Robert B. Wilson

发表

Genetic risk assessment in carrier testing for spinal muscular atrophy.

W. Ewens, S. Ogino, D. Leonard, 2002, American journal of medical genetics.

Genetic testing and risk assessment for spinal muscular atrophy (SMA)

Shuji Ogino, S. Ogino, Robert B. Wilson, 2002, Human Genetics.

Practical and Educational Challenges

Shuji Ogino, Margaret L. Gulley, Robert B. Wilson, 2007 .

A Random shRNA-Encoding Library for Phenotypic Selection and Hit-Optimization

Yun E. Wang, Robert B. Wilson, Yongping Wang, 2008, PloS one.

Transferrin receptor hyperexpression in primary erythroblasts is lost on transformation by avian erythroblastosis virus.

H. Beug, Robert B. Wilson, I. Killisch, 2002, Blood.

Guidelines for internal validation of the HLA-DQα DNA typing system

Robert B. Wilson, R. Shaler, H. Baum, 1994 .

Detection of clonal T-cell receptor gamma gene rearrangements using fluorescent-based PCR and automated high-resolution capillary electrophoresis.

D. Leonard, H. Rennert, Robert B. Wilson, 2001 .

Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich’s ataxia

Elaine S. Ho, B. Himes, M. Napierala, 2022, Journal of lipid research.

Antioxidant use in Friedreich ataxia

S. Subramony, T. Ashizawa, S. Perlman, 2008, Journal of the Neurological Sciences.

Plasma and Pancreatic Insulin Concentrations in Adult Squirrel and Rhesus Monkeys

Robert B. Wilson, P. Newberne, Julio M. Martin, 1971, Diabetes.

Urinary isoprostanes in Friedreich ataxia: Lack of correlation with disease features

Robert B. Wilson, D. Lynch, J. Lawson, 2008, Movement disorders : official journal of the Movement Disorder Society.

Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome.

Tim G St Pierre, K. Manova-Todorova, Robert B. Wilson, 2002, Investigative ophthalmology & visual science.

Carrier frequency of spinal muscular atrophy

S. Ogino, Robert B. Wilson, 2008, The Lancet.

Bayesian Risk Assessment in Genetic Testing for Autosomal Dominant Disorders with Age-Dependent Penetrance

B. Gold, S. Ogino, Robert B. Wilson, 2007, Journal of Genetic Counseling.

The practice of science at its best.

S. Ogino, Robert B. Wilson, 2003, Fertility and sterility.

Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1

S. Ogino, D. Leonard, Robert B. Wilson, 2003, European Journal of Human Genetics.

Quantification of PCR bias caused by a single nucleotide polymorphism in SMN gene dosage analysis.

S. Ogino, Robert B. Wilson, 2002, The Journal of molecular diagnostics : JMD.

Spinal muscular atrophy genetic testing experience at an academic medical center.

S. Ogino, D. Leonard, H. Rennert, 2002, The Journal of molecular diagnostics : JMD.

Detection of Clonal T-cell Receptor γ Gene Rearrangements Using Fluorescent-based PCR and Automated High-resolution Capillary Electrophoresis

D. Leonard, H. Rennert, Robert B. Wilson, 2012, Molecular Diagnosis.

Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology.

S. Ogino, Robert B. Wilson, N. Nagan, 2011, The Journal of molecular diagnostics : JMD.

Dimethyihydrazine-induced colon tumors in rats fed diets containing beef fat or corn oil with and without wheat bran 1 ’ 2

Robert B. Wilson, D. Hutcheson, L. Wideman, 2005 .

Ferroptosis as a Novel Therapeutic Target for Friedreich’s Ataxia

P. Wipf, D. Huryn, Robert B. Wilson, 2019, The Journal of Pharmacology and Experimental Therapeutics.

The Role of Serum Levels of Neurofilament Light (NfL) Chain as a Biomarker in Friedreich Ataxia

Robert B. Wilson, D. Lynch, K. Schadt, 2021, Frontiers in Neuroscience.

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

Sarah C. Milne, A. Koeppen, A. Durr, 2022, Orphanet Journal of Rare Diseases.

Identification of a Novel Oleic Acid Analog with Protective Effects in Multiple Cellular Models of Friedreich Ataxia.

D. Huryn, Robert B. Wilson, Kexin Xu, 2020, ACS chemical neuroscience.

Insights into the role of oxidative stress in the pathology of Friedreich ataxia using peroxidation resistant polyunsaturated fatty acids

M. Shchepinov, Robert B. Wilson, M. Cotticelli, 2013, Redox biology.

Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

Robert B. Wilson, D. Roof, 1997, Nature Genetics.

New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations

B. Gold, S. Ogino, Robert B. Wilson, 2004, European Journal of Human Genetics.

Phenotypic Screening for Friedreich Ataxia Using Random shRNA Selection

Robert B. Wilson, F. Acquaviva, Avinash Kaur, 2015, Journal of biomolecular screening.

Localization of BRCA 1 and a Splice Variant Identifies the Nuclear Localization Signal

F. Couch, B. Weber, Yi Peng, 1996 .

Suppressors of RAS Function in Saccharomyces cerevisiae

L. C. Robinson, Robert B. Wilson, K. Tatchell, 1986 .

Introduction of Mismatches in a Random shRNA-Encoding Library Improves Potency for Phenotypic Selection

Robert B. Wilson, Yongping Wang, J. S. Speier, 2014, PloS one.

Increased IRP1 activity in Friedreich ataxia.

Robert B. Wilson, L. Lobmayr, D. Brooks, 2005, Gene.

Studies on Pregnandiol

L. M. Randall, A. E. Osterberg, Robert B. Wilson, 1939 .

Lipid Peroxidation and atherosclerosis

Robert B. Wilson, P. Newberne, 1976 .

Unanswered Questions in Friedreich Ataxia

Robert B. Wilson, G. Tennekoon, D. Lynch, 2012, Journal of child neurology.

Spinal muscular atrophy: molecular genetics and diagnostics

S. Ogino, Robert B. Wilson, 2004, Expert review of molecular diagnostics.

SMN dosage analysis and risk assessment for spinal muscular atrophy.

Shuji Ogino, S. Ogino, Robert B. Wilson, 2002, American journal of human genetics.

Frataxin levels in peripheral tissue in Friedreich ataxia

S. Subramony, C. Gomez, S. Perlman, 2015, Annals of clinical and translational neurology.

Genotype and haplotype distributions of MTHFR 677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis

S. Ogino, Robert B. Wilson, 2003, Journal of Human Genetics.

Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments.

N. E. Babady, R. Wells, Robert B. Wilson, 2007, Molecular genetics and metabolism.

Bayesian analysis and risk assessment in genetic counseling and testing.

Shuji Ogino, Robert B Wilson, S. Ogino, 2004, The Journal of molecular diagnostics : JMD.

Alpha-synuclein-induced aggregation of cytoplasmic vesicles in Saccharomyces cerevisiae.

J. Trojanowski, C. Burd, Robert B. Wilson, 2007, Molecular biology of the cell.

Comment on SMN2 deletion in childhood-onset spinal muscular atrophy.

S. Ogino, Robert B. Wilson, V. V. van Deerlin, 2002, American journal of medical genetics.

Importance of standard nomenclature for SMN1 small intragenic (“subtle”) mutations

Shuji Ogino, S. Ogino, Robert B. Wilson, 2004, Human mutation.

Iron dysregulation in Friedreich ataxia.

Robert B. Wilson, 2006, Seminars in pediatric neurology.

Experimental Therapeutics for Friedreich's Ataxia

Robert B. Wilson, 2006 .

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late‐onset Friedreich ataxia

E. Frackelton, Robert B. Wilson, D. Lynch, 2008, Movement disorders : official journal of the Movement Disorder Society.

2003 International Friedreich's Ataxia Research Conference, 14–16 February 2003, Bethesda, MD, USA

Robert B. Wilson, H. Puccio, H. Seznec, 2004, Neuromuscular Disorders.

Near infrared muscle spectroscopy in patients with Friedreich's ataxia

B. Chance, L. Balcer, Robert B. Wilson, 2002, Muscle & nerve.

Pharmacotherapy for Friedreich Ataxia

Robert B. Wilson, D. Lynch, A. Tsou, 2009, CNS drugs.

Pelvic pain: A follow-up study☆

Robert B. Wilson, R. D. Mussey, 1941 .

A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial

William Shrader, Guy Miller, Robert B. Wilson, 2012, Movement disorders : official journal of the Movement Disorder Society.

Frataxin and frataxin deficiency in Friedreich's ataxia

Robert B. Wilson, 2003, Journal of the Neurological Sciences.

The Hereditary Ataxias

S. Pulst, H. Paulson, A. Koeppen, 1998, The Cerebellum.

T. Ashizawa, S. Perlman, K. Mathews, 2008, Journal of the Neurological Sciences.

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges.

Johan T den Dunnen, Shuji Ogino, M. Gulley, 2007, The Journal of molecular diagnostics : JMD.

Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design

K. Bushara, T. Ashizawa, S. Perlman, 2010, Movement disorders : official journal of the Movement Disorder Society.

Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy.

L. Balcer, Robert B. Wilson, D. Lynch, 2002, Archives of neurology.

Therapeutic Developments in Friedreich Ataxia

Robert B. Wilson, 2012, Journal of child neurology.

Increased serum transferrin receptor concentrations in Friedreich ataxia

K. Fischbeck, Robert B. Wilson, D. Lynch, 2000, Annals of neurology.

Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia

K. Fischbeck, Robert B. Wilson, D. Lynch, 1998, Annals of neurology.

RNA testing now automated.

Larry J Kricka, L. Kricka, Robert B. Wilson, 2015, Clinical chemistry.

Efficacy and safety of idebenone in the treatment of Friedreich ataxia: a review of early results and future prospects

D. Lynch, Robert B. Wilson, Lisa S. Friedman, 2008 .

Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale

M. Hallett, D. Lynch, K. Fischbeck, 2005, Neurology.

Mortality in Friedreich's Ataxia.

Robert B. Wilson, D. Lynch, J. Farmer, 2007, Texas Heart Institute journal.

Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy.

L. Balcer, Robert B. Wilson, D. Lynch, 2002, Archives of neurology.

A Novel Metric for Predicting Severity of Disease Features in Friedreich's Ataxia

S. Kessler, Robert B. Wilson, D. Lynch, 2023, Movement disorders : official journal of the Movement Disorder Society.