Results 101 to 110 of about 12,116 (229)
Physiology of respiratory disturbances in muscular dystrophies [PDF]
, 2016 Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e.
Aliverti, Andrea +1 more
core +2 more sources
Advanced Science, Volume 13, Issue 25, 4 May 2026.The AAA+ ATPase Valosin‐containing protein (VCP/p97) regulates protein homeostasis by unfolding ubiquitinated substrates. Here, we describe UTE‐156, a novel irreversible covalent inhibitor that modifies Cys522 in the D2 ATPase motor domain. Although its pharmacochemical limitations preclude immediate therapeutic use, UTE‐156 serves as a valuable ...
Daniela Tamayo‐Jaramillo +8 more
wiley +1 more source
Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
, 2014 The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core +1 more source
Brain and Behavior, Volume 16, Issue 5, May 2026.ABSTRACT Objective Immune‐related polyradiculoneuropathy (irPRN) is a rare but potentially severe neurological adverse event secondary to immune checkpoint inhibitors (ICIs), closely resembling Guillain–Barré syndrome. This study aims to characterize the clinical presentation, neurophysiological findings, therapeutic strategies, and clinical outcomes ...
A. Llauradó +9 more
wiley +1 more source
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
Facioscapulohumeral muscular dystrophy: more complex than it appears [PDF]
, 2014 Facioscapulohumeral muscular dystrophy (FSHD) has been classified as an autosomal dominant myopathy, linked to rearrangements in an array of 3.3 kb tandemly repeated DNA elements (D4Z4) located at the 4q subtelomere (4q35).
RICCI, GIULIA, TUPLER, Rossella, Zatz, M
core +1 more source
Brain and Behavior, Volume 16, Issue 5, May 2026.Chronic inflammatory demyelinating polyneuropathy is an autoimmune disorder causing demyelination, leading to distal weakness, sensory loss, and autonomic dysfunction. Immune activation triggers macrophage‐mediated myelin damage and conduction failure.
Ayesha Khan +11 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 5, May 2026.ABSTRACT This case highlights that acute motor axonal neuropathy can present with asymmetric, relapsing weakness in children. In malaria‐endemic and resource‐limited settings, clinicians should consider atypical Guillain–Barré variants early, as timely recognition and treatment can significantly improve outcomes despite diagnostic and systemic ...
Muath Ibrahim Mohammed Abusaada +7 more
wiley +1 more source
BMC Medical Genetics, 2017 Background Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies.
Zsolt Bánfai +6 more
doaj +1 more source