Results 81 to 90 of about 2,221 (162)
Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This
Saeed Anwar, Toshifumi Yokota
doaj +1 more source
Фазовые диаграммы систем SrF2-GdSF, SrF2-DySF
Впервые построены фазовые диаграммы систем SrF2-GdSF, SrF2-DySF. Соединения SrLn2S2F4 имеют тетрагональную сингонию, пр. гр. I4/mmm, плавятся конгруэнтно: SrGd2S2F4 a = 0,3968 нм, c = 1,9284 нм, Тпл = 1600 К; SrDy2S2F4 a =0,3952 нм, c = 1,9269 нм, Т = 1570 К.
openaire +1 more source
Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report
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 +11 more
doaj +1 more source
Репаративный рабдомиогистогенез у мышей, мутантных по гену DYSF
32 ...
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Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]
Mouloudi N +3 more
europepmc +1 more source
Cosegregation of congenital dysferlinopathy phenotype and marinesco-sjögren syndrome: a case report with literature review. [PDF]
Bardakov SN +9 more
europepmc +1 more source

