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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

Molecular genetics and metabolism, 2010, Vol.100 (Suppl 1), p.S97-S105

2010

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Age-Dependent Neuronal and Synaptic Degeneration in Mice Transgenic for the C Terminus of the Amyloid Precursor Protein

The Journal of neuroscience, 1996-11, Vol.16 (21), p.6732-6741

1996

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A longitudinal study of urea cycle disorders

Molecular genetics and metabolism, 2014-09, Vol.113 (1-2), p.127-130

2014

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DS-Connect: A Promising Tool to Improve Lives and Engage Down Syndrome Communities Worldwide

Global heart, 2015-12, Vol.10 (4), p.337-340

2015

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Priorities for hydrocephalus research: report from a National Institutes of Health–sponsored workshop

Journal of neurosurgery. Pediatrics, 2007-11, Vol.107 (5), p.345-357

2007

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Impairments in learning and memory accompanied by neurodegeneration in mice transgenic for the carboxyl-terminus of the amyloid precursor protein

Brain research. Molecular brain research., 1999-03, Vol.66 (1), p.150-162

1999

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Priorities for hydrocephalus research: report from a National Institutes of Health-sponsored workshop

Journal of neurosurgery, 2007-11, Vol.107 (5 Suppl), p.345-357

2007

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Neurotoxicity of a Fragment of the Amyloid Precursor Associated with Alzheimer's Disease

Science (American Association for the Advancement of Science), 1989-07, Vol.245 (4916), p.417-420

1989

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Harmaline-induced tremor in the rat: Abolition by 3-acetylpyridine destruction of cerebellar climbing fibers

Brain research, 1976-09, Vol.114 (1), p.144-151

1976

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Down syndrome: National conference on patient registries, research databases, and biobanks

Molecular genetics and metabolism, 2011-09, Vol.104 (1-2), p.13-22

2011

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Enhanced production of superoxide anion by microglia from trisomy 16 mice

Brain research, 1990-06, Vol.519 (1), p.236-242

1990

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1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency

Molecular genetics and metabolism, 2008-09, Vol.95 (1), p.21-30

2008

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102. Update on lysosomal diseases research supported by The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): From basic science to newborn screening and therapeutic interventions

Molecular genetics and metabolism, 2010-02, Vol.99 (2), p.S29

2010

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Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse

Brain research. Developmental brain research, 1995-12, Vol.90 (1), p.35-44

1995

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Cell lineage analysis of cerebellar Purkinje cells in mouse chimeras

Developmental biology, 1981-07, Vol.85 (1), p.199-208

1981

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Glutamic acid: Selective depletion by viral induced granule cell loss in hamster cerebellum

Brain research, 1974-06, Vol.73 (1), p.1-13

1974

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Self-injurious behavior: Gene-brain-behavior relationships

Mental retardation and developmental disabilities research reviews, 2001-02, Vol.7 (1), p.3-12

2001

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Conference Proceedings: “Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks”

Molecular genetics and metabolism, 2011-01, Vol.104 (1-2), p.13-22

2011

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Characterization of N-methyl- d-aspartate receptors in the hyperammonemic Sparse fur mouse

Brain research, 1998-06, Vol.797 (2), p.209-217

1998

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The pathogenesis of parvovirus-induced cerebellar hypoplasia in the syrian hamster, Mesocricetus auratus. Fluorescent antibody, foliation, cytoarchitectonic, golgi and electron microscopic studies

Journal of comparative neurology (1911), 1976-10, Vol.169 (4), p.481-521

1976

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Transgenic mice expressing APP-C100 in the brain

Neurobiology of aging, 1996-03, Vol.17 (2), p.191-203

1996

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The development of the cerebellar cortex of the syrian hamster, Mesocricetus auratus. Foliation, cytoarchitectonic, golgi, and electron microscopic studies

Journal of comparative neurology (1911), 1976-10, Vol.169 (4), p.443-479

1976

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Dendritic alterations in cortical pyramidal cells in the sparse fur mouse

Brain research, 1998-06, Vol.797 (1), p.167-172

1998

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Neurotransmitter alterations in the trisomy 16 mouse: A genetic model system for studies of down syndrome

Mental retardation and developmental disabilities research reviews, 1995, Vol.1 (3), p.227-236

1995

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Developmental processes and the pathophysiology of mental retardation

Mental retardation and developmental disabilities research reviews, 1996, Vol.2 (4), p.197-208

1996

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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

Age-Dependent Neuronal and Synaptic Degeneration in Mice Transgenic for the C Terminus of the Amyloid Precursor Protein

A longitudinal study of urea cycle disorders

DS-Connect: A Promising Tool to Improve Lives and Engage Down Syndrome Communities Worldwide

Priorities for hydrocephalus research: report from a National Institutes of Health–sponsored workshop

Impairments in learning and memory accompanied by neurodegeneration in mice transgenic for the carboxyl-terminus of the amyloid precursor protein

Priorities for hydrocephalus research: report from a National Institutes of Health-sponsored workshop

Neurotoxicity of a Fragment of the Amyloid Precursor Associated with Alzheimer's Disease

Harmaline-induced tremor in the rat: Abolition by 3-acetylpyridine destruction of cerebellar climbing fibers

Down syndrome: National conference on patient registries, research databases, and biobanks

Enhanced production of superoxide anion by microglia from trisomy 16 mice

1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency

102. Update on lysosomal diseases research supported by The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): From basic science to newborn screening and therapeutic interventions

Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse

Cell lineage analysis of cerebellar Purkinje cells in mouse chimeras

Glutamic acid: Selective depletion by viral induced granule cell loss in hamster cerebellum

Self-injurious behavior: Gene-brain-behavior relationships

Conference Proceedings: “Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks”

Characterization of N-methyl- d-aspartate receptors in the hyperammonemic Sparse fur mouse

The pathogenesis of parvovirus-induced cerebellar hypoplasia in the syrian hamster, Mesocricetus auratus. Fluorescent antibody, foliation, cytoarchitectonic, golgi and electron microscopic studies

Transgenic mice expressing APP-C100 in the brain

The development of the cerebellar cortex of the syrian hamster, Mesocricetus auratus. Foliation, cytoarchitectonic, golgi, and electron microscopic studies

Dendritic alterations in cortical pyramidal cells in the sparse fur mouse

Neurotransmitter alterations in the trisomy 16 mouse: A genetic model system for studies of down syndrome

Developmental processes and the pathophysiology of mental retardation

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