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2013 Annual Meeting | S05 - Muscular Dystrophy and Inherited Myopathy

Tuesday 03/19/13
01:00 PM - 02:45 PM Add To Calendar
This program will be presented both in-person and online
This program is not expected to be available in the meeting's On Demand product.
Scientific Platform Session
Muscle Disease/Neuromuscular Junction
No CME available
Event Timeline
01:00 PM - 02:45 PM Abstract 001 - Identification of the Epigenetic Modifier of the D4Z4 Epiallele in FSHD2
Sabrina Sacconi, MD
01:00 PM - 02:45 PM Abstract 002 - FSHD2 Gene May Act as (epi)Genetic Modifier for FSHD1
Sabrina Sacconi, MD
01:00 PM - 02:45 PM Abstract 003 - Progressive Hearing Loss in Facioscapulohumeral Muscular Dystrophy Is Associated with Short EcoRI-BlnI Fragments
Katie Lutz, MD
01:00 PM - 02:45 PM Abstract 004 - Ryanodine Receptor RYR1 Gene Mutations in African American Men with Hypertrophied Muscles and Persistently Elevated Serum Creatine Kinase
V V. Vedanarayanan, MD, FRCPC
01:00 PM - 02:45 PM Abstract 005 - Deoxypyrimidine Monophosphates Treatment for Thymidine Kinase 2 Deficiency
Caterina Garone
01:00 PM - 02:45 PM Abstract 006 - Bezafibrate Does Not Improve Fat Oxidation in Patients with Disorders of Fat Metabolism; a Double Blind, Randomized Clinical Trial
John Vissing, MD
01:00 PM - 02:45 PM Abstract 007 - Dual Vector Co-Delivery of nNOS-Recruiting Minidystrophin (?H2-R15/?R18-19) as a Therapeutic Strategy for DMD
Vinod Malik
Faculty Disclosures
Claude J. Desnuelle, MD No disclosure on file
Katherine D. Mathews, MD, FAAN Dr. Mathews has received personal compensation for serving as an employee of Avidity Bioscience. The institution of Dr. Mathews has received research support from NIH. The institution of Dr. Mathews has received research support from Centers for Disease Control and Prevention. The institution of Dr. Mathews has received research support from Muscular Dystrophy Association . The institution of Dr. Mathews has received research support from Friedreich's Ataxia Research Alliance . The institution of Dr. Mathews has received research support from Sarepta . The institution of Dr. Mathews has received research support from Pfizer. The institution of Dr. Mathews has received research support from Reata . The institution of Dr. Mathews has received research support from PTC Therapeutics, Inc. The institution of Dr. Mathews has received research support from Italfarmaco . The institution of Dr. Mathews has received research support from AMO. The institution of Dr. Mathews has received research support from FibroGen. The institution of Dr. Mathews has received research support from Capricor. The institution of Dr. Mathews has received research support from edgewise. The institution of Dr. Mathews has received research support from biogen.
Jerry R. Mendell, MD, FAAN Dr. Mendell has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Vertex. Dr. Mendell has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Novartis. Dr. Mendell has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sarepta Therapeutics . The institution of Dr. Mendell has received research support from Sarepta.
Stephen J. Tapscott, MD, PhD Dr. Tapscott has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Tapscott has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Fulcrum Therapeutics. Dr. Tapscott has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Kate Therapeutics. Dr. Tapscott has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for miRecule. Dr. Tapscott has received intellectual property interests from a discovery or technology relating to health care.
Michio Hirano, MD, FAAN Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB Biopharma SRL. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Precision Biosciences. Dr. Hirano has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB Biopharma SRL. Dr. Hirano has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Apollo Communication. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Envision Communications. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for 好色先生. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Cure SMA. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Muscular Dystrophy Association. The institution of Dr. Hirano has received research support from UCB. The institution of Dr. Hirano has received research support from Cyclerion. Dr. Hirano has received research support from Reneo Pharmaceuticals. The institution of Dr. Hirano has received research support from Astellas. Dr. Hirano has received intellectual property interests from a discovery or technology relating to health care. Dr. Hirano has received intellectual property interests from a discovery or technology relating to health care. Dr. Hirano has received personal compensation in the range of $0-$499 for serving as a Study Section Reviewer with NIH. Dr. Hirano has a non-compensated relationship as a Research Advisory Board member with Muscular Dystrophy Association that is relevant to AAN interests or activities. Dr. Hirano has a non-compensated relationship as a Scientific and Medical Advisory Board member with United Mitochondrial Disease Foundation that is relevant to AAN interests or activities. Dr. Hirano has a non-compensated relationship as a Scientific Advisory Board member with Barth Syndrome Foundation that is relevant to AAN interests or activities.
Jeffrey L. Saver, MD, FAAN Dr. Saver has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Medtronic. Dr. Saver has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Stryker. Dr. Saver has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Cerenovus. Dr. Saver has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Boehringer Ingelheim (prevention only). Dr. Saver has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for American Medical Association. Dr. Saver has received stock or an ownership interest from Rapid Medical.
V V. Vedanarayanan, MD, FRCPC Dr. Vedanarayanan has nothing to disclose.
Alrabi Tawil, MD, FAAN Dr. Tawil has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Kate Therapeutics. Dr. Tawil has received personal compensation in the range of $500-$4,999 for serving as a Consultant for meRicule. The institution of Dr. Tawil has received research support from Friends of FSH Research. The institution of Dr. Tawil has received research support from FSH Society. The institution of Dr. Tawil has received research support from NIH. The institution of Dr. Tawil has received research support from Fulcrum. Dr. Tawil has received intellectual property interests from a discovery or technology relating to health care.
George W. Padberg, MD, PhD, FAAN No disclosure on file
L J. Greenfield, Jr., MD, PhD, FAAN Dr. Greenfield has received publishing royalties from a publication relating to health care.
Margherita Milone, MD, FAAN Dr. Milone has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Neurology Genetics, AAN. The institution of Dr. Milone has received research support from Mayo Clinic, CCaTS-CBD. The institution of Dr. Milone has received research support from Mayo Clinic, SGP Award. The institution of Dr. Milone has received research support from MDA for Care Center grant. The institution of Dr. Milone has received research support from Regenerative medicine Minnesota.
Jayant N. Acharya, MD, DM, FAAN Dr. Acharya has nothing to disclose.
Pascal Laforet No disclosure on file
John Vissing, MD Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dyne Therapeutics. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Solid Biosciences. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amicus therapeutics. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AskBio. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity Therapeutics. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Italfarmaco. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alexion. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Merck. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB Biopharma. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Argenx. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Alexion Pharmaceuticals. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Johnson & Johnson (Janssen). Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Edgewise Therapeutics. The institution of Prof. Vissing has received research support from Rigshospitalet. The institution of Prof. Vissing has received research support from UCB Pharma. The institution of Prof. Vissing has received research support from Sanofi. The institution of Prof. Vissing has received research support from Roche. The institution of Prof. Vissing has received research support from AnJii.
David S. Liebeskind, MD, FAAN Dr. Liebeskind has received research support from Cerenovus. Dr. Liebeskind has received research support from Genentech . Dr. Liebeskind has received research support from Medtronic. Dr. Liebeskind has received research support from Stryker.
Sabrina Sacconi, MD Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving as a Consultant for LUPIN. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for SANOFI. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for BIOGEN. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AMICUS. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB Pharma. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for ALEXION. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for FULCRUM THERAPEUTICS. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for AXELYS. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for OLOGY. The institution of Dr. Sacconi has received research support from Solve FSHD.
Catarina Quinzii Hirano, MD No disclosure on file
Kimberly Vanover, PhD No disclosure on file
No disclosure on file
Louise R. Rodino-Klapac Ms. Rodino-Klapac has received personal compensation for serving as an employee of Sarepta Therapeutics, Inc.. Ms. Rodino-Klapac has received stock or an ownership interest from Sarepta Therapeutics. Ms. Rodino-Klapac has received intellectual property interests from a discovery or technology relating to health care.
Vinod Malik No disclosure on file
Nicolai Preisler No disclosure on file
David J. Sinclair, MD No disclosure on file
Valentina Emmanuele, MD, PhD Dr. Emmanuele has nothing to disclose.
Caterina Garone No disclosure on file
Beatriz Garcia-Diaz No disclosure on file
Orhan H. Akman, PhD No disclosure on file
Katie Lutz, MD No disclosure on file