Results 131 to 140 of about 4,001 (193)

Dysferlin and muscular dystrophy

The limb-girdle muscular dystrophies are a highly heterogeneous group of muscle disorders with many different genetic causes now known. Amongst the causes of LGMD, the dysferlin gene stands out as novel for several reasons.
Bushby KMD
core  

Antisense oligonucleotide-mediated exon 27 skipping restores dysferlin function in dysferlinopathy patient-derived muscle cells. [PDF]

Mol Ther Nucleic Acids
Suzuki N.
europepmc   +2 more sources

Boldo Restores Vascularization and Reduces Skeletal Muscle Inflammation in Symptomatic Mice with Dysferlinopathy. [PDF]

Int J Mol Sci
Vásquez W, Troncoso F, Lira A, Escudero C, Sáez JC.   +4 more
europepmc   +1 more source

Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family. [PDF]

Int J Genomics
Baghshomali S, Jebelli A, Kazemzadeh M, Jalalypour F, Yazdchi M, Mokhtarzadeh AA, Emrahi L.   +6 more
europepmc   +1 more source

The fungal peptide toxin candidalysin induces distinct membrane repair mechanisms compared to bacterial pore-forming toxins. [PDF]

Cell Death Discov
Thapa R, Kayejo V, Lyon CM, Hube B, Naglik JR, Keyel PA.   +5 more
europepmc   +1 more source

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2. [PDF]

J Cachexia Sarcopenia Muscle
White Z, Rufibach L, Dressman HG, Hilsden H, Cox D, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Diaz-Manera J, Pegoraro E, Mendell JR, Jain COS Consortium, Straub V, Bernatchez P.   +21 more
europepmc   +1 more source

Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy. [PDF]

Eur J Neurol
He QF, Lin YH, Zheng ZL, Zeng MH, Lin X, Liu XY, Kang-Yang, Zhang QI, Lin MT, Wang N, Wang ZQ, Lin F.   +11 more
europepmc   +1 more source

Structural insights into lipid membrane binding by human ferlins. [PDF]

EMBO J
Cretu C, Chernev A, Kibédi Szabó CZ, Pena V, Urlaub H, Moser T, Preobraschenski J.   +6 more
europepmc   +1 more source

A Late-Onset Presentation of Miyoshi Myopathy: A Case Report. [PDF]

Cureus
Ansari U, Dua A, Aneja E, Amani N, Muttalib Z, Lui F, Chima BS.   +6 more
europepmc   +1 more source

Versatile Microfluidics Platform for Enhanced Multitarget Super-Resolution Microscopy. [PDF]

ACS Nano
Basak S, Vu KC, Mougios N, Oleksiievets N, Pollack YG, Brandenburg S, Opazo F, Lehnart SE, Enderlein J, Tsukanov R.   +9 more
europepmc   +1 more source