Results 111 to 120 of about 12,800 (285)

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  

Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study. [PDF]

, 2016
OBJECTIVE: To assess whether hereditary myopathy with early respiratory failure (HMERF) due to the c.951434T>C; (p.Cys31712Arg) TTN missense mutation also includes a cardiac phenotype.
Barresi, Rita, Beattie, Anna, Bourke, John P, Chinnery, Patrick F, Harris, Elizabeth, Marsh, Julie, Steele, Hannah E, Straub, Volker   +7 more
core   +1 more source

Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein‐C slow [PDF]

, 2013
Maegen A. Ackermann, Puja Patel, Jane Valenti, Yasuharu Takagi, Earl Homsher, James R. Sellers, Aikaterini Kontrogianni‐Konstantopoulos   +6 more
openalex   +1 more source

Distal myopathy with posterior leg and anterior hand involvement [PDF]

, 2020
INSERM
openalex   +1 more source

Dynamics of T-Cell Intracellular Antigen 1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy under Oxidative Stress [PDF]

, 2022
Andrea Fernández-Gómez, Beatriz Velasco, José M. Izquierdo   +2 more
openalex   +1 more source

Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3 [PDF]

, 2018
Myofibrillary myopathies (MFM) are hereditary myopathies histologically characterized by degeneration of myofibrils and aggregation of proteins in striated muscle.
Acker, T, Akintürk, H, Garvalov, BK, Gräf, S, Gulatz, L, Hahn, A, Jux, C, Mazhari, N, Rupp, S, Schänzer, A, Van Coster, Rudy, Zengeler, D   +11 more
core   +2 more sources

A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Cell trafficking disorders(CTDs) are rare, heterogeneous inherited conditions marked by impaired intracellular transport mechanisms such as vesicular trafficking, cytoskeletal dynamics, and organelle interactions. Although clinical awareness is increasing, CTDs are often underdiagnosed due to phenotypic overlap with mitochondrial, lysosomal ...
Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Kanay Yararbaş, Tamer Çelik, Esra Sarıgeçili, Habibe Koç Uçar   +6 more
wiley   +1 more source

DNA methylation dynamics in muscle development and disease [PDF]

, 2015
DNA methylation is an essential epigenetic modification for mammalian development and is crucial for the establishment and maintenance of cellular identity.
Carrió Gaspar, Elvira, Suelves Esteban, Mònica   +1 more
core   +1 more source

Efzimfotase Alfa Improves Respiratory Capacity in Muscle Tissue From a Mouse Model of HPP

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hypophosphatasia (HPP) is an inherited metabolic disease caused by deficient tissue‐nonspecific alkaline phosphatase (ALP) activity and characterized by skeletal and nonskeletal symptoms, including muscle weakness and fatigue. We hypothesized that mitochondrial respiration is impaired in muscle in HPP, independent of skeletal manifestations ...
Denise Devore, Juan Ruanova, Walter Voegtli, Derek Dunn, John Decker, Maurizio Mazzantini, Vincenzo De Tata, Maria Concetta Scavuzzo, Francesco Conti, Anna Petryk, Maria Luisa Brandi   +10 more
wiley   +1 more source

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3

BMC Genetics, 2001
Background Desmuslin is an α-dystrobrevin-interacting protein expressed primarily in heart and skeletal muscle. The desmuslin protein interacts with and is closely related to desmin, a protein encoded by a locus mutated in some forms of hereditary distal
O'Brien Kristine F, Puca Annibale A, Mizuno Yuji, Beggs Alan H, Kunkel Louis M   +4 more
doaj   +1 more source