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Darryl C. De Vivo, MD

  • Sidney Carter Professor of Neurology
  • Professor of Pediatrics
  • Founding Director, Colleen Giblin Research Laboratories for Pediatric Neurology
  • Associate Chairman, Pediatric Neurosciences and Developmental Neurobiology
  • Co-Director, Motor Neuron Center
  • Director, Spinal Muscular Atrophy (SMA) Center
  • Chief Emeritus, Pediatric Neurology
Darryl C. De Vivo, MD

Dr. Darryl C. De Vivo, M.D., is the Sidney Carter Professor of Neurology, Professor of Pediatrics, and Director Emeritus (1979-2000) of the Pediatric Neurology Service at Columbia University Medical Center in New York City. Dr. De Vivo received his M.D. Degree from the University of Virginia Medical School. Residency training in Medicine, Pediatrics, Neurology and Pediatric Neurology followed at Harvard, National Institutes of Health and Washington University. He then joined the Medical School Faculty at Washington University and over the next decade was promoted from Assistant Professor to Professor as he developed his clinical research skills in neurochemistry, metabolic diseases and neuromuscular disorders. He joined the Columbia University Faculty in 1979 as the Sidney Carter Professor of Neurology and Pediatrics and Director of the Pediatric Neurology Service. Currently he continues to fulfill his duties as Founding Director, Colleen Giblin Research Laboratories; Director, Pediatric Neuromuscular Disease Center, Co-Director of the Center for Motor Neuron Biology and Diseases (MNC) and Associate Chairman (Neurology) for Pediatric Neurosciences.  Dr. De Vivo was a Director for Neurology and President of the American Board of Psychiatry and Neurology, Secretary of the American Academy of Neurology, and President of the Child Neurology Society. He has published more than 450 original articles and reviews, lectures extensively in the U.S. and abroad, serves on several editorial boards and advisory committees, and is a former associate editor for Rudolph's Textbook of Pediatrics. He is a current editor of "Neuromuscular disorders in Infancy, Childhood and Adolescence: A Clinician's Approach", recognized as the standard reference in the field. Dr. De Vivo receives funding from the NIH, DOD, SMA Foundation, MDA, Colleen Giblin Foundation, Milestones for Children and the Will Foundation. He serves as the Director for the PNCR Clinical Trials Network for SMA.

Research Interests: Genetically-determined metabolic diseases that affect the developing brain and neuromuscular system. Specific disorders include Glut1 deficiency, mitochondrial diseases, epilepsy, Duchenne muscular dystrophy, Spinal Muscular Atrophy (SMA) and other pediatric neuromuscular diseases.

Clinical Interests: Child neurology, neuromuscular disorders, neurometabolic disorders, and neurogenetics.

Departmental Appointments

  • Department of Neurology
    Division of Child Neurology
  • Department of Pediatrics

Board Certifications

  • Child Neurology
  • Neurology with Special Qualification in Child Neurology

Areas of Expertise

  • Child Neurology
  • Neurology With Special Qualifications In Child Neurology
  • Pediatric Neuromuscular Disease
  • Mitochondrial Diseases
  • Neurometabolic Disorder
  • Pediatric Epilepsy

Education & Training

  • University of Virginia School of Medicine
  • Residency: National Institutes of Health
  • Residency: Massachusetts General Hospital
  • Fellowship: Washington University Medical Center

Locations

  • Neurological Institute of New York

    710 West 168th Street
    Floor: 2, Room: 201
    New York, NY 10032
    Phone:
    (212) 305-5244
    For new and current patient appointments, call:
    (646) 426-3876
    Fax:
    (212) 305-7036
  • Harkness Pavilion

    180 Fort Washington Avenue
    Floor: 5
    New York, NY 10032
    Phone:
    (212) 305-5244
    For new and current patient appointments, call:
    (646) 426-3876
    Fax:
    (212) 305-7036

Centers/Institutes/Programs

  • Colleen Giblin Research Laboratories
  • Motor Neuron Center
  • Spinal Muscular Atrophy Center

Provider Affiliations

  • NewYork-Presbyterian/Columbia

This provider sees pediatric patients

This provider accepts new patients

Appointment Phone Number: (212) 305-5244

Research Interests

  • Research interests include genetically-determined metabolic diseases that affect the developing brain and neuromuscular system. Specific disorders include Glut1 deficiency, mitochondrial diseases, epilepsy, Duchenne muscular dystrophy, Spinal Muscular Atrophy (SMA) and other neuromuscular diseases.

NIH Grants

  • AN OPEN-LABEL, MULTI-CENTER, 48-WEEK STUDY WITH A CONCURRENT UNTREATED CONTROL ARM TO EVALUATE THE EFFICACY AND SAFETY OF ETEPLIRSEN IN DUCHENNE MUSCULAR DYSTROPHY (P&S Industry Clinical Trial)

    Dec 15 2014 - Dec 15 2019

    MITOCHONDRIAL ENCEPHALOMYOPATHIES: APPROACHES TO TREATMENT (Federal Gov)

    Sep 30 2014 - May 31 2019

    A RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, PARALLEL-GROUP, ADAPTIVE STUDY TO ASSESS THE SAFETY AND EFFICACY OF UX007 IN SUBJECTS WITH GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME (P&S Industry Clinical Trial)

    Jan 17 2014 - Jan 17 2019

    AN OPEN-LABEL, SAFETY STUDY FOR PREVIOUSLY TREATED ATALUREN (PTC124?) PATIENTS WITH NONSENSE MUTATION DYSTROPHINOPATHY. (P&S Industry Clinical Trial)

    Mar 9 2011 - Mar 9 2016

    MITOCHONDRIAL ENCEPHALOMYOPATHIES AND MENTAL RETARDATION (Federal Gov)

    Dec 1 1996 - Feb 29 2016

    SMA FOUNDATION CENTER GRANT (Private)

    Jul 1 2015 - Dec 31 2015

    PEDIATRIC NEUROMUSCULAR CLINICAL RESEARCH NETWORK FOR SMA (Private)

    Jul 1 2012 - Jun 30 2015

    GENE THERAPY OF GLUT1 DEFICIENCY (Private)

    Jan 1 2012 - May 31 2015

    COLUMBIA SMA PROJECT: 4-AP AS A POTENTIAL SMA THERAPEUTIC AGENT AND BIOLOGICAL MECHANISMS OF ACTION (Federal Gov)

    Sep 1 2011 - Aug 31 2014

    COLUMBIA SMA PROJECT: A RANDOMIZED, CONTROL TRIAL OF THE EFFECTS OF EXERCISE ON MOTOR FUNCTION AND STRENGTH IN PATIENTS WITH SPINAL MUSCULAR ATROPHY (SMA) (Federal Gov)

    May 3 2010 - May 2 2014

    GIBLIN RESEARCH FUND FOR PEDIATRIC NEUROLOGY (Private)

    Jul 1 1994 - Dec 31 2013

    PEDIATRIC NEUROMUSCULAR CLINICAL RESEARCH (Private)

    Jul 1 2004 - Jun 30 2012

    PEDIATRIC NEUROMUSCULAR CLINICAL RESEARCH NETWORK (Private)

    Jul 1 2004 - Jun 30 2012

    PEDIATRIC NEUROMUSCULAR CLINICAL RESEARCH NETWORK FOR SPINAL MUSCULAR ATROPHY CLINICAL TRIALS (Private)

    Jul 1 2004 - Jun 30 2012

    NEUROLOGICAL SCIENCES ACADEMIC DEVELOPMENT AWARD (NSADA) (Federal Gov)

    Jul 1 1993 - Jun 30 2011

    NEWBORN SCREENING STUDY FOR CARNITINE DEFICIENCY (Private)

    Jul 1 1999 - Jun 30 2005

Publications

2010-2015

  • Iannicelli M and the International JSRD Study Group: Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies. Human Mutat. 31(5):E1319-31, 2010.
  • Montes J, McDermott MP, Martens WB, Dunaway S, Glanzman AM, Riley S, Quigley J, Montgomery
  • MJ, Sproule D, Tawil R, Chung W, Darras BT, De Vivo DC, Kaufmann P, Finkel RS: Six-Minute walk test demonstrates motor fatigue in Spinal Muscular Atrophy. Neurology. 74:833-838; 2010.
  • Akman C, Engelstad K, Hinton V, Ullner P, Koenigsberger D, Leary L, Wang D, De Vivo DC: Acute Hyperglycemia produces transient improvement in glucose transporter type 1 Deficiency. Annals of Neurology. 67(1):31-40, 2010.
  • De Vivo DC, Fishman MA, Johnsen SD, Prensky AL, Volpe JJ: Honoring a giant in Child Neurology… Help find and fund new ones: contributing to the Philip R. Dodge Young Investigator Award Endowment Fund. J Child Neurol. 25(2):250-253, 2010.
  • Dunaway S, Montes J, Montgomery M, Battista V, Koo B, Marra J, De Vivo DC, Hynan LS, Iannaccone ST, Kaufmann P: Reliability of telephone administration of the PedsQLTM Generic quality of life inventoryTM and Neuromuscular ModuleTM in Spinal Muscular Atrophy (SMA). Neuromuscul Disord. 20(3):162-165, 2010.
  • Pons R, Collins A, Rotstein M, Engelstad K, De Vivo DC:The spectrum of movement disorders in Glut-1 Deficiency. Mov. Disord. 25(3):275-281, 2010.
  • Rotstein M, De Vivo DC: Childhood absence epilepsy as a manifestation of Glut1 Deficiency. Ann Neurol. 67(2):272-273, 2010.
  • De Vivo DC: Eulogy for Philip R. Dodge, M.D. March 16, 1923-August 30, 2009. Ann Neurol. 67:274-276, 2010.
  • Levy B, Wang D, Ullner PM, Engelstad K, Yang H, Nahum O, Chung WK, De Vivo D: Uncovering microdeletions in patients with severe Glut1 Deficiency syndrome using SOMA. Mol Genet Metab. 100(2):129-135, 2010.
  • Parikh S, Nordli DR, De Vivo DC: Epilepsy in the setting of inherited Metabolic and Mitochondrial Disorders. In: Goodkin H (Assoc. Ed): Wyllie’s Treatment of Epilepsy, 5th Edition. Part III: Epileptic Seizures and Syndromes. Chap. 32, pp 368-390, 2010.
  • Nordli DR, De Vivo DC:The Ketogenic Diet. In: Goodkin H (Assoc. Ed): Wyllie’s Treatment of Epilepsy, 5th Edition. Part III: Epileptic Seizures and Syndromes Chap. 69, pp 790-782, 2010.
  • Parsons T, Weimer L, Engelstad K, Linker A, Battista V, Wei Y, Hirano M, DiMauro S, De Vivo DC, Kaufmann P: Autonomic symptoms in carriers of the m.3243 A>G mitochondrial DNA mutation. Arch Neurol. 67(8): 976-9, 2010.
  • Sproule DM, Montes J, Dunaway SL, Montgomery M, Battista V, When W, Punyanitya M, De Vivo DC, Kaufmann P: Bioelectrical Impedance Analysis can be a useful screen for excess adiposity in Spinal Muscular Atrophy. J Child Neurol. 25(11):1348-54, 2010.
  • Rotstein M, Engelstad K, Yang H, Wang D, Levy B, Chung WK, De Vivo DC: Glut1 Deficiency: Inheritance Pattern Determined by Haploinsufficiency. Ann Neurol. 68(6):955-8, 2010.
  • Sproule DM, Montes J, Dunaway S, Montgomery M, Battista V, Koenigsberger D, Martens B, Shen W, Punyanitya M, Benton M, Butler H, Caracciolo J, Mercuri E, Finkel R, Darras B, De Vivo DC, Kaufmann P: Adiposity is increased among High-Functioning, Non-Ambulatory Patients with Spinal Muscular Atrophy. Neuromuscul Disord. 20:448-52, 2010.
  • Stratogopoulos G, Lanzano P, Deng L, Guo J, Kaufmann P, Darras B, Finkel R, Tawil R, McDermott M, Martens W, De Vivo DC, Chung W: Association of Plastin 3 Expression with Disease Severity in Spinal Muscular Atrophy Only in Postpubertal Females. Arch Neurol. 67(10):1252-56, 2010.
  • Fujii T, Morimoto M, Yoshioka H, Ho Y, Py Law P, Wang D, De Vivo D: T295M associated Glut1 Deficiency Syndrome with normal erythrocyte 3-OMG uptake. Brain & Development. 33(4):316-20, 2011.
  • Sproule DM, Punyanitya M, Shen W, Dashnaw S, Martens B, Montgomery M, Montes J, Battista V, Finkel R, Darras B, De Vivo DC, Kaufmann P: Muscle Volume Estimation by Magnetic Resonance Imaging in Spinal Muscular Atrophy. J Child Neurol. 26(3):309-17, 2011.
  • Montes J, Dunaway S, Montgomery M, Sproule D, Kaufmann P, De Vivo DC, Rao A: Fatigue Leads to Gait Changes in Spinal Muscular Atrophy. Muscle & Nerve. 43(4):485-8, 2011.
  • Kaufmann P, McDermott D, Darras B, Finkel R, Kang P, Oskoui M, Constantinescu A, Sproule D, Foley A, Yang M, Tawil R, Chung W, Martens W, Montes J, O’Hagen J, Dunaway S, Flickinger J, Quigley J, Riley S, Glanzman A, Benton M, Ryan P, Luebbe L, Irvine C, Annis C, Butler H, Carraciolo J, Montgomery M, Marra J, Koo B, De Vivo DC: Observational Study of Spinal Muscular Atrophy Type 2 and 3: Functional Outcomes over One Year. Arch Neurol. 68(6):779-786, 2011.
  • De Vivo DC, DiMauro S: Mitochondrial Diseases. In: Swaiman KF, Ashwal S, Ferriero D (eds) Pediatric Neurology Principles and Practice, 5th Ed. Mosby Inc, St. Louis. Chap. 37, 2011.
  • Sproule DM, Montgomery MJ, Punyanitya M, Shen W, Dashnaw S, Montes J, Dunaway S, Finkel R, Darras B, De Vivo DC, Kaufmann P: Thigh Muscle Volume Measured by Magnetic Resonance Imaging Is Stable Over a 6-Month Interval in Spinal Muscular Atrophy. J Child Neurol. 26(10):1252-9, 2011.
  • Glanzman AM, O’Hagen JM, McDermott MP, Martens WB, Flickinger J, Riley S, Quigley J, Montes J, Dunaway S, Deng L, Chung WK, Tawil R, Darras BT, De Vivo DC, Kaufmann P, Finkel RS: Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy type II and III. Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR); Muscle Study Group (MSG). J Child Neurol. 26(12):1499-507, 2011.
  • Glanzman AM, McDermott MP, Montes J, Martens WB, Flickinger J, Riley S, Quigley J, Dunaway S, O’Hagen J, Deng L, Chung WK, Tawil R, Darras BT, De Vivo DC, Kaufmann P, Finkel RS: Validation of the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR); Muscle Study Group (MSG). Pediatr Phys Ther. 23(4):322-6, 2011.
  • Kaufmann P, Englestad K, Wei Y, Kulikova R, Oskoui M, Sproule DM, Battista V, Koenigsberger DY, Pascual JM, Shanske, S, Sano M, Mao X, Hirano M, Shungu DC, DiMauro S, De Vivo DC: Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology. 29:77(22):1965-71, 2011.
  • Dunaway S, Montes J, Ryan PA, Montgomery M, Sproule DM, De Vivo DC: Spinal Muscular Atrophy Type III: Trying to Understand Subtle Functional Change over Time—A Case Report. J Child Neurol. 70(6):996-1005, 2011.
  • Yang H, Wang D, Englestad K, Bagay L, Wei Y, Rotstein M, Aggarwal V, Levy B, Ma L, Chung WK, De Vivo, DC: Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol. 70(6):996-1005, 2011.
  • Sproule DM, Hasnain R, Koenigsberger D, Montgomery M, De Vivo DC, Kaufmann P: Age at Disease Onset Predicts Likelihood and Rapidity of Growth Failure among Infants and Young Children with Spinal Muscular Atrophy Types 1 and 2. J Child Neurol. 27(7):845-51, 2012.
  • Emmanuele V, Garcia-Cazorla A, Huang HB, Coku J, Dorado B, Cortes EP, Englestad K, De Vivo DC, DiMauro S, Bonilla E, Tanji K: Decreased hippocampal expression of calbindin D(28K) and cognitive impairment in MELAS. J Neurol Sci. 15;317(1-2):29-34, 2012.
  • Bongarzone ER, Givogri MI, De Vivo DC, DiMauro S: Inborn Metabolic Defects of Lysosomes, Peroxisomes, Carbohydrates, Fatty Acids and Mitochondria. In: Brady ST, Siegel GJ, Albers RW, Price DL, Benjamins J, Fisher S, Hall A, Bazan N, Coyle J, Sisodia S (eds). Basic Neurochemistry Principles of of Molecular, Cellular, and Medical Neurobiology. 8th Ed. Chap. 43, pp 755-782, 2012.
  • Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB, Oskoui M, Constantinescu A, Gooch CL, Foley AR, Yang ML, Tawil R, Chung WK, Martens WB, Montes J, Battista V, O’Hagen J, Dunaway S, Flickinger J, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Punyanitya M, Montgomery M, Marra J, Koo B, De Vivo DC, Muscle Study Group (MSG), Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR): Prospective cohort study of Spinal Muscular Atrophy types 2 and 3. Neurology. 30;79(18):1889-97, 2012.
  • Dunaway S, Montes J, O’Hagen J, Sproule D, De Vivo DC, Kaufmann P: Independent mobility after early introduction of a power wheelchair in children with Spinal Muscular Atrophy. J Child Neurol. 28(5):576-82, 2012.
  • Liu Y, Bao X, Wang D, Fu N, Zhang X, Cao G. Song F, Wang S, Zhang Y, Qin J, Yang, H, Engelstad K, De Vivo DC, Wu X: Allelic Variations of Glut1 Deficiency Syndrome: The Chinese Experience. Pediat Neurol. 47(1):30-4, 2012.
  • Woo SB, Lee KH, Kang HC, Yang H, De Vivo DC, Kim SK: First report of glucose transporter 1 deficiency syndrome in Korea with a novel splice site mutation. Gene. 506(2):380-2, 2012.
  • Pong AW, Geary BR, Engelstad KM, Natarajan A, Yang H, De Vivo DC: Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes. Epilepsia. 53(9):1503-10, 2012.
  • Wang D, Pascual J, De Vivo DC: Glucose transporter type 1 deficiency syndrome GeneReviews at GeneTests: Medical Genetics Information Resource [database online] August 2012) Copyright, University of Washington, Seattle, 1997-2010.
  • Garcia-Diaz B, Barros MH, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, DiMauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM: Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1. Am J Hum Genet. 91(4):729-36, 2012.
  • Montes J, McIsaac T, Dunaway S, Kamil-Rosenberg S, Sproule D, Garber C, De Vivo DC, Rao AK: Falls and Spinal Muscular Atrophy (SMA): Exploring Cause and Prevention. Muscle and Nerve. 47(1):118-123, 2013.
  • LaMarca NH, Golden L, Naini A, De Vivo DC, Sproule DM: Diabetic Ketoacidosis in an adult patient with Spinal Muscular Atrophy Type II: Further evidence of extraneural pathology due to survival motor neuron 1 mutation? J Child Neurol. 28(11):1517-1520, 2013.
  • Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC: Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Current Neurology and Neuroscience Reports. 13(4):342, 2012.
  • Pong AWY, De Vivo DC: Glucose Transporter Type 1 Deficiency Syndrome and Epilepsy. In: Pearl P (ed) Inherited Metabolic Epilepsies. Demos Medical, New York. Chap. 14, 2012.
  • Liew WKM, Ben-Omran T, Darras BT, Prabhu S, De Vivo DC, Vatta M, Yang Y, Eng CM, Chung WK: Clinical application of whole exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix Saguenay sequence mutation variation in a child with ataxia. JAMA Neurol. 70(6):788-791, 2013.
  • Kim, SK, Hong Y, Pascual JM, De Vivo DC: Valproic Acid Enhances Glucose Transport in the Cultured Brain Astrocytes of Glucose Transporter 1 Heterozygous Mice. J Child Neurol. 28(1):70-76, 2013.
  • Kobayashi DT, Shi J, Stephen L, Ballard KL, Dewey R, Mapes J, Chung B, McCarthy K, Swoboda KJ, Crawford TO, Li R, Plasterer T, Joyce J, the Biomarkers for Spinal Muscular Atrophy Study Group, Chung WK, Kaufmann P, Darras BT, Finkel RS, Sproule DM, Martens WB, McDermott MP, De Vivo DC, the Pediatric Neuromuscular Clinical Research Network, Walker MG, Chen KS: SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy. Plos One. 8(4):1-16, 2013.
  • Montes J, Blumenschine M, Dunaway S, Alter AS, Engelstad K, Rao AK, Chiriboga CA, Sproule DM, De Vivo DC: Weakness and Fatigue in Diverse Neuromuscular Diseases. J Child Neurol. 28(10):1277-83, 2013.
  • Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attie-Bitach T, Gleeson JG, Valente EM. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet. 21(10):1074-8, 2013.
  • Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, De Vivo DC, Muscle Study Group (MSG), Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR): The motor neuron response to SMN1 deficiency in Spinal Muscular Atrophy. Muscle Nerve. 49(5):636-44, 2014.
  • Monani, UR, De Vivo DC: Neurodegeneration in Spinal Muscular Atrophy: from disease phenotype and animal models to therapeutic strategies and beyond. Future Neurology, 9(1):49-65, 2014.
  • Levy R, Gutierrez R, Akman HO, De Vivo DC, Sciacco M, DiMauro S: Long survival in patients with Leigh Syndrome and the m.1019T>C mutation in MT-ND3: A case report and review of the literature. J Child Neurol. 29(10):NP105-10, 2014.
  • Weiduschat N, Kaufmann P, Mao X, Engelstad K, Hinton VJ, DiMauro S, De Vivo DC, Shungu DC: Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers. Neurol. 82(9):798-805, 2014.
  • Montes J, Dunaway S, Ewing Garber C, Chiriboga CA, De Vivo DC, Rao AK: Leg muscle function and fatigue during walking in Spinal Muscular Atrophy type 3. Muscle Nerve. 50(1):34-9, 2014.
  • Dunaway S, Montes, J, Garber CE, Carr B, Kramer S, Kamil-Rosenberg S, Strauss N, Sproule DM, De Vivo DC. Performance of the Timed “Up & Go” Test in Spinal Muscular Atrophy. Muscle Nerve. 50(2):273-7, 2014.
  • Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, Kang PB, Foley AR, Yang ML, Martens WB, Oskoui M, Glanzman AM, Flickinger J, Montes J, Dunaway S, O’Hagen J, Quigley J, Riley S, Benton M, Ryan PA, Montgomery M, Marra J, Gooch C, De Vivo DC: Observational Study of Spinal Muscular Atrophy Type I and Implications for Clinical Trials. Neurology. 83(9): 810-17, 2014.
  • Alter A, Engelstad K, Hinton V, Montes V, Pearson T, Akman C, De Vivo DC: Long-Term Clinical Course of Glut1 Deficiency Syndrome. J Child Neurol. 30(2): 160-169, 2015.
  • Nordli DR, De Vivo DC: Progressive childhood encephalopathy. In: Ebersole J, Husain AM, Nordli DR (eds) Current Practice of Clinical Electroencephalography, 4th Edition, Wolters Kluwer Health Philadelphia, PA. Chapter 9: 258-282, 2014.
  • Marra JD, Engelstad KE, Ankala A, Tajni K, Dastgir J, De Vivo DC, Coffee B, Chiriboga CA. Identification of a Novel Nemaline Myopathy-causing Mutation in the Troponin T1 (TNNT1) Gene: A case outside of the Old Order Amish. Muscle Nerve. 2014 Nov 27 2014.
  • Levy RJ, Rios PG, Akman HO, Sciacco M, De Vivo DC, DiMauro S. Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature. J Child Neurol. 29(10):NP105-110, 2014.
  • Montes J, Garber CE, Kramer SS, Montgomery MJ, Dunaway S, Kanmil-Rosenberg SK, Carr B, Stauss NE, Sproule D, De Vivo DC. A Randomized, Controlled Clinical Trial of Exercise in Patients with Spinal Muscular Atrophy: Methods and Baseline Characteristics. Journal of Neuromuscular Diseases. 1(2), 151-161, 2014.
  • De Vivo DC, Darras BT, Ryan MM, Jones HR Jr. Part I, Clinical and Laboratory Approach to the Infant and Child with a Neuromuscular Problem: Introduction: Historical Perspectives. In: Darras BT, Jones HR Jr, Ryan MM, De Vivo DC (eds) Neuromuscular Disorders of Infancy, Childhood and Adolescence: A Clinician's Approach, 2nd Edition, Academic Press, Elsevier, San Diego, CA. Chapter 1: 3-16, 2014.
  • Darras BT, Markowitz JA, Monani UR, De Vivo DC. Part III, Neuromuscular Disorders: Spinal Muscular Atrophies. In: Darras BT, Jones HR Jr, Ryan MM, De Vivo DC (eds) Neuromuscular Disorders of Infancy, Childhood and Adolescence: A Clinician's Approach, 2nd Edition, Academic Press, Elsevier, San Diego, CA. Chapter 8: 117-145, 2014.
  • Mason TBA II, De Vivo DC. Part VI, Myopathies: Myopathies of Systemic Disease. In: Darras BT, Jones HR Jr, Ryan MM, De Vivo DC (eds) Neuromuscular Disorders of Infancy, Childhood and Adolescence: A Clinician's Approach, 2nd Edition, Academic Press, Elsevier, San Diego, CA. Chapter 36: 679- 696, 2014.
  • De Vivo DC, Paradas C, DiMauro S. Part VI, Myopathies: Mitochondrial Encephalomyopathies. In: Darras BT, Jones HR Jr, Ryan MM, De Vivo DC (eds) Neuromuscular Disorders of Infancy, Childhood and Adolescence: A Clinician's Approach, 2nd Edition, Academic Press, Elsevier, San Diego, CA. Chapter 41: 796- 833, 2014.
  • Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connoly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP: Atalauren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve. 50(4):477-87, 2014.
  • Akman CI, Provenzano F, Wang D, Engelstad K, Hinton V, Yu J, Tikofsky R, Ichese M, De Vivo DC: Tomography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency. Epilepsy Res. Vol.110, 206–215, 2015.
  • Wang D, Pascual JM, De Vivo D. Glucose Transporter Type 1 Deficiency Syndrome. 2002 Jul 30 [Updated 2015 Jan 22]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1430/
  • Pascual JM, Wang D, De Vivo DC: Glucose Transporter Type 1 Deficiency Syndrome and Other Flux Disorders. In: Rosenberg R, Pascual JM (eds): Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, 5th Edition. Academic Press, Elsevier, San Diego, CA. Chapter 58:649-662, 2015.
  • Winkler EA, Nishida Y, Sagare AP, Rege SV, Bell RD, Perlmutters D, Sengillo JD, Hillman S, Kong P, Nelson AR, Sullivan JS, Zhao Z, Meiselman HJ, Wenby RB, Soto J, Abel ED, Makshanoff J, Zuniga E, De Vivo DC, Zlokovic BV: GLUT1 reductions exacerbate Alzheimer’s disease vasculo-neuronal dysfunction and degeneration. Nat Neurosci. 18(4):521-30, 2015.
  • Parikh S, Nordli DR, De Vivo DC: Epilepsy in the setting of inherited Metabolic and Mitochondrial Disorders. In: Loddenkemper T (Assoc. Ed) Wyllie’s Treatment of Epilepsy: Principles and Practice, 6th Edition, Wolters Kluwer, Philadelphia, PA. Chap. 31: 388-409, 2015.
  • Mazzone E, Montes J, Main M, Mayhew A, Ramsey D, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, D'Amico A, van den Hauwe M, Sivo S, Goemans N, Darras BT, Kaufmann P, Bertini E, De Vivo DC2 Muntoni F, Finkel R, Mercuri E: Old measures and new scores in SMA patients. Muscle Nerve. 2015 [Epub ahead of print].
  • Montes J, Glanzman AM, Mazzone ES, Martens W, Dunaway S, Pasternak A, Riley S, Quigley J, Pandya S, De Vivo DC, Kaufmann P, Chiriboga CA, Finkel RS, Tennekoon G, Darras BT, Pane M, Mercuri E, McDermott MP, for the PNCR Network, Muscle Study Group, and SMA Europe. SMA Functional Composite Score: A Functional Measure in Spinal Muscular Atrophy. Muscle and Nerve. 2015, in press.
  • Pons R, De Vivo DC: Movement Disorders in Glucose Transporter Type 1 Deficiency. J Pediatr Neurol 2015;13:1–6, in press.
  • Dunaway S, Montes J, Martens W, Neisen A, Glanzmann A, Pasternak A, Riley S, McDermott MP, Sproule S, Chiriboga C, Finkel R, Tennekoon G, Darras B, De Vivo DC, Pandya S: Physical Therapy Services Received by Individuals with Spinal Muscular Atrophy (SMA). 2015, in press.
  • Quinzii C, De Vivo DC, Engelstad K: CoQ10 deficiency is not a common finding in GLUT1 Deficiency Syndrome. Journal of Inherited Metabolic Disease Reports. 2015, in press.
  • Montes J, Kramer S, Dunaway S, Montgomery M, Carr B, Rosenberg SK, Sproule D, Strauss NE, Garber CE, De Vivo DC. Single-Blind, Randomized, Controlled Clinical Trial of Exercise in Ambulatory Spinal Muscular Atrophy: Why are the Results Negative? Journal of Neuromuscular Diseases. 2015, in press.