All Stories

  1. In Memoriam: Alan Aron, MD (October 15, 1933–December 26, 2017)*

    Article • Journal of Child Neurology, September 2018, SAGE Publications

    Professor Marc C Patterson

  2. In Memoriam

    Article • Journal of Child Neurology, October 2016, SAGE Publications

    Professor Marc C Patterson

  3. Acute Encephalopathy With Biphasic Seizures and Late Restricted Diffusion

    Article • Pediatric Neurology, February 2016, Elsevier

    Professor Marc C Patterson

  4. Expanding Phenotypic Spectrum of NKX2-1 –Related Disorders—Mitochondrial and Immunologic Dysfunction

    Article • JAMA Neurology, February 2016, American Medical Association (AMA)

    Professor Marc C Patterson

  5. Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay

    Article • Pediatric Neurology, February 2016, Elsevier

    Professor Marc C Patterson

  6. Too Old for a Diaper! A Child With Diaper Changing–Induced Seizures

    Article • Pediatric Neurology, January 2016, Elsevier

    Professor Marc C Patterson

  7. Peer review fraud—it’s not big and it’s not clever

    Article • Journal of Inherited Metabolic Disease, December 2015, Springer Science + Business Media

    Professor Marc C Patterson

  8. Quo vadis: the re-definition of “inborn metabolic diseases”

    Article • Journal of Inherited Metabolic Disease, September 2015, Springer Science + Business Media

    Professor Marc C Patterson

  9. Impaired glycosylation has widepsread effects on the nervous system

    Article • Annual Review of Neuroscience, July 2015, Annual Reviews

    Professor Marc C Patterson

  10. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

    Article • Orphanet Journal of Rare Diseases, May 2015, Springer Science + Business Media

    Professor Marc C Patterson

  11. Case definition and classification of leukodystrophies and leukoencephalopathies

    Article • Molecular Genetics and Metabolism, April 2015, Elsevier

    Dr Nicole I Wolf, Professor Marc C Patterson

  12. JIMD Reports, Volume 21

    Article • January 2015

    Professor Marc C Patterson

  13. JIMD Reports, Volume 20

    Article • January 2015

    Professor Marc C Patterson

  14. JIMD Reports, Volume 18

    Article • January 2015

    Professor Marc C Patterson

  15. JIMD Reports, Volume 22

    Article • January 2015

    Professor Marc C Patterson

  16. JIMD Reports, Volume 19

    Article • January 2015

    Professor Marc C Patterson

  17. JIMD Reports, Volume 23

    Article • January 2015

    Professor Marc C Patterson

  18. JIMD Reports, Volume 24

    Article • January 2015

    Professor Marc C Patterson

  19. Peripheral Neuropathy in Inherited Metabolic Disease

    Article • January 2015, Elsevier

    Professor Marc C Patterson

  20. Congenital Disorders of N-linked Glycosylation

    Article • January 2015, Elsevier

    Professor Marc C Patterson

  21. Substrate Deprivation Therapy

    Article • October 2014, Oxford University Press (OUP)

    Professor Marc C Patterson

  22. Editorial Comment: Ataxia, Ophthalmoplegia, and Impairment of Consciousness in a 19 Month-Old American Boy

    Article • Seminars in Pediatric Neurology, June 2014, Elsevier

    Professor Marc C Patterson

  23. Editorial Comment: Cerebellar Ataxia, Vertical Supranuclear Gaze Palsy, Sensorineural Deafness, Epilepsy, Dementia and Hallucinations in an Adolescent Male

    Article • Seminars in Pediatric Neurology, June 2014, Elsevier

    Professor Marc C Patterson

  24. A 19-Month-Old Girl of South Indian Parents Presented to a General Pediatric Clinic for Evaluation of Global Developmental Regression

    Article • Seminars in Pediatric Neurology, June 2014, Elsevier

    Professor Marc C Patterson

  25. Longitudinal study of cognition in Niemann-Pick disease type C

    Article • Molecular Genetics and Metabolism, February 2014, Elsevier

    Professor Marc C Patterson

  26. Longitudinal data from the international registry for Niemann-Pick disease type C (NPC)

    Article • Molecular Genetics and Metabolism, February 2014, Elsevier

    Professor Marc C Patterson

  27. Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

    Article • Journal of Inherited Metabolic Disease, June 2013, Springer Science + Business Media

    Professor Marc C Patterson

  28. Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

    Article • The American Journal of Human Genetics, April 2013, Elsevier

    Professor Marc C Patterson

  29. Proton Magnetic Resonance Spectroscopy as a Probe into the Pathophysiology of Autism Spectrum Disorders (ASD): A Review

    Article • Autism Research, February 2013, Wiley

    Professor Marc C Patterson

  30. Posterior reversible encephalopathy syndrome and hemorrhage associated with tacrolimus in a pediatric heart transplantation recipient

    Article • Pediatric Transplantation, January 2013, Wiley

    Professor Marc C Patterson

  31. Gangliosidoses

    Article • January 2013, Elsevier

    Professor Marc C Patterson

  32. Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry

    Article • Orphanet Journal of Rare Diseases, January 2013, Springer Science + Business Media

    Professor Marc C Patterson

  33. Disease and patient characteristics in NP-C patients: findings from an international disease registry

    Article • Orphanet Journal of Rare Diseases, January 2013, Springer Science + Business Media

    Professor Marc C Patterson

  34. Niemann-Pick Disease Type C

    Article • November 2012, Wiley

    Professor Marc C Patterson

  35. Neurotransmitter abnormalities and response to supplementation in SPG11

    Article • Molecular Genetics and Metabolism, September 2012, Elsevier

    Professor Marc C Patterson

  36. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

    Article • Molecular Genetics and Metabolism, July 2012, Elsevier

    Professor Marc C Patterson

  37. Neurology of inherited glycosylation disorders

    Article • The Lancet Neurology, May 2012, Elsevier

    Professor Marc C Patterson

  38. Longitudinal Study of Cognition in Patients with Niemann-Pick Disease, Type C

    Article • Molecular Genetics and Metabolism, February 2012, Elsevier

    Professor Marc C Patterson

  39. Update From the International Registry for Niemann-Pick Disease Type C (NP-C) in Clinical Practice

    Article • Molecular Genetics and Metabolism, February 2012, Elsevier

    Professor Marc C Patterson

  40. Disorders of Glycosylation

    Article • January 2012, Elsevier

    Professor Marc C Patterson

  41. Diseases Associated with Primary Abnormalities in Carbohydrate Metabolism

    Article • January 2012, Elsevier

    Professor Marc C Patterson

  42. Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

    Article • Orphanet Journal of Rare Diseases, January 2012, Springer Science + Business Media

    Professor Marc C Patterson

  43. Inborn Errors of Metabolism for Child Neurology Residents

    Article • Seminars in Pediatric Neurology, June 2011, Elsevier

    Professor Marc C Patterson

  44. Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria

    Article • Deutsche Zeitschrift für Nervenheilkunde, March 2011, Springer Science + Business Media

    Professor Marc C Patterson

  45. Longitudinal study of cognition in Niemann-Pick Disease, Type C

    Article • Molecular Genetics and Metabolism, February 2011, Elsevier

    Professor Marc C Patterson

  46. ZOOM: Observational genetic screening study of Niemann-Pick Disease Type C in adults with neurological and psychiatric signs

    Article • Molecular Genetics and Metabolism, February 2011, Elsevier

    Professor Marc C Patterson

  47. Baseline data from a prospective international disease registry for Niemann-Pick disease type C

    Article • Molecular Genetics and Metabolism, February 2011, Elsevier

    Professor Marc C Patterson

  48. Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

    Article • Molecular Genetics and Metabolism, April 2010, Elsevier

    Professor Marc C Patterson

  49. Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNALeu(CUN) gene

    Article • Journal of the Neurological Sciences, March 2010, Elsevier

    Professor Marc C Patterson

  50. 106. Longitudinal study of cognition in subjects with Niemann–Pick disease, type C

    Article • Molecular Genetics and Metabolism, February 2010, Elsevier

    Professor Marc C Patterson

  51. Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome

    Article • American Journal of Medical Genetics Part A, December 2009, Wiley

    Professor Marc C Patterson

  52. Subclinical seizures in children diagnosed with localization-related epilepsy: Clinical and EEG characteristics

    Article • Epilepsy & Behavior, September 2009, Elsevier

    Professor Marc C Patterson

  53. Spiral analysis in Niemann-Pick disease type C

    Article • Movement Disorders, August 2009, Wiley

    Professor Marc C Patterson

  54. Limbic encephalitis associated with anti-GAD antibody and common variable immune deficiency

    Article • Developmental Medicine & Child Neurology, July 2009, Wiley

    Professor Marc C Patterson

  55. IGF system in children with congenital disorders of glycosylation

    Article • Clinical Endocrinology, June 2009, Wiley

    Professor Marc C Patterson

  56. 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

    Article • Genetics in Medicine, April 2009, Nature

    Professor Marc C Patterson

  57. 98. Small molecule therapies for neurologic manifestations of LSD in humans

    Article • Molecular Genetics and Metabolism, February 2009, Elsevier

    Professor Marc C Patterson

  58. 99. Long-term clinical trial with miglustat in Niemann-Pick disease type C

    Article • Molecular Genetics and Metabolism, February 2009, Elsevier

    Professor Marc C Patterson

  59. 101. Longitudinal study of cognition in subjects with Niemann-Pick disease, type C

    Article • Molecular Genetics and Metabolism, February 2009, Elsevier

    Professor Marc C Patterson

  60. 154. Disease stability in patients with Niemann–Pick disease type C treated with miglustat

    Article • Molecular Genetics and Metabolism, February 2009, Elsevier

    Professor Marc C Patterson

  61. 100. A multicentre retrospective survey of miglustat in patients with Niemann-Pick type C disease

    Article • Molecular Genetics and Metabolism, February 2009, Elsevier

    Professor Marc C Patterson

  62. Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

    Article • American Journal of Medical Genetics Part B Neuropsychiatric Genetics, January 2009, Wiley

    Professor Marc C Patterson

  63. The frequency of non-epileptic spells in children: Results of video–EEG monitoring in a tertiary care center

    Article • Seizure, October 2008, Elsevier

    Professor Marc C Patterson

  64. 111. Miglustat in Niemann-Pick disease type C (NPC)

    Article • Molecular Genetics and Metabolism, February 2008, Elsevier

    Professor Marc C Patterson

  65. 115. Disease progression in Niemann-Pick disease, type C: Longitudinal

    Article • Molecular Genetics and Metabolism, February 2008, Elsevier

    Professor Marc C Patterson

  66. 21 Miglustat in Niemann–Pick type C (NPC) disease: Results of 12-months_ treatment

    Article • Molecular Genetics and Metabolism, December 2007, Elsevier

    Professor Marc C Patterson

  67. 71 Niemann-Pick disease, type C: A model for pathophysiology and management of LSDs

    Article • Molecular Genetics and Metabolism, December 2007, Elsevier

    Professor Marc C Patterson

  68. WITHDRAWN: 96 Miglustat in Niemann-Pick type C (NPC) disease: Results of 12-months treatment

    Article • Molecular Genetics and Metabolism, October 2007, Elsevier

    Professor Marc C Patterson

  69. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

    Article • The Lancet Neurology, September 2007, Elsevier

    Professor Marc C Patterson

  70. Section Editors

    Article • January 2007, Elsevier

    Professor Marc C Patterson

  71. Manuel Rodriguez Gomez, MD

    Article • Pediatric Neurology, July 2006, Elsevier

    Professor Marc C Patterson

  72. Pompe disease diagnosis and management guideline

    Article • Genetics in Medicine, May 2006, Nature

    Professor Marc C Patterson

  73. NPC - LINKS TO DYSLIPIDEMIA BUT NOT CARDIOVASCULAR RISK

    Article • Journal of Pediatric Gastroenterology and Nutrition, October 2005, Wolters Kluwer Health

    Professor Marc C Patterson

  74. Introduction

    Article • Seminars in Pediatric Neurology, September 2005, Elsevier

    Professor Marc C Patterson

  75. Metabolic Mimics: The Disorders of N-Linked Glycosylation

    Article • Seminars in Pediatric Neurology, September 2005, Elsevier

    Professor Marc C Patterson

  76. The pathophysiology and mechanisms of NP-C disease

    Article • Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, October 2004, Elsevier

    Professor Marc C Patterson

  77. Therapy of Niemann–Pick disease, type C

    Article • Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, October 2004, Elsevier

    Professor Marc C Patterson

  78. A Riddle Wrapped in a Mystery: Understanding Niemann-Pick Disease, Type C

    Article • The Neurologist, November 2003, Wolters Kluwer Health

    Professor Marc C Patterson

  79. Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance ofPTC1-like domains inNPC1

    Article • Human Mutation, October 2003, Wiley

    Professor Marc C Patterson

  80. Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene

    Article • Journal of the Neurological Sciences, May 2003, Elsevier

    Professor Marc C Patterson

  81. Fabry's Disease

    Article • January 2003, Elsevier

    Professor Marc C Patterson

  82. Gangliosidoses

    Article • January 2003, Elsevier

    Professor Marc C Patterson

  83. Gaucher's Disease

    Article • January 2003, Elsevier

    Professor Marc C Patterson

  84. Hexosaminidase Deficiency

    Article • January 2003, Elsevier

    Professor Marc C Patterson

  85. Krabbe's Disease

    Article • January 2003, Elsevier

    Professor Marc C Patterson

  86. Leukodystrophy

    Article • January 2003, Elsevier

    Professor Marc C Patterson

  87. Leukoencephalopathy

    Article • January 2003, Elsevier

    Professor Marc C Patterson

  88. Lipidoses

    Article • January 2003, Elsevier

    Professor Marc C Patterson

  89. Abetalipoproteinemia (ABL, Bassen–Kornzweig Disease)

    Article • January 2003, Elsevier

    Professor Marc C Patterson

  90. Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia

    Article • Genetics in Medicine, December 2001, Nature

    Professor Marc C Patterson

  91. Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1

    Article • The American Journal of Human Genetics, June 2001, Elsevier

    Professor Marc C Patterson

  92. Violent recurrent ballism associated with infections in two children with static encephalopathy

    Article • Movement Disorders, May 2000, Wiley

    Professor Marc C Patterson

  93. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

    Article • Journal of Clinical Investigation, January 2000, American Society for Clinical Investigation

    Professor Marc C Patterson

  94. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome

    Article • The Journal of Pediatrics, December 1999, Elsevier

    Professor Marc C Patterson

  95. Mutation causing congenital myasthenia reveals acetylcholine receptor β/δ subunit interaction essential for assembly

    Article • Journal of Clinical Investigation, November 1999, American Society for Clinical Investigation

    Professor Marc C Patterson

  96. Broad screening test for sphingolipid-storage diseases

    Article • The Lancet, September 1999, Elsevier

    Professor Marc C Patterson

  97. Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

    Article • American Journal of Medical Genetics, October 1998, Wiley

    Professor Marc C Patterson

  98. Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

    Article • American Journal of Medical Genetics, October 1998, Wiley

    Professor Marc C Patterson

  99. Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease

    Article • Annals of Neurology, October 1997, Wiley

    Professor Marc C Patterson

  100. Severe Hajdu‐Cheney syndrome with upper airway obstruction

    Article • American Journal of Medical Genetics, June 1997, Wiley

    Professor Marc C Patterson

  101. Severe Hajdu-Cheney syndrome with upper airway obstruction

    Article • American Journal of Medical Genetics, June 1997, Wiley

    Professor Marc C Patterson

  102. Movement and Allied Disorders in Childhood

    Article • Mayo Clinic Proceedings, June 1997, Elsevier

    Professor Marc C Patterson

  103. Angelman's syndrome: clinical and electroencephalographic findings

    Article • Electroencephalography and Clinical Neurophysiology, April 1997, Elsevier

    Professor Marc C Patterson

  104. Successful Treatment of Intrathecal Methotrexate Overdose by Using Ventriculolumbar Perfusion and Intrathecal Instillation of Carboxypeptidase G2

    Article • Mayo Clinic Proceedings, February 1996, Elsevier

    Professor Marc C Patterson

  105. Childhood Dural Arteriovenous Fistulae of the Posterior Dural Sinuses

    Article • Neurosurgery, December 1995, Wolters Kluwer Health

    Professor Marc C Patterson

  106. Childhood Dural Arteriovenous Fistulae of the Posterior Dural Sinuses

    Article • Neurosurgery, December 1995, Wolters Kluwer Health

    Professor Marc C Patterson

  107. Demyelination in niemann-pick disease, type C

    Article • Pediatric Neurology, September 1994, Elsevier

    Professor Marc C Patterson

  108. Diagnosis of Niemann-Pick disease type C

    Article • The Journal of Pediatrics, April 1994, Elsevier

    Professor Marc C Patterson

  109. Rearrangement of Valproate Glucuronide in a Patient with Drug-Associated Hepatobiliary and Renal Dysfunction

    Article • Epilepsia, December 1985, Wiley

    Professor Marc C Patterson

  110. A phase I/II randomised control study of OGT 918 in patients with Niemann-Pick type C disease

    Article • Springer Science + Business Media

    Professor Marc C Patterson