Results 51 to 60 of about 7,136 (124)

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene. [PDF]

Int Med Case Rep J
Alghamdi OA, Obaid O, Sayed AG, Farhan H, Sayed J.   +4 more
europepmc   +1 more source

Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods. [PDF]

J Neuromuscul Dis
Bardakov SN, Sorochanu I, Mkrtchyan LA, Slesarenko YS, Tsargush VA, Limaev IS, Isaev AA, Yakovlev IA, Deev RV.   +8 more
europepmc   +1 more source

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

A prospective observational study assessing the functional disease progression of LGMDR4, betasarcoglycan-related limb girdle muscular dystrophy. [PDF]

J Neuromuscul Dis
Iammarino MA, Reash NF, Shannon K, Dugan M, Lehman K, Meyers A, Mendell JR, Alfano LN, Lowes LP.   +8 more
europepmc   +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

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

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

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

Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications. [PDF]

Am J Case Rep
Maya-González C, Díaz De Ståhl T, Wessman S, Taylan F, Tesi B, Lagerstedt-Robinson K, Tettamanti G, Dukic M, Poluha A, Ljungman G, Nordgren A.   +10 more
europepmc   +1 more source

Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related. [PDF]

J Neuromuscul Dis
Valls A, Ruiz-Roldán C, Immanuel J, Camaño P, Poza JJ, Fernández-Torrón R, López de Munain A, Sáenz A.   +7 more
europepmc   +1 more source