Results 171 to 180 of about 16,504 (255)

Limb-girdle muscular dystrophy type 2Y with cardiac involvement in a 23-year-old woman: a case report. [PDF]

Eur Heart J Case Rep
Zhang X, Luo Y, Zhao Y, Lu H, Ji X.
europepmc   +1 more source

Homozygous nonsense mutation inSGCAis a common cause of limb-girdle muscular dystrophy in Assiut, Egypt

, 2016
Hemakumar M. Reddy, Sherifa A. Hamed, Monkol Lek, Satomi Mitsuhashi, Elicia Estrella, Michael D. Jones, Lane J. Mahoney, Anna R. Duncan, Kyung-Ah Cho, Daniel G. MacArthur, Louis M. Kunkel, Peter B. Kang   +11 more
openalex   +2 more sources

Muscle MRI in a Rare Case of Limb-Girdle Muscular Dystrophy 1B. [PDF]

Cureus
Bokil SS, Durgi EC, Shah RN, Shukla A, Rawat P.   +4 more
europepmc   +1 more source

Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly [PDF]

, 2002
P. Salmikangas
openalex   +1 more source

Multi-parametric quantitative MRI of the lower limb muscles in a longitudinal study of limb-girdle muscular dystrophy R9. [PDF]

PLoS One
Rauh SS, Baudin PY, Stojkovic T, Birnbaum S, Decostre V, Zanfongnon RL, Fromes Y, Hooijmans MT, Strijkers GJ, Hogrel JY, Olivier S, Marty B, Reyngoudt H.   +12 more
europepmc   +1 more source

RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A. [PDF]

Neurol Genet
Wang G, Liu H, Yang G, Gu S, Yan C, Lin P.   +5 more
europepmc   +1 more source

Limb-girdle muscular dystrophies: Where next after six decades from the first proposal (Review)

, 2014
Omar A. Mahmood, Xin Jiang
openalex   +2 more sources

Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study. [PDF]

Ann Clin Transl Neurol
Alfano LN, James MK, Grosfjeld Petersen K, Rudolf K, Vissing J, Augsburger R, Mozaffar T, Jones A, Butler A, Laubscher KM, Mockler SRH, Mathews KD, Iammarino MA, Reash NF, Pietruszewski L, Lowes LP, Strahler T, Wicklund M, Hunn S, Weihl CC, Sasidharan S, Currence M, Statland JM, Stinson N, Holzer M, Leung DG, Lott DJ, Kang PB, Holsten S, Desai U, Johnson NE, GRASP‐LGMD Consortium.   +31 more
europepmc   +1 more source

Novel POMT2 variants associated with limb-girdle muscular dystrophy R14: genetic, histological and functional studies. [PDF]

Orphanet J Rare Dis
Yang G, Lv X, Wu W, Wang G, Yang M, Feng Y, Yan C, Liu M, Lin P.   +8 more
europepmc   +1 more source

AYURVEDIC MANAGEMENT OF LIMB GIRDLE MUSCULAR DYSTROPHY-A CASE REPORT

Dr Hasina Begum P, Dr Ananth S Desai, Dr Sukesh M K   +2 more
openalex   +1 more source