Results 81 to 90 of about 2,221 (162)

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

open access: yesBiomolecules
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

Dysferlin (DYSF) [PDF]

open access: yesScience-Business eXchange, 2014
openaire   +1 more source

Dysferlin (DYSF); proteasome [PDF]

open access: yesScience-Business eXchange, 2012
openaire   +1 more source

Фазовые диаграммы систем SrF2-GdSF, SrF2-DySF

open access: yesВестник Тюменского государственного университета. Социально-экономические и правовые исследования, 2011
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

open access: yesBMC 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   +11 more
doaj   +1 more source

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

open access: yesBMC Pediatr
Bardakov SN   +9 more
europepmc   +1 more source

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