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Tytuł :
Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome.
Autorzy :
Blumenschine M; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Montes J; Department of Neurology, Columbia University Medical Center, New York, NY, USA Department of Rehabilitation Medicine, Columbia University Medical Center, New York, NY, USA.
Rao AK; Department of Rehabilitation Medicine, Columbia University Medical Center, New York, NY, USA.
Engelstad K; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
De Vivo DC; Department of Neurology, Columbia University Medical Center, New York, NY, USA .
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Źródło :
Journal of child neurology [J Child Neurol] 2016 Nov; Vol. 31 (13), pp. 1483-1488. Date of Electronic Publication: 2016 Aug 10.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gait*/physiology
Carbohydrate Metabolism, Inborn Errors/*diagnosis
Carbohydrate Metabolism, Inborn Errors/*physiopathology
Monosaccharide Transport Proteins/*deficiency
Adolescent ; Biomechanical Phenomena ; Exercise Test ; Fatigue/diagnosis ; Fatigue/physiopathology ; Humans ; Male ; Severity of Illness Index ; Surveys and Questionnaires ; Young Adult
SCR Disease Name :
Glut1 Deficiency Syndrome
Czasopismo naukowe
Tytuł :
Long-term clinical course of Glut1 deficiency syndrome.
Autorzy :
Alter AS; Department of Neurology, Columbia University, New York, NY, USA.
Engelstad K; Department of Neurology, Columbia University, New York, NY, USA.
Hinton VJ; Department of Neurology, Columbia University, New York, NY, USA Gertrude Sergievsky Center, Columbia University, New York, NY, USA.
Montes J; Department of Neurology, Columbia University, New York, NY, USA.
Pearson TS; Department of Neurology, Columbia University, New York, NY, USA.
Akman CI; Department of Neurology, Columbia University, New York, NY, USA.
De Vivo DC; Department of Neurology, Columbia University, New York, NY, USA .
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Źródło :
Journal of child neurology [J Child Neurol] 2015 Feb; Vol. 30 (2), pp. 160-9. Date of Electronic Publication: 2014 Apr 30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Carbohydrate Metabolism, Inborn Errors/*complications
Carbohydrate Metabolism, Inborn Errors/*diagnosis
Epilepsy/*etiology
Monosaccharide Transport Proteins/*deficiency
Movement Disorders/*etiology
Adaptation, Psychological/physiology ; Adolescent ; Carbohydrate Metabolism, Inborn Errors/diet therapy ; Carbohydrate Metabolism, Inborn Errors/genetics ; Child ; Diet, Ketogenic/methods ; Female ; Gait ; Humans ; Male ; Monosaccharide Transport Proteins/genetics ; Neurologic Examination ; Neuropsychological Tests ; Surveys and Questionnaires ; Young Adult
SCR Disease Name :
Glut1 Deficiency Syndrome
Czasopismo naukowe
Tytuł :
Weakness and fatigue in diverse neuromuscular diseases.
Autorzy :
Montes J; 1Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Blumenschine M
Dunaway S
Alter AS
Engelstad K
Rao AK
Chiriboga CA
Sproule DM
De Vivo DC
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Źródło :
Journal of child neurology [J Child Neurol] 2013 Oct; Vol. 28 (10), pp. 1277-83. Date of Electronic Publication: 2013 Jul 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Fatigue/*diagnosis
Muscle Weakness/*diagnosis
Neuromuscular Diseases/*complications
Adolescent ; Adult ; Child ; Child, Preschool ; Exercise Test ; Fatigue/complications ; Fatigue/physiopathology ; Female ; Humans ; Male ; Middle Aged ; Muscle Weakness/complications ; Muscle Weakness/physiopathology ; Neuromuscular Diseases/physiopathology
Czasopismo naukowe
Tytuł :
Valproic acid enhances glucose transport in the cultured brain astrocytes of glucose transporter 1 heterozygous mice.
Autorzy :
Kim SK; Department of Pediatrics, Hallym University College of Medicine, Seoul, Republic of Korea.
Yang H
Pascual JM
De Vivo DC
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Źródło :
Journal of child neurology [J Child Neurol] 2013 Jan; Vol. 28 (1), pp. 70-6. Date of Electronic Publication: 2012 Apr 24.
Typ publikacji :
Journal Article
MeSH Terms :
Anticonvulsants/*pharmacology
Astrocytes/*drug effects
Brain/*cytology
Glucose Transporter Type 1/*genetics
Glucose Transporter Type 1/*metabolism
Valproic Acid/*pharmacology
Animals ; Animals, Newborn ; Astrocytes/metabolism ; Carbon Isotopes/metabolism ; Cells, Cultured ; Deoxyglucose/metabolism ; Dose-Response Relationship, Drug ; Glucose/metabolism ; Mice ; Mice, Transgenic ; Protein Transport/drug effects ; Protein Transport/genetics ; Time Factors
Czasopismo naukowe
Tytuł :
Age at disease onset predicts likelihood and rapidity of growth failure among infants and young children with spinal muscular atrophy types 1 and 2.
Autorzy :
Sproule DM; Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032-3791, USA.
Hasnain R
Koenigsberger D
Montgomery M
De Vivo DC
Kaufmann P
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Źródło :
Journal of child neurology [J Child Neurol] 2012 Jul; Vol. 27 (7), pp. 845-51. Date of Electronic Publication: 2012 Mar 30.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Developmental Disabilities/*diagnosis
Developmental Disabilities/*etiology
Spinal Muscular Atrophies of Childhood/*complications
Age of Onset ; Anthropometry ; Child, Preschool ; Cohort Studies ; Developmental Disabilities/mortality ; Female ; Humans ; Infant ; Infant, Newborn ; Kaplan-Meier Estimate ; Likelihood Functions ; Male ; Predictive Value of Tests ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Spinal muscular atrophy type III: trying to understand subtle functional change over time--a case report.
Autorzy :
Dunaway S; SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032, USA. />Montes J
Ryan PA
Montgomery M
Sproule DM
De Vivo DC
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Źródło :
Journal of child neurology [J Child Neurol] 2012 Jun; Vol. 27 (6), pp. 779-85. Date of Electronic Publication: 2011 Dec 07.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Motor Activity/*physiology
Muscle Strength/*physiology
Recovery of Function/*physiology
Spinal Muscular Atrophies of Childhood/*physiopathology
Anticonvulsants/therapeutic use ; Child ; Early Intervention, Educational ; Exhalation/physiology ; Female ; Humans ; Longitudinal Studies ; Outcome Assessment, Health Care ; Spinal Muscular Atrophies of Childhood/diagnosis ; Spinal Muscular Atrophies of Childhood/therapy ; Valproic Acid/therapeutic use ; Walking/physiology
Czasopismo naukowe
Tytuł :
Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III.
Autorzy :
Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. />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
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Corporate Authors :
Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR)
Muscle Study Group (MSG)
Źródło :
Journal of child neurology [J Child Neurol] 2011 Dec; Vol. 26 (12), pp. 1499-507. Date of Electronic Publication: 2011 Sep 21.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Disability Evaluation*
Motor Activity/*physiology
Spinal Muscular Atrophies of Childhood/*diagnosis
Spinal Muscular Atrophies of Childhood/*physiopathology
Aged ; Aged, 80 and over ; Female ; Humans ; Knee/physiopathology ; Male ; Middle Aged ; Predictive Value of Tests ; Prospective Studies ; Reproducibility of Results ; Statistics, Nonparametric ; Vital Capacity/physiology
Czasopismo naukowe
Tytuł :
Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy.
Autorzy :
Sproule DM; Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, New York 10032-3791, USA. />Punyanitya M
Shen W
Dashnaw S
Martens B
Montgomery M
Montes J
Battista V
Finkel R
Darras B
De Vivo DC
Kaufmann P
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Źródło :
Journal of child neurology [J Child Neurol] 2011 Mar; Vol. 26 (3), pp. 309-17. Date of Electronic Publication: 2010 Oct 06.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Magnetic Resonance Imaging/*methods
Muscle, Skeletal/*pathology
Muscular Atrophy, Spinal/*pathology
Absorptiometry, Photon/methods ; Action Potentials/physiology ; Adolescent ; Adult ; Anthropometry ; Child ; Cohort Studies ; Electromyography/methods ; Female ; Functional Laterality ; Humans ; Male ; Middle Aged ; Movement/physiology ; Muscle Strength/physiology ; Muscle, Skeletal/physiopathology ; Muscular Atrophy, Spinal/classification ; Muscular Atrophy, Spinal/physiopathology ; Neurologic Examination ; Reproducibility of Results ; Statistics as Topic ; Young Adult
Czasopismo naukowe
Tytuł :
Bioelectrical impedance analysis can be a useful screen for excess adiposity in spinal muscular atrophy.
Autorzy :
Sproule DM; Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, New York 10032-3791, USA. />Montes J
Dunaway SL
Montgomery M
Battista V
Shen W
Punyanitya M
De Vivo DC
Kaufmann P
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Źródło :
Journal of child neurology [J Child Neurol] 2010 Nov; Vol. 25 (11), pp. 1348-54. Date of Electronic Publication: 2010 Apr 13.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Adiposity*
Muscular Atrophy, Spinal/*complications
Overweight/*diagnosis
Absorptiometry, Photon ; Adolescent ; Adult ; Child ; Child, Preschool ; Electric Impedance ; Female ; Humans ; Male ; Middle Aged ; Overweight/complications ; Sensitivity and Specificity
Czasopismo naukowe
Tytuł :
Honoring a giant in child neurology ... Help find and fund new ones: contributing to the Philip R. Dodge Young Investigator Award endowment fund.
Autorzy :
De Vivo DC; Child Neurology Award Fund Committee, Child Neurology Society, St Paul, Minnesota 55126, USA. />Fishman MA
Johnsen SD
Prensky AL
Volpe JJ
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Źródło :
Journal of child neurology [J Child Neurol] 2010 Feb; Vol. 25 (2), pp. 250-3.
Typ publikacji :
Journal Article
MeSH Terms :
Awards and Prizes*
Neurology*
Pediatrics*
Child ; Humans
Czasopismo naukowe
Tytuł :
Clinical outcome measures in spinal muscular atrophy.
Autorzy :
Montes J; Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA. />Gordon AM
Pandya S
De Vivo DC
Kaufmann P
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Źródło :
Journal of child neurology [J Child Neurol] 2009 Aug; Vol. 24 (8), pp. 968-78. Date of Electronic Publication: 2009 Jun 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Treatment Outcome*
Spinal Muscular Atrophies of Childhood/*physiopathology
Spinal Muscular Atrophies of Childhood/*therapy
Adolescent ; Adult ; Child ; Child, Preschool ; Evidence-Based Medicine ; Humans ; Infant ; Motor Activity ; Quality of Life ; Respiratory Function Tests ; Severity of Illness Index ; Young Adult
Czasopismo naukowe
Tytuł :
Glucose transporter 1 deficiency syndrome and other glycolytic defects.
Autorzy :
De Vivo DC; Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA. />Leary L
Wang D
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Źródło :
Journal of child neurology [J Child Neurol] 2002 Dec; Vol. 17 Suppl 3, pp. 3S15-23; discussion 3S24-5.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review
MeSH Terms :
Brain Diseases, Metabolic, Inborn/*genetics
Monosaccharide Transport Proteins/*deficiency
Brain Diseases, Metabolic, Inborn/complications ; Brain Diseases, Metabolic, Inborn/diet therapy ; Child ; Electroencephalography ; Energy Metabolism ; Female ; Glucose Transporter Type 1 ; Glycolysis ; Humans ; Monosaccharide Transport Proteins/genetics ; Mutation ; Seizures/diagnosis ; Seizures/etiology ; Syndrome
Czasopismo naukowe
Tytuł :
Mitochondrial disorders.
Autorzy :
DiMauro S; Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA. />Andreu AL
De Vivo DC
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Źródło :
Journal of child neurology [J Child Neurol] 2002 Dec; Vol. 17 Suppl 3, pp. 3S35-45; discussion 3S46-7.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review
MeSH Terms :
Epilepsy/*etiology
Leigh Disease/*genetics
Cell Nucleus/genetics ; DNA, Mitochondrial/genetics ; Epilepsy/classification ; Humans ; Infant ; Leigh Disease/complications ; Mutation
Czasopismo naukowe
Tytuł :
Classification of infantile seizures: implications for identification and treatment of inborn errors of metabolism.
Autorzy :
Nordli DR Jr; Department of Pediatrics, Lorna S. and James P. Langdon Chair of Pediatric Epilepsy, Children's Memorial Hospital, Northwestern University, Chicago, Illinois 60614-3394, USA. />De Vivo DC
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Źródło :
Journal of child neurology [J Child Neurol] 2002 Dec; Vol. 17 Suppl 3, pp. 3S3-7; discussion 3S8.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Metabolism, Inborn Errors/*diagnosis
Metabolism, Inborn Errors/*therapy
Seizures/*classification
Seizures/*etiology
Electroencephalography ; Humans ; Infant ; Infant, Newborn ; Metabolism, Inborn Errors/complications ; Seizures/physiopathology ; Syndrome
Czasopismo naukowe
Tytuł :
Does the patient have a mitochondrial encephalomyopathy?
Autorzy :
DiMauro S; Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA. />Bonilla E
De Vivo DC
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Źródło :
Journal of child neurology [J Child Neurol] 1999 Nov; Vol. 14 Suppl 1, pp. S23-35.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Mitochondrial Encephalomyopathies/*diagnosis
DNA Mutational Analysis ; DNA, Mitochondrial/analysis ; DNA, Mitochondrial/genetics ; Diagnosis, Differential ; Electron Transport/physiology ; Humans ; Lactic Acid/blood ; Mitochondria/genetics ; Mitochondria/metabolism ; Mitochondrial Encephalomyopathies/genetics ; Mitochondrial Encephalomyopathies/metabolism ; Muscle, Skeletal/pathology ; Muscle, Skeletal/physiopathology ; Mutation ; Neuroradiography/methods
Czasopismo naukowe
Tytuł :
Postinflammatory hydrocephalus and intracranial mass lesion from Candida in an immunocompetent child.
Autorzy :
Mason TB 2nd; Pediatric Neurology Division, Columbia-Presbyterian Medical Center, New York, New York, USA.
Chiriboga CA
Cargan AL
Hauger SB
La Russa PS
Glick RS
Carmel PW
Khandji AG
De Vivo DC
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Źródło :
Journal of child neurology [J Child Neurol] 1996 Jul; Vol. 11 (4), pp. 336-41.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Brain/*diagnostic imaging
Candidiasis/*complications
Candidiasis/*diagnostic imaging
Hydrocephalus/*diagnostic imaging
Hydrocephalus/*etiology
Antifungal Agents/therapeutic use ; Brain/microbiology ; Brain/surgery ; Candidiasis/microbiology ; Humans ; Hydrocephalus/therapy ; Infant ; Male ; Tomography, X-Ray Computed
Czasopismo naukowe
Tytuł :
Primary and secondary carnitine deficiency syndromes.
Autorzy :
Pons R; Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia-Presbyterian Medical Center, New York, NY, USA.
De Vivo DC
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Źródło :
Journal of child neurology [J Child Neurol] 1995 Nov; Vol. 10 Suppl 2, pp. S8-24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Carnitine/*metabolism
Vitamin B Deficiency/*metabolism
Animals ; Enzyme Activation ; Fatty Acids/metabolism ; Humans ; Mitochondria/metabolism ; Risk Factors
Czasopismo naukowe

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