Marc C Patterson

Marc C Patterson

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Marc C Patterson

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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis.

Mol Genet Genomic Med 2019 Jul 21;7(7):e00712. Epub 2019 May 21.

Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, Minnesota.

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http://dx.doi.org/10.1002/mgg3.712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625138PMC
July 2019

Miglustat in Niemann-Pick disease type C patients: a review.

Orphanet J Rare Dis 2018 08 15;13(1):140. Epub 2018 Aug 15.

Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1186/s13023-018-0844-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094874PMC
August 2018

The More Things Change… Child Neurology in the Age of Next-Generation Sequencing.

Authors:
Marc C Patterson

Semin Pediatr Neurol 2018 07 1;26:37-38. Epub 2017 Jul 1.

Division of Child and Adolescent Neurology, Departments of Neurology, Pediatrics and Medical Genetics, Mayo Clinic Children's Center, Rochester, MN. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.06.003DOI Listing
July 2018

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Neurol Clin Pract 2017 Dec;7(6):499-511

Mayo Clinic (MCP), Rochester, MN; UCL Great Ormond Street Institute of Child Health (PC, PG), London, UK; Great Ormond Street Hospital (PG), London, UK; Département de Neurologie (MA), Hôpital de Hautepierre, CHU de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (MA), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (MA), Université de Strasbourg, France; Institute of Medical Genetics and Applied Genomics (PB), University Hospital of Tübingen; Centogene AG (PB), Rostock, Germany; Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (OB), CHU de Nantes, France; Regional Coordinator Centre for Rare Diseases (AD), University Hospital Santa Maria della Misericordia, Udine, Italy; Division of Metabolism, Bambino Gesù Children's Hospital (CD-V), Rome, Italy; Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie der Universität Regensburg am Bezirksklinikum (H-HK), Regensburg, Germany; Hospices Civils de Lyon-Centre de Biologie et Pathologie Est (PL), Bron, France; University of São Paulo (HCFMRP-USP) (CML), Ribeirão Preto, SP, Brazil; Department of Medicine (DSO), Washington University, St Louis, MO; Child Development Centre (AP), Addenbrooke's Hospital, Cambridge, UK; University of Zaragoza (MP), IIS Aragon, Spain; Department of Neurology and German Center for Vertigo and Balance Disorders (MS), University Hospital Munich, Germany; Laboratoire Gillet-Mérieux (MTV), Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France; Department of Neuropsychiatry (MW), Royal Melbourne Hospital & University of Melbourne, Australia; and Universitätsklinikum Münster (TM), Germany.

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http://dx.doi.org/10.1212/CPJ.0000000000000399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800709PMC
December 2017

Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues.

Mol Genet Metab 2017 Jan - Feb;120(1-2):1-7. Epub 2016 Nov 12.

Department of Human Genetics and Medicine, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

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http://dx.doi.org/10.1016/j.ymgme.2016.10.010DOI Listing
August 2017

Niemann-Pick disease, type C and Roscoe Brady.

Mol Genet Metab 2017 Jan - Feb;120(1-2):34-37. Epub 2016 Nov 29.

Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, New York, NY, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192163032
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http://dx.doi.org/10.1016/j.ymgme.2016.11.008DOI Listing
August 2017

A Patient as Art: Andrew Wyeth's Portrayal of Christina Olson's Neurologic Disorder in Christina's World.

J Child Neurol 2017 06 28;32(7):647-649. Epub 2017 Mar 28.

3 Medical Service, VA Maryland Healthcare System, MD, USA.

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http://dx.doi.org/10.1177/0883073817700603DOI Listing
June 2017

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.

Clin Case Rep 2016 09 15;4(9):885-95. Epub 2016 Aug 15.

Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA; Department of Biomedical Informatics Mayo Clinic Rochester Minnesota USA; Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA.

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http://dx.doi.org/10.1002/ccr3.655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018595PMC
September 2016

Perspective: The rare must become common.

Authors:
Marc C Patterson

Nature 2016 09;537(7621):S151

Mayo Clinic Children's Center, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1038/537S151aDOI Listing
September 2016

Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest.

J Inherit Metab Dis 2016 05 1;39(3):327-329. Epub 2016 Apr 1.

Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Institute of Child Health, and Metabolic Department, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1007/s10545-016-9931-3DOI Listing
May 2016

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

JAMA Neurol 2016 Feb;73(2):237-8

Department of Neurology, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1001/jamaneurol.2015.2976DOI Listing
February 2016

Acute Encephalopathy With Biphasic Seizures and Late Restricted Diffusion.

Pediatr Neurol 2016 Feb 17;55:74-5. Epub 2015 Nov 17.

Department of Neurology, Mayo Clinic, Rochester, Minnesota; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota; Department of Pediatrics, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.10.010DOI Listing
February 2016

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.

Pediatr Neurol 2016 Feb 6;55:46-51. Epub 2015 Nov 6.

Division of Cardiovascular Diseases, Department of Medicine, Mayo Clinic, Rochester, Minnesota; Department of Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), Mayo Clinic, Rochester, Minnesota; Department of Molecular Pharmacology & Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.10.014DOI Listing
February 2016

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

Pediatr Neurol 2016 Jan 21;54:91-2. Epub 2015 Sep 21.

Divisions of Child and Adolescent Neurology and Epilepsy, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.09.007DOI Listing
January 2016

Neurological aspects of human glycosylation disorders.

Annu Rev Neurosci 2015 Jul 2;38:105-25. Epub 2015 Apr 2.

Sanford-Burnham Medical Research Institute, La Jolla, California 92037; email: ,

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http://dx.doi.org/10.1146/annurev-neuro-071714-034019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4809143PMC
July 2015

Epidural hematoma in a patient on pegylated-L-asparginase therapy.

J Child Neurol 2015 Apr 5;30(5):636. Epub 2014 Jan 5.

Division of Child and Adolescent Neurology, Mayo Clinic, Rochester MN, USA.

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http://dx.doi.org/10.1177/0883073813512900DOI Listing
April 2015

Consensus statement on preventive and symptomatic care of leukodystrophy patients.

Mol Genet Metab 2015 Apr 27;114(4):516-26. Epub 2014 Dec 27.

Departments of Neurology, Pediatrics and Medical Genetics, Mayo Clinic, Rochester, MN, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192140082
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http://dx.doi.org/10.1016/j.ymgme.2014.12.433DOI Listing
April 2015

Disease specific therapies in leukodystrophies and leukoencephalopathies.

Mol Genet Metab 2015 Apr 7;114(4):527-36. Epub 2015 Feb 7.

Department of Neurology, Children's National Health System, Washington, DC, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC USA; Department of Integrated Systems Biology, George Washington University School of Medicine, Washington, DC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390468PMC
April 2015

Brave New World.

Authors:
Marc C Patterson

Child Neurol Open 2014 Jul-Sep;1(1):2329048X14542399. Epub 2014 Aug 26.

Division of Child and Adolescent Neurology, Mayo Clinic Children's Center, Rochester, MN, USA.

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http://dx.doi.org/10.1177/2329048X14542399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417025PMC
August 2014

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 13;21(2):88-9. Epub 2014 Apr 13.

Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1016/j.spen.2014.04.008DOI Listing
June 2014

Editorial comment: Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia and hallucinations in an adolescent male.

Authors:
Marc C Patterson

Semin Pediatr Neurol 2014 Jun 17;21(2):109-10. Epub 2014 Jun 17.

Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2014.06.006DOI Listing
June 2014

Editorial comment: Ataxia, ophthalmoplegia, and impairment of consciousness in a 19 month-old American boy.

Authors:
Marc C Patterson

Semin Pediatr Neurol 2014 Jun 17;21(2):144. Epub 2014 Jun 17.

Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2014.06.007DOI Listing
June 2014

Gangliosidoses.

Authors:
Marc C Patterson

Handb Clin Neurol 2013 ;113:1707-8

Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00039-3DOI Listing
March 2014

Proton magnetic resonance spectroscopy as a probe into the pathophysiology of autism spectrum disorders (ASD): a review.

Autism Res 2013 Apr 21;6(2):119-33. Epub 2013 Feb 21.

Department of Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://doi.wiley.com/10.1002/aur.1273
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http://dx.doi.org/10.1002/aur.1273DOI Listing
April 2013

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

Pediatr Transplant 2013 Mar 17;17(2):E67-70. Epub 2013 Jan 17.

Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1111/petr.12039DOI Listing
March 2013

Views of recently first-certified US child neurologists on their residency training.

J Child Neurol 2013 Mar 28;28(3):332-9. Epub 2013 Jan 28.

Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45230, USA.

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http://dx.doi.org/10.1177/0883073812473644DOI Listing
March 2013

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

Mol Genet Metab 2012 Jul 8;106(3):330-44. Epub 2012 May 8.

Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.03.012DOI Listing
July 2012

Epilepsy in children--when should we think neurometabolic disease?

J Child Neurol 2012 May 28;27(5):663-71. Epub 2012 Feb 28.

Division of Child and Adolescent Neurology, Mayo Clinic Children's Center, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1177/0883073811435829DOI Listing
May 2012

Neurology of inherited glycosylation disorders.

Lancet Neurol 2012 May;11(5):453-66

Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1016/S1474-4422(12)70040-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625645PMC
May 2012

Teaching neuroimages: call it as you see it: evolution of bilateral striatal necrosis.

Neurology 2012 May;78(19):e123

Department of Neurology, Mayo Clinic, Rochester, MN, USA.

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http://www.neurology.org/cgi/doi/10.1212/WNL.0b013e3182553cd
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http://dx.doi.org/10.1212/WNL.0b013e3182553cdaDOI Listing
May 2012

Measuring to improve: a new rating scale for Batten disease.

Authors:
Marc C Patterson

Neurology 2011 Nov 19;77(20):1779-80. Epub 2011 Oct 19.

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http://dx.doi.org/10.1212/WNL.0b013e3182377e6fDOI Listing
November 2011

Inborn errors of metabolism for child neurology residents.

Authors:
Marc C Patterson

Semin Pediatr Neurol 2011 Jun;18(2):95-7

Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.spen.2011.06.016DOI Listing
June 2011

Movers and shakers: diagnosing neurotransmitter diseases with CSF.

Authors:
Marc C Patterson

Neurology 2010 Jul 9;75(1):15-7. Epub 2010 Jun 9.

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http://dx.doi.org/10.1212/WNL.0b013e3181e9aeeaDOI Listing
July 2010

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

Mol Genet Metab 2010 Apr 31;99(4):351-7. Epub 2009 Dec 31.

Willink Biochemical Genetics Unit, Department of Genetic Medicine, St. Mary's Hospital, Manchester, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920900527
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http://dx.doi.org/10.1016/j.ymgme.2009.12.006DOI Listing
April 2010

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

Department of Radiology, Mayo Clinic Graduate School of Medical Education, 200 First St S.W., Rochester, MN 55905, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33108
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http://dx.doi.org/10.1002/ajmg.a.33108DOI Listing
December 2009

Myelination disturbance in a patient with hyperuricemia and hyperserotoninemia combined with 18q deletion syndrome.

Ideggyogy Sz 2009 Nov;62(11-12):413-7

Department of Pediatrics and Children's Health Center, Albert Szent-Györgyi Medical Centre, University of Szeged, Szeged, Hungary.

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November 2009

Spiral analysis in Niemann-Pick disease type C.

Mov Disord 2009 Oct;24(13):1984-90

Department of Neurology, Clinical Motor Physiology Laboratory, Columbia University Medical Center, New York, New York, USA.

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http://dx.doi.org/10.1002/mds.22744DOI Listing
October 2009

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

Epilepsy Behav 2009 Sep 25;16(1):86-98. Epub 2009 Jul 25.

Comprehensive Epilepsy Center, Department of Neurology, Columbia University College of Physician and Surgeons, New York, NY, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S152550500900326
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http://dx.doi.org/10.1016/j.yebeh.2009.06.026DOI Listing
September 2009

From stargazing chicks to seizing infants: thiamine deficiency redux.

Authors:
Marc C Patterson

Neurology 2009 Sep 5;73(11):824-5. Epub 2009 Aug 5.

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http://dx.doi.org/10.1212/WNL.0b013e3181b72652DOI Listing
September 2009

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

Dev Med Child Neurol 2009 Jul 3;51(7):563-7. Epub 2009 Feb 3.

Comprehensive Epilepsy Center, Department of Neurology, Division of Pediatric Neurology and Epilepsy, Columbia University College of Physicians and Surgeons, New York, NY, USA.

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http://doi.wiley.com/10.1111/j.1469-8749.2008.03217.x
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http://dx.doi.org/10.1111/j.1469-8749.2008.03217.xDOI Listing
July 2009

IGF system in children with congenital disorders of glycosylation.

Clin Endocrinol (Oxf) 2009 Jun 22;70(6):892-7. Epub 2009 Jan 22.

Division of Pediatric Endocrinology, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1111/j.1365-2265.2009.03531.xDOI Listing
June 2009

Unraveling the sterol-trafficking defect in Niemann-Pick C disease.

Proc Natl Acad Sci U S A 2009 Feb 11;106(7):2093-4. Epub 2009 Feb 11.

Department of Pediatrics and Institute of Human Nutrition, Columbia University Medical Center, 630 West 168th Street, New York, NY 10032, USA.

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http://dx.doi.org/10.1073/pnas.0812934106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2650112PMC
February 2009

Long-term outcome of symptomatic infantile spasms established by video-electroencephalography (EEG) monitoring.

J Child Neurol 2008 Nov;23(11):1288-92

Comprehensive Epilepsy Center, Department of Neurology, Columbia University College of Physician & Surgeons, New York, New York, USA.

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http://jcn.sagepub.com/content/23/11/1288.full.pdf
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http://jcn.sagepub.com/cgi/doi/10.1177/0883073808318540
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http://dx.doi.org/10.1177/0883073808318540DOI Listing
November 2008

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

Seizure 2008 Oct 1;17(7):583-7. Epub 2008 May 1.

Comprehensive Epilepsy Center, Department of Neurology, Division of Pediatric Neurology and Epilepsy, Columbia University College of Physician & Surgeons, New York, NY 10032, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S105913110800055
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http://dx.doi.org/10.1016/j.seizure.2008.02.010DOI Listing
October 2008

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

Lancet Neurol 2007 Sep;6(9):765-72

Department of Neurology and Pediatrics, Columbia University, NY, USA.

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http://dx.doi.org/10.1016/S1474-4422(07)70194-1DOI Listing
September 2007

Scurvy and rickets masked by chronic neurologic illness: revisiting "psychologic malnutrition".

Pediatrics 2007 Mar;119(3):e783-90

Department of Neurology, Morgan Stanley Children's Hospital of New York, New York, NY 10032, USA.

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http://dx.doi.org/10.1542/peds.2006-1071DOI Listing
March 2007

In memoriam: Manuel Rodriguez Gomez, MD July 4, 1928 - January 21, 2006.

Pediatr Neurol 2006 Jul;35(1):47-8

Mayo Clinic and Mayo Clinic School of Medicine, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2006.06.003DOI Listing
July 2006

Metabolic mimics: the disorders of N-linked glycosylation.

Authors:
Marc C Patterson

Semin Pediatr Neurol 2005 Sep;12(3):144-51

Division of Pediatric Neurology, Columbia University Medical Center, Harkness Pavilion, HP-540, 180 Fort Washington Avenue, New York, NY 10032, USA.

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September 2005

Therapy of Niemann-Pick disease, type C.

Biochim Biophys Acta 2004 Oct;1685(1-3):77-82

Division of Pediatric Neurology, Neurological Institute of New York and Columbia University College of Physicians and Surgeons, 180 Fort Washington Avenue, HP-542, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/j.bbalip.2004.08.013DOI Listing
October 2004

The pathophysiology and mechanisms of NP-C disease.

Biochim Biophys Acta 2004 Oct;1685(1-3):83-7

Institute of Human Nutrition, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/j.bbalip.2004.08.014DOI Listing
October 2004

Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease.

J Child Neurol 2004 Jan;19(1):59-62

Division of Pediatric Neurology, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1177/08830738040190010707DOI Listing
January 2004

A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C.

Authors:
Marc C Patterson

Neurologist 2003 Nov;9(6):301-10

Division of Pediatric Neurology, Columbia University College of Physicians and Surgeons; Children's Hospital of New York and The Neurological Institute of New York, Harkness Pavilion, HP-542, 180 Fort Washington Avenue, New York, NY, USA.

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http://dx.doi.org/10.1097/01.nrl.0000094627.78754.5bDOI Listing
November 2003

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

Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1002/humu.10255DOI Listing
October 2003

Mental retardation: X marks the spot.

Neurology 2003 Jul;61(2):156-7

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http://dx.doi.org/10.1212/wnl.61.2.156DOI Listing
July 2003

Holoprosencephaly: the face predicts the brain; the image predicts its function.

Authors:
Marc C Patterson

Neurology 2002 Dec;59(12):1833-4

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http://dx.doi.org/10.1212/wnl.59.12.1833DOI Listing
December 2002