Results 111 to 120 of about 615,554 (304)

A Case of Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy in Taiwan: A 4-Year Follow-Up

Case Reports in Medicine
Infantile reversible cytochrome c oxidase (COX) deficiency myopathy is a mitochondrial rare disease with onset age of first day to three months with symptoms of generalized muscle weakness and severe hypotonia. Despite its initial serious conditions, the
Yu-Ting Ma, Ju-Li Lin, Ming-Wei Lai, I-Jun Chou, Mao-Sheng Hwang   +4 more
doaj   +1 more source

Inflammatory myopathies in the elderly [PDF]

Einstein (São Paulo), 2008
Infl ammatory myopathies were analysed according to its differentpresentations, which include dermatomyositis, polymyositis andinclusion body myopathies, especially related to old age.
Edgard Torres dos Reis Neto, Daniel Feldman Pollak   +1 more
doaj  

Coordination of Two Antagonistic Flight Muscles during Wing-Beat of Bumblebee Visualized by Ultrafast X-ray Diffraction Movies [PDF]

, 2003
Clarà Ayats, JosepPla general, lateral, de l'estatuta classicista de nu femení que identificació de la joventut amb la bellesa.
Iwamoto, Hiroyuki, Yagi, Naoto
core   +1 more source

Atrial cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 727-729, April 2025.
Wojciech Kosmala, Monika Przewłocka‐Kosmala   +1 more
wiley   +1 more source

Asynchrony Related to Mechanical Ventilation Exacerbates Diaphragm Dysfunction in a Mouse Model of Duchenne Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims In dystrophic mice (mdx, a genetic homolog of Duchenne muscular dystrophy: DMD), previous studies showed that mechanical ventilation (MV) induces ventilator‐induced diaphragmatic dysfunction (VIDD). However, susceptibility to mechanical stress caused by asynchrony remains unknown.
Mohamad Yehya, Haikel Dridi, Eric Estève, Johan Moreau, Steven Reiken, Andrew R. Marks, Alain Lacampagne, Stefan Matecki   +7 more
wiley   +1 more source

Clinical and pathological characteristics of mitochondrial myopathy and the screening value of simplified serum lactic acid exercise test

Chinese Journal of Contemporary Neurology and Neurosurgery, 2016
Objective To analyze clinical and pathological characteristics of mitochondrial myopathy (MM) in 15 patients, and to study the value of simplified serum lactic acid exercise test in the screening of mitochondrial myopathy.
Xiao-fen ZHU, Ji DING, Xiao-qi ZHU, Yuan-yuan LI, Ai-lian DU   +4 more
doaj  

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. [PDF]

, 2019
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families.
Adams, David, Au, Margaret G, Bai, Renkui, Buckley, David J, Collier, Ashley, Cui, Hong, Diaz, Frank, Gahl, William, Graham, John M, Haude, Katrina, Kim, Jaemin, Lewis, Richard, Mathews, Katherine D, Millian Zamora, Francisca, Otero, Maria G, Panzer, Karin, Pierson, Tyler Mark, Tifft, Cynthia J, Tiongson, Emmanuelle, Toro, Camilo, Turner, Lesley   +20 more
core  

Association between serum bicarbonate and low mid‐upper arm circumference in patients with non‐dialysis‐dependent chronic kidney disease: A cross‐sectional study

Nutrition in Clinical Practice, EarlyView.
Abstract Background Although previous experimental studies showed that metabolic acidosis promoted muscle catabolism and impaired protein synthesis, few epidemiological studies reported an independent association between serum bicarbonate levels and muscle atrophy in patients with chronic kidney disease (CKD).
Nobuhisa Morimoto, Shintaro Mandai, Tamami Fujiki, Fumiaki Ando, Takayasu Mori, Koichiro Susa, Shotaro Naito, Eisei Sohara, Tatsuhiko Anzai, Kunihiko Takahashi, Wataru Akita, Akihito Ohta, Shinichi Uchida, Soichiro Iimori   +13 more
wiley   +1 more source

Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion [PDF]

, 1992
Documenta Ophthalmologica 1992, Volume 82, Issue 1-2, pp 73-79 Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion Dr H. J. Simonsz, K. Bärlocher, A.
A Rötig, A. R�tig, CT Moraes, H. J. Simonsz, HA Pearson, IJ Holt, J Palca, K. B�rlocher   +7 more
core   +2 more sources

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source