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Office
601 Elmwood Ave
Rochester, NY 14642Phone+1 585-275-5006Fax+1 585-273-1255
Education & Training
Johns Hopkins UniversityResidency, Internal Medicine, 1972 - 1974
Boston Children’s Hospital/Beth Israel Deaconess Medical Center/Harvard Medical SchoolResidency, Child Neurology, 1969 - 1972
Presbyterian Medical Center of the University of Pennsylvania Health SystemInternship, Transitional Year, 1966 - 1967
Perelman School of Medicine at the University of PennsylvaniaClass of 1966
Certifications & Licensure
NY State Medical License 1974 - 2020- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
Clinical Trials
- Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy Start of enrollment: 1993 Dec 01
- Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry Start of enrollment: 2000 Sep 01
- Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1 Start of enrollment: 2007 Dec 01
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Publications & Presentations
PubMed
- 397 citationsFailure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophyXiaoyan Lin, Jill Miller, Ami Mankodi, Rahul N. Kanadia, Yuan Yuan
Human Molecular Genetics. 2006-07-01 - 87 citationsCancer Risk Among Patients With Myotonic Muscular DystrophyShahinaz M. Gadalla, Marie Lund, Ruth M. Pfeiffer, Sanne Gørtz, Christine M. Mueller
JAMA. 2011-12-14 - 36 citationsCorrelates of Tumor Development in Patients with Myotonic DystrophyMaya Das, Richard T. Moxley, James E. Hilbert, William B. Martens, Lisa Letren
Journal of Neurology. 2012-05-23
Press Mentions
Some Muscular Dystrophy Patients at Increased Risk for CancerDecember 13th, 2011- From Lab to Life-Changer: URMC Neuromuscular Researchers Pave the Way for Gene Therapy RevolutionOctober 28th, 2023
Grant Support
- 8th International Myotonic Dystrophy Consortium MeetingNational Institute Of Neurological Disorders And Stroke2011
- Phase 2 Study Of Mexiletine For The Treatment Of Myotonic DystrophyFood And Drug Administration2011
- Repository And Registry Of Myotonic Dystrophy CoreNational Institute Of Neurological Disorders And Stroke2008–2011
- Overall ReviewNational Institute Of Neurological Disorders And Stroke2008–2011
- Disease Progression In Myotonic DystrophyNational Institute Of Neurological Disorders And Stroke2008–2011
- Administrative CoreNational Institute Of Neurological Disorders And Stroke2008–2011
- Muscular Dystrophy Cooperative Research CenterNational Institute Of Neurological Disorders And Stroke2003–2011
- 7th International Myotonic Dystrophy Consortium MeetingNational Institute Of Neurological Disorders And Stroke2009
- Sixth International Myotonic Dystrophy Consortium MeetingNational Institute Of Neurological Disorders And Stroke2007
- Effects Of Somatokine In Myotonic Dystrophy Type 1National Institute Of Neurological Disorders And Stroke2003–2007
- Trial Of Mexiletine In Myotonic DystrophyNational Center For Research Resources2004
- Registry Of Arrhythmias In Myotonic Muscular DystrophyNational Center For Research Resources2000–2002
- Myotonic Dystrophy--Muscle Wasting And Altered MetabolismNational Center For Research Resources1998–2002
- Troglitazone Treatment Of Myotonic DystrophyNational Center For Research Resources1997–2002
- Phenotype-Genotype And Insulin Resistance In Myotonic DystrophyNational Center For Research Resources1996–2001
- Natural History Of Neuromuscular Disorders--Needle BiopsyNational Center For Research Resources1996–2001
- National Registry For Myotonic DystrophyNational Institute Of Arthritis And Musculoskeletal And Skin Diseases2000
- Myotonic Dystrophy--Muscle Wasting &Altered MetabolismNational Institute Of Arthritis And Musculoskeletal And Skin Diseases1997–1999
- Deflazacort VS Prednisone In Duchenne/Becker Muscular DystrophyNational Center For Research Resources1996–1997
- Metabolic Studies--Growth Hormone In Patients With Neuromuscular DiseaseNational Center For Research Resources1996
- Metabolic Studies--Turner Mosaic SyndromeNational Center For Research Resources1993
- Metabolic Studies--Insulin Sensitivity Following Glucose ChallengeNational Center For Research Resources1993
- Metabolic Studies--Growth Hormone In Patients With Neuromuscular DisordersNational Center For Research Resources1992–1993
- Metabolic Studies--Cellular And Forearm Studies Of Insulin ActionNational Center For Research Resources1992–1993
- Insulin Action And Mutant Insulin ReceptorsNational Institute Of Diabetes And Digestive And Kidney Diseases1992
- Metabolic Studies--Prednisone/Azathioprine Trial In Duchenne DystrophyNational Center For Research Resources1992
- Anabolic Actions Of Insulin In Neuromuscular DiseaseNational Institute Of Arthritis And Musculoskeletal And Skin Diseases1989–1992
- Rapid Increases In Insulin SensitivityNational Institute Of Diabetes And Digestive And Kidney Diseases1987–1989
- Intermediary Metabolism In Amyotrophic Lateral SclerosisNational Center For Research Resources1985
- Altered Insulin Sensitivity In Myotonic DystrophyNational Center For Research Resources1985
- Rapid Increases In Insulin SensitivityNat Inst Of Arthritis, Diabetes, Digestive &Kidney Diseases1985
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