Results 41 to 50 of about 2,741 (208)

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking [PDF]

, 2019
Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a member of the myotubularin family, the MTMR2 protein is ...
AziziMalamiri, R, Bayram, N, Bibi, F, Cirak, S, Cooper, E, Efthymiou, S, Galehdari, H, Houlden, H, Jamshidi, Y, Kaçar Bayram, A, Mazaheri, N, Naghibzadeh, K, Nedic, I, Ozdemir, O, Per, H, Pergrande, M, Salpietro, V, Sami Güven, A, Shalbafan, B, Shariati, G, Sprute, R, Stumpfe, K, Sultan, T, Tajik, M, Wang, H, Yaşar, M, Zeighami, J   +26 more
core   +3 more sources

X-Linked Myotubular and Centronuclear Myopathies [PDF]

Journal of Neuropathology & Experimental Neurology, 2005
Recent work has significantly enhanced our understanding of the centronuclear myopathies and, in particular, myotubular myopathy. These myopathies share similar morphologic appearances with other diseases, namely the presence of hypotrophic myofibers with prominent internalized or centrally placed nuclei.
Christopher R, Pierson, Kinga, Tomczak, Pankaj, Agrawal, Behzad, Moghadaszadeh, Alan H, Beggs   +4 more
openaire   +2 more sources

Floppy Infant Syndrome: new approach to the study of neonatal hypotonia through the analysis of a rare case of X-Linked Myotubular Myopathy

Journal of Pediatric and Neonatal Individualized Medicine, 2014
The Floppy Infant Syndrome includes a variety of signs and symptoms: decrease in muscle tone (hypotonia), in muscle power (weakness) and ligamentous laxity and increased range of joint mobility.
Massimiliano De Vivo, Silvana Rojo, Roberto Rosso, Giovanni Chello, Paolo Giliberti   +4 more
doaj   +1 more source

First person – Suzie Buono and Arnaud Monseur

Disease Models & Mechanisms, 2022
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers.
doaj   +1 more source

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]

, 2015
The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the, De Bleecker, Jan, Doggen, Kris, Roy, Anna J, Van Casteren, Viviane, Van Coster, Rudy, Van Damme, Philip, Van den Bergh, Peter   +7 more
core   +2 more sources

A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]

, 2012
Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Arnold, Anne-Sophie, Christe, Martine, Handschin, Christoph   +2 more
core   +1 more source

X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child

Journal of the Formosan Medical Association, 2008
We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of the disease. He presented at birth with generalized hypotonia, difficulty in swallowing, and respiratory distress with frequent episodes of atelectasis ...
Chia-Ying Chang, Shuan-Pei Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Che-Sheng Ho, Yi-Ning Su   +5 more
doaj   +1 more source

Coupling Of Ribosome And tRNA Dynamics During Translation [PDF]

, 2009
Interstellar matter and star ...
Bourke, T.L., Di Francesco, J., Dunham, M.M., Keto, E., Launhardt, R., Myers, P.C., Sadavoy, S.I., Stephens, I.W., Stutz, A.M., Tobin, J.J., Webb, K.   +10 more
core   +2 more sources

Identification of mitogen-activated protein kinase docking sites in enzymes that metabolize phosphatidylinositols and inositol phosphates [PDF]

, 2006
Background Reversible interactions between the components of cellular signaling pathways allow for the formation and dissociation of multimolecular complexes with spatial and temporal resolution and, thus, are an important means of integrating multiple ...
Buckley Colin T, Sosa Marcos, Caldwell Kevin K   +2 more
core   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, Volume 3, Issue 6, November 2025.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source