Center for Genetic Muscle Disorders: Publications and Additional Resources

Recent Publications from the Center (Since 2010):

Clinical Care

Chagarlamudi H, Corbett A, Stoll M, Bibat G, Grosmann C, Stock CM, Stinson N, Shapiro J, Wagner KR.  Bone health in facioscapulohumeral muscular dystrophy:  A cross-sectional study.  Muscle Nerve 2017, 55(3): 333-337.  PMID 28214289.

Tanawuttiwat T, Wagner KR, Tomaselli G, Nazarian S.  Left ventricular dysfunction and conduction disturbances in patient with myotonic muscular dystrophy type I and II.  JAMA Cardiol.  2017, 2(2): 225-228. 

Judge DP, Kass DA, Thompson WR, Wagner KR.  Pathophysiology and therapy of cardiac dysfunction in Duchenne muscular dystrophy.  Am J Cardiovasc Drugs 11(5):  387-294, 2011. PMID: 21812510

Leung D, Germaine-Lee E, Denger B and Wagner KR.  Report on the Second Endocrine Aspects of Duchenne Muscular Dystrophy Conference.  Neuromuscular Disorders, 21(8): 594-601, 2011. PMID: 21763136

Bushby K, and the DMD Care Considerations Working Group.  The Diagnosis and Management of Duchenne Muscular Dystrophy—Part 2.  Implementation of Multidisciplinary Care.  Lancet Neurlogy, 9: 177-189, 2010.  PMID: 19945914

Bushby K, and the DMD Care Considerations Working Group.  The Diagnosis and Management of Duchenne Muscular Dystrophy—Part 1.  Diagnosis, Pharmacological and Psychological Management.  Lancet Neurology, 9: 77-93, 2010. PMID: 19945913

Clinical Research

Eichinger K, Heatwole C, Heininger S, Stinson N, Matichak Stock C, Grosmann C, Wagner KR, Tawil R, Statland JM, FSHD Clinical Trials Research Network.  Validity of the Six Minute Walk Test in Facioscapulohumeral muscular dystrophy.  Muscle Nerve 2016.  PMID 27421252.

Leung D, Carrino J, Wagner KR, Jacobs, M.  Whole-body MRI evaluation of facioscapulohumeral muscular dystrophy.  Muscle Nerve. 2015.  Jan 16. Doi: 10.1002/mus/24569 [Epub ahead of print]. PMID 25641525

Leung D, Herzka DA, Thompson WR, He B, Bibat G, Tennekoon G, Russell SD, Schuleri KH, Lardo AC, Kass DA, Thompson RE, Judge DP, Wagner KR.  Sildenafil does not improve cardiomyopathy in Duchenne/Becker Muscular Dystrophy.  Ann Neurol. 2014, 76(4): 541-549. PMID: 25042693

Statland JM, McDermott MP, Heatwole C, Martens WB, Pandya S, van der Kooi EL, Kissel JT, Wagner KR, Tawil R.  Reevaluating measures of disease progression in Facioscapulohumeral muscular dystrophy.  Neuromuscul Disord. 2013; 239(4):306-12. PMID: 23406877.

Turkbey EB, Gai N, Lima JA, van der Geest RJ, Wagner KR, Tomaselli GF, Bluemke DA, Nazarian S.  Assessment of cardiac involvement in myotonic muscular dystrophy by T1 mapping on Magnetic Resonance Imaging.  Heart Rhythm 2012. In Press. PMID: 22710483

Laboratory Research

Chen JCJ, King OD, Zhang Y, Clayton NP, Spencer C, Wentworth BM, Emerson CP, Wagner KR. Morpholino-Mediated Knockdown of DUX4 Towards Facioscapulohumeral Muscular Dystrophy Therapeutics.  Molecular Therapy 2016, 24(8):1405-11.  PMID 27378237.

Choudhury SR, Fitzpatrick Z, Harris, AF, Maitland SA, Ferreira JS, Zhang Y, Ma S, Sharma RB, Ray-Edwards HL, Johnson JA, Johnson AK, Alonso LC, Punzo, C, Wagner KR, Maguire CA, Kotin RM, Martin DR, Sena-Esteves M.  In vivo selection yields AAV-B1 capsids for CNS and muscle gene therapy.  Mol Ther. 2016, 24 (7): 1247-57. PMID 27117222.

Choi IY, Lim H, Estrellas K, Mula J, Cohen T, Zhang Y, Donnelly C, Richard JP, Kin Y, Kim H, Kazuki Y, Oshimura M, Rothstein J, Maragakis N, Wagner KR, Lee G. Concordant but varied phenotypes among patient-specific myoblasts of Duchenne muscular dystrophy revealed by human iPSC-based model.  Cell Reports  2016, 15(1): 2301-12. PMID 27239027. 

Kornegay JN, Bogan DJ, Bogan JR, Dow JL, Wang J, Fan Z, Liu N, Warsing L, Grange RW, Ahn M, Balog-Alvarez J, Cotton SW, Willis MS, Brinkmeyer-Langford C, Zhu H, Palandra J, Morris CA, Styner MA, Wagner KR.  Dystrophin-deficient dogs with reduced myostatin have unequal muscle growth and greater joint contractures.  Skeletal Muscle  2016, 6:14.  PMID:27047655 

Moyer AL and Wagner KR.  Mammalian Mss51 is a skeletal muscle-specific gene modulating cellular metabolism.  J Neuromusc Disease.  2015, 2(4):  371-385. PMID26634192.  

Zhang Y, King OD, Rahimov, F, Jones TI, Ward CW, Kerr JP, Liu N, Emerson CP Jr, Kunkel LM, Partridge TA, Wagner KR.  Human skeletal muscle xenograft as a new preclinical model for muscle disorders.  Hum Mol Genet. 2014, 23 (12): 3180-3188.  PMID 24452336.

Li ZB, Zhang J, Wagner KR.  Inhibiting myostatin reverses muscle fibrosis through apoptosis.  J Cell Sci. 2012; 125(17):3957-3965. PMID: 22685331

Kornegay JN, Childers MK, Boan DJ, Bogan JR, Nghiem P, Wang J, Fan Z, Howard JF Jr, Schatzberg SJ, Dow JL, Grange RW, Styner MA, Hoffman EP, Wagner KR.  The paradox of muscle hypertrophy in muscular dystrophy.  Phys Med Rehabil Clin N Am 23(1):  149-172, 2012.  PMID: 22239881

Greenberg SA, Salajegheh M, Judge DP, Feldman MW, Kuncl RW, Waldon Z, Steen H, Wagner KR.  Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.  Ann Neurol.  71(1):  141-145, 2012.  PMID:22275259

Additional Resources:

The Center for Genetic Muscle Disorders has compiled a list of helpful related resources as a service to our users. These links are intended to be used for informational purposes only.

Center Families & Staff Run to End Duchenne

JUNE 18, 2016

Runners at the Dash for Duchenne raise funds for Team Saij which donated $70,000 to the Center for Genetic Muscle Disorders

"In My Mind" Artwork Exhibit

A collection of artwork by individuals with Duchenne muscular dystrophy representing a wide array of interests, techniques, styles, and perspectives.

Learn more 

Resource Finder

 

A free resource that provides access to information and support for individuals and families living with developmental disabilities.