Dystonia Coalition Publications

Total publications: 180

Primary peer-reviewed publications: 116
Reviews, commentaries, chapters, letters: 64


Primary peer-reviewed publications

  1. Wang M, Sajobi T, Morgante F et al. Predictive modeling of spread in adult-onset isolated dystonia: Key properties and effect of tremor inclusion. Eur J Neurol. 2021; 28: 3999-4009. PMCID: in progress
  2. Fagan M, Scorr L, Bernhardt D. Neuropathology of blepharospasm. Exp Neurol. 2021; 346:113855. PMCID: PMC8490317.
  3. Sedov A, Popov V, Gamaleya A et al. Pallidal neuron activity determines responsiveness to deep brain stimulation in cervical dystonia. Clin Neurophysiol 2021; 132: 3190-3196. PMCID: in progress
  4. Kilic-Berkmen G, Pirio Richardson S, Perlmutter JS et al. Current Guidelines for Classifying and Diagnosing Cervical Dystonia: Empirical Evidence and Recommendations. MDCP, Nov 2021. https://doi.org/10.1002/mdc3.13376. PMCID: in progress
  5. Defazio G, Jinnah HA, Berardelli A et al. Diagnostic criteria for blepharospasm: A multicenter international study.  Parkinsonism and Related Disorders. 2021; 91: 109–114. PMCID: in progress
  6. Scorr LM, Factor FA, Parra SP et al and Jinnah HA for the Dystonia Coalition Investigators. Oromandibular Dystonia: A Clinical Examination of 2,020 Cases. Front. Neurol. 2021. https://doi.org/10.3389/fneur.2021.700714. PMCID: in progress
  7. Cisneros E, Vu JP, Lee HY et al. Does raising the arms modify head tremor severity in cervical dystonia? Tremor and Other Hyperkinetic Movements. 2021. doi: 10.5334/tohm.623. PMCID: PMC8231450.
  8. Sun YV, Li C, Hui Q et al. A Multi-center Genome-wide Association Study of Cervical Dystonia. Movement Disorders. 2021; 36: 2795-2801. PMCID: PMC8688173.
  9. Wang M, Sajobi T, Morgante F et al. Predictive modelling of spread in adult-onset isolated dystonia: key properties and effect of tremor inclusion. European Journal of Neurology. 2021; 28:3999-4009. PMCID: In progress.
  10. Wadon ME, Bailey GA, Yilmaz Z et al. Non-motor phenotypic subgroups in adult-onset idiopathic, isolated, focal cervical dystonia. Brain Behav. 2021; 11: e2292. PMCID: PMC8413761.
  11. Younce JR, Campbell MC, Hershey T et al. Resting-State Functional Connectivity Predicts STN DBS Clinical Response. Mov Disord. 2021; 36: 662-671. PMCID: PMC7987812.
  12. Visser JE, Cotton AC, Schretlen DJ et al. Deep brain stimulation in Lesch-Nyhan disease: outcomes from the patient's perspective. Dev Med Child Neurol. 2021; 63: 963-968. PMCID: PMC8350791.
  13. Vu JP, Lee HY, Chen Q et al. Head tremor and pain in cervical dystonia. J Neurol. 2021; 268: 1945-1950. PMCID: PMC8076053
  14. Junker J, Berman BD, Hall J et al. Quality of life in isolated dystonia – non-motor manifestations matter. J Neurol Neurosurg Psychiatry 2021 Feb 9; jnnp-2020-325193. doi: 10.1136/jnnp-2020-325193. Online ahead of print. PMCID: PMC8356023.
  15. Liu C, Scorr L, Kilic-Berkmen G et al. A metabolomic study of cervical dystonia. Parkinsonism and Related Disorders. 2021; 82: 98-103. PMCID: PMC7856090.
  16. Shaikh AG, Beylergil SB, Scorr L et al. Dystonia & tremor: A cross-sectional study of the dystonia coalition cohort. Neurology. 2021; 96: e563-e574. PMCID: PMC7905789.
  17. Cisneros E, Stebbins GT, Chen Q et al. It's tricky: Rating alleviating maneuvers in cervical dystonia. Journal of the Neurological Sciences. 2020; 419:117205. PMCID: PMC7728456.
  18. Norris SA, Morris AE, Campbell MC et al. Regional, not global, functional connectivity contributes to isolated focal dystonia. Neurology. 2020; 95: e2246-e2258. PMCID: PMC7713779.
  19. Norris SA, Jinnah HA, Klein C et al. Clinical and Demographic Characteristics of Upper Limb Dystonia. Mov Disord. 2020; 35 :2086-2090. PMCID: PMC8350751.
  20. Sedov A, Usova S, Semenova U et al. Activity in Cervical Dystonia with and without Head Tremor. Cerebellum. 2020; 19: 409-418. PMCID: PMC8327359.
  21. Berman BD, Groth CL, Shelton E et al. responses are abnormal in isolated cervical dystonia. J Neurosci Res. 2020; 98: 692-703. PMCID: PMC7015799.
  22. Groth CL, Brown M, Honce JM et al. Cervical Dystonia Is Associated with Aberrant Inhibitory Signaling Within the Thalamus. Front Neurol. 2021; 11: 575879. PMCID: PMC7900407
  23. Mahmood M, Kwon S, Kilic Berkmen G et al. Soft Nanomembrane Sensors and Flexible Hybrid Bioelectronics for Wireless Quantification of Blepharospasm. IEEE Trans Biomed Eng. 2020; 67:3094-3100. PMCID: PMC7604814.
  24. Chen Q, Vu JP, Cisneros E et al. Postural Directionality and Head Tremor in Cervical Dystonia. Tremor Other Hyperkinet Mov. 2020; 20: 10. PMCID: PMC6988138.
  25. Berman BD, Groth CL, Sillau SH et al.  Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study. J Neurol Neurosurg Psychiatry. 2020; 9: 314-320. PMCID: PMC7024047.
  26. Kwon Y-T, Yongkuk Lee Y, Kilic Berkmen G et al. Soft Material-Enabled, Active Wireless, Thin-Film Bioelectronics for Quantitative Diagnostics of Cervical Dystonia. Adv. Mater. Technol. 2019; 4: :1900458.  PMCID: PMC7546326.
  27. Beylergil SB, Singh AP, Zee DS et al. Relationship between jerky and sinusoidal oscillations in cervical dystonia. Parkinsonism Relat Disord. 2019; 66: 130-137. PMCID: In progress. [Research Support]
  28. Pyatka N, Sedov A, Walter BL et al. Tremor in chronic inflammatory demyelinating polyneuropathy: Proof of unifying network model for dystonia. Prog Brain Res. 2019; 249: 285-294. PMCID: In progress.
  29. Sedov A, Semenova U, Usova S et al. Implications of asymmetric neural activity patterns in the basal ganglia outflow in the integrative neural network model for cervical dystonia. Prog Brain Res. 2019; 249: 261-268. PMCID: In progress.
  30. Kim CY, Petersen MS, Eliasen EH et al. Involuntary Thumb Flexion on Neurological Examination: An Unusual Form of Upper Limb Dystonia in the Faroe Islands. Tremor Other Hyperkinet Mov. 2019; 20: 9. PMCID: PMC6702791. [Research Support]
  31. Mencacci NE and Jinnah HA. Naming Genes for Dystonia: DYT-z or Ditzy? Tremor Other Hyperkinet Mov. 2019; 28: 9. PMCID: PMC6714488. [Research Support]
  32. Sedov A, Usova S, Semenova U et al. The role of pallidum in the neural integrator model of cervical dystonia. Neurobiol Dis. 2019; 125: 45-54. PMCID: PMC6467510.
  33. Benadof CN, Cisneros E, Appelbaum MI et al. Sensory Tricks Are Associated with Higher Sleep-Related Quality of Life in Cervical Dystonia. Tremor Other Hyperkinet Mov. 2019; 17: 9. PMCID: PMC6691623.
  34. Laura L.O. Froeschke. The Influence of Linguistic Demand on Symptom Expression in Adductor Spasmodic Dysphonia. Journal of Voice. 2020; 34: 807.e11-807.e21. PMCID: In Progress
  35. Merola A, Dwivedi AK, Shaikh AG et al. Head tremor at disease onset: an ataxic phenotype of cervical dystonia. J Neurol. 2019; 266: 1844-1851. PMCID: PMC6642013.
  36. Witek N, Hebert C, Gera A, Comella C. Progressive Encephalomyelitis with Rigidity and Myoclonus Syndrome Presenting as Catatonia. Psychosomatics. 2019; 60: 83-87. PMCID: In Progress.
  37. Ludlow CL, Domangue R, Sharma D et al. Consensus-Based Attributes for Identifying Patients with Spasmodic Dysphonia and Other Voice Disorders. JAMA Otolaryngol Head Neck Surg. 2018; 144: 657-665. PMCID: PMC6143004.
  38. Espay AJ, Trosch R, Suarez G et al. Minimal clinically important change in the Toronto Western Spasmodic Torticollis Rating Scale. Parkinsonism Relat Disord. 2018; 52: 94-97. PMCID: In Progress.
  39. Junker J, Brandt V, B.D. B, Vidailhet M et al. Predictors of alcohol responsiveness in dystonia. Neurology 2018; 91: 2020-2026. PMCID: PMC6260199.
  40. Mahajan A, Jankovic J, Marsh L et al. Cervical dystonia and substance abuse. J Neurol. 2018; 265: 970-975.  PMCID: In Progress.
  41. Cotton AC, Bell RB, Jinnah HA. Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example. JIMD Rep. 2018; 41: 25-27. PMCID: PMC6122048.
  42. Shaikh AG, Antoniades C, Fitzgerald J et al. Effects of deep brain stimulation on eye movements and vestibular function. Front Neurol. 2018; 9: 444. PMCID: PMC6005881.
  43. Kang SL, Shaikh AG, Ghasia FF. Vergence and strabismus in neurodegenerative disorders. Front Neurol. 2018; 9: 299. PMCID: PMC5964131.
  44. Morris AE, Norris SA, Perlmutter JS et al. Quantitative, clinically relevant acoustic measurements of focal embouchure dystonia. Mov Disord. 2018; 33: 449-458. PMCID: PMC5839997.
  45. Rizvi MT, Cameron L, Kilbane C et al. Paraneoplastic seesaw nystagmus and opsoclonus provides evidence for hyperexcitable reciprocally innervating mesencephalic network. J Neurol Sci. 2018; 390: 239-245. PMCID: In Progress. 
  46. Scorr LM, Silver MR, Hanfelt J et al. Pilot single-blind trial of AbobotulinumtoxinA in oromandibular dystonia. Neurotherapeutics. 2018; 15: 452-458. PMCID: PMC5935649. [Clinical trial]
  47. Wagle Shukla A, Ostrem JL, Vaillancourt DE et al. Physiological effects of subthalamic nucleus deep brain stimulation surgery in cervical dystonia. J Neurol Neurosurg Psychiatry. 2018; 89: 1296-1300. PMCID: PMC7498178.
  48. Popa T, Hubsch C, James P et al. Abnormal cerebellar processing of the neck proprioceptive information drives dysfunctions in cervical dystonia. Nat Sci Rep. 2018; 8: 2263. PMCID: PMC5797249.
  49. Espay AJ, Maloney T, Vannest J et al.  Dysfunction in emotion processing underlies functional (psychogenic) dystonia. Mov Disord. 2018; 33: 136-145. PMCID: PMC5767134.
  50. Shi LL, Simpson CB, Hapner E et al. Pharyngeal dystonia mimicking spasmodic dysphonia.  J. Voice. 2018; 32: 234-238. PMCID: PMC5931712.
  51. Conte A, Ferrazzano G, Defazio G et al. Increased blinking may be a precursor of blepharospasm: a longitudinal study. Mov Disord Clin Pract. 2017; 4: 733-736. PMCID: PMC5654574.
  52. Shaikh AG, Finkelstein SR, Schuchard R et al. Fixational eye movements in Tourette syndrome. Neurol Sci. 2017; 38: 1977-1984. PMCID: PMC6246774.
  53. Shaikh AG, Ghasia FF. Novel eye movement disorders in Whipple's Disease-staircase horizontal saccades, gaze-evoked nystagmus, and esotropia. Front Neurol. 2017; 8: 321. PMCID: PMC5504231.
  54. Shaikh AG, Ghasia FF. Fixational saccades are more disconjugate in adults than in children. PLoS One. 2017; 12: e0175295. PMCID: PMC5391133.
  55. Kang S, Shaikh AG. Acquired pendular nystagmus. J Neurol Sci. 2017; 375: 8-17. PMCID: PMC5363284.
  56. Shaikh AG, Straumann D, Palla A. Motion illusion-evidence towards human vestibulo-thalamic projections. Cerebellum. 2017; 16: 656-663. PMCID: PMC5429207.
  57. Li Z, Prudente CN, Stilla R et al. Alternations of resting state fMRI measurements in individuals with cervical dystonia. Hum Brain Mapp. 2017; 38: 4098-4108. PMCID: PMC5553075.
  58. Berman BD, Junker J, Shelton E et al. Psychiatric associations of adult-onset focal dystonia phenotypes. J Neurol Neurosurg Psychiatry. 2017; 88: 595-602. PMCID: PMC5659143.
  59. Pirio Richardson S, Wegele A, Skipper B et al. Dystonia treatment: patterns of medication use in an international cohort. Neurology. 2017; 88: 543-550. PMCID: PMCID: 5304465
  60. Sedov A, Popov V, Shabalov V et al. Physiology of midbrain head movement neurons in cervical dystonia. Mov Disord. 2017; 32: 904-912. PMCID: PMC5466497.
  61. Norris SA, Jinnah HA, Espay AJ et al. Clinical and demographic characteristics related to onset site and spread of cervical dystonia. Mov Disord. 2016; 31: 1874-1882. PMCID: PMC5154862.
  62. Peterson D, Littlewort G, Bartlett M et al. Objective, computerized, video-based rating of blepharospasm severity. Neurology. 2016; 87: 2146-2153. PMCID: PMC5109937.
  63. Bologna M, Paparella G, Fabbrini A et al. Effects of cerebellar theta-burst stimulation on arm and neck movement kinematics in patients with focal dystonia. Clin Neurophysiol. 2016; 127: 3472-3479. PMCID: PMC5098212.
  64. Bäumer T, Schmidt A, Heldmann M et al. Abnormal interhemispheric inhibition in musician’s dystonia – trait or state? Parkinsononism Relat Disord. 2016; 25: 33-8. PMCID: PMC6149539.
  65. Paudel R, Li A, Hardy J et al. DYT6 dystonia: A neuropathological study. Neurodegener Dis. 2016; 16: 273-8. PMCID: PMC8325067
  66. Jinnah HA, Goodmann E, Rosen AR et al. Botulinum toxin treatment failures in cervical dystonia: causes, management, and outcomes. J Neurol. 2016; 263: 1188-94. PMCID: PMC4904718.
  67. Merkel PA, Manion M, Gopal-Srivastava R et al. Rare Diseases Clinical Research Network. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis. 2016; 11: 66. PMCID: PMC4870759.  [Publication from an RDCRN-wide study of patient advocacy group engagement] 
  68. Xiao J, Thompson MM, Vemula SR et al. Belpharospasm in a multiplex African-American pedigree. J Neurol Sci. 2016; 362: 299-303. PMCID: PMC4779500.
  69. Arkadir D, Radulescu A, Raymond D et al. DYT1 dystonia increases risk taking in humans. eLife 2016;10.7554. PMCID: PMC4951192.
  70. LeDoux MS, Vemula SR, Xiao J et al. Clinical and genetic features of cervical dystonia in a large multicenter cohort. Neurol Genet. 2016; 2: e69. PMCID: PMC4830199.
  71. Justicz N, Hapner E, Josephs JS et al. Comparative effectiveness of propranolol and botulinum for the treatment of essential voice tremor. Laryngoscope. 2016; 126: 113-7. PMCID: PMC4868360. [Clinical trial]
  72. Comella CL, Perlmutter JS, Jinnah HA et al. Clinimetric testing of the comprehensive cervical dystonia rating scale (CCDRS). Mov Disord. 2016; 31: 563-9. PMCID: PMC4833533.
  73. Shaikh AG, Ghasia FF, DeLong MR et al. Ocular palatal tremor plus dystonia – new syndromic association.  Mov Disord Clin Pract. 2015; 2: 267-70. PMCID: PMC4753074.
  74. Shaikh AG, Mewes K, DeLong MR et al. Temporal profile of improvement in tardive dystonia after globus pallidus deep brain stimulation. Parkinsonism Relat Disord. 2015; 21: 116-9. PMCID: PMC4879955.
  75. Shaikh AG, Zee DS, Jinnah HA. Oscillatory head movements in cervical dystonia: Dystonia, tremor, or both? Mov Disord. 2015; 30: 834-42. PMCID: PMC4868362.
  76. Shaikh AG, Wong A, Zee DS et al. Why are voluntary head movements in cervical dystonia slow? Parkinsonism Relat Disord. 2015; 21: 561-6. PMCID: PMC4441827.
  77. Pirio Richardson S, Tinaz S, Chen R. Repetitive transcranial magnetic stimulation in cervical dystonia:  effect of site and repetition in a randomized pilot trial. PLoS One. 2015; 10: e0124937. PMCID: PMC4414555.
  78. Schottlaender LV, Polke JM, Ling H et al. Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiol Aging. 2015; 36: 1221. e1-6. PMCID: PMC4321829.
  79. Kimberley TJ, Schmidt RL, Chen M et al. Mixed effectiveness of rTMS and retraining in the treatment of focal hand dystonia. Front Hum Neurosci. 2015; 9: 385. PMCID: PMC4496570.
  80. Comella C, Fox S, Bhatia K, et al. Development of the comprehensive cervical dystonia rating scale: methodology. Mov Disord Clin Pract. 2015; 2: 135-41. PMCID: PMC4827152.
  81. Brüggemann N, Kühn A, Schneider SA, et al. Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. Neurology. 2015; 84: 895-903. PMCID: PMC6170184.
  82. Prudente CN, Stilla R, Buetefisch CM et al. Neural substrates for head movements in humans: a functional magnetic resonance imaging study. J Neurosci. 2015; 35: 9163-72. PMCID: PMC4469741.
  83. Creighton Jr FX, Hapner E, Klein A et al. Diagnostic delays in spasmodic dysphonia: A call for clinician education. J Voice. 2015; 29: 592-4. PMCID: PMC4868351.
  84. DeFazio G, Hallett M, Jinnah HA et al. Development and validation of a clinical scale for rating the severity of blepharospasm. Mov Disord. 2015; 30: 525-30. PMCID: PMC4878674.
  85. Yan L, Hicks M, Winslow K et al. Secured web-based video repository for multicenter studies. Parkinsonism Relat Disord.  2015; 21: 366-71. PMCID: PMC4372455.
  86. Revuelta GJ, Montilla J, Benatar M et al. An ¹⁸F-FDG PET study of cervical muscle in parkinsonian anterocollis. J Neurol Sci. 2014; 340: 174-7. PMCID: PMC4305331.
  87. Paudel R, Kiely A, Li A et al. Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. Acta Neuropathol Commun. 2014; 2: 159. PMCID: PMC4247124.
  88. Shaikh AG, Mewes K, Jinnah HA et al. Globus pallidus deep brain stimulation for adult-onset axial dystonia. Parkinsonism Relat Disord. 2014; 20: 1279-1282. PMCID: PMC4879957.
  89. Luciano AY, Jinnah HA, Pfeiffer RF et al. Treatment of myoclonus-dystonia syndrome with tetrabenazine. Parkinsonism Relat Disord. 2014, 20: 1423-6. PMCID: PMC4254189.  [Clinical Trial]
  90. Göttle M, Prudente CN, Fu R et al. Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease. Ann Neurol. 2014; 76: 95-107. PMCID: PMC4827147.
  91. Broccard FD, Mullen T, Chi YM et al. Closed-loop brain-machine-body interfaces for noninvasive rehabilitation of movement disorders. Ann Biomed Eng. 2014; 42: 1573-93. PMCID: PMC4099421.
  92. Patel N, Hanfelt J, Marsh L et al. Alleviating maneuvers (sensory tricks) in cervical dystonia. J Neurol Neurosurg Psychiatry. 2014; 85: 882-4. PMCID: PMC4871143.
  93. Vemula SR, Xiao J, Zhao Y et al. A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia. Mol Genet Genomic Med. 2014; 261-72. PMCID: PMC4049367.
  94. Vemula SR, Xiao J, Bastian WR et al. Pathogenic Variants in TUBB4A are not found in primary dystonia. Neurology. 2014; 82: 1227-30. PMCID: PMC4001202.
  95. Ceballos-Picot I, Auge F, Fu R et al. Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase. Mol Genet Metab. 2013;110: 268-74. PMCID: PMC3830450.
  96. Tiderington E, Goodman EM, Rosen AR et al. How long does it take to diagnose cervical dystonia? J Neurol Sci. 2013; 335: 72-74. PMCID: PMC3840082.
  97. Moscovich M, LeDoux MS, Xiao J et al. Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report. BMC Med Genet. 2013; 14: 70. PMCID: PMC3722009.
  98. Defazio G, Hallett M, Jinnah HA et al. Development and validation of a clinical guideline for diagnosing blepharospasm. Neurology. 2013; 81: 236-40. PMCID: PMC3770163.
  99. Hubsch C, Roze E, Popa T et al. Defective cerebellar control of cortical plasticity in writer’s cramp. Brain. 2013; 136: 2050-62. PMCID: PMC3692031.
  100. Shaikh AG, Wong A, Zee DS e al. Keeping your head on target. J Neuroscience. 2013; 33: 11281-95. PMCID: PMC3718362.
  101. Khooshnoodi MA, Factor SA, Jinnah HA. Secondary blepharospasm associated with structural lesions of the brain. J Neurol Sci. 2013; 331: 98-101. PMCID: PMC3732185.
  102. Albanese A, Bhatia K, Bressman SB et al. Phenomenology and classification of dystonia: A consensus update. Mov Disord. 2013; 28: 863-73. PMCID: PMC3729880. [International consensus statement regarding the definition and classification of all dystonias, cited 1201 times by June 2020]
  103. Popa T, Velayudhan B, Hubsch C et al. Cerebellar processing of sensory inputs primes motor cortex plasticity. Cereb Cortex. 2013; 23: 305-14.   PMCID: PMC3539453.
  104. Prudente CN, Pardo-Vilamizar CA, Xiao J et al. Neuropathology of cervical dystonia. Exp Neurol. 2013; 241: 95-104. PMCID: PMC3570661.
  105. Ushe M, Perlmutter JS. Oromandibular and lingual dystonia associated with spinocerebellar ataxia type 8. Mov Disord. 2012; 27: 1741-2. PMCID: PMC3539208.
  106. Revuelta GJ, Benatar M, Freeman A et al. Clinical subtypes of anterocollis in parkinsonian syndromes. J Neurol Sci. 2012; 315: 100-3. PMCID: PMC3495550.
  107. Hedera P, Xiao J, Puschmann A et al. Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.  BMC Neurol. 2012; 12: 93. PMCID: PMC3460747.
  108. Fleming BM, Schwab EL, Nouer SS et al. Prevalence, predictors, and perceived effectiveness of complementary, alternative and integrative medicine in adult-onset primary dystonia. Parkinsonism Relat Disord. 2012; 18: 936-40. PMCID: PMC3430825.
  109. LeDoux MS, Xiao J, Rudzińska M et al. Genotype-phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases. Parkinsonism Relat Disord. 2012; 18: 414-25. PMCID: PMC3358360.
  110. Xiao J, Uitti RJ, Zhao Y et al. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol. 2012; 71: 458-69. PMCID: PMC3334472.  [First gene found for the most common subtype of dystonia]
  111. White LJ, Hapner ER, Klein AM et al.  Co-Prevalence of anxiety and depression with spasmodic dysphonia: A case-control study. J Voice. 2012; 26: 667e1-6. PMCID: PMC3495551.
  112. Shamim EA, Chu J, Scheider LH et al. Extreme task specificity in writer's cramp. Mov Disord. 2011; 26: 2107-9. PMCID: PMC3417074. grant # is listed incorrectly as 067501.
  113. Puschmann A, Xiao J, Bastian RW et al. An African-American family with dystonia. Parkinsonism Relat Disord. 2011; 17: 547-50. PMCID: PMC3137742.
  114. White LJ, Hapner ER, Klein AM et al. Co-prevalence of tremor with spasmodic dysphonia: A case-control Study. Laryngoscope. 2011; 121: 1752-5. PMCID: PMC3146022.
  115. Xiao J, Zhao Y, Bastian RW, Perlmutter JS et al. The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia. Mov Disord. 2011; 26: 549-52. PMCID: PMC3171986.
  116. Xiao J, Zhao Y, Bastian RW et al. Novel THAP1 sequence variants in primary dystonia. Neurology. 2010; 74: 229-38. PMCID: PMC2809032.

Reviews, commentaries, chapters and letters

  1. Kilic-Berkmen G, Wright LJ, Perlmutter JS et al. The Dystonia Coalition: A Multicenter Network for Clinical and Translational Studies. Front Neurol. 2021. 8;12:660909. doi: 10.3389/fneur.2021.660909. PMCID: PMC8060489. [Review]
  2. Jinnah HA. Medical and Surgical Treatments for Dystonia. Neurol Clin. 2020; 38: 325-348. PMCID: PMC7156436. [Review]
  3. Jinnah HA. The Dystonias. Continuum (Minneap Minn). 2019; 25: 976-1000. [Review]
  4. Jinnah HA, Albanese A, Bhatia KP ET AL. International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders. Treatable inherited rare movement disorders. Mov Disord. 2018; 33: 21-35. PMCID: PMC5921079. [Review; won award from publisher for most downloaded articles in 2018] 
  5. George EB, Cotton AC, Shneyder et al. A strategy for managing flu-like symptoms after botulinum toxin injections. J Neurol. 2018; 265: 1932-1933. [Letter]
  6. Jinnah HA, Hess EJ. Evolving concepts in the pathogenesis of dystonia. Parkinsonism Relat Disord. 2018; 46. PMCID: PMC5696051. [Invited Review]
  7. Jinnah HA, Hess EJ. The motor network model for dystonia. In Treatment of dystonia. Cambridge University Press. 1st Edition, 2018. [Book chapter]
  8. Shaikh AG, Zee DS. Eye movement research in the twenty-first century-a window to the brain, mind, and more. Cerebellum. 2018; 17: 252-258. [Review] 
  9. Norris SA, Perlmutter JS. Functional imaging in dystonia. In Treatment of Dystonia, ed Dressler, Altenmuller, & Krauss, Cambridge University Press, Cambridge, UK, June 2018, ISBN: 9781107132863. [Chapter]
  10. Jinnah HA, Neychev V, Hess EJ. The anatomical basis for dystonia: The motor network model. Tremor Other Hyperkinet Mov (N Y). 2017; 7: 506. PMCID: PMC5673689. [Invited Review]
  11. Peterson DA, Sejnowski TJ. A Dynamic circuit hypothesis for the pathogenesis of blepharospasm. Front Comput Neurosci. 2017; 11: 11. PMCID: PMC5340098 [Review]
  12. Pirio Richardson S, Altenmuller E, Alter K et al. Research priorities in limb and task-specific dystonias. Front Neurol. 2017; 8: 170. PMCID: PMC5413505. [Consensus statement]
  13. Jinnah HA, Alterman R, Klein C et al. Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing. J Neural Transm. 2017;124(4): 417-430. PMCID: PMC5357445. [Invited review]
  14. Defazio G, Hallett M, Jinnah HA et al. Blepharospasm 40 years later. Mov Disord. 2017; 32: 498-509. PMCID: PMC5941939. [Review]
  15. Shaikh AG, Zee DS, Crawford JD et al. Reply: Contributions of visual and motor signals in cervical dystonia. Brain. 2017; 140: e5. [Letter]
  16. Puri S, Shaikh AG. Basic and translational neuro-ophthalmology of visually guided saccades: disorders of velocity. Expert Rev Ophthalmol. 2017; 12: 457–473. PMCID: PMC6377082. [Review]
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  19. Peterson DA, Sejnowski TJ. A Dynamic circuit hypothesis for the pathogenesis of blepharospasm. Front Comput Neurosci. 2017; 11: 11. PMCID: PMC5340098. [Hypothesis]
  20. Jinnah HA. Locus Pocus. Mov Disord. 2016; 31: 1759-1760. PMCID: PMC5115966. [Letter]
  21. Jinnah HA, Factor S. The role of polymyography in the treatment of cervical dystonia: the authors reply. J Neurol. 2016; 263: 1665. PMCID: PMC4972652. [Letter]
  22. Shaikh AG, Zee DS, Crawford JD et al. Cervical dystonia: a neural integrator disorder. Brain. 2016; 139: 2590-2599. Epub 2016 Jun 20. PMCID: PMC5840887. [Review]
  23. Fraint A, Vittal P, Comella C. Considerations on patient-related outcomes with the use of botulinum toxins: is switching products safe? Ther Clin Risk Manag. 2016; 12: 147-54. PMCID: PMC4751901. [Review]
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  25. Karimi MK, Perlmutter JS. The role of dopamine and dopaminergic pathways in dystonia: insights from neuroimaging.  Tremor and Other Hyperkinetic Movements.  2015; 5: 280. PMCID: PMC4314610. [Invited review]
  26. Ludlow CL. Central nervous system control of voice and swallowing. J Clin Neurophysiol. 2015; 32: 294-303. PMCID: PMC4526113. [Review]
  27. Ludlow CL. Laryngeal Reflexes: Physiology, technique, and clinical use. J Clin Neurophysiol. 2015; 32: 284-93. PMCID: PMC4527097. [Review]
  28. Jinnah HA, Teller JK, Galpern WR. Recent developments in dystonia. Curr Opin Neurol. 2015; 28: 400-5. PMCID: PMC4539941. [Review]
  29. Jinnah HA, Prudente CN, Rose SJ et al. The neurobiology of dystonia. In Neurobiology of Disease, 2nd Ed, 2015. [Chapter]
  30. Jinnah HA, Hess, EJ.  Assessment of movement disorders in mice.  Chapter 4 in Movement Disorders: Genetics and Models, LeDoux MS, Ed. Elsevier Academic Press, Amsterdam, 2015. [Book chapter]
  31. Berman BD and Jinnah HA.  Dystonia: Five new things.  Neurology Clinical Practice. 2015; 5: 232-240.  PMCID: PMCID: 4469349. [Invited review]
  32. Tanner CM, Comella CL. When brawn benefits brain: physical activity and Parkinson's disease risk. Brain. 2015; 138: 238-9. PMCID: PMC4394643. [Commentary]
  33. Jinnah HA, Factor SA. Diagnosis and treatment of dystonia. Neurol Clin. 2015; 33: 77-100. PMCID: PMC4248237. [Review]
  34. Hershey LA, Perlmutter JS.  Smoking and Parkinson’s disease: where there is smoke there may not be fire.  Neurology. 2014; 83: 1392-3. [Editorial]
  35. Perlmutter JS, Norris S.  Neuroimaging biomarkers for Parkinson disease: facts & fantasy.  Ann Neurol. 2014; 76: 769-83. PMCID: PMC4245400. [Invited Grand Rounds]
  36. Jinnah HA, Albanese A. The new classification for the dystonias: Why was it needed and how was it developed? Mov Disord Clin Pract. 2014; 1: 280-284. PMCID: PMC4254809. [Editorial]
  37. Jinnah HA, Albanese A. New concepts for dystonia. Moving Along: The Official Newsletter of the International Parkinson and Movement Disorder Society. 2014; 18: 6-7. [Feature article]
  38. Xiao J, Vemula SR, LeDoux MS. Recent advances in the genetics of dystonia. Curr Neurol Neurosci Rep. 2014; 14: 462. PMCID: PMC4886715. [Review]
  39. Fregosi RF, Ludlow CL. Activation of upper airway muscles during breathing and swallowing. J Appl Physiol. 2014; 116: 291-301. PMCID: PMC3921357. [Review]
  40. Prudente CN, Hess EJ, Jinnah HA. Dystonia as a network disorder:  What is the role of the cerebellum?  Neuroscience. 2014; 260: 23-35. PMCID: PMC3928686. [Review]
  41. Albanese A, Bhatia K, Bressman SB et al. Dystonia after severe head injuries. Mov Disord. 2014; 578-9. [Letter]
  42. Comella CL. Treatment of restless legs syndrome. Neurotherapeutics. 2014;11: 177-87. PMCID: PMC3899490. [Review]
  43. Klein C, Fahn S. Translation of Oppenheim's 1911 paper on dystonia. Mov Disord. 2013; 28: 851-862. PMCID: In Progress. [Translation from German]
  44. Lohmann K, Klein C. Genetics of dystonia: What's known? What's new? What's next? Mov Disord. 2013; 28: 899-905. [Invited Review]
  45. Marsh L. Depression and Parkinson’s disease: current knowledge. Curr Neurol Neurosci Rep. 2013; 13: 409. PMC Journal-In Process. [Review]
  46. Mink JW. Special concerns in defining, studying, and treating dystonia in children. Mov Disord. 2013; 28: 921-5. PMCID: PMC3806453. [Review]
  47. Galpern WR, Coffey CS, Albanese A et al. Designing clinical trials for dystonia. Neurotherapeutics. 2014; 11: 117-27. [Review]
  48. Peterson DA, Berque P, Jabusch HC et al. Rating scales for musician’s dystonia:  The state of the art. Neurology. 2013; 81: 59-98. PMCID: PMC3775681. [Review]
  49. Fung VS, Jinnah HA, Bhatia K et al. Assessment of patients with isolated or combined dystonia: An update on dystonia syndromes. Mov Disord. 2013; 18: 889-98. PMCID: PMC4216675. [Review]
  50. Jinnah HA, Delong MR, Hallett M. The dystonias: Past, present, and future. Mov Disord. 2013; 28: 849-50. PMC3787865. [Editorial]
  51. Jinnah HA, Berardelli A, Comella C et al. The focal dystonias: Current views and challenges for future research. Mov Disord. 2013; 28: 926-43. PMCID: PMC3733486. [Review]
  52. Albanese A, Del Sorbo F, Comella C et al. Dystonia rating scales: Critique and recommendations. Mov Disord. 2013; 28: 874-83. PMCID: PMC4207366. [Review]
  53. Zurowski M, McDonald WM, Fox S et al. Psychiatric comorbidities in dystonia: Emerging concepts. Mov Disord. 2013; 28: 914-20. PMCID: PMC3842100.  [Review]
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  55. LeDoux MS. Dystonia: phenomenology. Parkinsonism Relat Disord. 2012; 18 Suppl 1: S162-4. PMCID: PMC4869992. [Review]
  56. Thompson VB, Jinnah HA, Hess EJ. Convergent mechanisms in etiologically-diverse dystonias. Expert Opin Ther Targets. 2011; 15: 1387-403. PMC3514401. grant # is listed incorrectly as 067501. [Review]
  57. LeDoux MS. Animal models of dystonia: Lessons from a mutant rat. Neurobiol Dis. 2011; 42: 152-61. PMCID: PMC3171987. [Review]
  58. Neychev VK, Gross RE, Lehéricy S et al. The functional neuroanatomy of dystonia. Neurobiol Dis. 2011; 42: 185-201. PMCID: PMC3478782. [Review]
  59. Jinnah HA and Hallett M.  In the wink of an eye: nature and nuture in blepharospasm.  Neurology 77: 616-617, 2011. [Editorial]
  60. Jinnah HA. Needles in haystacks:  The challenges of rare diseases.  Dev Med Child Neurol.  2011; 53: 6-7.  PMCID: PMC3059553. [Editorial about rare diseases research]
  61. Ludlow, CL.  Spasmodic dysphonia: A laryngeal control disorder specific to speech. J Neuroscience 2011; 31: 793-7. PMCID: PMC4940852. [Review]
  62. Cloud LJ, Jinnah HA. Treatment strategies for dystonia. Expert Opin Pharmacother. 2010; 11: 5-15. PMCID: PMC3495548. [Review]
  63. Hess EJ, Jen JC, Jinnah HA.  Neuronal voltage-gated calcuim channels: Brief overview of their function and clinical implications. Neurology. 2010; 75: 937. [Letter by investigators from two different consortia, the DC and CINCH]
  64. Hess EJ, Jinnah HA.  Rodent models of dystonia.  In Animal models for movement disorders, LeDoux MS, Ed. Elsevier Academic Press, Amsterdam, 2005. [Book chapter]