Results 101 to 110 of about 1,440 (186)

Phenotypic Drug Screening for Dysferlinopathy Using Patient‐Derived Induced Pluripotent Stem Cells

Stem Cells Translational Medicine, 2019
Dysferlinopathy is a progressive muscle disorder that includes limb‐girdle muscular dystrophy type 2B and Miyoshi myopathy (MM). It is caused by mutations in the dysferlin (DYSF) gene, whose function is to reseal the muscular membrane.
Yuko Kokubu, Tomoko Nagino, Katsunori Sasa, Tatsuo Oikawa, Katsuya Miyake, Akiko Kume, Mikiko Fukuda, Hiromitsu Fuse, Ryuichi Tozawa, Hidetoshi Sakurai   +9 more
doaj   +1 more source

Limb-girdle muscular dystrophies in India: A review

Annals of Indian Academy of Neurology, 2017
Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies.
Satish V Khadilkar, Hinaben Dayalal Faldu, Sarika Bapuso Patil, Rakesh Singh   +3 more
doaj   +1 more source

Semi-quantitative muscle MRI in dysferlinopathy patients: pattern recognition and implications for clinical trials [PDF]

, 2017
Background: The Jain Clinical Outcome Study (COS) is an international study of 203 adults with dysferlinopathy in 8 countries. Patients undergo six visits over three years, during which physiotherapy and medical assessments medical as well as muscle MRI ...
James, M, F.E. Smith, Fernandez-Torrón, R, Straub, V, R. Fernandez-Torrón, Llauger, J, Smith, FE, L. Rufibach, K. Bushby, Mayhew, A, M. James, V. Straub, Rufibach, L, J. Díaz-Manera, Bushby, K, J. Llauger, A. Mayhew, Díaz-Manera, J   +17 more
core   +1 more source

Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue

Indian Journal of Pathology and Microbiology, 2011
Background: Dysferlinopathy is an autosomal recessive-limb girdle muscular dystrophy (AR-LGMD) caused due to the defect in gene encoding dysferlin, a sarcolemmal protein.
N Gayathri, R Alefia, A Nalini, T C Yasha, M Anita, Vani Santosh, S K Shankar   +6 more
doaj   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Patient-reported Clinical Care Experiences while Navigating the Progression of Dysferlinopathy (Limb-Girdle Muscular Dystrophy 2B/R2) [PDF]

, 2022
Thesis (Master's)--University of Washington, 2022Dysferlinopathy is an ultra-rare, autosomal recessive form of limb-girdle muscular dystrophy (LGMD) with no existing treatments or disease-specific clinical care guidelines.
Emmons, Sarah Shira
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

Insights into the heterogeneous muscle lipidome of dysferlin-deficient mice: effects of age, muscle type, and sex

Skeletal Muscle
Dysferlinopathy is an age-dependent muscular dystrophy caused by loss of the membrane-associated protein dysferlin. Disease severity increases with age and selectively affects specific muscle groups, yet the molecular basis for this vulnerability remains
Stacey N. Keenan, Jackie Bayliss, Olivia Lee, Erin M. Lloyd, Peter J. Meikle, Miranda D. Grounds, Matthew J. Watt   +6 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