Publications

  1. Charvet L, O'Donnell E, Belman A, Chitnis T, Ness J, Parrish J, Patterson M, Rodriguez M, Waubant E, Weinstock-Guttman B, Krupp L, on behalf of the US Network of Pediatric MS Centers. Longitudinal evaluation of cognitive functioning in pediatric multiple sclerosis: report from the US Pediatric Multiple Sclerosis Network. Mult Scler. 2014 Oct; 20(11):1502-10. Epub 2014 Mar 31
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  2. Charvet LE, O'Donnell EH, Belman AL, Chitnis T, Ness JM, Parrish J, Patterson M, Rodriguez M, Waubant E, Weinstock-Guttman B, Krupp LB, US Network of Pediatric MS Centers. Longitudinal evaluation of cognitive functioning in pediatric multiple sclerosis: report from the US Pediatric Multiple Sclerosis Network. Mult Scler. 2014 Oct; 20(11):1502-10. Epub 2014 Mar 31.
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  3. Kenney D, Wickremasinghe AC, Ameenuddin N, Patterson MC. A 19-month-old girl of South Indian parents presented to a general pediatric clinic for evaluation of global developmental regression. Semin Pediatr Neurol. 2014 Jun; 21(2):88-9. Epub 2014 Apr 13
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  4. Qubty WF, Mrelashvili A, Patterson MC. Epidural Hematoma in a Patient on Pegylated-L-Asparginase Therapy. J Child Neurol. 2014 Jan 05.
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  5. Wraith JE, Sedel F, Pineda M, Wijburg FA, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Chadha-Boreham H, Kolb SA. Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations. J Inherit Metab Dis. 2014 Jan; 37(1):93-101. Epub 2013 Jun 21
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  6. Casper TC, Rose JW, Roalstad S, Waubant E, Aaen G, Belman A, Chitnis T, Gorman M, Krupp L, Lotze TE, Ness J, Patterson MC, Rodriguez M, Weinstock-Guttman B, Browning B, Graves J, Tillema J-M, Benson L, Harris Y, the US Network of Pediatric Multiple Sclero The US Network of Pediatric Multiple Sclerosis Centers: Development, Progress, and Next Steps. J Child Neurol. 2014. Epub 2014 Sep 30
  7. Bauer P, Balding DJ, Klunemann HH, Linden DE, Ory DS, Pineda M, Priller J, Sedel F, Muller A, Chadha-Boreham H, Welford RW, Strasser DS, Patterson MC. Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Hum Mol Genet. 2013 Nov 1; 22(21):4349-56. Epub 2013 Jun 16.
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  8. Patterson M. Niemann-Pick Disease Type C. GeneReviews™ [Internet] Seattle (WA) University of Washington, Seattle 1993-2013 Available from: http://wwwncbinlmnihgov/books/NBK1296/. [Updated 2013 Jul 18]. Epub 2013 Jul 18
  9. Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ, University of Washington Center for Mendelian Genomics, Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet. 2013 Apr 4; 92(4):632-6.
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  10. Baruth JM, Wall CA, Patterson MC, Port JD. Proton magnetic resonance spectroscopy as a probe into the pathophysiology of autism spectrum disorders (ASD): a review. Autism Res. 2013 Apr; 6(2):119-33. Epub 2013 Feb 21.
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  11. Gilbert DL, Patterson MC, Pugh JA, Ridel KR, Reynolds TQ, Valencia I. Views of recently first-certified US child neurologists on their residency training. J Child Neurol. 2013 Mar; 28(3):332-9. Epub 2013 Jan 28.
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  12. Loar RW, Patterson MC, O'Leary PW, Driscoll DJ, Johnson JN. Posterior reversible encephalopathy syndrome and hemorrhage associated with tacrolimus in a pediatric heart transplantation recipient. Pediatr Transplant. 2013 Mar; 17(2):E67-70. Epub 2013 Jan 17.
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  13. Julian L, Serafin D, Charvet L, Ackerson J, Benedict R, Braaten E, Brown T, O'Donnell E, Parrish J, Preston T, Zaccariello M, Belman A, Chitnis T, Gorman M, Ness J, Patterson M, Rodriguez M, Waubant E, Weinstock-Guttman B, Yeh A, Krupp LB, Network of Cognitive impairment occurs in children and adolescents with multiple sclerosis: results from a United States network. J Child Neurol. 2013 Jan; 28(1):102-7. Epub 2012 Nov 15.
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  14. Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, Vanier MT, Pineda M. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013; 8:12. Epub 2013 Jan 16.
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  15. Patterson MC. Gangliosidoses. Handb Clin Neurol. 2013; 113:1707-8.
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  16. Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, Vanier MT, Pineda M. Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013; 8:73. Epub 2013 May 14.
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  17. Vanderver A, Tonduti D, Auerbach S, Schmidt JL, Parikh S, Gowans GC, Jackson KE, Brock PL, Patterson M, Nehrebecky M, Godfrey R, Zein WM, Gahl W, Toro C. Neurotransmitter abnormalities and response to supplementation in SPG11. Mol Genet Metab. 2012 Sep; 107(1-2):229-33. Epub 2012 Jun 01.
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  18. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F, NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012 Jul; 106(3):330-44. Epub 2012 May 08.
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  19. Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Wraith JE, Kolb SA. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology. 2012 May 15; 78(20):1560-7. Epub 2012 Apr 18.
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  20. Coon EA, Patterson MC. Teaching neuroimages: call it as you see it: evolution of bilateral striatal necrosis. Neurology. 2012 May 8; 78(19):e123.
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  21. Freeze HH, Eklund EA, Ng BG, Patterson MC. Neurology of inherited glycosylation disorders. Lancet Neurol. 2012 May; 11(5):453-66.
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  22. Dhamija R, Patterson MC, Wirrell EC. Epilepsy in children--when should we think neurometabolic disease? J Child Neurol. 2012 May; 27(5):663-71. Epub 2012 Feb 28.
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  23. Walterfang M, Chien YH, Imrie J, Rushton D, Schubiger D, Patterson MC. Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet J Rare Dis. 2012; 7:76. Epub 2012 Oct 06.
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  24. Paciorkowski AR, Shafrir Y, Hrivnak J, Patterson MC, Tennison MB, Clark HB, Gomez CM. Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms. Neurology. 2011 Sep 13; 77(11):1055-60. Epub 2011 Aug 31.
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  25. Patterson MC. Inborn errors of metabolism for child neurology residents. Semin Pediatr Neurol. 2011 Jun; 18(2):95-7.
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  26. Goez HR, Jacob FD, Fealey RD, Patterson MC, Ramaswamy V, Persad R, Johnson ES, Yager JY. An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C. J Child Neurol. 2011 Apr; 26(4):518-21. Epub 2011 Jan 27.
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  27. Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, Griebel DJ, Kaler SG, Mink JW, Shapiro EG, Bjoraker KJ, Krivitzky L, Provenzale JM, Gropman A, Orchard P, Raymond G, Cohen BH, Steiner RD, Goldkind SF, Nelson RM, Kakkis E, Patterson MC. Research challenges in central nervous system manifestations of inborn errors of metabolism. Mol Genet Metab. 2011 Mar; 102(3):326-38. Epub 2010 Dec 02.
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  28. Wong-Kisiel LC, Ji T, Renaud DL, Kotagal S, Patterson MC, Dalmau J, Mack KJ. Response to immunotherapy in a 20-month-old boy with anti-NMDA receptor encephalitis. Neurology. 2010 May 11; 74(19):1550-1.
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  29. Wraith JE, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, Giorgino R, Patterson MC. Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial. Mol Genet Metab. 2010 Apr; 99(4):351-7. Epub 2009 Dec 31.
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  30. Patterson MC, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, Giorgino R, Wraith JE. Long-term miglustat therapy in children with Niemann-Pick disease type C. J Child Neurol. 2010 Mar; 25(3):300-5. Epub 2009 Oct 12.
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  31. Yanjanin NM, Velez JI, Gropman A, King K, Bianconi SE, Conley SK, Brewer CC, Solomon B, Pavan WJ, Arcos-Burgos M, Patterson MC, Porter FD. Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5; 153B(1):132-40.
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  32. Lehman VT, Patterson MC, Babovic-Vuksanovic D, Rydberg C. Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome. Am J Med Genet A. 2009 Dec; 149A(12):2824-7.
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  33. Laszlo A, Voros E, Buga K, Horvath K, Mayer P, Osztovics M, Pavics L, Svekus A, Patterson MC. Myelination disturbance in a patient with hyperuricemia and hyperserotoninemia combined with 18q deletion syndrome. Ideggyogy Sz. 2009 Nov 30; 62(11-12):413-7.
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  34. Pineda M, Wraith JE, Mengel E, Sedel F, Hwu WL, Rohrbach M, Bembi B, Walterfang M, Korenke GC, Marquardt T, Luzy C, Giorgino R, Patterson MC. Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab. 2009 Nov; 98(3):243-9. Epub 2009 Aug 04.
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  35. Hsu AW, Piboolnurak PA, Floyd AG, Yu QP, Wraith JE, Patterson MC, Pullman SL. Spiral analysis in Niemann-Pick disease type C. Mov Disord. 2009 Oct 15; 24(13):1984-90.
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  36. Akman CI, Montenegro MA, Jacob S, Eck K, McBrian D, Chiriboga CA, Patterson MC. Subclinical seizures in children diagnosed with localization-related epilepsy: clinical and EEG characteristics. Epilepsy Behav. 2009 Sep; 16(1):86-98.
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  37. NP-C Guidelines Working Group, Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, Pineda M, Sedel F, Topcu M, Vanier MT, Widner H, Wijburg FA, Patterson MC. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab. 2009 Sep-Oct; 98(1-2):152-65. Epub 2009 Jun 14.
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  38. Akman CI, Patterson MC, Rubinstein A, Herzog R. Limbic encephalitis associated with anti-GAD antibody and common variable immune deficiency. Dev Med Child Neurol. 2009 Jul; 51(7):563-7. Epub 2009 Feb 03.
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  39. Duffner PK, Caviness VS Jr, Erbe RW, Patterson MC, Schultz KR, Wenger DA, Whitley C. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med. 2009 Jun; 11(6):450-4.
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  40. Miller BS, Khosravi MJ, Patterson MC, Conover CA. IGF system in children with congenital disorders of glycosylation. Clin Endocrinol (Oxf). 2009 Jun; 70(6):892-7. Epub 2009 Jan 22.
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  41. Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol. 2009 Apr; 40(4):245-52; discussion 253-5.
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  42. Patterson MC. Niemann-Pick disease type C -- the challenge of diagnosis and treatment. European Pediatrics. 2009; 3(1):10-3.
  43. Çoku J, Shanske S, Mehrazina M, Tanjib K, Patterson MC, Hirano M, DiMauro S. Slowly Progressive Multisystem Disorder Associated With a Mutation in the mtDNA tRNA (LeuCUN) Gene. Journal of Neurology. 2009 Epub 2009 Dec 22.
  44. Montenegro MA, Eck K, Jacob S, Cappell J, Chriboga C, Emerson R, Patterson MC, Akman CI. Long-term outcome of symptomatic infantile spasms established by video-electroencephalography (EEG) monitoring. J Child Neurol. 2008 Nov; 23(11):1288-92.
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  45. van der Knaap MS, Arts WF, Garbern JY, Hedlund G, Winkler F, Barbosa C, King MD, Bjornstad A, Hussain N, Beyer MK, Gomez C, Patterson MC, Grattan-Smith P, Timmons M, van der Valk P. Cerebellar leukoencephalopathy: most likely histiocytosis-related. Neurology. 2008 Oct 21; 71(17):1361-7.
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  46. Montenegro MA, Sproule D, Mandel A, Cappell J, Chiriboga CA, Jacob S, Eck K, Patterson MC, Akman CI. The frequency of non-epileptic spells in children: results of video-EEG monitoring in a tertiary care center. Seizure. 2008 Oct; 17(7):583-7. Epub 2008 May 01.
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  47. Noble JM, Patterson MC. Vitamin C deficiency. Epocrates Online. 2008:632.
  48. Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007 Sep; 6(9):765-72.
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  49. Floyd AG, Yu QP, Piboolnurak P, Wraith E, Patterson MC, Pullman SL. Kinematic analysis of motor dysfunction in Niemann-Pick type C. Clin Neurophysiol. 2007 May; 118(5):1010-8. Epub 2007 Feb 27.
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  50. Noble JM, Mandel A, Patterson MC. Scurvy and rickets masked by chronic neurologic illness: revisiting "psychologic malnutrition". Pediatrics. 2007 Mar; 119(3):e783-90.
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  51. Mellinger JF, Patterson MC. In memoriam: Manuel Rodriguez Gomez, MD July 4, 1928 - January 21, 2006. Pediatr Neurol. 2006 Jul; 35(1):47-8.
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  52. ACMG Work Group on Management of Pompe Disease, Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Pompe disease diagnosis and management guideline. Genet Med. 2006 May; 8(5):267-88.
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  53. Patterson MC. Metabolic mimics: the disorders of N-linked glycosylation. Semin Pediatr Neurol. 2005 Sep; 12(3):144-51.
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  54. Patterson MC, Platt F. Therapy of Niemann-Pick disease, type C. Biochim Biophys Acta. 2004 Oct 11; 1685(1-3):77-82.
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  55. Sturley SL, Patterson MC, Balch W, Liscum L. The pathophysiology and mechanisms of NP-C disease. Biochim Biophys Acta. 2004 Oct 11; 1685(1-3):83-7.
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  56. Kulikova-Schupak R, Knupp KG, Pascual JM, Chin SS, Kairam R, Patterson MC. Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease. J Child Neurol. 2004 Jan; 19(1):59-62.
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  57. Patterson MC. Niemann-Pick disease, type C. Gene Reviews at Gene Tests: Medical Genetics Information Resource. www.geneclinics.org [database online]. 2003 Dec 18.
  58. Patterson MC. A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C. Neurologist. 2003 Nov; 9(6):301-10.
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  59. Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat. 2003 Oct; 22(4):313-25.
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  60. Pirko I, Kuntz NL, Patterson M, Keegan BM, Weinshenker BG, Rodriguez M. Contrasting effects of IFNbeta and IVIG in children with central and peripheral demyelination. Neurology. 2003 May 27; 60(10):1697-9.
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  61. Mancuso M, Filosto M, Stevens JC, Patterson M, Shanske S, Krishna S, DiMauro S. Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene. J Neurol Sci. 2003 May 15; 209(1-2):61-3.
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  62. Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM, Snow K. Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Am J Med Genet. 2002 Jul 15; 110(4):338-45.
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  63. Patterson MC. Polyradiculoneuropathies. Gellis & Kagan's Current Pediatric Therapy. 2002; 418-20.
  64. Westphal V, Peterson S, Patterson M, Tournay A, Blumenthal A, Treacy EP, Freeze HH. Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia. Genet Med. 2001 Nov-Dec; 3(6):393-8.
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  65. Patterson M. Niemann-Pick disease, type C. Gene reviews at gene tests: medical genetics information resource. www.geneclinics.org [database online]. 2001 Sep 10.
  66. Sun X, Marks DL, Park WD, Wheatley CL, Puri V, O'Brien JF, Kraft DL, Lundquist PA, Patterson MC, Pagano RE, Snow K. Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. Am J Hum Genet. 2001 Jun; 68(6):1361-72. Epub 2001 May 09.
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  67. Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G. Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). Hum Mutat. 2000 Sep; 16(3):247-52.
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  68. Beran-Koehn MA, Zupanc ML, Patterson MC, Olk DG, Ahlskog JE. Violent recurrent ballism associated with infections in two children with static encephalopathy. Mov Disord. 2000 May; 15(3):570-4.
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  69. Patterson MC. Niemann-Pick disease, type C. Gene reviews at gene tests: medical genetics information resource. www.geneclinics.org [database online]. 2000 Jan 25.
  70. Kim S, Westphal V, Srikrishna G, Mehta DP, Peterson S, Filiano J, Karnes PS, Patterson MC, Freeze HH. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie). J Clin Invest. 2000 Jan; 105(2):191-8.
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  71. Babovic-Vuksanovic D, Patterson MC, Schwenk WF, O'Brien JF, Vockley J, Freeze HH, Mehta DP, Michels VV. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. J Pediatr. 1999 Dec; 135(6):775-81.
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  72. Patterson MC. Screening for "prelysosomal disorders": carbohydrate-deficient glycoprotein syndromes. J Child Neurol. 1999 Nov; 14 Suppl 1:S16-22.
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  73. Quiram PA, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG. Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. J Clin Invest. 1999 Nov; 104(10):1403-10.
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  74. Chen CS, Patterson MC, Wheatley CL, O'Brien JF, Pagano RE. Broad screening test for sphingolipid-storage diseases. Lancet. 1999 Sep 11; 354(9182):901-5.
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  75. Neufeld EB, Wastney M, Patel S, Suresh S, Cooney AM, Dwyer NK, Roff CF, Ohno K, Morris JA, Carstea ED, Incardona JP, Strauss JF 3rd, Vanier MT, Patterson MC, Brady RO, Pentchev PG, Blanchette-Mackie EJ. The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo. J Biol Chem. 1999 Apr 2; 274(14):9627-35.
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  76. Babovic-Vuksanovic D, Snow K, Patterson MC, Michels VV. Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. Am J Med Genet. 1998 Oct 12; 79(5):383-7.
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  77. Patterson MC. Headache evaluation: pitfalls to avoid. Audio-Digest Pediatrics. 1998; 44(8).
  78. Schiffmann R, Heyes MP, Aerts JM, Dambrosia JM, Patterson MC, DeGraba T, Parker CC, Zirzow GC, Oliver K, Tedeschi G, Brady RO, Barton NW. Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease. Ann Neurol. 1997 Oct; 42(4):613-21.
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  79. Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld Niemann-pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science. 1997 Jul 11; 277(5323):228-31.
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  80. Crifasi PA, Patterson MC, Bonde D, Michels VV. Severe Hajdu-Cheney syndrome with upper airway obstruction. Am J Med Genet. 1997 Jun 13; 70(3):261-6.
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  81. Rubin DI, Patterson MC, Westmoreland BF, Klass DW. Angelman's syndrome: clinical and electroencephalographic findings. Electroencephalogr Clin Neurophysiol. 1997 Apr; 102(4):299-302.
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  82. O'Marcaigh AS, Johnson CM, Smithson WA, Patterson MC, Widemann BC, Adamson PC, McManus MJ. Successful treatment of intrathecal methotrexate overdose by using ventriculolumbar perfusion and intrathecal instillation of carboxypeptidase G2. Mayo Clin Proc. 1996 Feb; 71(2):161-5.
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  83. Morita A, Meyer FB, Nichols DA, Patterson MC. Childhood dural arteriovenous fistulae of the posterior dural sinuses: three case reports and literature review. Neurosurgery. 1995 Dec; 37(6):1193-9; discussion 1199-200.
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  84. Rosenthal DI, Doppelt SH, Mankin HJ, Dambrosia JM, Xavier RJ, McKusick KA, Rosen BR, Baker J, Niklason LT, Hill SC, Miller SPF, Brady RO, Barton NW, Collaborators (Graham OC, Dobbin MG, Kaneski CR, Kreps CB, Oliver KL, Zirzow GC, Banerjee TK, Higgins JJ, Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics. 1995 Oct; 96(4 Pt 1):629-37.
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  85. Roff CF, Strauss JF 3rd, Goldin E, Jaffe H, Patterson MC, Agritellis GC, Hibbs AM, Garfield M, Brady RO, Pentchev PG. The murine Niemann-Pick type C lesion affects testosterone production. Endocrinology. 1993 Dec; 133(6):2913-23.
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  86. Patterson MC, Horowitz M, Abel RB, Currie JN, Yu KT, Kaneski C, Higgins JJ, O'Neill RR, Fedio P, Pikus A, et al. Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. Neurology. 1993 Oct; 43(10):1993-7.
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  87. Carstea ED, Polymeropoulos MH, Parker CC, Detera-Wadleigh SD, O'Neill RR, Patterson MC, Goldin E, Xiao H, Straub RE, Vanier MT, et al. Linkage of Niemann-Pick disease type C to human chromosome 18. Proc Natl Acad Sci U S A. 1993 Mar 1; 90(5):2002-4.
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  88. Patterson MC, Di Bisceglie AM, Higgins JJ, Abel RB, Schiffmann R, Parker CC, Argoff CE, Grewal RP, Yu K, Pentchev PG, et al. The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C. Neurology. 1993 Jan; 43(1):61-4.
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  89. Higgins JJ, Patterson MC, Dambrosia JM, Pikus AT, Pentchev PG, Sato S, Brady RO, Barton NW. A clinical staging classification for type C Niemann-Pick disease. Neurology. 1992 Dec; 42(12):2286-90.
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  90. Butler JD, Blanchette-Mackie J, Goldin E, O'Neill RR, Carstea G, Roff CF, Patterson MC, Patel S, Comly ME, Cooney A, et al. Progesterone blocks cholesterol translocation from lysosomes. J Biol Chem. 1992 Nov 25; 267(33):23797-805.
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  91. Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev PG, Barton NW. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). Neurology. 1992 Jan; 42(1):194-8.
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  92. Patterson MC, Gomez MR. Muscle disease in children: a practical approach. Pediatr Rev. 1990 Sep; 12(3):73-82.
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  93. Chalk JB, Patterson MC, Pender MP. An intracranial arteriovenous malformation and palatal myoclonus related to pseudoxanthoma elasticum. Aust N Z J Med. 1989 Apr; 19(2):141-3.
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  94. Patterson MC, Tomlinson FH, Stuart GG. Palinacousis: a case report. Neurosurgery. 1988 Jun; 22(6 Pt 1):1088-90.
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  95. Patterson MC. Potential to produce hepatotoxicity (Valproate). Curr Ther. 1987; 28(10):63-5.
  96. Brandon RA, Eadie MJ, Curran AC, Nolan PC, Presneill JJ, Patterson MC. A new formulation of aspirin: bioavailability and analgesic efficacy in migraine attacks. Cephalalgia. 1986 Mar; 6(1):19-27.
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  97. Chalk JB, Patterson M, Smith MT, Eadie MJ. Correlation between in vitro dissolution, in vivo bioavailability and hypoglycemic effect of oral glibenclamide. Eur J Clin Pharm. 1986; 31:175-82.
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  98. Dickinson RG, Kluck RM, Hooper WD, Patterson M, Chalk JB, Eadie MJ. Rearrangement of valproate glucuronide in a patient with drug-associated hepatobiliary and renal dysfunction. Epilepsia. 1985 Nov-Dec; 26(6):589-93.
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  99. Patterson MC, Bunce IH, Eadie MJ. Cerebral abscess in leukaemia: an unusual presentation of a rare complication. Clin Exp Neurol. 1985; 21:257-62.
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  100. Hooper WD, King AR, Patterson M, Dickinson RG, Eadie MJ. Simultaneous plasma carbamazepine and carbamazepine-epoxide concentrations in pharmacokinetic and bioavailability studies. Ther Drug Monit. 1985; 7(1):36-40.
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  101. Dickinson RG, Hooper WD, Patterson M, Eadie MJ, Maguire B. Extent of urinary excretion of p-hydroxyphenytoin in healthy subjects given phenytoin. Ther Drug Monit. 1985; 7(3):283-9.
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  102. Patterson M, Heazelwood R, Smithurst B, Eadie MJ. Plasma protein binding of phenytoin in the aged: in vivo studies. Br J Clin Pharmac. 1982; 13:423-5.
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