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Classification and Natural History of the Neuronal Ceroid Lipofuscinoses
The neuronal ceroid lipofuscinoses represent a group of disorders characterized by neurodegeneration and intracellular accumulation of an auto-fluorescent lipopigment (ceroid lipofuscin). Together,Expand
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Parent‐reported multi‐national study of the impact of congenital and childhood onset myotonic dystrophy
The frequency and impact of symptoms experienced by patients with congenital, childhood, and juvenile‐onset myotonic dystrophy (CDM/ChDM/JDM) is not documented. This report identifies symptomaticExpand
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Neurocognitive Alterations in Hypertensive Children and Adolescents
J Clin Hypertens (Greenwich). 2012; 14:353–359. ©2012 Wiley Periodicals, Inc.
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Clinical Trials in Rare Disease
The neuronal ceroid lipofuscinoses constitute one of many groups of rare childhood diseases for which disease-modifying treatments are nonexistent. Disease-specific barriers to therapeutic successExpand
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Females experience a more severe disease course in batten disease
Juvenile neuronal ceroid lipofuscinosis (JNCL; CLN3 disease; Batten disease) is an autosomal recessive neurodegenerative disease of childhood. Symptoms typically present at school age with visionExpand
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Learning and Attention Problems Among Children With Pediatric Primary Hypertension
OBJECTIVE: The objective was to determine whether children with sustained primary hypertension are at increased risk for learning disabilities (LDs), as a school-related manifestation ofExpand
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Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis
To evaluate seizure phenomenology, treatment, and course in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL).
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Oral ketamine for children with chronic pain: a pilot phase 1 study.
OBJECTIVE To assess whether oral ketamine is safe at higher dosages for sedating children and whether it may be an option for the control of chronic pain in children. STUDY DESIGN A prospectiveExpand
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  • Open Access
Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis
We obtained information about the behavioral, psychiatric, and functional status of 26 children (13 males, 13 females) with juvenile neuronal ceroid lipofuscinosis (JNCL; mean age 12y 3mo [SD 3yExpand
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Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Aim  The primary aim of this investigation was to examine genotype and clinical phenotype differences in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL) who were homozygous for aExpand
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