Results 111 to 120 of about 283,904 (179)

Females with X-Linked Muscle Disorders: an underestimated patient population. [PDF]

Acta Myol
Politano L.
europepmc   +1 more source

LEM-Domain-Containing Inner Nuclear Membrane Proteins: Emerging Regulators of Intranuclear Signaling. [PDF]

Int J Mol Sci
Lee B, Lee H, Shim J.
europepmc   +1 more source

National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan. [PDF]

Aging (Albany NY)
Okawa Y, Matsuo M, Kosaki R, Tonoki H, Fujimoto M, Ozono K, Saitou H, Kubota T, Ohata Y, Namba N, Akaboshi S, Komaki H, Inagaki N, Kato E, Maruo Y, Yonekawa T, Nakamura T, Hayashi K, Miwa S, Magota M, Ihara K.   +20 more
europepmc   +1 more source

Adult-onset PLEC-related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness. [PDF]

Neurogenetics
Jose A, Azily AJ, Doyle K, Stals K, Lees H, McKenna C, McKnight AJ, McConville J, McMacken G.   +8 more
europepmc   +2 more sources

Local Non-Coding Regulatory Elements in Muscular Dystrophies. [PDF]

Int J Mol Sci
Wilton-Clark H, Rodriguez SH, Yokota T, Yokota T.   +3 more
europepmc   +1 more source

Lessons learned from a muscle study in nail-patella syndrome. [PDF]

Orphanet J Rare Dis
Paul L, Schänzer A, Depienne C, Hentschel A, Kohlschmidt N, Schara-Schmidt U, Nelke CJ, Roos A, Kölbel H.   +8 more
europepmc   +1 more source

Enhancing Mobility: Surgical Deformity Correction and Rehabilitation in Emery-Dreifuss Muscular Dystrophy Type 2. [PDF]

Cureus
Debnath A, Athani B, Das J, Chandini NC.
europepmc   +1 more source

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders. [PDF]

Int J Mol Sci
Lee CL, Chang YH, Chuang CK, Chiu HC, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP.   +8 more
europepmc   +1 more source

Anti-myogenic and profibrotic effect of serum from patients affected by muscular laminopathies. [PDF]

Acta Myol
Schena E, Pini A, Cavalcante P, Siciliano G, Ricci G.   +4 more
europepmc   +1 more source

Comparative Analysis of Splicing Alterations in Three Muscular Dystrophies. [PDF]

Biomedicines
Todorow V, Hintze S, Schoser B, Meinke P.   +3 more
europepmc   +1 more source