Results 101 to 110 of about 1,730 (187)

Assessment of disease progression in dysferlinopathy: A 1-year cohort study [PDF]

, 2019
ObjectiveTo assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.MethodsOne hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical ...
Praxedes N. S. -A., Cnaan A., Paradas C., Pegoraro E., James M. K., Bello L., Berry K. M., Sakamoto C., Siener C., Mittal P., Hutchence M., Shierbecker J., Vandevelde B., Sanjak M., Ollivier G., Krause S., Canal A., Day J. W., Yajima H., Maron E., Jones K. J., Florence J. M., Rocha C. T., Jacobs M., Bushby K., Harms M., Mendez J. B., Lowes L. P., Carlier P. G., Duong T., Mayhew A. G., Rufibach L. E., Lochmuller H., Bettinson K., Tateishi T., Rose K., Fernandez-Torron R., Lofra R. M., Stojkovic T., Spuler S., Thiele S., Diaz-Manera J., Walter M. C., Hilsden H., Blamire A. M., Gee R., Grieben U., Hogrel J. -Y., Decostre V., Moore U., Sparks S., Semplicini C., Pestronk A., Schreiber-Katz O., Pedrosa-Hernandez I., Feng J., Eagle M., Prugel J., Dewolf B., Montiel-Morillo E., Salort-Campana E., Bharucha-Goebel D. X., Bravver E., Ashida A., Mendell J. R., Straub V., Alfano L., Holsten S., Takeda S., Mori-Yoshimura M.   +69 more
core   +1 more source

Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism.

, 2005
Background: The dysferlin gene has recently been shown to be involved in limb girdle muscular dystrophy type 2B and its allelic disease, Miyoshi myopathy, both of which are characterised by an active muscle degeneration and regeneration process ...
CENACCHI, GIOVANNA, DE GIORGI LB, FANIN, MARINA, FANIN M, BADIALI DE GIORGI L, CENACCHI G, ANGELINI, CORRADO, ANGELINI C.   +7 more
core   +1 more source

Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect

Molecular Genetics & Genomic Medicine, 2019
Background Dysferlinopathies are a group of autosomal recessive limb‐girdle muscular dystrophies (LGMDs) caused by mutations in DYSF (#603,009). This gene encodes a transmembrane protein called dysferlin.
Marzieh Mojbafan, Shirzadeh Tina, Fatemeh Zafarghandi Motlagh, Andrei Surguchov, Yalda Nilipour, Sirous Zeinali   +5 more
doaj   +1 more source

Diagnosis of Dysferlinopathies [PDF]

Open Access Journal of Neurology & Neurosurgery, 2019
openaire   +1 more source

Different Phenotypes in Dysferlinopathy

Internal Medicine, 2002
openaire   +3 more sources

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

Peptide-phosphorodiamidate morpholino oligomer therapy for dysferlinopathy induces pseudoexon skipping and restoration of functional protein. [PDF]

JCI Insight
Gooding JE, Park G, Wagh A, Watts JK, Dominov JA, Brown RH.   +5 more
europepmc   +1 more source

Complement C5 Inhibitor Ameliorates a Case of Dysferlinopathy. [PDF]

Neurol Neuroimmunol Neuroinflamm
Kang S, Wang Q, Lv H, Deng J, Zhang W, Lu X, Yuan Y, Wang Z, Zheng F, Yu M.   +9 more
europepmc   +1 more source

Muscle RING finger-1 facilitates skeletal muscle regeneration via regulating myoblast proliferation and differentiation. [PDF]

J Transl Med
Yang M, Ji S, Gao H, Ge H, Han X, Zhan J, Zhang Q, Xu L, Li Y, Tang Z, Bu B.   +10 more
europepmc   +1 more source

<i>DYSF </i>gene variant spectrum in Arab populations across eight countries: A systematic review. [PDF]

Biomol Biomed
Smaili F, Zerrouki K, Aouni FE, Tajir M.
europepmc   +1 more source