R L Nussbaum
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Explore the profile of R L Nussbaum including associated specialties, affiliations and a list of published articles.
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115
Citations
6459
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Recent Articles
1.
Uson Jr P, Kunze K, Golafshar M, Botrus G, Riegert-Johnson D, Boardman L, et al.
Dig Dis Sci
. 2022 Feb;
67(11):5107-5115.
PMID: 35122589
Background And Aims: To determine prevalence and clinical utility of pathogenic germline variants (PGV) in gastric and esophageal cancer patients using universal genetic testing approach. Methods: We undertook a prospective...
2.
Ikediobi O, Shin J, Nussbaum R, Phillips K, Walsh J, Ladabaum U, et al.
Clin Pharmacol Ther
. 2009 Jun;
86(1):28-31.
PMID: 19536122
Pharmacogenomics aims to use molecular genetic markers to predict treatment outcome. Indeed, within the past decade there has been a rapid emergence of pharmacogenetic tests to aid clinicians in predicting...
3.
Suchy S, Cronin J, Nussbaum R
J Inherit Metab Dis
. 2009 Jan;
32(2):280-8.
PMID: 19172411
The oculocerebrorenal syndrome of Lowe (Lowe syndrome) is an X-linked disorder of phosphatidylinositol metabolism characterized by congenital cataracts, renal proximal tubulopathy and neurological deficits. The disorder is due to the...
4.
Lippa C, Duda J, Grossman M, Hurtig H, Aarsland D, Boeve B, et al.
Neurology
. 2007 Mar;
68(11):812-9.
PMID: 17353469
For more than a decade, researchers have refined criteria for the diagnosis of dementia with Lewy bodies (DLB) and at the same time have recognized that cognitive impairment and dementia...
5.
Lichter-Konecki U, Farber L, Cronin J, Suchy S, Nussbaum R
Mol Genet Metab
. 2006 Jun;
89(1-2):121-8.
PMID: 16777452
Lowe syndrome is a rare X-linked disease characterized by congenital cataracts, defects in renal tubule cell function, and mental retardation. Mutations in the OCRL1 gene, which encodes ocrl1, a phosphatidylinositol-4,5-bisphosphate...
6.
Castagnet P, Golovko M, Barcelo-Coblijn G, Nussbaum R, Murphy E
J Neurochem
. 2005 Jul;
94(3):839-49.
PMID: 16033426
Because alpha-synuclein may function as a fatty acid binding protein, we measured fatty acid incorporation into astrocytes isolated from wild-type and alpha-synuclein gene-ablated mice. alpha-Synuclein deficiency decreased palmitic acid (16:0)...
7.
Goker-Alpan O, Schiffmann R, LaMarca M, Nussbaum R, McInerney-Leo A, Sidransky E
J Med Genet
. 2004 Dec;
41(12):937-40.
PMID: 15591280
An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands...
8.
Chiba-Falek O, Nussbaum R
Cold Spring Harb Symp Quant Biol
. 2004 Sep;
68:409-15.
PMID: 15338643
No abstract available.
9.
Johnson J, Hague S, Hanson M, Gibson A, Wilson K, Evans E, et al.
Neurology
. 2004 Aug;
63(3):554-6.
PMID: 15304594
The authors recently have shown that triplication of the alpha-synuclein gene (SNCA) can cause Parkinson disease (PD) and diffuse Lewy body disease within the same kindred. The authors assessed 101...
10.
Hellsten E, Evans J, Bernard D, Janne P, Nussbaum R
Dev Biol
. 2002 Jan;
240(2):641-53.
PMID: 11784089
Inpp5b is an ubiquitously expressed type II inositol polyphosphate 5-phosphatase. We have disrupted the Inpp5b gene in mice and found that homozygous mutant males are infertile. Here we examine the...