Results 41 to 50 of about 6,801 (167)

Cellular and molecular mechanisms underlying muscular dystrophy [PDF]

, 2014
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core   +1 more source

Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States [PDF]

, 2016
Background: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems.
Mann, Joshua, McDermott, Suzanne, Reichard, Amanda, Royer, Julie, Ruttenber, Margaret, Smith, Michael G., Valdez, Rodolfo   +6 more
core   +3 more sources

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

Annals of Clinical and Translational Neurology, 2021
Exome sequencing (ES) has revolutionized rare disease management, yet only ~25%–30% of patients receive a molecular diagnosis. A limiting factor is the quality of available phenotypic data.
Daniel G. Calame, Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Tadahiro Mitani, Shalini N. Jhangiani, Dana Marafi, Richard A. Gibbs, Jennifer E. Posey, Vidya P. Mehta, Carrie A. Mohila, Farida Abid, Timothy E. Lotze, Davut Pehlivan, Adekunle M. Adesina, James R. Lupski   +16 more
doaj   +1 more source

Physiology of respiratory disturbances in muscular dystrophies [PDF]

, 2016
Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e.
Aliverti, Andrea, Lo Mauro, Maria Antonella   +1 more
core   +2 more sources

Altered modulation of lamin A/C-HDAC2 interaction and p21 expression during oxidative stress response in HGPS [PDF]

, 2018
Defects in stress response are main determinants of cellular senescence and organism aging. In fibroblasts from patients affected by Hutchinson-Gilford progeria, a severe LMNA-linked syndrome associated with bone resorption, cardiovascular disorders, and
Andrenacci, Davide, Cicchilitti, Lucia, Di Blasio, Anna Maria, Garofalo, Cecilia, Gentilini, Davide, Lattanzi, Giovanna, Mai, Antonello, Mattioli, Elisabetta, Piaggio, Giulia, Prencipe, Sabino, Remondini, Daniel, Scarano, Emanuela, Scotlandi, Katia, Valente, Sergio   +13 more
core   +2 more sources

An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation

Annals of Indian Academy of Neurology, 2012
Emery-Dreifuss myopathy can be associated with a cardiomyopathy and cardiac dysrhythmias. The inheritance pattern of Emery-Dreifuss muscular dystrophy (EDMD) is X linked, whereas EDMD2 is autosomal dominant.
Khushal B Jadhav, Kedarnath K Karpe, Boby V Maramattom   +2 more
doaj   +1 more source

Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies

Biomedicines, 2022
Muscular dystrophies (MDs) are a heterogeneous group of congenital neuromuscular disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and atrophy that leads to progressive muscle disability and loss of ambulation.
Arlek González-Jamett, Walter Vásquez, Gabriela Cifuentes-Riveros, Rafaela Martínez-Pando, Juan C. Sáez, Ana M. Cárdenas   +5 more
doaj   +1 more source

An uncommon variant of rare type of muscular dystrophy [PDF]

, 2017
The muscular dystrophies are a group of hereditary degenerative diseases characterised by progressive myopathy. Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetically heterogenous type of muscular dystrophy characterized by early contractures ...
A., Jayashankar C., Gurucharan, Adoor, Perugu, Pavan Kumar, Santosh, K.V., Somasekar, D. S., V., Ashwath S.   +5 more
core   +1 more source

Multiscale Architecture and Mechanics of the Cell Nucleus: Implications for Disease, Bioengineering and Nanomedicine

Advanced Science, EarlyView.
Nuclear mechanical properties are inherently scale‐dependent, arising from a hierarchical architecture that spans DNA, chromatin, the nuclear envelope, and condensates. Experimental techniques and theoretical models are integrated into a cohesive multiscale framework linking nanoscale structural features to organelle‐level mechanical behavior.
Xinran Liu, Xin Chen, Qingyang Zhao, Weikang Tan, Lingrui Zhu, Kin Liao, Vincent Chan, Nicolae Goga, Winfred O. Larkotey, Yang Li, Yinghui Shi, Wenya Shu, Lin Wang, Weiqing Wang, Tian Jian Lu, Yulong Han   +15 more
wiley   +1 more source

Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation (case report) [PDF]

Arquivos de Neuro-Psiquiatria, 2000
We report on a man that had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows since he was 5 years old . At age 26 he developed tachycardia episodes.
ALZIRA ALVES DE SIQUEIRA CARVALHO, JOSÉ ANTONIO LEVY, PAULO S. GUTIERREZ, SUELY KAZUE NAGAHASHI MARIE, EDUARDO ARGENTINO SOSA, MAURÍCIO SCANAVACA   +5 more
doaj   +1 more source