Results 61 to 70 of about 12,116 (229)

Small heat-shock proteins: important players in regulating cellular proteostasis [PDF]

, 2015
Small heat-shock proteins (sHsps) are a diverse family of intra-cellular molecular chaperone proteins that play a critical role in mitigating and preventing protein aggregation under stress conditions such as elevated temperature, oxidation and infection.
Carver, John A., Ecroyd, Heath, Meehan, Sarah, Treweek, Teresa M.   +3 more
core   +1 more source

Clinical Outcome Assessments for Functional Performance in Spastic Paresis: Systematic Review, Critique, and Recommendations

Movement Disorders, EarlyView.
Abstract Background Spastic paresis, resulting from central nervous system lesions, significantly impairs functional performance. In the framework of the International Classification of Functioning, Disability, and Health, functional performance was defined as functioning at the activity level in relation to the impairment of body functions and ...
Martina Hoskovcova, Marjolaine Baude, Bo Biering‐Sørensen, Ota Gal, Mary P Galea, Jean‐Michel Gracies, Carmen Rodriguez‐Blazquez, Theodore Wein, Michelle Hyczy de Siqueira Tosin, Álvaro Sánchez‐Ferro, Tiago A Mestre, Matej Skorvanek, Robert Jech, The members of the MDS Clinical Outcome Assessments Scientific Evaluation Committee and MDS Spasticity Study Group   +13 more
wiley   +1 more source

Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures

Molecular Genetics & Genomic Medicine
Background Distal myopathies are genetic muscle disorders caused by mutations in various genes. A study found that mutations in adenylosuccinate synthetase‐like 1 (ADSSL1) are associated with distal myopathy in nine patients from six unrelated families ...
Hui Wang, Ting Zhang, Yanming Xu, Wenhui Fan   +3 more
doaj   +1 more source

Miopatia por corpos esferóides: relato de caso Spheroid body myopathy: case report

Arquivos de Neuro-Psiquiatria, 2005
A miopatia por corpos esferóides é doença rara, classificada no grupo das miopatias congênitas relacionadas aos distúrbios da desmina; apresenta, em geral, origem autossômica dominante e com início dos sintomas na fase adulta.
Rosana Hermínia Scola, Alcides Trentin Jr, Rodrigo Vaez, Vinicius de Faria Gignon, Thaís Gurgel Costa, Lineu Cesar Werneck   +5 more
doaj   +1 more source

Emerging Upper Extremity Muscle Ultrasound Patterns as a Diagnostic Aid in TTN‐Related Myopathies

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Biallelic pathogenic variants in TTN cause rare forms of early‐onset myopathy, manifesting with variable severity, distribution, and progression of muscle weakness, often associated with respiratory insufficiency and potentially cardiomyopathy. The large size of TTN and phenotypic heterogeneity in TTN‐related myopathy (TTN‐RM)
Abigail Potticary, Meghan McAnally, Sandra Donkervoort, Carsten G. Bönnemann   +3 more
wiley   +1 more source

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Acta Neuropathologica Communications, 2023
Congenital titinopathies are an emerging group of a potentially severe form of congenital myopathies caused by biallelic mutations in titin, encoding the largest existing human protein involved in the formation and stability of sarcomeres.
Nastasia Cardone, Melissa Moula, Rianne J. Baelde, Ariane Biquand, Marcello Villanova, Corinne Metay, Chiara Fiorillo, Serena Baratto, Luciano Merlini, Patrizia Sabatelli, Norma B. Romero, Frederic Relaix, François Jérôme Authier, Valentina Taglietti, Marco Savarese, Josine de Winter, Coen Ottenheijm, Isabelle Richard, Edoardo Malfatti   +18 more
doaj   +1 more source

Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles [PDF]

Neurology India, 2008
Distal myopathies are a group of heterogeneous disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. The recent years have witnessed increasing efforts to identify the causative genes for distal myopathies.
Malicdan, May Christine V., Nonaka, Ikuya   +1 more
openaire   +2 more sources

Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency. [PDF]

, 2014
Mitochondrial diseases due to a reduced capacity for oxidative phosphorylation were first identified more than 20 years ago, and their incidence is now recognized to be quite significant.
Scheffler, Immo E
core   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy. [PDF]

PLoS ONE, 2015
Mutations in Matrin 3 [MATR3], an RNA- and DNA-binding protein normally localized to the nucleus, have been linked to amyotrophic lateral sclerosis (ALS) and distal myopathies.
M Carolina Gallego-Iradi, Alexis M Clare, Hilda H Brown, Christopher Janus, Jada Lewis, David R Borchelt   +5 more
doaj   +1 more source