Results 21 to 30 of about 1,742,640 (300)

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders [PDF]

, 2022
: Background and purpose Patients with neuromuscular conditions are at increased risk of suffering perioperative complications related to anaesthesia. There is currently little specific anaesthetic guidance concerning these patients. Here, we present the
Díaz- Cambronero, Óscar, Silva, Helga C.A., Bastian, Börge, Litman, R., Nicol C. Voermans, Gillies, Robyn, Muenster, T., Snoeck, Marc M J, Riazi, Sheila, Snoeck, M.M.J., Sheila Riazi, Jungbluth, Heinz; id_orcid, Tasca, G., Jens Reimann, Robyn Gillies, Voermans, Nicol C, Bersselaar, Luuk R. van den, Jungbluth, H., Klein, A., Johannsen, Stephan, Tino Muenster, Veyckemans, F., Voermans, N.C., Lokken, Nicoline, Løkken, N., Reimann, Jens, Luc Heytens, Hopkins, Philip M., Díaz-Cambronero, Ó., Klein, Andrea, Henrik Rueffert, Anna Hellblom, Silva, Helga Cristina Almeida da [UNIFESP], Ron Litman, Giorgio Tasca, Heinz Jungbluth, Gillies, R., Silva, Helga C. A., Løkken, Nicoline, Hopkins, P.M., Diaz-Cambronero, Oscar, Muenster, Tino, Riazi, S., van den Bersselaar, Luuk R., Silva, H.C.A., Andrea Klein, Litman, Ron, Tasca, Giorgio, Bastian, B., Helga C. A. Silva, Heytens, Luc, Nicoline Løkken, Vilchez, J.J., Snoeck, Marc M. J., Hellblom, A., Johannsen, S., Voermans, Nicol C., Juan Jesus Vilchez, Börge Bastian, Díaz‐Cambronero, Óscar, Vilchez, Juan Jesus, Snoeck, Marc M.J., Bersselaar, L.R. van den, Hellblom, Anna, van den Bersselaar, Luuk R, Hopkins, Philip M, Bastian, Boerge, Marc M. J. Snoeck, Heytens, L., Rueffert, H., Philip M. Hopkins, Veyckemans, Francis, Francis Veyckemans, Silva, Helga C A, Rueffert, Henrik, Luuk R. van den Bersselaar, Óscar Díaz‐Cambronero, Jungbluth, Heinz, Stephan Johannsen   +78 more
core   +2 more sources

Effects of 3,4-diaminopyridine on myasthenia gravis: Preliminary results of an open-label study

Frontiers in Pharmacology, 2022
Background: 3,4-diaminopyridine (3,4-DAP) can lead to clinical and electrophysiological improvement in myasthenic syndrome; it may thus represent a valuable therapeutic option for patients intolerant to pyridostigmine.Objective: to assess 3,4 ...
Marco Ceccanti, Laura Libonati, Gabriele Ruffolo, Gabriele Ruffolo, Pierangelo Cifelli, Federica Moret, Vittorio Frasca, Eleonora Palma, Maurizio Inghilleri, Chiara Cambieri   +9 more
doaj   +1 more source

Physical Examination, Electrophysiological Procedures and Laboratory Tests Used to Differentially Diagnose Neuromuscular Disorders

, 2023
In the differential diagnosis of neuromuscular disorders, it is very important to know the family history of the patient, to perform a detailed physical examination, and to examine electrophysiological and biochemical analyses together.
Tiftikcioglu, Bedile Irem, Çolak, Ayfer
core   +1 more source

Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit

Communications Biology, 2022
Mitochondrial dGTP is mostly bound to an accessory subunit of complex I of the mitochondrial respiratory chain, which may reveal a mechanism linking mitochondrial dNTP availability and oxidative metabolism.
David Molina-Granada, Emiliano González-Vioque, Marris G. Dibley, Raquel Cabrera-Pérez, Antoni Vallbona-Garcia, Javier Torres-Torronteras, Leonid A. Sazanov, Michael T. Ryan, Yolanda Cámara, Ramon Martí   +9 more
doaj   +1 more source

Neuromuscular disorders [PDF]

Jornal de Pediatria, 2002
OBJECTIVE: To discuss the most important aspects for the performance of a differential diagnosis among the main neuromuscular disorders in children, which include diseases affecting the motor unity, i.e. spinal motor neurons, peripheral nerves, neuromuscular junction and muscular fibers.
openaire   +2 more sources

Hypoglycemia in patients with congenital muscle disease

BMC Pediatrics, 2020
Background Only a few small studies have previously reported episodes of hypoglycemia in children with neuromuscular diseases; however, there has been no broader investigation into the occurrence of hypoglycemia in children with congenital muscle disease
Leslie H. Hayes, Pomi Yun, Payam Mohassel, Gina Norato, Sandra Donkervoort, Meganne E. Leach, Rachel Alvarez, Anne Rutkowski, Natalie D. Shaw, A. Reghan Foley, Carsten G. Bönnemann   +10 more
doaj   +1 more source

Proteomic analysis of cortical neuronal cultures treated with poly-arginine peptide-18 (R18) and exposed to glutamic acid excitotoxicity

Molecular Brain, 2019
Poly-arginine peptide-18 (R18) has recently emerged as a highly effective neuroprotective agent in experimental stroke models, and is particularly efficacious in protecting cortical neurons against glutamic acid excitotoxicity.
Gabriella MacDougall, Ryan S. Anderton, Frank L. Mastaglia, Neville W. Knuckey, Bruno P. Meloni   +4 more
doaj   +1 more source

Modes of Neuronal Calcium Entry and Homeostasis following Cerebral Ischemia

Stroke Research and Treatment, 2010
One of the major instigators leading to neuronal cell death and brain damage following cerebral ischemia is calcium dysregulation. The neuron's inability to maintain calcium homeostasis is believed to be a result of increased calcium influx and impaired ...
J. L. Cross, B. P. Meloni, A. J. Bakker, S. Lee, N. W. Knuckey   +4 more
doaj   +1 more source

siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy

Molecular Therapy: Nucleic Acids, 2014
Congenital muscular dystrophy type Ullrich (UCMD) is a severe disorder of early childhood onset for which currently there is no effective treatment. UCMD commonly is caused by dominant-negative mutations in the genes coding for collagen type VI, a major ...
Véronique Bolduc, Yaqun Zou, Dayoung Ko, Carsten G Bönnemann   +3 more
doaj   +1 more source

Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene

Molecular Therapy: Nucleic Acids, 2012
Protein-truncating mutations in the dystrophin gene lead to the progressive muscle wasting disorder Duchenne muscular dystrophy, whereas in-frame deletions typically manifest as the milder allelic condition, Becker muscular dystrophy.
Sue Fletcher, Carl F. Adkin, Penny Meloni, Brenda Wong, Francesco Muntoni, Ryszard Kole, Clayton Fragall, Kane Greer, Russell Johnsen, Steve D. Wilton   +9 more
doaj   +1 more source