R. Nussbaum

Publications363
h-index76
Citations37,464
Highly Influential Citations1,487
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Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.
Parkinson's disease (PD) is a common neurodegenerative disorder with a lifetime incidence of approximately 2 percent. A pattern of familial aggregation has been documented for the disorder, and it… Expand
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Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1
Parkinson's disease (PD) is a neurodegenerative disorder characterized by degeneration of dopaminergic neurons in the substantia nigra. We previously mapped a locus for a rare familial form of PD to… Expand
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  • 162
  • PDF
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
Parkinson's disease (PD) is a common neurodegenerative disorder with a lifetime incidence of approximately 2 percent. A pattern of familial aggregation has been documented for the disorder, and it… Expand
  • 6,252
  • 126
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of… Expand
  • 1,857
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α-Synuclein Locus Triplication Causes Parkinson's Disease
Mutations in the α-synuclein gene ( SNCA ) in the Contursi kindred ([ 1 ][1]) implicated this gene in Parkinson's disease (PD). Subsequently, α-synuclein was identified as the major component of Lewy… Expand
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  • 52
Alzheimer's disease and Parkinson's disease.
Although most cases of Alzheimer's and Parkinson's disease are sporadic, some cases are clearly familial. This review, part of the Genomic Medicine series, examines the genetics of these familial… Expand
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The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2.
Fragile X Mental Retardation Syndrome is the most common form of hereditary mental retardation, and is caused by defects in the FMR1 gene. FMR1 is an RNA‐binding protein and the syndrome results from… Expand
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Synaptic Vesicle Depletion Correlates with Attenuated Synaptic Responses to Prolonged Repetitive Stimulation in Mice Lacking α-Synuclein
Although the mutation of α-synuclein, a protein associated with presynaptic vesicles, is implicated in the etiology and pathogenesis of Parkinson's disease, the biological function of the normal… Expand
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Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival
The only proven requirement for ascorbic acid (vitamin C) is in preventing scurvy, presumably because it is a cofactor for hydroxylases required for post-translational modifications that stabilize… Expand
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Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23
Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease, affecting approximately 1 percent of the population over age 50. Recent studies have confirmed… Expand
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