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Publications indexed to the term Muscular Dystrophies

FacultyTitle
1Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy. (Morales-Rosado JA, Schwab TL, Macklin-Mantia SK, Foley AR, Pinto E Vairo F, Pehlivan D, Donkervoort S, Rosenfeld JA, Boyum GE, Hu Y, Cong ATQ, Lotze TE, Mohila CA, Saade D, Bharucha-Goebel D, Chao KR, Grunseich C, Bruels CC, Littel HR, Estrella EA, Pais L, Kang PB, Zimmermann MT, Lupski JR, Lee B, Schellenberg MJ, Clark KJ, Wierenga KJ, Bönnemann CG, Klee EW) Am J Hum Genet 2023 Jun 01;110(6):989-997       28 Citations
1Depletion of skeletal muscle satellite cells attenuates pathology in muscular dystrophy. (Boyer JG, Huo J, Han S, Havens JR, Prasad V, Lin BL, Kass DA, Song T, Sadayappan S, Khairallah RJ, Ward CW, Molkentin JD) Nat Commun 2022 May 26;13(1):2940       42 Citations
4Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy. (Helbling DC, Mendoza D, McCarrier J, Vanden Avond MA, Harmelink MM, Barkhaus PE, Basel D, Lawlor MW) J Neuropathol Exp Neurol 2019 Mar 01;78(3):283-287       4 Citations
1NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project. (Lawlor MW, Iannaccone ST, Mathews K, Muntoni F, Alai-Hansen S, Odenkirchen JC, S Feldman R, CMD Working Group) J Neuromuscul Dis 2018;5(1):75-84       2 Citations
1COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study. (Verma S, Goyal P, Guglani L, Peinhardt C, Pelzek D, Barkhaus PE) J Clin Neuromuscul Dis 2018 Mar;19(3):108-116       9 Citations
1CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies. (Alexander MS, Rozkalne A, Colletta A, Spinazzola JM, Johnson S, Rahimov F, Meng H, Lawlor MW, Estrella E, Kunkel LM, Gussoni E) Cell Stem Cell 2016 Dec 01;19(6):800-807       91 Citations
1Triadopathies: an emerging class of skeletal muscle diseases. (Dowling JJ, Lawlor MW, Dirksen RT) Neurotherapeutics 2014 Oct;11(4):773-85       64 Citations
1Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. (Aldinger KA, Mosca SJ, TĂ©treault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J, University of Washington Center for Mendelian Genomics, Care4Rare Canada, Parboosingh JS, Innes AM, Doherty D) Am J Hum Genet 2014 Aug 07;95(2):227-34       101 Citations
1Glycomic analyses of mouse models of congenital muscular dystrophy. (Stalnaker SH, Aoki K, Lim JM, Porterfield M, Liu M, Satz JS, Buskirk S, Xiong Y, Zhang P, Campbell KP, Hu H, Live D, Tiemeyer M, Wells L) J Biol Chem 2011 Jun 17;286(24):21180-90       71 Citations
1Gene transfer establishes primacy of striated vs. smooth muscle sarcoglycan complex in limb-girdle muscular dystrophy. (Durbeej M, Sawatzki SM, Barresi R, Schmainda KM, Allamand V, Michele DE, Campbell KP) Proc Natl Acad Sci U S A 2003 Jul 22;100(15):8910-5       32 Citations
1Structure of the globular tail of nuclear lamin. (Dhe-Paganon S, Werner ED, Chi YI, Shoelson SE) J Biol Chem 2002 May 17;277(20):17381-4       236 Citations
3Spin-lock magnetic resonance imaging of muscle in patients with autosomal recessive limb girdle muscular dystrophy. (Franczak MB, Ulmer JL, Jaradeh S, McDaniel JD, Mark LP, Prost RW) J Neuroimaging 2000 Apr;10(2):73-7       6 Citations
1Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. (Rowin J, Meriggioli MN, Cochran EJ, Sanders DB) Neuromuscul Disord 1999 Oct;9(6-7):417-20       42 Citations
3Magnetization transfer imaging of skeletal muscle in autosomal recessive limb girdle muscular dystrophy. (McDaniel JD, Ulmer JL, Prost RW, Franczak MB, Jaradeh S, Hamilton CA, Mark LP) J Comput Assist Tomogr 1999;23(4):609-14       33 Citations
1Implications of a common polymorphism in intron 12 of the dystrophin gene for deletion detection by multiplex PCR. (Chen B, North PE, Parham DM) Gene 1998 Mar 16;209(1-2):211-7       2 Citations
1Anesthesia-induced rhabdomyolysis in infants with unsuspected Duchenne dystrophy. (Tang TT, Oechler HW, Siker D, Segura AD, Franciosi RA) Acta Paediatr 1992 Sep;81(9):716-9       27 Citations
1Duchenne muscular dystrophy manifesting carriers. (Barkhaus PE, Gilchrist JM) Arch Neurol 1989 Jun;46(6):673-5       26 Citations
1Ketogenic effects of carnitine in patients with muscular dystrophy and cytochrome oxidase deficiency. (Paulson DJ, Hoganson GE, Traxler J, Sufit R, Peters H, Shug AL) Biochem Med Metab Biol 1988 Feb;39(1):40-7       5 Citations
1Pharyngoesophageal motor function in patients with myotonic dystrophy. (Swick HM, Werlin SL, Dodds WJ, Hogan WJ) Ann Neurol 1981 Nov;10(5):454-7       20 Citations