| Year |
Title |
Altmetric |
| 2019
|
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Human Molecular Genetics.
28:2937-2951.
2019
|
|
| 2019
|
How should we normalize regional volume abnormalities in childhood neurodegenerative disorders?.
Neurology.
92:779-780.
2019
|
|
| 2019
|
Spinal Cord Diffuse Midline Glioma in a 4-Year-Old Boy..
Child Neurology Open.
6:2329048X19842451.
2019
|
|
| 2019
|
Utility and implications of exome sequencing in early-onset Parkinson's disease.
Movement Disorders.
34:133-137.
2019
|
|
| 2018
|
Cannabidiol improves frequency and severity of seizures and reduces adverse events in an open-label add-on prospective study.
Epilepsy and Behavior.
87:131-136.
2018
|
|
| 2018
|
Cannabidiol improves frequency and severity of seizures and reduces adverse events in an open-label add-on prospective study
Pongkiat Kankirawatana, Dr Rani Singh, Professor David G Standaert, Dr Yuliang Liu, Dr Leon Dure, Dr Jennifer DeWollfe, Professor Gary Cutter, Dr Tyler Gaston, Dr Ashley Thomas, Professor E. Martina Bebin, Dr. Lawrence Ver Hoef.
Epilepsy and Behavior.
(in press).
2018
|
|
| 2017
|
A randomized, double-blind, placebo-controlled trial of coenzyme Q10 in Huntington disease.
Neurology.
88:152-159.
2017
|
|
| 2016
|
Physician Communication in Pediatric End-of-Life Care: A Simulation Study.
American Journal of Hospice and Palliative Medicine.
33:935-941.
2016
|
|
| 2016
|
Clinical-genetic associations in the Prospective Huntington at Risk Observational Study (PHAROS) implications for clinical trials.
JAMA Neurology.
73:102-110.
2016
|
|
| 2014
|
Paroxysmal hypnogenic dyskinesia.
Neurology.
82:1935.
2014
|
|
| 2014
|
UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration.
Annals of Neurology.
75:793-798.
2014
|
|
| 2013
|
Seizure occurrence following nonoptimal anticonvulsant medication management during the transition into the hospital.
Journal of Child Neurology.
28:1250-1258.
2013
|
|
| 2013
|
Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.
Controlled Clinical Trials.
35:48-54.
2013
|
|
| 2013
|
Anticonvulsant medication errors in children with epilepsy during the home-to-hospital transition.
Journal of Child Neurology.
28:314-320.
2013
|
|
| 2013
|
Comprehensive behavioral intervention to improve occupational performance in children with tourette disorder.
American Journal of Occupational Therapy.
67:194-200.
2013
|
|
| 2012
|
Females experience a more severe disease course in batten disease.
Journal of Inherited Metabolic Disease.
35:549-555.
2012
|
|
| 2012
|
Pathologic features of dilated cardiomyopathy with localized noncompaction in a child with deletion 1p36 syndrome.
Congenital Heart Disease.
7:59-61.
2012
|
|
| 2011
|
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).
Neurology.
77:1801-1807.
2011
|
|
| 2011
|
Streptococcal upper respiratory tract infections and exacerbations of tic and obsessive-compulsive symptoms: A prospective longitudinal study.
Journal of the American Academy of Child and Adolescent Psychiatry.
50:108-118.e3.
2011
|
|
| 2009
|
Tremor in Childhood.
Seminars in Pediatric Neurology.
16:60-70.
2009
|
|
| 2008
|
A pilot assessment of parental practices and attitudes regarding risk disclosure and clinical research involving children in Huntington disease families.
Genetics in Medicine.
10:811-819.
2008
|
|
| 2008
|
The social psychology of amateur ethicists: Blood product recall notification and the value of reflexivity.
Journal of Medical Ethics.
34:530-533.
2008
|
|
| 2008
|
Randomized controlled trial of ethyl-eicosapentaenoic acid in huntington disease.
Archives of Neurology -Chigago-.
65:1582-1589.
2008
|
|
| 2007
|
Predictors of diagnosis in Huntington disease.
Neurology.
68:1710-1717.
2007
|
|
| 2007
|
Prospective Open-Label Clinical Trial of Trihexyphenidyl in Children With Secondary Dystonia due to Cerebral Palsy.
Journal of Child Neurology.
22:530-537.
2007
|
|
| 2007
|
The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset.
Annals of Human Genetics.
71:295-301.
2007
|
|
| 2007
|
Nutritional vitamin D deficiency presenting as hemichorea.
Journal of Child Neurology.
22:74-76.
2007
|
|
| 2006
|
Early progressive encephalopathy in boys and MECP2 mutations.
Neurology.
67:164-166.
2006
|
|
| 2006
|
Pediatric neurotherapy..
Neurorx.
3:131-132.
2006
|
|
| 2006
|
Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis.
Developmental Medicine and Child Neurology.
48:259-264.
2006
|
|
| 2006
|
Treatment of tics..
Advances in Neurology -New York- Raven Press-.
99:191-196.
2006
|
|
| 2005
|
Atomoxetine treatment in children and adolescents with ADHD and comorbid tic disorders.
Neurology.
65:1941-1949.
2005
|
|
| 2005
|
Regarding “Antibiotic Prophylaxis with Azithromycin or Penicillin for Childhood-Onset Neuropsychiatric Disorders”.
Biological Psychiatry.
58:917-917.
2005
|
|
| 2005
|
Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome.
Science.
310:317-320.
2005
|
|
| 2005
|
A clinical rating scale for Batten disease: Reliable and relevant for clinical trials.
Neurology.
65:275-279.
2005
|
|
| 2005
|
Association between male gender and pediatric essential tremor.
Movement Disorders.
20:904-906.
2005
|
|
| 2005
|
Interrater agreement in the assessment of motor manifestations of Huntington's disease.
Movement Disorders.
20:293-297.
2005
|
|
| 2004
|
Exclusive lower extremity mirror movements and diastematomyelia.
Pediatric Neurosurgery.
40:132-135.
2004
|
|
| 2004
|
Chorea as manifestation of epilepsia partialis continua in a child.
Pediatric Neurology.
31:126-129.
2004
|
|
| 2004
|
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset..
Proceedings of the National Academy of Sciences.
101:3498-3503.
2004
|
|
| 2003
|
Paroxysmal Dyskinesias in Children..
Current Treatment Options in Neurology.
5:275-278.
2003
|
|
| 2003
|
Predictors of nursing home placement in Huntington disease.
Neurology.
60:998-1001.
2003
|
|
| 2003
|
Headache Syndrome [1] (multiple letters).
Ophthalmology: Journal of The American Academy of Ophthalmology.
110:2257.
2003
|
|
| 2003
|
Ophthalmologic involvement in the syndrome of headache, neurologic deficits, and cerebrospinal fluid lymphocytosis.
Ophthalmology: Journal of The American Academy of Ophthalmology.
110:115-118.
2003
|
|
| 2003
|
Tic reduction in Tourette Syndrome: improvement with pergolide in a randomized controlled trial in children.
Neurology.
60:606-611.
2003
|
|
| 2002
|
Clinical and genetic heterogeneity in benign hereditary chorea.
Neurology.
59:579-584.
2002
|
|
| 2002
|
Mutations in TITF-1 are associated with benign hereditary chorea.
Human Molecular Genetics.
11:971-979.
2002
|
|
| 2002
|
Treatment of ADHD in children with tics: A randomized controlled trial.
Neurology.
58:527-536.
2002
|
|
| 2001
|
Essential tremor in childhood: A series of nineteen cases.
Movement Disorders.
16:921-923.
2001
|
|
| 2001
|
Medial medullary injury during adenoidectomy.
Journal of Pediatrics.
138:772-774.
2001
|
|
| 2001
|
The epidemiology of tics and Tourette syndrome in children and adolescents.
Advances in Neurology -New York- Raven Press-.
85:261-271.
2001
|
|
| 2000
|
Mammal-like striatal functions in Anolis. II. Distribution of dopamine D1 and D2 receptors, and a laminar pattern of basal ganglia sub-systems.
Brain, Behavior and Evolution.
56:249-258.
2000
|
|
| 1998
|
Paroxysmal dyskinesia in a patient with pseudohypoparathyroidism..
Movement Disorders.
13:746-748.
1998
|
|
| 1998
|
Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.
Journal of Child Neurology.
13:229-231.
1998
|
|
| 1998
|
The genetic basis of Rett syndrome: Candidate gene considerations.
Molecular Genetics and Metabolism.
64:1-6.
1998
|
|
| 1997
|
Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse.
Cell.
91:753-763.
1997
|
|
| 1997
|
Bobble-head doll syndrome: report of a case and review of the literature..
Movement Disorders.
12:810-814.
1997
|
|
| 1997
|
Central nervous system infection associated with Bartonella quintana: A report of two cases.
Pediatrics.
100:403-408.
1997
|
|
| 1997
|
Is cell death necessary for hippocampal mossy fiber sprouting?.
Epilepsy Research.
27:67-76.
1997
|
|
| 1997
|
Tourette syndrome.
Current Opinion in Neurology.
10:153-159.
1997
|
|
| 1995
|
DNA fragmentation and immediate early gene expression in rat striatum following quinolinic acid administration.
Experimental Neurology.
133:207-214.
1995
|
|
| 1995
|
Huntington's disease gene: Regional and cellular expression in brain of normal and affected individuals.
Annals of Neurology.
37:218-230.
1995
|
|
| 1994
|
IT15 gene expression in fetal human brain..
Brain Research.
659:33-41.
1994
|
|
| 1994
|
Trinucleotide repeats in neurologic diseases: an hypothesis concerning the pathogenesis of Huntington's disease, Kennedy's disease, and spinocerebellar ataxia type I..
Life Sciences.
54:1459-1464.
1994
|
|
| 1993
|
Trinucleotide repeat length instability and age of onset in Huntington's disease.
Nature Genetics.
4:387-392.
1993
|
|
| 1992
|
Compartmentalization of excitatory amino acid receptors in human striatum..
Proceedings of the National Academy of Sciences.
89:7688-7692.
1992
|
|
| 1992
|
Excitatory amino acid binding sites in the basal ganglia of the rat: a quantitative autoradiographic study..
Neuroscience.
46:35-48.
1992
|
|
| 1992
|
Preferential loss of striato‐external pallidal projection neurons in presymptomatic Huntington's disease.
Annals of Neurology.
31:425-430.
1992
|
|
| 1991
|
2,4,5-Trihydroxyphenylalanine (6-hydroxy-DOPA) displaces [3H]AMPA binding in rat striatum.
Neuroscience Letters.
132:55-58.
1991
|
|
| 1991
|
Excitatory amino acidergic pathways and receptors in the basal ganglia..
Amino Acids.
1:339-350.
1991
|
|
| 1991
|
Excitatory amino acid binding sites in the caudate nucleus and frontal cortex of huntington's disease.
Annals of Neurology.
30:785-793.
1991
|
|
| 1990
|
Excitatory amino acid binding sites in the periaqueductal gray of the rat..
Neuroscience Letters.
118:112-115.
1990
|
|
| 1989
|
Chiari type I malformation in children.
Journal of Pediatrics.
115:573-576.
1989
|
|
| 1985
|
Ribavirin small-particle aerosol treatment of infections caused by influenza virus strains A/Victoria/7/83 (H1N1) and B/Texas/1/84..
Antimicrobial Agents and Chemotherapy.
27:309-313.
1985
|
|
| 1980
|
Covalent attachment of a progestational steroid to chick oviduct progesterone receptor by photoaffinity labelling.
Nature.
283:784-786.
1980
|
|
| |
Child Neurology: Arterial ischemic stroke in a 12-year-old patient with cardiac myxomas.
Neurology.
|
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