selected publications
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Rescue of Learning and Memory Deficits in the Human Nonsyndromic Intellectual Disability Cereblon Knock-Out Mouse Model by Targeting the AMP-Activated Protein Kinase-mTORC1 Translational Pathway.
The Journal of neuroscience : the official journal of the Society for Neuroscience.
2018
Academic Article
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Times cited: 23 -
Lack of association between autism and anti-GM1 ganglioside antibody.
Neurology.
2013
Academic Article
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Times cited: 9 -
Markers of Celiac Disease and Gluten Sensitivity in Children with Autism.
PloS one.
2013
Academic Article
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Times cited: 78 -
Behavioral characterization of cereblon forebrain-specific conditional null mice: a model for human non-syndromic intellectual disability.
Behavioural brain research.
2011
Academic Article
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Times cited: 34 -
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
American journal of human genetics.
2010
Academic Article
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Times cited: 73 -
Temporal and spatial mouse brain expression of cereblon, an ionic channel regulator involved in human intelligence.
Journal of neurogenetics.
2010
Academic Article
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Times cited: 38 -
A nonverbal learning disability in a case of central hypoventilation syndrome without a PHOX2B gene mutation.
2010
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Times cited: 4 -
Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation.
Neurogenetics.
2008
Academic Article
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Times cited: 58 -
The impact of a genetics education program on physicians' knowledge and genetic counseling referral patterns.
Medical teacher.
2007
Academic Article
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Times cited: 29