Results 141 to 150 of about 14,641 (210)

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

Update of Emerinopathies’ clinical-genetic spectrum: the French network experience [PDF]

, 2015
France Leturcq, Rabah Ben Yaou
core   +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

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype [PDF]

, 2015
Hsiang-Hung Shih, Ichizo Nishino, Megumu Ogawa, Michael Sacher, Satomi Mitsuhashi, Satoru Noguchi, Wen-Chen Liang, Wenhua Zhu, Yuh-Jyh Jong   +8 more
core   +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

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy. [PDF]

Ann Clin Transl Neurol
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC.   +29 more
europepmc   +1 more source

Anesthetic Challenges of a Patient With Limb-Girdle Muscular Dystrophy in a Patient With Colon Cancer. [PDF]

Cureus
Smith A, Yeoh C, Massengill C, Yang W, Mahil A.   +4 more
europepmc   +1 more source

HeartMate 3 Left Ventricular Assist Device Implantation in a Pediatric Patient With Limb-Girdle Muscular Dystrophy. [PDF]

Ochsner J
Zumwalt CM, Boucek K, Wells DA.
europepmc   +1 more source

Muscle-specific Ryanodine receptor 1 properties underlie limb-girdle muscular dystrophy 2B/R2 progression. [PDF]

Nat Commun
Meizoso-Huesca A, Lamboley CR, Krycer JR, Hodson MP, Hudson JE, Launikonis BS.   +5 more
europepmc   +1 more source