Results 61 to 70 of about 314,455 (204)

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +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

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

UK DRAFFT : a randomised controlled trial of percutaneous fixation with kirschner wires versus volar locking-plate fixation in the treatment of adult patients with a dorsally displaced fracture of the distal radius [PDF]

, 2011
Background: Fractures of the distal radius are extremely common injuries in adults. However, the optimal management remains controversial. In general, fractures of the distal radius are treated non-operatively if the bone fragments can be held in ...
Brown, Jaclyn, Costa, Matthew L., Lamb, S. E. (Sallie E.), Parsons, Nicholas R., Parsons, NR, Richard P Edlin, Achten, Juul, Edlin, Richard P., Achten, J, Rangan, A, Matthew L Costa, Costa Matthew L, Juul Achten, Jaclyn Brown, Rangan Amar, Edlin Richard P, Lamb, Sarah, Amar Rangan, Costa, ML, Edlin, RP, Sarah E Lamb, Achten Juul, Nick R Parsons, Parsons Nick R, Rangan, Amar, Lamb Sarah E, Brown, J, Brown Jaclyn, Lamb, SE   +28 more
core   +2 more sources

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

Effects of flow‐controlled expiration on oxygenation and early recovery in horses undergoing general anaesthesia

Equine Veterinary Journal, EarlyView.
Abstract Background FLow‐controlled EXpiration (FLEX) has been shown to significantly enhance oxygenation in horses under clinical and experimental conditions. Objectives To compare pulmonary gas exchange during early recovery following general anaesthesia in horses ventilated with FLEX compared with conventional intermittent positive pressure ...
Allison Mika, Jerrianne Brandly, Alycia Frampton, Hope Douglas, Miranda Starr, Henry Benchimol, Klaus Hopster   +6 more
wiley   +1 more source

Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice. [PDF]

PLoS ONE, 2012
Mutations in the key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase, result in distal myopathy with rimmed vacuoles (DMRV)/hereditary inclusion body myopathy (HIBM) in humans.
Mitutoshi Ito, Kazushi Sugihara, Tomoya Asaka, Tadashi Toyama, Toru Yoshihara, Kengo Furuichi, Takashi Wada, Masahide Asano   +7 more
doaj   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]

, 2008
Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
North Kathryn N., Mitrani-Rosenbaum, S, Shira Amsili, Stephan Hinderlich, Krause, S, Hinderlich Stephan, Hagit Zer, MacArthur, DG, Mitrani-Rosenbaum Stella, Mitrani-Rosenbaum, Stella, Zer, Hagit, Amsili Shira, Becker-Cohen, M, Hinderlich, S, Amsili, S, Becker-Cohen Michal, Krause, Sabine, Krause Sabine, Kathryn N North, North, Kathryn N., Zer Hagit, Sabine Krause, Daniel G MacArthur, Hinderlich, Stephan, Michal Becker-Cohen, MacArthur Daniel G., Zer, H, MacArthur, Daniel G., Stella Mitrani-Rosenbaum, Becker-Cohen, Michal, Amsili, Shira, North, KN   +31 more
core   +2 more sources

A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family

BMC Neurology, 2018
Background Filamin C-related myofibrillar myopathies (MFM) are progressive skeletal myopathies with an autosomal dominant inheritance pattern. The conditions are caused by mutations of the filamin C gene (FLNC) located in the chromosome 7q32-q35 region ...
Jing Miao, Fei-fei Su, Xue-mei Liu, Xiao-jing Wei, Yun Yuan, Xue-fan Yu   +5 more
doaj   +1 more source