Results 101 to 110 of about 2,221 (162)

Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family. [PDF]

Int J Genomics
Baghshomali S, Jebelli A, Kazemzadeh M, Jalalypour F, Yazdchi M, Mokhtarzadeh AA, Emrahi L.   +6 more
europepmc   +1 more source

Local Non-Coding Regulatory Elements in Muscular Dystrophies. [PDF]

Int J Mol Sci
Wilton-Clark H, Rodriguez SH, Yokota T, Yokota T.   +3 more
europepmc   +1 more source

Initial presentation with elevated transaminases and subsequent hematuria in limb-girdle muscular dystrophy type 2B: A case report. [PDF]

Medicine (Baltimore)
Ji Z, Zheng H, Yang Y, Li D, Li Z, Guo X.   +5 more
europepmc   +1 more source

Climate emergency coping scale: development and validation of a multidimensional scale. [PDF]

Front Psychol
Díaz-Silveira C, Latorre F, Ganitsky-Chemby P, Burgos-Julián F, Vecina ML.   +4 more
europepmc   +1 more source

Phosphatidic acid drives spatiotemporal distribution of Pex30 at ER-LD contact sites. [PDF]

J Cell Biol
House M, Khadayat K, Trybala TN, Nambiar N, Jones E, Abel SM, Baccile J, Joshi AS.   +7 more
europepmc   +1 more source

DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation. [PDF]

JCI Insight
Bruge C, Bourg N, Pellier E, Miagoux Q, Benabides M, Grossi N, Hayat H, Jarrige M, Polveche H, Agostini V, Brureau A, Vassilopoulos S, Evangelista T, Fernández-Eulate G, Stojkovic T, Richard I, Nissan X.   +16 more
europepmc   +1 more source

Limb-girdle muscular dystrophy type R2 manifesting as fetal growth restriction in a woman with two pregnancies: a case report. [PDF]

Gynecol Pelvic Med
Fu KY, Wei Q.
europepmc   +1 more source

Pex30-dependent membrane contact sites maintain ER lipid homeostasis. [PDF]

J Cell Biol
Ferreira JV, Ahmed Y, Heunis T, Jain A, Johnson E, Räschle M, Ernst R, Vanni S, Carvalho P.   +8 more
europepmc   +1 more source

Limb-Girdle Muscular Dystrophy Type 2B and Morbihan Disease: A Case Report With an Atypical Presentation. [PDF]

Cureus
Briceño Moya F, Hernández Hernández AB, Delgado Carmona DK.   +2 more
europepmc   +1 more source

FlyDEGdb knowledge base on differentially expressed genes of Drosophila melanogaster, a model object in biomedicine. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Podkolodnaya OA, Deryuzhenko MA, Tverdokhleb NN, Zolotareva KA, Makovka YV, Podkolodny NL, Suslov VV, Chadaeva IV, Fedoseeva LA, Seryapina AA, Oshchepkov DY, Bogomolov AG, Kondratyuk EY, Redina OE, Markel AL, Gruntenko NE, Ponomarenko MP.   +16 more
europepmc   +1 more source