Results 101 to 110 of about 4,506 (155)

Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities. [PDF]

Int J Mol Sci
Poudel BH, Fletcher S, Wilton SD, Aung-Htut M.   +3 more
europepmc   +1 more source

Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report. [PDF]

Pediatr Rheumatol Online J, 2013
Jethwa H, Jacques TS, Gunny R, Wedderburn LR, Pilkington C, Manzur AY.   +5 more
europepmc   +1 more source

Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report. [PDF]

Mol Syndromol
Hauschild LA, Seixas Maia da Silva T, Winckler PB, Moreira Cardoso-Júnior L, Saute JAM, Donis KC.   +5 more
europepmc   +1 more source

Oligomer-dependent and oligomer-independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3. [PDF]

J Biol Chem
Hisatsune C, Shinkai-Ouchi F, Hata S, Ono Y.   +3 more
europepmc   +1 more source

Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness. [PDF]

Neurol Genet
James MK, Iammarino MA, Reash NF, Steiner CL, Knight AB, Smith MA, Moat D, Michell-Sodhi J, Wong KSW, Grover E, Robinson EJ, Mayhew AG, Eagle M, Elseed M, Guglieri M, Straub V, Marini-Bettolo C, Muni-Lofra R, Diaz-Manera J, Lowes LP, Alfano LN.   +20 more
europepmc   +1 more source

Pediatric HyperCKemia: a 13-year retrospective study and predictors of neuromuscular disease and metabolic myopathy. [PDF]

Eur J Pediatr
Aires Martins I, Baptista de Lima J, Coelho MP, Bandeira A, Martins E, Correia J.   +5 more
europepmc   +1 more source

Trigger-Free Neuraxial Anaesthesia for Emergency Evacuation of Retained Products of Conception in Limb-Girdle Muscular Dystrophy: A Case Report and Literature Review. [PDF]

Cureus
AlAamer R, Alanzi A, Alatefi D, Alselaiti AA.   +3 more
europepmc   +1 more source

The changed transcriptome of muscular dystrophy and inflammatory myopathy : contributions of non-coding RNAs to muscle damage and recovery [PDF]

, 2019
De Paepe, Boel
core   +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

Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions. [PDF]

World J Methodol
Al-Beltagi M, Saeed N, Bediwy A, Elbeltagi R.   +3 more
europepmc   +1 more source