33: 208-217, 2014.

Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Vguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JG, O'Neill PJ, Jinnah HA. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model. Brain, 137:1282-1303, 2014. pdf

Goettle M, Prudente CN, Ru R, Sutcliffe D, Pang H, Cooper D, Veledar E, Glass JD, Gearing M, Visser JE, Jinnah HA. Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease. Annals of Neurology, 76: 95-107, 2014.

Vemula SR, Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Truong DD, Frei K, Blitzer A, Rudkinska M, Momcilovic D, Jinnah HA, Pfeiffer RF, LeDoux MS. A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia. Molecular Genetics and Genomic Medicine, 2: 261-272, 2014. pdf

Jinnah HA, Albanese A. New concepts for dystonia. Feature article in Moving Along: The Official Newsletter of the International Parkinson and Movement Disorder Society, 18: 6-7, 2014.

Reveulta GJ, Montilla J, Benatar M, Freeman A, Wichmann T, Jinnah HA, Delong MR, Factor SA. An (18)FDG PET study of cervical muscle in parkinsonian anterocollis. Journal of the Neurological Sciences, 340: 174-177, 2014. pdf

Rose SJ, Kreiner LH, Heinzer AK, Fan X, Raike RS, van den Maagdenberg AMJM, Hess EJ. The first knockin mouse model of episodic ataxia type 2. Experimental Neurology, doi: 10.1016/j.expneurol.2014.08.001, 2014. pdf

Luciano A, Jinnah HA, Pfeiffer RF, Truong DD, Nance MA, LeDoux, MS. Treatment of myoclonus-dystonia syndromes with tetrabenazine. Parkinsonism & Related Disorders, 20: 1423-1426, 2014. pdf

Shaikh AG, Mewes K, Jinnah HA, DeLong MR, Gross RE, Triche S, Freeman A, Factor SA. Globus pallidus deep brain stimulation for adult-onset axial dystonia. Parkinsonism and Related Disorders, 20: 1279-1282, 2014. pdf

Goodman EM, Torres RJ, Puig JG, Jinnah HA. Consequences of delayed dental extraction in Lesch-Nyhan disease. Movement Disorders Clinical Practice, 1: 225-229, 2014.

Defazio G, Hallett M, Jinnah HA, Stebbins GT, Gigante AF, Ferrazzano G, Conte A, Fabbrini G, Berardelli A. Development and validation of a clinical scale for rating the severity of blepharospasm. Movement Disorders, 30:525-30, 2015.

Yan L, Hicks M, Winslow K, Comella C, Ludlow C, Jinnah HA, Rosen AR, Wright L, Galpern WR, Perlmutter JS. Secured, web-based video repository for multicenter studies. Parkinsonism and Related Disorders, 21: 366-371, 2015. pdf

Schretlen DJ, Varvaris M, Vannorsdall TD, Gordon B, Harris JC, Jinnah HA. Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants. Neurology, 84: 190-196, 2015.

Jinnah HA and Factor SA. Diagnosis and treatment of dystonia. In Neurologic Clinics, 33: 77-100, 2015. pdf

Fu R, Sutcliff D, Zhao H, Huang X, Schretlen DJ, Benkovic S, Jinnah HA. Clinical severity in Lesch-Nyhan disease: The role of residual enzyme activity and compensatory pathways. Molecular Genetics & Metabolism, 114: 55-61, 2015. pdf

Dammer EB, Goettle M, Dong DM, Hanfelt J, Seyfried NT, Jinnah HA. Consequences of impaired purine recycling on the proteome in a cellular model of Lesch-Nyhan disease. Molecular Genetics & Metabolism, 114: 570-9, 2015. pdf

Creighton FX, Hapner ER, Klein AM, Rosen A, Jinnah HA Johns MM. Diagnostic delays in spasmodic dysphonia: A call for clinician education. Journal of Voice, in press, 2015. pdf

Shaikh AG, Mewes K, DeLong MR, Triche SD, Jinnah HA, Freeman A, Alexander GE, Aia P, Butefisch CM, Esper CD, Factor SA. Temporal profile of improvement in tardive dystonia after globus pallidus deep brain stimulation. Parkinsonism and Related Disorders, 21: 116-119, 2015. pdf

Shaikh AG, Wong A, Zee DS, Jinnah HA. Why are voluntary head movements in cervical dystonia slow? Parkinsonism and Related Disorders, 21: 561-6, 2015. pdf

Schretlen DJ, Callon W, Ward RE, Fu R, Ho T, Gordon B, Harris JC, Jinnah HA. Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling? Journal of Inherited Metabolic Disease, in press, 2015.

Rose SJ, Yu XY, Heinzer AK, Harrast P, Fan X, Raike RS, Thompson VB, Pare JF, Weinshenker D, Smith Y, Jinnah HA and Hess EJ. A new knockin mouse model of L-DOPA-responsive dystonia. Brain, in press.

Prudente, CN, Stilla, R, Buetefisch, C, Sing, S, Hess EJ, Hu, X., Sathian, K. and Jinnah, H.A. Neural substrates for head movements in humans: a functional magnetic resonance imaging study. Journal of Neuroscience, 35: 9163-72, 2015. pdf

Jinnah HA, Teller JK and Galpern WR. Recent developments in dystonia. Curr Opin Neurol, 28(4):400-5, 2015.

Berman BD and Jinnah HA. Dystonia: Five new things. Neurol Clin Pract. 5(3):232-240, 2015.

Invited Reviews, Commentaries, and Editorials:

Hess EJ. Migraines in Mice? Cell, 87:1149-1151, 1996. pdf

Visser JE, Baer P, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Research Reviews, 463:309-326, 2000. pdf

Jinnah HA, Hess EJ, LeDoux M, Sharma N, Baxter M and Delong M. Rodent models for dystonia research: characteristics, evaluation and utility. Movement Disorders, 20:283-292, 2005. pdf

Raike RS, Jinnah HA, and Hess EJ. Animal models of generalized dystonia. NeuroRx, 2:504-512, 2005. pdf

Jen JC, Graves TD, Hess EJ , Hanna MG, Griggs RC, Baloh RW, and the CINCH investigators. The primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain, 130:2484-2493, 2007. pdf

Ludlow CL, Adler CH, Berke GS, Bielamowicz SA, Blitzer A, Bressman, SB, Hallett M, Jinnah HA , Juergens U, Martin SB, Perlmutter JS, Spaienza C, Singleton A, Tanner CM, Woodson GE. Research priorities in spasmodic dysphonia. Otolaryngology Head & Neck Surgery, 139: 495-505, 2008. pdf

Jinnah HA, Richter A, Mink JW, Caldwell GA, Caldwell K, Gonzales-Allegre P, Cookson MR, Breakefield XO, Delong MR and Hess EJ. Animal models for drug discovery in dystonia. Expert Opinion on Drug Discovery, 3:83-97, 2008. pdf

Jinnah HA and Hess EJ. Experimental therapeutics in dystonia. Neurotherapeutics, 5:198-209, 2008. pdf

Cloud LJ, Jinnah HA. Treatment strategies for dystonia. Expert Opinion in Pharmacotherapy, 11: 5-15, 2010. pdf

Jinnah HA. Lesch-Nyhan disease: from mechanism to model and back again. Disease Models & Mechanisms, 2: 116-121, 2009. pdf

Cloud LJ, Jinnah HA. Treatment strategies for dystonia. Expert Opinion in Pharmacotherapy, 11: 5-15, 2010. pdf

Hess EJ, Jen JC, Jinnah HA. Neuronal voltage-gated calcium channels: brief overview of their function and clinical implications in neurology.Neurology, 75:937, 2010. ,

Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Larovere LE, Chung CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG. Attenuated variants of Lesch-Nyhan disease: The case of King James VI/I. Brain, 133: e134, 2010. pdf

Sanger TD, Chen D, Fehlings D, Hallett M, Lang AE, Mink JW, Singer H, Alter K, Ben-Pazi H, Butler E, Chen R, Collins A, Damiano D, Dayanidhi S, Forssberg H, Fowler E, Gilbert DL, Gorman SI, Gormley ME, Jinnah HA, Kornblau B, Krosschell K, Lehman RK, MacKinnon C, Malanga CJ, Mesterman, R, Michaels MB, Pearson TS, Rose J, Russman B, Sternad D, Swoboda K, Valero-Cuevas F. Definition and classification of hyperkinetic movements in childhood. Movement Disorders, 25: 1538-1549, 2010. pdf

Fu R, Jinnah HA. Different phenotypes among Lesch-Nyhan variants: Clinical reality or limitation of ascertainment? Archives of Neurology, 68: 270-271, 2011.

Jinnah HA. Needles in haystacks: The challenge of rare diseases. Developmental Medicine & Child Neurology, 53: 6-7, 2011. pdf

Jinnah HA, Hallett M. In the wink of an eye: nature and nuture in blepharospasm. Neurology, 77: 616-617, 2011.

Neychev VK, Gross R, Lehericy S, Hess EJJinnah HA. The functional neuroanatomy of dystonia. Neurobiology of Disease, 42: 185-201, 2011. pdf

Thompson VB, Jinnah HAHess, EJ. Convergent mechanisms in etiologically diverse dystonias. Expert Opinion on Therapeutic Targets. 15: 1387-1403, 2012. pdf

Torres RJ, Puig JG, Jinnah HA. Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants. Current Rheumatology Reports, 14: 189-194, 2012. pdf

Albanese A, Bhatia K, Bressman SB, DeLong MR, Fahn S, Fung VSC, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AEW, Mink JW, Teller JK. Phenomenology and classification of dystonia: A consensus update. Movement Disorders, 15: 863-873, 2013. pdf

Albanese A, Del Sorbo F, Comella C, Jinnah HA, Mink JW, Post B, Vidailet M, Volkmann J, Warner T, Leentjens AFG, Martinez-Martin P, Stebbins GT, Goetz CG, Schrag, A. Dystonia rating scales: critique and recommendations. Movement Disorders, 15: 874-883, 2013.

Fung VSC, Jinnah HA, Bhatia K, Vidailhet M. Assesment of the patients with isolated or combined dystonia: an update on dystonia syndromes. Movement Disorders, 15: 889-898, 2013. pdf

Jinnah HA, Berardelli A, Comella C, Defazio G, DeLong MR, Factor SA, Galpern WR, Hallett M, Ludlow CL, Perlmutter J, Rosen A. The focal dystonias: current views and challenges for future research. Movement Disorders, 15: 926-943, 2013. pdf

Wilson BK, Hess EJ. Animal models for dystonia. Movement Disorders, 15:982-989, 2013. pdf

Jinnah HA, DeLong MR, Hallett M. The dystonias: Past, present and future. Movement Disorders, 15: 849-850, 2013. pdf

Fu R, Chen C-J, Jinnah HA. Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease. Molecular Genetics & Metabolism, 112: 280-285, 2014. pdf

Galpern WR, Coffey CS, Albanese A, Cheung K, Comella CL, Ecklund DJ, Fahn S, Jankovic J, Kieburtz K, Lang AE, McDermott MP, Shefner JM, Teller JK, Thompson JLP, Yeatts SD, Jinnah HA. Designing clinical trials for dystonia. NeuroRx, 11: 117-127, 2014. pdf

Prudente CN, Hess EJ, Jinnah HA. Dystonia as a network disorder: what is the role of the cerebellum? Neuroscience, 260:23-25, 2014. pdf

Book Chapters:


Jinnah HA, Reimschisl T. The dystonias. In Current Therapy of Neurologic Disease, 7th Edition, Johnson RT, Griffin JW, MacArthur J, Eds. Mosby Inc, St. Louis MO, 2005. pdf

Hess EJ and Jinnah HA. Mouse models of dystonia. In Animal Models of Movement Disorders, M.S. LeDoux (ed.), Elsevier Academic Press, 265-278, 2005. pdf

Jinnah HA and Hess EJ. Assessment of movement disorders in rodents. In Animal Models of Movement Disorders, M.S. LeDoux (ed.), Elsevier Academic Press, 55-72, 2005. pdf

Hess EJ, and Jinnah HA. Mouse models of dystonia. In Animal Models of Movement Disorders, M.S. LeDoux (ed.), Elsevier Academic Press, 265-278, 2005.

Jinnah HA. Lesch-Nyhan disease. In Treatment of Pediatric Neurologic Disorders, Singer HS, Kossoff EH, Crawford TO, Hartman AL, Eds. Taylor & Francis, Boca Raton FL, 2005.

Visser JE, Schretlen DJ, Harris JC, Jinnah HA. Lesch-Nyhan disease. In Handbook of Neurodevelopmental & Genetic Disorders in Adults, Reynolds C, Goldstein S, Eds. The Guilford Press, New York, 2005.

Jinnah HA, Savitt J. Movement Disorders. Chapter 62 in The Johns Hopkins Internal Medicine Board Review, 2nd Ed., Miller RG, Ashar BH, Sisson SD, Eds, pp 545-552, 2008.

Jinnah HA, Harris JC. Hypoxanthine-guanine phosphoribosyltransferase deficiency. Encyclopedia of Molecular Mechanisms of Disease, Chapter 917, in press, 2008.

Puig, JG, Torres RJ, Verdu A, Jinnah HA. An unusual cause for stuttering. Movement Disorders: 100 Instructive Cases, Reich SG, Ed, 2008.

Raike, R.S., Jinnah HA, and Hess EJ. Kainic Acid Model of Dystonia. In Encyclopedia of Movement Disorders, Kompoliti K., and Verhagen Metman, L. (eds.), Academic Press, Oxford, vol. 2, 101-102, 2010.

Hess EJ and Jinnah HA. Animal Models of Dystonia. In Encyclopedia of Movement Disorders, Kompoliti K., and Verhagen Metman, L. (eds.), Academic Press, Oxford, 2010.

Jinnah HA. Lesch-Nyhan disease. In Encyclopedia of Movement Disorders, Comella C, Kompoliti K, and Verhagen L, Eds., 2010.

Fan X, Bruno KJ, and Hess EJ. Rodent models of ADHD. In Behavioral Neurobiology of Attention Deficit Disorder and its Treatment, Stanford, C and Tannock R. (eds) from the series Current Topics in Behavioral Neuroscience, Ellenbroek, B., Geyer, M. and Marsden, C. (eds), Springer-Verlag Berlin Heidelberg 9:273-300, 2012.

Jinnah HA. Lesch-Nyhan Disease. In The 5-Minute Neurology Consult, Lynn J, Newton HB, Rae-Grant AD, Eds. Wolter Kluwer - Lippincott, Williams & Wilkens, Phildelphia PA, pp 254-255, 2012.

Jinnah HA, Sabina RL, Van den Berghe G. Metabolic disorders of purine metabolism affecting the nervous system. In Handbook of Clinical Neurology 113: Pediatric Neurology Part III. Dulac O, Lassonde M, Sarnat H, Eds., Elsevier Publishers, 11: 1827-1836 2013. pdf

Kamatani N, Jinnah HA, Hennekam RCM, Kuilenburg ABP. Chapter 99: Purine & Pyrimidine Metabolism. In Emery & Rimoin’s Principles and Practice of Medical Genetics, Rimoin D, Pyeritz R, Korf B, Eds., Elsevier Publishers, Elsevier, 2013.

Markowski-Leeman BA, Jinnah HA. Lesch-Nyhan disease and epilepsy. In Inherited Metabolic Epilepsies, Pearl PL, Ed., Demos Medical Publishing LLC, New York, 2013.

Rose SJ, and Hess EJ. Mouse models of episodic ataxia type 2. In Movement Disorders: Genetics and Models, 2nd edition, M.S. LeDoux (ed.), Elsevier Academic Press, 809-814, 2015.

Jinnah HAHess, EJ. Assessment of movement disorders in mice. Chapter 4 in Movement Disorders: Genetics and Models, LeDoux MS, Ed. Elsevier Academic Press, Amsterdam, 2015.

Jinnah HA, Prudente CN, Rose SJ, Hess EJ. The neurobiology of dystonia. In Neurobiology of Disease 2nd Ed, in press 2015