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Robert B. Wilson
Robert B. Wilson
Potvrđena adresa e-pošte na pennmedicine.upenn.edu
Naslov
Citirano
Citirano
Godina
Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue
RB Wilson, DM Roof
Nature genetics 16 (4), 352-357, 1997
4121997
Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale
SH Subramony, W May, D Lynch, C Gomez, K Fischbeck, M Hallett, ...
Neurology 64 (7), 1261-1262, 2005
3682005
Localization of BRCA1 and a splice variant identifies the nuclear localization signal
S Thakur, HB Zhang, Y Peng, H Le, B Carroll, T Ward, J Yao, LM Farid, ...
Molecular and cellular biology 17 (1), 444-452, 1997
3281997
Genetic testing and risk assessment for spinal muscular atrophy (SMA)
S Ogino, RB Wilson
Human genetics 111, 477-500, 2002
2512002
Genetic risk assessment in carrier testing for spinal muscular atrophy
S Ogino, DGB Leonard, H Rennert, WJ Ewens, RB Wilson
American journal of medical genetics 110 (4), 301-307, 2002
2272002
Ethylene glycol poisoning: toxicokinetic and analytical factors affecting laboratory diagnosis
AF Eder, CM McGrath, YG Dowdy, JE Tomaszewski, FM Rosenberg, ...
Clinical Chemistry 44 (1), 168-177, 1998
2181998
Spinal muscular atrophy: molecular genetics and diagnostics
S Ogino, RB Wilson
Expert review of molecular diagnostics 4 (1), 15-29, 2004
2152004
Measuring Friedreich ataxia: complementary features of examination and performance measures
DR Lynch, JM Farmer, AY Tsou, S Perlman, SH Subramony, CM Gomez, ...
Neurology 66 (11), 1711-1716, 2006
2062006
α-Synuclein–induced Aggregation of Cytoplasmic Vesicles in Saccharomyces cerevisiae
JH Soper, S Roy, A Stieber, E Lee, RB Wilson, JQ Trojanowski, CG Burd, ...
Molecular biology of the cell 19 (3), 1093-1103, 2008
1862008
Genotype and haplotype distributions of MTHFR 677C> T and 1298A> C single nucleotide polymorphisms: a meta-analysis
S Ogino, RB Wilson
Journal of human genetics 48 (1), 1-7, 2003
1862003
Repression of immunoglobulin enhancers by the helix-loop-helix protein Id: implications for B-lymphoid-cell development
RB Wilson, M Kiledjian, CP Shen, R Benezra, P Zwollo, SM Dymecki, ...
Molecular and cellular biology 11 (12), 6185-6191, 1991
1861991
New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations
S Ogino, RB Wilson, B Gold
European journal of human genetics 12 (12), 1015-1023, 2004
1682004
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges
S Ogino, ML Gulley, JT den Dunnen, RB Wilson, ...
The Journal of molecular diagnostics 9 (1), 1-6, 2007
1672007
Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy
DR Lynch, JM Farmer, LJ Balcer, RB Wilson
Archives of Neurology 59 (5), 743-747, 2002
1402002
Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design
LS Friedman, JM Farmer, S Perlman, G Wilmot, CM Gomez, KO Bushara, ...
Movement disorders 25 (4), 426-432, 2010
1272010
Detection of leukemia-associated MLL-GAS7 translocation early during chemotherapy with DNA topoisomerase II inhibitors
MD Megonigal, NKV Cheung, EF Rappaport, PC Nowell, RB Wilson, ...
Proceedings of the National Academy of Sciences 97 (6), 2814-2819, 2000
1212000
Bayesian analysis and risk assessment in genetic counseling and testing
S Ogino, RB Wilson
The Journal of Molecular Diagnostics 6 (1), 1-9, 2004
1112004
Ferroptosis as a novel therapeutic target for Friedreich’s ataxia
MG Cotticelli, S Xia, D Lin, T Lee, L Terrab, P Wipf, DM Huryn, RB Wilson
Journal of Pharmacology and Experimental Therapeutics 369 (1), 47-54, 2019
1092019
A0001 in Friedreich ataxia: biochemical characterization and effects in a clinical trial
DR Lynch, SM Willi, RB Wilson, MG Cotticelli, KW Brigatti, EC Deutsch, ...
Movement Disorders 27 (8), 1026-1033, 2012
922012
SRA5 encodes the low-Km cyclic AMP phosphodiesterase of Saccharomyces cerevisiae
RB Wilson, K Tatchell
Molecular and Cellular Biology, 1988
911988
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