Publications by authors named "Darryl C De Vivo"

100Publications

Age and baseline values predict 12 and 24-month functional changes in type 2 SMA.

Neuromuscul Disord 2020 Sep 25;30(9):756-764. Epub 2020 Jul 25.

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2020.07.005DOI Listing
September 2020

Criss-cross gait: A clue to glucose transporter type 1 deficiency syndrome.

Neurology 2020 09 4;95(11):500-501. Epub 2020 Aug 4.

From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000010502DOI Listing
September 2020

Limitations of 6-minute walk test reference values for spinal muscular atrophy.

Muscle Nerve 2020 03 16;61(3):375-382. Epub 2020 Jan 16.

Department of Rehabilitation and Regenerative Medicine, Program in Physical Therapy, Columbia University Irving Medical Center, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.26794DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7024648PMC
March 2020

Therapeutic strategies for glucose transporter 1 deficiency syndrome.

Ann Clin Transl Neurol 2019 09 28;6(9):1923-1932. Epub 2019 Aug 28.

Department of Pathology & Cell Biology, Columbia University Medical Center, New York, New York, 10032.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.50881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764625PMC
September 2019

Exploring mTOR inhibition as treatment for mitochondrial disease.

Ann Clin Transl Neurol 2019 09 6;6(9):1877-1881. Epub 2019 Aug 6.

Department of Neurology, Columbia University Irving Medical Center, New York, New York, 10032.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/acn3.50846
Publisher Site
http://dx.doi.org/10.1002/acn3.50846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764630PMC
September 2019

Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies.

Neurology 2019 05 24;92(21):e2492-e2506. Epub 2019 Apr 24.

From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541434PMC
May 2019

Perceived Fatigue in Spinal Muscular Atrophy: A Pilot Study.

J Neuromuscul Dis 2019;6(1):109-117

Department of Neurology, Columbia University Medical Center, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JND-180342DOI Listing
January 2020

Precious SMA natural history data: A benchmark to measure future treatment successes.

Neurology 2018 08 25;91(8):337-339. Epub 2018 Jul 25.

From the Department of Neurology (B.T.D.), Neuromuscular Program, Boston Children's Hospital, and Harvard Medical School, Boston, MA; and Pediatric Neurology Service at Columbia University Irving Medical Center (D.C.D.), New York, NY.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000006026DOI Listing
August 2018

Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function.

Pediatr Phys Ther 2018 07;30(3):209-215

Departments of Neurology (Drs Salazar, Montes, Young, Chiriboga, and De Vivo) and Rehabilitation and Regenerative Medicine (Drs Montes and Young), Columbia University Medical Center, New York, New York; Departments of Biostatistics and Computational Biology (Dr McDermott) and Neurology (Mr Martens and Dr McDermott), University of Rochester, Rochester, New York; Departments of Neurology (Dr Darras) and Physical Therapy and Occupational Therapy Services (Drs Pasternak and Mirek and Ms Quigley), Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Division of Neurology (Dr Tennekoon) and Department of Physical Therapy (Dr Glanzman), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology (Mr Civitello and Dr Finkel), Nemours Children's Hospital, Orlando, Florida; Department of Neurology (Mr Gee, Ms Duong, and Dr Day), Stanford University School of Medicine, Palo Alto, California; Department of Paediatric Neurology (Mss Mazzone, Coratti, and Fanelli, Messrs De Sanctis and Forcina, and Dr Mercuri), Catholic University, Rome, Italy; Dubowitz Neuromuscular Centre (Mss Main and Ramsey and Drs Scoto and Muntoni), UCL Great Ormond Street Institute of Child Health, London, United Kingdom; John Walton Muscular Dystrophy Research Centre (Dr Mayhew and Mr Muni Lofra), Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom.

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00001577-201807000-0001
Publisher Site
http://dx.doi.org/10.1097/PEP.0000000000000515DOI Listing
July 2018

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

N Engl J Med 2018 02;378(7):625-635

From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1710504DOI Listing
February 2018

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

N Engl J Med 2017 11;377(18):1723-1732

From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).

View Article

Download full-text PDF

Source
http://www.nejm.org/doi/10.1056/NEJMoa1702752
Publisher Site
http://dx.doi.org/10.1056/NEJMoa1702752DOI Listing
November 2017

A De Novo Mutation in Causes Generalized Dystonia in 2 Unrelated Children.

Child Neurol Open 2016 Jan-Dec;3:2329048X15627937. Epub 2016 Apr 4.

Department of Neurology, Columbia University Medical Center, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/2329048X15627937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417276PMC
April 2016

Paroxysmal eye-head movements in Glut1 deficiency syndrome.

Neurology 2017 Apr 24;88(17):1666-1673. Epub 2017 Mar 24.

From the Colleen Giblin Research Laboratory (K.E., D.C.D.), Division of Pediatric Neurology, Department of Neurology (T.S.P., R.P.), Department of Ophthalmology, Edward S. Harkness Eye Institute (S.A.K.), Mahoney-Keck Center for Brain and Behavior Research (M.E.G.), Department of Neuroscience (M.E.G.), and the Departments of Neurology, Psychiatry, and Ophthalmology (M.E.G.), Columbia University College of Physicians and Surgeons, New York, NY; Department of Neurology (T.S.P.), Washington University School of Medicine, St. Louis, MO; First Department of Pediatrics (R.P.), National and Kapodistrian University of Athens, Aghia Sofia Hospital, Greece; Kavli Institute for Neuroscience (M.E.G.), Columbia University; and the Division of Neurobiology and Behavior (M.E.G.), New York State Psychiatric Institute, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000003867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5405761PMC
April 2017

Gait assessment with solesound instrumented footwear in spinal muscular atrophy.

Muscle Nerve 2017 08 15;56(2):230-236. Epub 2017 Feb 15.

Department of Rehabilitation and Regenerative Medicine, Columbia University, New York, New York, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.25484DOI Listing
August 2017

Six-minute walk test is reliable and valid in spinal muscular atrophy.

Muscle Nerve 2016 11 13;54(5):836-842. Epub 2016 May 13.

Department of Neurology, Columbia University Medical Center, New York, New York, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.25120DOI Listing
November 2016

N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase.

Neurobiol Dis 2016 Dec 4;96:323-334. Epub 2016 Oct 4.

Department of Cell Biology, Cell & Gene Therapy Center, Rowan School of Osteopathic Medicine, Stratford, NJ, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nbd.2016.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102763PMC
December 2016

Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome.

J Child Neurol 2016 11 10;31(13):1483-1488. Epub 2016 Aug 10.

Department of Neurology, Columbia University Medical Center, New York, NY, USA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073816661662DOI Listing
November 2016

Maternal Calorie Restriction Causing Uteroplacental Insufficiency Differentially Affects Mammalian Placental Glucose and Leucine Transport Molecular Mechanisms.

Endocrinology 2016 Oct 5;157(10):4041-4054. Epub 2016 Aug 5.

Department of Pediatrics (A.G., M.T., S.T., S.U.D.), Division of Neonatology and Developmental Biology, and Neonatal Research Center at the UCLA Children's Discovery and Innovation Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California 90095; and Department of Neurology (D.C.D.V.), Columbia University College of Physicians and Surgeons, New York, New York 10032.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/en.2016-1259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045505PMC
October 2016

Disruption of Glut1 in Hematopoietic Stem Cells Prevents Myelopoiesis and Enhanced Glucose Flux in Atheromatous Plaques of ApoE(-/-) Mice.

Circ Res 2016 Apr 29;118(7):1062-77. Epub 2016 Feb 29.

From the Institut National de la Santé et de la Recherche Médicale (INSERM) U1065, Centre Méditerranéen de Médecine Moléculaire (C3M), Nice, France (V.S., M.V., S.I., S.G.-P., R.G., L.Y.-C.); Division of Molecular Medicine, Department of Medicine (M.W.) and Department of Neurology (D.C.D.V.), Columbia University, New York, NY; Institut National de la Santé et de la Recherche Médicale (INSERM) UMR_S 1166, Hôpital de la Pitié, Paris, France (E.L.G.); Pierre & Marie Curie University, Université Paris 06, Paris, France (E.L.G.); Institute of Cardiometabolism and Nutrition (ICAN), Boulevard de l'Hôpital, Paris, France (E.L.G.); and Department of Pathology, Northwestern University, Feinberg School of Medicine, Chicago, IL (E.B.T.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCRESAHA.115.307599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824305PMC
April 2016

Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy.

Neurology 2016 Mar 10;86(10):890-7. Epub 2016 Feb 10.

From the Departments of Neurology (C.A.C., J.M., D.C.D.) and Rehabilitative and Regenerative Medicine (J.M.), Columbia University, New York, NY; Department of Neurology (K.J.S.), University of Utah, Salt Lake City; Department of Neurology (B.T.D.), Boston Children's Hospital, Boston, MA; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical School, Dallas; and Ionis Pharmaceuticals, Inc. (formerly Isis Pharmaceuticals, Inc.) (D.A.N., C.F.B., K.M.B.), Carlsbad, CA.

View Article

Download full-text PDF

Source
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000002445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782111PMC
March 2016

Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment.

J Pediatr 2016 Apr 22;171:220-6. Epub 2016 Jan 22.

Division of Pediatric Neurology, Department of Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician and Surgeons, New York, NY. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2015.12.030DOI Listing
April 2016

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options.

Pediatr Neurol 2016 Mar 19;56:59-61. Epub 2015 Dec 19.

Department of Neurology, Columbia University Medical Center, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2015.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789111PMC
March 2016

CoQ Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.

JIMD Rep 2016 29;29:47-52. Epub 2015 Nov 29.

Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, 710 West 168th Street, New York, NY, 10032, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2F8904_2015_493
Web Search
http://link.springer.com/10.1007/8904_2015_493
Publisher Site
http://dx.doi.org/10.1007/8904_2015_493DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059199PMC
November 2015

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Neuron 2015 Nov;88(3):499-513

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08966273150083
Publisher Site
http://dx.doi.org/10.1016/j.neuron.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824012PMC
November 2015

Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency.

Epilepsy Res 2015 Feb 11;110:206-15. Epub 2014 Dec 11.

Department of Neurology, Division of Pediatric Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician & Surgeons, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2014.11.007DOI Listing
February 2015

Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.

Muscle Nerve 2015 May 17;51(5):767-72. Epub 2015 Feb 17.

Department of Neurology, Columbia University, 180 Fort Washington Avenue, New York, New York, 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.24528DOI Listing
May 2015

Observational study of spinal muscular atrophy type I and implications for clinical trials.

Neurology 2014 Aug 30;83(9):810-7. Epub 2014 Jul 30.

From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000000741DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155049PMC
August 2014

Reply: To PMID 23893312.

Muscle Nerve 2014 Sep 5;50(3):458-9. Epub 2014 Aug 5.

Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, Florida, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.24317DOI Listing
September 2014

Neurodegeneration in spinal muscular atrophy: from disease phenotype and animal models to therapeutic strategies and beyond.

Future Neurol 2014 Jan;9(1):49-65

Department of Neurology, 630 West 168th Street, Columbia University Medical Center, New York, NY 10032, USA ; Center for Motor Neuron Biology & Disease, 630 West 168th Street, Columbia University Medical Center, New York, NY 10032, USA ; Department of Pediatrics, 630 West 168th Street, Columbia University Medical Center, New York, NY 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2217/fnl.13.58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3955729PMC
January 2014

Performance of the timed "up & go" test in spinal muscular atrophy.

Muscle Nerve 2014 Aug 12;50(2):273-7. Epub 2014 May 12.

Department of Neurology, Columbia University Medical Center, 180 Fort Washington Avenue, 5th Floor, New York, New York, 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.24153DOI Listing
August 2014

Leg muscle function and fatigue during walking in spinal muscular atrophy type 3.

Muscle Nerve 2014 Jul 5;50(1):34-9. Epub 2014 May 5.

Department of Neurology, Columbia University, 180 Fort Washington Avenue, 5th Floor, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.24081DOI Listing
July 2014

The motor neuron response to SMN1 deficiency in spinal muscular atrophy.

Muscle Nerve 2014 May;49(5):636-44

Department of Neurology, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.23967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090017PMC
May 2014

Weakness and fatigue in diverse neuromuscular diseases.

J Child Neurol 2013 Oct 11;28(10):1277-83. Epub 2013 Jul 11.

1Department of Neurology, Columbia University Medical Center, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073813493663DOI Listing
October 2013

Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

Curr Neurol Neurosci Rep 2013 Apr;13(4):342

Department of Neurology, Columbia University, 710 west 168th Street, New York, NY 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11910-013-0342-7DOI Listing
April 2013

Falls and spinal muscular atrophy: exploring cause and prevention.

Muscle Nerve 2013 Jan 5;47(1):118-23. Epub 2012 Oct 5.

Department of Neurology, Columbia University Medical Center, 180 Ft. Washington Avenue, Fifth Floor, New York, New York 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.23656DOI Listing
January 2013

First report of glucose transporter 1 deficiency syndrome in Korea with a novel splice site mutation.

Gene 2012 Sep 17;506(2):380-2. Epub 2012 Jul 17.

Department of Pediatrics, Hallym University College of Medicine, Seoul, Republic of Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2012.06.095DOI Listing
September 2012

Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes.

Epilepsia 2012 Sep 19;53(9):1503-10. Epub 2012 Jul 19.

Neurological Institute, Columbia University, New York, New York, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2012.03592.xDOI Listing
September 2012

Independent mobility after early introduction of a power wheelchair in spinal muscular atrophy.

J Child Neurol 2013 May 6;28(5):576-82. Epub 2012 Jul 6.

Neurology Department, Columbia University Medical Center, New York, NY 10032, USA.

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/0883073812449383
Publisher Site
http://dx.doi.org/10.1177/0883073812449383DOI Listing
May 2013

Valproic acid enhances glucose transport in the cultured brain astrocytes of glucose transporter 1 heterozygous mice.

J Child Neurol 2013 Jan 24;28(1):70-6. Epub 2012 Apr 24.

Department of Pediatrics, Hallym University College of Medicine, Seoul, Republic of Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073812440044DOI Listing
January 2013

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 2012 Jul 30;27(7):845-51. Epub 2012 Mar 30.

Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032-3791, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073811415680DOI Listing
July 2012

Glut1 deficiency syndrome and erythrocyte glucose uptake assay.

Ann Neurol 2011 Dec;70(6):996-1005

Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, New York, NY 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.22640DOI Listing
December 2011

Spinal muscular atrophy type III: trying to understand subtle functional change over time--a case report.

J Child Neurol 2012 Jun 7;27(6):779-85. Epub 2011 Dec 7.

SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032, USA.

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/0883073811425423
Publisher Site
http://dx.doi.org/10.1177/0883073811425423DOI Listing
June 2012

Thigh muscle volume measured by magnetic resonance imaging is stable over a 6-month interval in spinal muscular atrophy.

J Child Neurol 2011 Oct 13;26(10):1252-9. Epub 2011 May 13.

Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032-3791, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073811405053DOI Listing
October 2011

Fatigue leads to gait changes in spinal muscular atrophy.

Muscle Nerve 2011 Apr;43(4):485-8

Department of Neurology, Columbia University Medical Center, 180 Ft. Washington Avenue, Fifth Floor, New York, New York 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.21917DOI Listing
April 2011

Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy.

J Child Neurol 2011 Mar 6;26(3):309-17. Epub 2010 Oct 6.

Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, New York 10032-3791, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073810380457DOI Listing
March 2011

Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.

Arch Neurol 2010 Aug;67(8):976-9

Department of Neurology, Columbia University, 710 W 168th St, New York, NY 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneurol.2010.174DOI Listing
August 2010

Glut1 deficiency: inheritance pattern determined by haploinsufficiency.

Ann Neurol 2010 Dec;68(6):955-8

Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.22088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994988PMC
December 2010

T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake.

Brain Dev 2011 Apr 13;33(4):316-20. Epub 2010 Jul 13.

Department of Pediatrics, Shiga Medical Center for Children, 5-7-30 Moriyama, Shiga, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2010.06.012DOI Listing
April 2011

Bioelectrical impedance analysis can be a useful screen for excess adiposity in spinal muscular atrophy.

J Child Neurol 2010 Nov 13;25(11):1348-54. Epub 2010 Apr 13.

Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, New York 10032-3791, USA.

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/0883073810365185
Publisher Site
http://dx.doi.org/10.1177/0883073810365185DOI Listing
November 2010

Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis.

Mol Genet Metab 2010 Jun 17;100(2):129-35. Epub 2010 Mar 17.

Department of Pathology and Cell Biology, College of Physicians and Surgeons of Columbia University, New York, NY 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2010.03.007DOI Listing
June 2010

Childhood absence epilepsy as a manifestation of GLUT1 deficiency.

Ann Neurol 2010 Feb;67(2):272-3; author reply 273

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ana.21963
Publisher Site
http://dx.doi.org/10.1002/ana.21963DOI Listing
February 2010

Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency.

Ann Neurol 2010 Jan;67(1):31-40

Department of Neurology, Baylor College of Medicine, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.21797DOI Listing
January 2010

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 2010 Feb;25(2):250-3

Child Neurology Award Fund Committee, Child Neurology Society, St Paul, Minnesota 55126, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073809359936DOI Listing
February 2010

The spectrum of movement disorders in Glut-1 deficiency.

Mov Disord 2010 Feb;25(3):275-81

Agia Sofia Hospital, First Department of Pediatrics, University of Athens, Athens, Greece.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.22808DOI Listing
February 2010

Design and evaluation of a hybrid passive and active gravity neutral orthosis (GNO).

Annu Int Conf IEEE Eng Med Biol Soc 2009 ;2009:1573-6

Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032 USA.

View Article

Download full-text PDF

Source
http://ieeexplore.ieee.org/document/5332578/
Publisher Site
http://dx.doi.org/10.1109/IEMBS.2009.5332578DOI Listing
March 2010

Association of autistic spectrum disorders with dystrophinopathies.

Pediatr Neurol 2009 Nov;41(5):339-46

Gertrude H. Sergievsky Center, Columbia University, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2009.05.011DOI Listing
November 2009

Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis.

Neurobiol Dis 2009 Oct 8;36(1):60-9. Epub 2009 Jul 8.

Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nbd.2009.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2929707PMC
October 2009