Results 101 to 110 of about 2,278 (204)

Parents as First Responders: Experiences of Emergency Care in Children with Nemaline Myopathy: A Qualitative Study

Nursing Reports
Background: Nemaline myopathy is a rare congenital neuromuscular disease associated with progressive weakness and frequent respiratory complications. In emergency situations, families often serve as the first and only responders. The aim of this study is
Raúl Merchán Arjona, Juan Francisco Velarde-García, Enrique Pacheco del Cerro, Alfonso Meneses Monroy   +3 more
doaj   +1 more source

The clinicopathological characteristics analysis and differential diagnosis of muscle disorder cases with nemaline⁃shaped structure

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective Summarize the pathological and clinical characteristics of muscle disorder cases with nemaline⁃shaped structure, to improve the diagnosis and differential diagnosis of the disease.
ZHENG Dan⁃feng, LI Chun⁃yao, LIU Xiang⁃yi, GUO Wen⁃yang, MENG Qing⁃yang, ZHONG Yan⁃feng, ZHANG Ying⁃shuang   +6 more
doaj   +1 more source

Molecular genetics of cardiomyopathy: changing times, shifting paradigms [PDF]

, 2003
The original publication is available at http://www.cvja.co.za/Includes bibliographyCongestive heart failure is a major problem in developed and developing countries alike.
Brink, Paul A., Corfield, Valerie A., Mayosi, Bongani M., Moolman-Smook, Johanna C.   +3 more
core  

An update on malignant hyperthermia diagnostics and anaesthetic machine preparation for patients at risk in Africa [PDF]

, 2018
The EMHG first published its protocol for an in vitro contracture test (IVCT) in 19841 and this has ever since formed the bedrock of clinical diagnosis and phenotyping.
Brand, JC, Hopkins, PM
core  

Myopathology of Congenital Myopathies: Bridging the Old and the New [PDF]

, 2019
Congenital myopathies (CM) are a genetically heterogeneous group of neuromuscular disorders most commonly presenting with neonatal/childhood-onset hypotonia and muscle weakness, a relatively static or slowly progressive disease course, and originally ...
Phadke, R
core  

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common

Molecular Genetics & Genomic Medicine
Background Targeted next generation sequence analyses in a cohort of 961 previously described patients with clinically suspected Duchene muscular dystrophy (DMD) revealed that 145/961 (15%) had variants in genes associated with other muscular dystrophies
Priya Karthikeyan, Shalini H. Kumar, Arati Khanna‐Gupta, Lakshmi Bremadesam Raman   +3 more
doaj   +1 more source

Establishing prevalence in rare neuromuscular diseases: A lesson from congenital myopathies [PDF]

, 2017
Bamaga, Ahmed K., Weihl, Conrad C.
core   +2 more sources

Understanding the role of KLHL41 interactors in nemaline myopathy [PDF]

, 2016
Nemaline Myopathy is a congenital disorder that is characterized by muscle weakness and limited mobility. Clinically, Nemaline Myopathy is highly heterogeneous, ranging from severe congenital forms with neonatal death to more mild childhood and adult ...
Jirka, Caroline
core   +1 more source

Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature [PDF]

, 2015

core   +1 more source

Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the \u3cem\u3eActa1\u3c/em\u3e H40Y Murine Model of Nemaline Myopathy [PDF]

, 2016
Allen, Kenneth P., Beggs, Alan H., Dasgupta, Mahua, Fitts, Robert, Hardeman, Edna C., Hoffmann, Raymond G., Lawlor, Michael W., Liu, Fujun, Meng, Hui, Pearsall, R. Scott, Tinklenberg, Jennifer, Yang, Lin   +11 more
core   +1 more source