Results 121 to 130 of about 4,375 (200)

Dysferlin (DYSF); proteasome [PDF]

Science-Business eXchange, 2012
openaire   +1 more source

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report

BMC Musculoskeletal Disorders
Background Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once ...
Sergey N. Bardakov, Angelina A. Titova, Sergey S. Nikitin, Valentin Nikitins, Margarita O. Sokolova, Vadim A. Tsargush, Elena A. Yuhno, Oleg V. Vetrovoj, Pierre G. Carlier, Yana V. Sofronova, Аrtur А. Isaev, Roman V. Deev   +11 more
doaj   +1 more source

Репаративная регенерация скелетных мышц у животных с мутацией в гене DYSF

, 2019
253 ...
openaire   +1 more source

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]

Acta Myol
Mouloudi N, Kably B, Sefiani S, Birouk N.   +3 more
europepmc   +1 more source

Erratum: Multiple sclerosis severity variant in <i>DYSF-ZNF638</i> locus associates with neuronal loss and inflammation. [PDF]

iScience
Engelenburg HJ, van den Bosch AMR, Chen JQA, Hsiao CC, Melief MJ, Harroud A, Huitinga I, Hamann J, Smolders J.   +8 more
europepmc   +1 more source

Cosegregation of congenital dysferlinopathy phenotype and marinesco-sjögren syndrome: a case report with literature review. [PDF]

BMC Pediatr
Bardakov SN, Emelin AM, Nikitin SS, Suslov VМ, Dmitrochenko IV, Kovalevskaya IS, Korzun PR, Yakovlev IA, Isaev АА, Deev RV.   +9 more
europepmc   +1 more source

Muscle MRI in patients with dysferlinopathy: Pattern recognition and implications for clinical trialP [PDF]

, 2018
et al,, Harms, Matthew, Pestronk, Alan
core   +1 more source

Molecular characterization of a new R1925X point mutation mouse model for dysferlinopathy. [PDF]

Genes Dis
Bouchard C, Despax L, Rousseau J, Tremblay JP.   +3 more
europepmc   +1 more source

Acute Heart Failure Assessment: The Role of Focused Emergency Cardiopulmonary Ultrasound in Identification and Early Management [PDF]

, 2015
Chioncel, Ovidiu, Collins, Sean P., Ferre, Robinson M., Gheorghiade, Mihai, Lang, Roberto M., Pang, Peter S.   +5 more
core   +1 more source

Methylation Landscapes of Cartilage in Hip Osteoarthritis. [PDF]

Genet Res (Camb)
Jiang R, Wang M, Tan G, Lv J, Jin X, Liu Y, Wu R, Shi D.   +7 more
europepmc   +1 more source