Results 121 to 130 of about 2,696 (156)

A Sri Lankan boy with Emery-Dreifuss muscular dystrophy 5 presenting during infancy with persistent transaminitis. [PDF]

BMC Pediatr
Mettananda S, Vipulanayake T, Dineshika G, Suriapperuma T, Rajeindran M, Padeniya P.   +5 more
europepmc   +1 more source

Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery-Dreifuss Muscular Dystrophy. [PDF]

Indian J Radiol Imaging
Biradar B, Valakkada J, Ayyappan A, Alex A.   +3 more
europepmc   +1 more source

<i>LMNA</i> c.1622G>A mutation and myopathic changes in a family with limb-girdle muscular dystrophy: A case report. [PDF]

Exp Ther Med
Zhu Y, Wang Q, Zhang T.
europepmc   +1 more source

Cargo Recognition of Nesprin-2 by the Dynein Adapter Bicaudal D2 for a Nuclear Positioning Pathway That Is Important for Brain Development. [PDF]

Biochemistry
Rodriguez Castro ED, Putta S, Ali MY, Garcia Martin JM, Zhao X, Sylvain S, Trybus KM, Solmaz SR.   +7 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

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

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

Transmembrane Protein 43: Molecular and Pathogenetic Implications in Arrhythmogenic Cardiomyopathy and Various Other Diseases. [PDF]

Int J Mol Sci
Orgil BO, Spaulding MS, Smith HP, Baba Z, Alberson NR, Batsaikhan E, Towbin JA, Purevjav E.   +7 more
europepmc   +1 more source

Ultrasound-Informed State Estimation of Wrist Tremor Dynamics via Koopman Operator for Personalized Sensory Peripheral Nerve Stimulation. [PDF]

IEEE Trans Neural Syst Rehabil Eng
Xue X, Ganesh V, Roque D, Garcia TP, Jiang X, Sharma N.   +5 more
europepmc   +1 more source