Robert Nussbaum - Publications

Affiliations: 
Genomic Medicine University of California, San Francisco, San Francisco, CA 
Area:
Medical Genetics
Website:
http://profiles.ucsf.edu/robert.nussbaum

108 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 Wang Y, Bernhardy AJ, Cruz C, Krais JJ, Nacson J, Nicolas E, Peri S, van der Gulden H, van der Heijden I, O'Brien SW, Zhang Y, Harrell MI, Johnson SF, Candido Dos Reis FJ, Pharoah PD, ... ... Nussbaum R, et al. The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin. Cancer Research. 76: 2778-2790. PMID 27197267 DOI: 10.1158/0008-5472.CAN-16-0186  0.88
2016 Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, Karlan BY, Mitchell G, James P, Thull DL, Zorn KK, Carter NJ, Nathanson KL, Domchek SM, Rebbeck TR, Ramus SJ, ... Nussbaum RL, et al. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Research : Bcr. 18: 15. PMID 26857456 DOI: 10.1186/s13058-016-0671-y  0.88
2016 Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D, McGuffog L, Ellis S, Feng B, Buys SS, Hopper JL, Southey MC, ... ... Nussbaum RL, et al. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. Journal of the National Cancer Institute. 108. PMID 26586665 DOI: 10.1093/jnci/djv315  0.88
2015 Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS. ClinGen--the Clinical Genome Resource. The New England Journal of Medicine. 372: 2235-42. PMID 26014595 DOI: 10.1056/NEJMsr1406261  0.88
2015 Kuo YM, Nussbaum RL. Prolongation of Chemically-Induced Methemoglobinemia in Mice Lacking α-synuclein: A Novel Pharmacologic and Toxicologic Phenotype. Toxicology Reports. 2: 504-511. PMID 25859428 DOI: 10.1016/j.toxrep.2015.02.013  0.88
2014 Kuchenbaecker KB, Neuhausen SL, Robson M, Barrowdale D, McGuffog L, Mulligan AM, Andrulis IL, Spurdle AB, Schmidt MK, Schmutzler RK, Engel C, Wappenschmidt B, Nevanlinna H, Thomassen M, Southey M, ... ... Nussbaum RL, et al. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research : Bcr. 16: 3416. PMID 25919761 DOI: 10.1186/s13058-014-0492-9  0.88
2014 Fishbein I, Kuo YM, Giasson BI, Nussbaum RL. Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation. Brain : a Journal of Neurology. 137: 3235-47. PMID 25351739 DOI: 10.1093/brain/awu291  0.88
2014 Jackson SA, Davis AA, Li J, Yi N, McCormick SR, Grant C, Fallen T, Crawford B, Loranger K, Litton J, Arun B, Vande Wydeven K, Sidani A, Farmer K, Sanders M, ... ... Nussbaum R, et al. Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2. Cancer. 120: 1557-64. PMID 24522996 DOI: 10.1002/cncr.28577  0.88
2014 Escobar VD, Kuo YM, Orrison BM, Giasson BI, Nussbaum RL. Transgenic mice expressing S129 phosphorylation mutations in α-synuclein. Neuroscience Letters. 563: 96-100. PMID 24486885 DOI: 10.1016/j.neulet.2014.01.033  0.88
2013 Chen H, Burton EA, Ross GW, Huang X, Savica R, Abbott RD, Ascherio A, Caviness JN, Gao X, Gray KA, Hong JS, Kamel F, Jennings D, Kirshner A, Lawler C, ... ... Nussbaum R, et al. Research on the premotor symptoms of Parkinson's disease: clinical and etiological implications. Environmental Health Perspectives. 121: 1245-52. PMID 23933572 DOI: 10.1289/ehp.1306967  0.88
2013 Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing Genetics in Medicine. 15: 565-574. PMID 23788249 DOI: 10.1038/gim.2013.73  0.88
2013 Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing Genetics in Medicine. 15: 565-574. PMID 23788249 DOI: 10.1038/gim.2013.73  0.88
2013 Nussbaum RL. Genome-wide association studies, Alzheimer disease, and understudied populations Jama - Journal of the American Medical Association. 309: 1527-1528. PMID 23571593 DOI: 10.1001/jama.2013.3507  0.88
2013 Calloe K, Refaat MM, Grubb S, Wojciak J, Campagna J, Thomsen NM, Nussbaum RL, Scheinman MM, Schmitt N. Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome. Circulation. Arrhythmia and Electrophysiology. 6: 177-84. PMID 23424222 DOI: 10.1161/CIRCEP.112.974220  0.88
2013 Calloe K, Refaat MM, Grubb S, Wojciak J, Campagna J, Thomsen NM, Nussbaum RL, Scheinman MM, Schmitt N. Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome. Circulation. Arrhythmia and Electrophysiology. 6: 177-84. PMID 23424222 DOI: 10.1161/CIRCEP.112.974220  0.88
2012 Fanara P, Wong PY, Husted KH, Liu S, Liu VM, Kohlstaedt LA, Riiff T, Protasio JC, Boban D, Killion S, Killian M, Epling L, Sinclair E, Peterson J, Price RW, ... ... Nussbaum RL, et al. Cerebrospinal fluid-based kinetic biomarkers of axonal transport in monitoring neurodegeneration. The Journal of Clinical Investigation. 122: 3159-69. PMID 22922254 DOI: 10.1172/JCI64575  0.88
2012 Fanara P, Wong PY, Husted KH, Liu S, Liu VM, Kohlstaedt LA, Riiff T, Protasio JC, Boban D, Killion S, Killian M, Epling L, Sinclair E, Peterson J, Price RW, ... ... Nussbaum RL, et al. Cerebrospinal fluid-based kinetic biomarkers of axonal transport in monitoring neurodegeneration. The Journal of Clinical Investigation. 122: 3159-69. PMID 22922254 DOI: 10.1172/JCI64575  0.88
2012 Mollenhauer B, Trautmann E, Otte B, Ng J, Spreer A, Lange P, Sixel-Döring F, Hakimi M, VonSattel JP, Nussbaum R, Trenkwalder C, Schlossmacher MG. α-Synuclein in human cerebrospinal fluid is principally derived from neurons of the central nervous system Journal of Neural Transmission. 119: 739-746. PMID 22426833 DOI: 10.1007/s00702-012-0784-0  0.88
2012 Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, et al. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 14: 405-10. PMID 22422049 DOI: 10.1038/gim.2012.21  0.88
2012 Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, et al. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 14: 405-10. PMID 22422049 DOI: 10.1038/gim.2012.21  0.88
2012 Nussbaum RL. Critique of "evidence-Based Surgical Hypothesis: The case against BRCA1 and 2 testing" Surgery. 151: 634-637. PMID 22306835 DOI: 10.1016/j.surg.2011.12.030  0.88
2012 Bolton KL, Chenevix-Trench G, Goh C, Sadetzki S, Ramus SJ, Karlan BY, Lambrechts D, Despierre E, Barrowdale D, McGuffog L, Healey S, Easton DF, Sinilnikova O, Benítez J, García MJ, ... ... Nussbaum RL, et al. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. Jama. 307: 382-90. PMID 22274685 DOI: 10.1001/jama.2012.20  0.88
2012 Bolton KL, Chenevix-Trench G, Goh C, Sadetzki S, Ramus SJ, Karlan BY, Lambrechts D, Despierre E, Barrowdale D, McGuffog L, Healey S, Easton DF, Sinilnikova O, Benítez J, García MJ, ... ... Nussbaum RL, et al. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. Jama. 307: 382-90. PMID 22274685 DOI: 10.1001/jama.2012.20  0.88
2011 Caleshu C, Sakhuja R, Nussbaum RL, Schiller NB, Ursell PC, Eng C, De Marco T, McGlothlin D, Burchard EG, Rame JE. Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. American Journal of Medical Genetics. Part A. 155: 2229-35. PMID 21823217 DOI: 10.1002/ajmg.a.34097  0.88
2011 Markello TC, St. Hilaire C, Ziegler SG, Nussbaum RL, Boehm M, Gahl WA. Reply to Professor Lefthériotis et al. Molecular Genetics and Metabolism. 103: 305. PMID 21592834 DOI: 10.1016/j.ymgme.2011.04.008  0.88
2011 Nakamura K, Nemani VM, Azarbal F, Skibinski G, Levy JM, Egami K, Munishkina L, Zhang J, Gardner B, Wakabayashi J, Sesaki H, Cheng Y, Finkbeiner S, Nussbaum RL, Masliah E, et al. Direct membrane association drives mitochondrial fission by the Parkinson disease-associated protein alpha-synuclein. The Journal of Biological Chemistry. 286: 20710-26. PMID 21489994 DOI: 10.1074/jbc.M110.213538  0.88
2011 Nakamura K, Nemani VM, Azarbal F, Skibinski G, Levy JM, Egami K, Munishkina L, Zhang J, Gardner B, Wakabayashi J, Sesaki H, Cheng Y, Finkbeiner S, Nussbaum RL, Masliah E, et al. Direct membrane association drives mitochondrial fission by the Parkinson disease-associated protein alpha-synuclein. The Journal of Biological Chemistry. 286: 20710-26. PMID 21489994 DOI: 10.1074/jbc.M110.213538  0.88
2011 Markello TC, Pak LK, St. Hilaire C, Dorward H, Ziegler SG, Chen MY, Chaganti K, Nussbaum RL, Boehm M, Gahl WA. Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum Molecular Genetics and Metabolism. 103: 44-50. PMID 21371928 DOI: 10.1016/j.ymgme.2011.01.018  0.88
2011 Bale S, Devisscher M, Criekinge WV, Rehm HL, Decouttere F, Nussbaum R, Dunnen JTD, Willems P. MutaDATABASE: A centralized and standardized DNA variation database Nature Biotechnology. 29: 117-118. PMID 21301433 DOI: 10.1038/nbt.1772  0.88
2011 Hilaire CS, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, ... ... Nussbaum RL, et al. NT5E mutations and arterial calcifications New England Journal of Medicine. 364: 432-442. PMID 21288095 DOI: 10.1056/NEJMoa0912923  0.88
2011 Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL. Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. Journal of the American Society of Nephrology : Jasn. 22: 443-8. PMID 21183592 DOI: 10.1681/ASN.2010050565  0.88
2011 Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL. Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. Journal of the American Society of Nephrology : Jasn. 22: 443-8. PMID 21183592 DOI: 10.1681/ASN.2010050565  0.88
2011 Sung RK, Ursell PC, Rame JE, Bailey H, Caleshu C, Nussbaum RL, Scheinman MM. QTc prolongation and family history of sudden death in a patient with desmin cardiomyopathy. Pacing and Clinical Electrophysiology : Pace. 34: e105-8. PMID 20636320 DOI: 10.1111/j.1540-8159.2010.02826.x  0.88
2011 Sung RK, Ursell PC, Rame JE, Bailey H, Caleshu C, Nussbaum RL, Scheinman MM. QTc prolongation and family history of sudden death in a patient with desmin cardiomyopathy. Pacing and Clinical Electrophysiology : Pace. 34: e105-8. PMID 20636320 DOI: 10.1111/j.1540-8159.2010.02826.x  0.88
2011 Bale S, Rehm HL, Nussbaum R, Hegde M, Den Dunnen JT, Willems P. Reply to Clarity and claims in variation/mutation databasing Nature Biotechnology. 29: 792-794. DOI: 10.1038/nbt.1962  0.88
2010 Bothwell SP, Farber LW, Hoagland A, Nussbaum RL. Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome Mammalian Genome. 21: 458-466. PMID 20872266 DOI: 10.1007/s00335-010-9281-7  0.88
2010 Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, Garber JE, Goorha S, Gruber SB, Hampel H, Kaklamani V, Kohlmann W, Kurian A, Litton J, Marcom PK, ... Nussbaum R, et al. Genetic/familial high-risk assessment: breast and ovarian. Journal of the National Comprehensive Cancer Network : Jnccn. 8: 562-94. PMID 20495085  0.88
2010 Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, Garber JE, Goorha S, Gruber SB, Hampel H, Kaklamani V, Kohlmann W, Kurian A, Litton J, Marcom PK, ... Nussbaum R, et al. Genetic/familial high-risk assessment: breast and ovarian. Journal of the National Comprehensive Cancer Network : Jnccn. 8: 562-94. PMID 20495085  0.88
2010 Corpe CP, Tu H, Eck P, Wang J, Faulhaber-Walter R, Schnermann J, Margolis S, Padayatty S, Sun H, Wang Y, Nussbaum RL, Espey MG, Levine M. Vitamin C transporter Slc23a1 links renal reabsorption, vitamin C tissue accumulation, and perinatal survival in mice Journal of Clinical Investigation. 120: 1069-1083. PMID 20200446 DOI: 10.1172/JCI39191  0.88
2010 Bernard DJ, Nussbaum RL. X-inactivation analysis of embryonic lethality in Ocrl wt/-;Inpp5b -/- mice Mammalian Genome. 21: 186-194. PMID 20195868 DOI: 10.1007/s00335-010-9255-9  0.88
2010 Kuo YM, Li Z, Jiao Y, Gaborit N, Pani AK, Orrison BM, Bruneau BG, Giasson BI, Smeyne RJ, Gershon MD, Nussbaum RL. Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes. Human Molecular Genetics. 19: 1633-50. PMID 20106867 DOI: 10.1093/hmg/ddq038  0.88
2010 Nussbaum RL. Genetics and Genomics of Dementia Essentials of Genomic and Personalized Medicine. 687-699. DOI: 10.1016/B978-0-12-374934-5.00053-2  0.88
2009 Sotiriou S, Gibney G, Baxevanis AD, Nussbaum RL. A single nucleotide polymorphism in the 3′UTR of the SNCA gene encoding alpha-synuclein is a new potential susceptibility locus for Parkinson disease Neuroscience Letters. 461: 196-201. PMID 19540308 DOI: 10.1016/j.neulet.2009.06.034  0.88
2009 Ikediobi ON, Shin J, Nussbaum RL, Phillips KA, Walsh JM, Ladabaum U, Marshall D. Addressing the challenges of the clinical application of pharmacogenetic testing Clinical Pharmacology and Therapeutics. 86: 28-31. PMID 19536122 DOI: 10.1038/clpt.2009.30  0.88
2009 Cronin KD, Ge D, Manninger P, Linnertz C, Rossoshek A, Orrison BM, Bernard DJ, El-Agnaf OMA, Schlossmacher MG, Nussbaum RL, Chiba-Falek O. Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human α-synuclein in transgenic mouse brain Human Molecular Genetics. 18: 3274-3285. PMID 19498036 DOI: 10.1093/hmg/ddp265  0.88
2009 Gispert S, Ricciardi F, Kurz A, Azizov M, Hoepken HH, Becker D, Voos W, Leuner K, Müller WE, Kudin AP, Kunz WS, Zimmermann A, Roeper J, Wenzel D, Jendrach M, ... ... Nussbaum RL, et al. Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration. Plos One. 4: e5777. PMID 19492057 DOI: 10.1371/journal.pone.0005777  0.88
2009 Gispert S, Ricciardi F, Kurz A, Azizov M, Hoepken HH, Becker D, Voos W, Leuner K, Müller WE, Kudin AP, Kunz WS, Zimmermann A, Roeper J, Wenzel D, Jendrach M, ... ... Nussbaum RL, et al. Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration. Plos One. 4: e5777. PMID 19492057 DOI: 10.1371/journal.pone.0005777  0.88
2009 Kangelaris KN, Bent S, Nussbaum RL, Garcia DA, Tice JA. Genetic testing before anticoagulation? A systematic review of pharmacogenetic dosing of warfarin. Journal of General Internal Medicine. 24: 656-64. PMID 19306050 DOI: 10.1007/s11606-009-0949-1  0.88
2009 Suchy SF, Cronin JC, Nussbaum RL. Abnormal bradykinin signalling in fibroblasts deficient in the PIP2 5-phosphatase, ocrl1 Journal of Inherited Metabolic Disease. 32: 280-288. PMID 19172411 DOI: 10.1007/s10545-009-1058-3  0.88
2009 Nussbaum RL. The genetic approach to dementia Genomic and Personalized Medicine, Two-Vol Set. 1221-1232. DOI: 10.1016/B978-0-12-369420-1.00099-8  0.88
2009 Kangelaris KN, Bent S, Nussbaum RL, Garcia DA, Tice JA. Genetic testing before anticoagulation? A systematic review of pharmacogenetic dosing of warfarin (Journal of General Internal Medicine 24:12 (1358)) Journal of General Internal Medicine. 24: 1358. DOI: 10.1007/s11606-009-1081-y  0.88
2008 McFarland MA, Ellis CE, Markey SP, Nussbaum RL. Proteomics analysis identifies phosphorylation-dependent alpha-synuclein protein interactions. Molecular & Cellular Proteomics : McP. 7: 2123-37. PMID 18614564 DOI: 10.1074/mcp.M800116-MCP200  0.88
2008 McFarland MA, Ellis CE, Markey SP, Nussbaum RL. Proteomics analysis identifies phosphorylation-dependent alpha-synuclein protein interactions. Molecular & Cellular Proteomics : McP. 7: 2123-37. PMID 18614564 DOI: 10.1074/mcp.M800116-MCP200  0.88
2008 Cole NB, DiEuliis D, Leo P, Mitchell DC, Nussbaum RL. Mitochondrial translocation of α-synuclein is promoted by intracellular acidification Experimental Cell Research. 314: 2076-2089. PMID 18440504 DOI: 10.1016/j.yexcr.2008.03.012  0.88
2008 Caulfield T, McGuire AL, Cho M, Buchanan JA, Burgess MM, Danilczyk U, Diaz CM, Fryer-Edwards K, Green SK, Hodosh MA, Juengst ET, Kaye J, Kedes L, Knoppers BM, Lemmens T, ... ... Nussbaum RL, et al. Research ethics recommendations for whole-genome research: consensus statement. Plos Biology. 6: e73. PMID 18366258 DOI: 10.1371/journal.pbio.0060073  0.88
2008 Caulfield T, McGuire AL, Cho M, Buchanan JA, Burgess MM, Danilczyk U, Diaz CM, Fryer-Edwards K, Green SK, Hodosh MA, Juengst ET, Kaye J, Kedes L, Knoppers BM, Lemmens T, ... ... Nussbaum RL, et al. Research ethics recommendations for whole-genome research: consensus statement. Plos Biology. 6: e73. PMID 18366258 DOI: 10.1371/journal.pbio.0060073  0.88
2007 Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, et al. Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation. Neuro-Degenerative Diseases. 4: 386-91. PMID 17622782 DOI: 10.1159/000105160  0.88
2007 Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, et al. Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation. Neuro-Degenerative Diseases. 4: 386-91. PMID 17622782 DOI: 10.1159/000105160  0.88
2007 Entezam A, Biacsi R, Orrison B, Saha T, Hoffman GE, Grabczyk E, Nussbaum RL, Usdin K. Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model Gene. 395: 125-134. PMID 17442505 DOI: 10.1016/j.gene.2007.02.026  0.88
2007 Lippa CF, Duda JE, Grossman M, Hurtig HI, Aarsland D, Boeve BF, Brooks DJ, Dickson DW, Dubois B, Emre M, Fahn S, Farmer JM, Galasko D, Galvin JE, Goetz CG, ... ... Nussbaum RL, et al. DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology. 68: 812-9. PMID 17353469 DOI: 10.1212/01.wnl.0000256715.13907.d3  0.88
2007 Lippa CF, Duda JE, Grossman M, Hurtig HI, Aarsland D, Boeve BF, Brooks DJ, Dickson DW, Dubois B, Emre M, Fahn S, Farmer JM, Galasko D, Galvin JE, Goetz CG, ... ... Nussbaum RL, et al. DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology. 68: 812-9. PMID 17353469 DOI: 10.1212/01.wnl.0000256715.13907.d3  0.88
2007 Loovers HM, Kortholt A, de Groote H, Whitty L, Nussbaum RL, van Haastert PJM. Regulation of phagocytosis in Dictyostelium by the inositol 5-phosphatase OCRL homolog Dd5P4 Traffic. 8: 618-628. PMID 17343681 DOI: 10.1111/j.1600-0854.2007.00546.x  0.88
2007 Hoepken HH, Gispert S, Morales B, Wingerter O, Del Turco D, Mülsch A, Nussbaum RL, Müller K, Dröse S, Brandt U, Deller T, Wirth B, Kudin AP, Kunz WS, Auburger G. Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6. Neurobiology of Disease. 25: 401-11. PMID 17141510 DOI: 10.1016/j.nbd.2006.10.007  0.88
2007 Nussbaum R, Peltonen L. Genetics of disease. Recent advances in the genetics of human disease offer something new for every scientific interest Current Opinion in Genetics and Development. 17: 163-165. DOI: 10.1016/j.gde.2007.03.003  0.88
2007 Chiba-Falek O, Lopez GJ, Nussbaum RL. Reply: Expression of α-synuclein mRNA in Parkinson's disease [3] Movement Disorders. 22: 1057. DOI: 10.1002/mds.21498  0.88
2006 Chiba-Falek O, Lopez GJ, Nussbaum RL. Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 1703-8. PMID 16795004 DOI: 10.1002/mds.21007  0.88
2006 Lichter-Konecki U, Farber LW, Cronin JS, Suchy SF, Nussbaum RL. The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function. Molecular Genetics and Metabolism. 89: 121-8. PMID 16777452 DOI: 10.1016/j.ymgme.2006.04.005  0.88
2006 Golovko MY, Rosenberger TA, Faergeman NJ, Feddersen S, Cole NB, Pribill I, Berger J, Nussbaum RL, Murphy EJ. Acyl-CoA synthetase activity links wild-type but not mutant alpha-synuclein to brain arachidonate metabolism. Biochemistry. 45: 6956-66. PMID 16734431 DOI: 10.1021/bi0600289  0.88
2005 Ellis CE, Murphy EJ, Mitchell DC, Golovko MY, Scaglia F, Barceló-Coblijn GC, Nussbaum RL. Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein. Molecular and Cellular Biology. 25: 10190-201. PMID 16260631 DOI: 10.1128/MCB.25.22.10190-10201.2005  0.88
2005 Nussbaum RL. Mining yeast in silico unearths a golden nugget for mitochondrial biology. The Journal of Clinical Investigation. 115: 2689-91. PMID 16200203 DOI: 10.1172/JCI26625  0.88
2005 Castagnet PI, Golovko MY, Barceló-Coblijn GC, Nussbaum RL, Murphy EJ. Fatty acid incorporation is decreased in astrocytes cultured from alpha-synuclein gene-ablated mice. Journal of Neurochemistry. 94: 839-49. PMID 16033426 DOI: 10.1111/j.1471-4159.2005.03247.x  0.88
2005 Golovko MY, Faergeman NJ, Cole NB, Castagnet PI, Nussbaum RL, Murphy EJ. Alpha-synuclein gene deletion decreases brain palmitate uptake and alters the palmitate metabolism in the absence of alpha-synuclein palmitate binding. Biochemistry. 44: 8251-9. PMID 15938614 DOI: 10.1021/bi0502137  0.88
2005 Simon-Sanchez J, Hanson M, Singleton A, Hernandez D, McInerney A, Nussbaum R, Werner J, Gallardo M, Weiser R, Gwinn-Hardy K, Singleton AB, Clarimon J. Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neuroscience Letters. 382: 191-4. PMID 15911147 DOI: 10.1016/j.neulet.2005.03.015  0.88
2005 Meyer-Lindenberg A, Kohn PD, Kolachana B, Kippenhan S, McInerney-Leo A, Nussbaum R, Weinberger DR, Berman KF. Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype. Nature Neuroscience. 8: 594-6. PMID 15821730 DOI: 10.1038/nn1438  0.88
2005 Hernandez DG, Paisán-Ruíz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Evans EW, Berman KF, Johnson J, Auburger G, Schäffer AA, Lopez GJ, Nussbaum RL, Singleton AB. Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Annals of Neurology. 57: 453-6. PMID 15732108 DOI: 10.1002/ana.20401  0.88
2005 Nussbaum RL. What is special about the "human" in "human genetics"? American Journal of Human Genetics. 76: 198-202. PMID 15714685 DOI: 10.1086/427894  0.88
2005 Lelievre E, Bourbon PM, Duan LJ, Nussbaum RL, Fong GH. Deficiency in the p110alpha subunit of PI3K results in diminished Tie2 expression and Tie2(-/-)-like vascular defects in mice. Blood. 105: 3935-8. PMID 15687236 DOI: 10.1182/blood-2004-10-3955  0.88
2005 Chiba-Falek O, Kowalak JA, Smulson ME, Nussbaum RL. Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene. American Journal of Human Genetics. 76: 478-92. PMID 15672325 DOI: 10.1086/428655  0.88
2005 Miller DW, Crawley A, Gwinn-Hardy K, Lopez G, Nussbaum R, Cookson MR, Singleton AB, Hardy J, Dogu O. Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. Neuroscience Letters. 374: 189-91. PMID 15663960 DOI: 10.1016/j.neulet.2004.10.053  0.88
2005 Hoopes RR, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ. Dent Disease with mutations in OCRL1. American Journal of Human Genetics. 76: 260-7. PMID 15627218 DOI: 10.1086/427887  0.88
2005 Cole NB, Murphy DD, Lebowitz J, Di Noto L, Levine RL, Nussbaum RL. Metal-catalyzed oxidation of alpha-synuclein: helping to define the relationship between oligomers, protofibrils, and filaments. The Journal of Biological Chemistry. 280: 9678-90. PMID 15615715 DOI: 10.1074/jbc.M409946200  0.88
2005 Cabin DE, Gispert-Sanchez S, Murphy D, Auburger G, Myers RR, Nussbaum RL. Exacerbated synucleinopathy in mice expressing A53T SNCA on a Snca null background. Neurobiology of Aging. 26: 25-35. PMID 15585343 DOI: 10.1016/j.neurobiolaging.2004.02.026  0.88
2004 Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, et al. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Archives of Neurology. 61: 1898-904. PMID 15596610 DOI: 10.1001/archneur.61.12.1898  0.88
2004 Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Parkinsonism among Gaucher disease carriers. Journal of Medical Genetics. 41: 937-40. PMID 15591280 DOI: 10.1136/jmg.2004.024455  0.88
2004 Schmid AC, Wise HM, Mitchell CA, Nussbaum R, Woscholski R. Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation. Febs Letters. 576: 9-13. PMID 15474001 DOI: 10.1016/j.febslet.2004.08.052  0.88
2004 Herrick EK, Nussbaum R, Holtzman NA, Wissow L. Asking fathers: A study of psychosocial adaptation Haemophilia. 10: 582-589. PMID 15357787 DOI: 10.1111/j.1365-2516.2004.00958.x  0.88
2004 Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, et al. SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology. 63: 554-6. PMID 15304594  0.88
2004 McInerney-Leo A, Gwinn-Hardy K, Nussbaum RL. Prevalence of Parkinson's disease in populations of African ancestry: a review. Journal of the National Medical Association. 96: 974-9. PMID 15253330  0.88
2004 Gamm JL, Nussbaum RL, Bowles Biesecker B. Genetics and alcoholism among at-risk relatives II: interest and concerns about hypothetical genetic testing for alcoholism risk. American Journal of Medical Genetics. Part A. 128: 151-5. PMID 15214006 DOI: 10.1002/ajmg.a.30003  0.88
2004 Gamm JL, Nussbaum RL, Biesecker BB. Genetics and alcoholism among at-risk relatives I: perceptions of cause, risk, and control. American Journal of Medical Genetics. Part A. 128: 144-50. PMID 15214005 DOI: 10.1002/ajmg.a.30082  0.88
2004 Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (New York, N.Y.). 304: 1158-60. PMID 15087508 DOI: 10.1126/science.1096284  0.88
2003 Chiba-Falek O, Nussbaum RL. Regulation of α-synuclein expression: Implications for Parkinson's disease Cold Spring Harbor Symposia On Quantitative Biology. 68: 409-415. PMID 15338643  0.88
2003 Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science (New York, N.Y.). 302: 841. PMID 14593171 DOI: 10.1126/science.1090278  0.88
2003 Gispert S, Del Turco D, Garrett L, Chen A, Bernard DJ, Hamm-Clement J, Korf HW, Deller T, Braak H, Auburger G, Nussbaum RL. Transgenic mice expressing mutant A53T human alpha-synuclein show neuronal dysfunction in the absence of aggregate formation. Molecular and Cellular Neurosciences. 24: 419-29. PMID 14572463 DOI: 10.1016/S1044-7431(03)00198-2  0.88
2003 Chiba-Falek O, Touchman JW, Nussbaum RL. Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene. Human Genetics. 113: 426-31. PMID 12923682 DOI: 10.1007/s00439-003-1002-9  0.88
2003 Wenk MR, Lucast L, Di Paolo G, Romanelli AJ, Suchy SF, Nussbaum RL, Cline GW, Shulman GI, McMurray W, De Camilli P. Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry. Nature Biotechnology. 21: 813-7. PMID 12808461 DOI: 10.1038/nbt837  0.88
2003 Nussbaum RL, Ellis CE. Alzheimer's disease and Parkinson's disease. The New England Journal of Medicine. 348: 1356-64. PMID 12672864 DOI: 10.1056/NEJM2003ra020003  0.88
2003 Witmer PD, Doheny KF, Adams MK, Boehm CD, Dizon JS, Goldstein JL, Templeton TM, Wheaton AM, Dong PN, Pugh EW, Nussbaum RL, Hunter K, Kelmenson JA, Rowe LB, Brownstein MJ. The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis. Genome Research. 13: 485-91. PMID 12618379 DOI: 10.1101/gr.717903  0.88
2003 Brooks AI, Chattopadhyay S, Mitchison HM, Nussbaum RL, Pearce DA. Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease. Molecular Genetics and Metabolism. 78: 17-30. PMID 12559844 DOI: 10.1016/S1096-7192(02)00201-9  0.88
2003 Caruso C, Franceschi C, Licastro F, Nussbaum R, Ellis C. Genetics of neurodegenerative disorders [4] (multiple letters) New England Journal of Medicine. 349: 193-194. DOI: 10.1056/NEJM200307103490219  0.88
2002 Suchy SF, Nussbaum RL. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. American Journal of Human Genetics. 71: 1420-7. PMID 12428211 DOI: 10.1086/344517  0.88
2002 Cabin DE, Shimazu K, Murphy D, Cole NB, Gottschalk W, McIlwain KL, Orrison B, Chen A, Ellis CE, Paylor R, Lu B, Nussbaum RL. Synaptic vesicle depletion correlates with attenuated synaptic responses to prolonged repetitive stimulation in mice lacking alpha-synuclein. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 22: 8797-807. PMID 12388586  0.88
2002 Sotiriou S, Gispert S, Cheng J, Wang Y, Chen A, Hoogstraten-Miller S, Miller GF, Kwon O, Levine M, Guttentag SH, Nussbaum RL. Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival. Nature Medicine. 8: 514-7. PMID 11984597 DOI: 10.1038/nm0502-514  0.88
2002 Hellsten E, Bernard DJ, Owens JW, Eckhaus M, Suchy SF, Nussbaum RL. Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphatase. Biology of Reproduction. 66: 1522-30. PMID 11967219  0.88
2002 Lavedan C, Buchholtz S, Nussbaum RL, Albin RL, Polymeropoulos MH. A mutation in the human neurofilament M gene in Parkinson's disease that suggests a role for the cytoskeleton in neuronal degeneration. Neuroscience Letters. 322: 57-61. PMID 11958843 DOI: 10.1016/S0304-3940(01)02513-7  0.88
2002 Bi L, Okabe I, Bernard DJ, Nussbaum RL. Early embryonic lethality in mice deficient in the p110beta catalytic subunit of PI 3-kinase. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 13: 169-72. PMID 11919689 DOI: 10.1007/s00335-001-2123-x  0.88
1992 Lee JT, Murgia A, Sosnoski DM, Olivos IM, Nussbaum RL. Construction and characterization of a yeast artificial chromosome library for Xpter-Xq27.3: a systematic determination of cocloning rate and X-chromosome representation. Genomics. 12: 526-33. PMID 1559703  0.88
1989 Lee JT, Nussbaum RL. An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells. The Journal of Clinical Investigation. 84: 1762-6. PMID 2556444 DOI: 10.1172/JCI114360  0.88
Show low-probability matches.