Results 71 to 80 of about 7,069 (164)

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

Silent polymorphisms in the RYR1 gene do not\ud modify the phenotype of the p.4898 I>T\ud pathogenic mutation in central core disease:\ud a case report [PDF]

Background: Central core disease is a congenital myopathy, characterized by presence of central core-like areas in\ud muscle fibers. Patients have mild or moderate weakness, hypotonia and motor developmental delay.
Cuperman, Thais, Fernandes, Stephaine A., Lourenço, Naila C. V., Oliveira, Acary S. B., Pavanello, Rita C. M., Silva, Helga C. A., Vainzof, Mariz, Yamamoto, Guilherme L., Yamamoto, Lydia U, Zatz, Mayana   +9 more
core  

Diagnosis and aetiology of congenital muscular dystrophy: we are halfway there [PDF]

, 2016
OBJECTIVES: To evaluate the diagnostic outcomes in a large cohort of congenital muscular dystrophy (CMD) patients using traditional and Next Generation Sequencing (NGS) technologies.
Best, H, Clarke, NF, Cooper, S, Davis, M, Ghaoui, R, Hoffman, E, Kaur, S, Laing, NG, Lamande, SR, Lek, M, MacArthur, DG, Muntoni, F, North, K, O'Grady, GL, Oates, EC, Punetha, J, Sandaradura, SA, Waddell, L   +17 more
core  

XLIII Conferências de Genética Doutor Jacinto Magalhães: resumo das comunicações [PDF]

, 2014
Suplemento da revista Nascer & Crescer com os resumos dos Posters e Comunicações orais apresentadas durante as XLIII Conferências de Genética Doutor Jacinto Magalhães que decorreu no dia 28 de março de 2014, na cidade do Porto ...
Alvares, S.
core  

Characterization of recessive RYR1 mutations in core myopathies [PDF]

, 2017
We have characterized at the molecular level, three families with core myopathies carrying apparent recessive mutations in their RYR1 gene and studied the pharmacological properties of myotubes carrying endogenous mutations as well as the properties of ...
Bertini, Enrico, Jungbluth, Heinz, Meissner, Gerhard, Muntoni, Francesco, Sewry, Caroline, Treves, Susan, Wang, Ying, Xu, Le, Yamaguchi, Naohiro, Zhou, Haiyan, Zorzato, Francesco   +10 more
core  

Congenital Structural Myopathy [PDF]

, 2020
openaire   +1 more source

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden. [PDF]

Ann Neurol
Michael E, Hedberg-Oldfors C, Tulinius M, Nordström S, Oldfors A, Darin N.   +5 more
europepmc   +1 more source

<i>ACTA1</i>-related congenital myopathy in a neonate: a case report and literature review. [PDF]

Front Pediatr
Zhao L, Deng F, Cai B.
europepmc   +1 more source

Statins, skeletal muscle, and ryanodine receptor activation: resolving a 30-year mystery behind statin myotoxicity. [PDF]

Cardiovasc Diabetol Endocrinol Rep
Santulli G.
europepmc   +1 more source

Molecular Bases of Myopathies and Their Impact on Clinical Practice: Advances and Future Perspectives. [PDF]

Int J Mol Sci
Campuzano-Donoso M, Reytor-González C, Toral-Noristz M, González Y, Simancas-Racines D.   +4 more
europepmc   +1 more source