Anti-cN1A Antibodies Are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis

Autor: Giovanni Antonini, Massimiliano Filosto, Carmelo Rodolico, Matteo Lucchini, Lorenzo Maggi, Elena Pegoraro, Gabriele Siciliano, Giorgio Tasca, Chiara De Fino, Valeria De Arcangelis, Matteo Garibaldi, Massimiliano Mirabella, Maria Lucia Valentino

Publikováno v: Cells
Volume 10
Issue 5
Cells, Vol 10, Iss 1146, p 1146 (2021)

In recent years, an autoantibody directed against the 5′-citosolic nucleotidase1A (cN1A) was identified in the sera of sporadic inclusion body myositis (s-IBM) patients with widely variable sensitivity (33%–76%) and specificity (87%–100%). We a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2464d0a09408f991135ac60380989be0
http://hdl.handle.net/11577/3395928

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

Autor: Neuray, C., Maroofian, R., Scala, M., Sultan, T., Pai, G. S., Mojarrad, M., Khashab, H. E., Deholl, L., Yue, W., Alsaif, H. S., Zanetti, M. N., Bello, O., Person, R., Eslahi, A., Khazaei, Z., Feizabadi, M. H., Efthymiou, S., El-Bassyouni, H. T., Soliman, D. R., Tekes, S., Ozer, L., Baltaci, V., Khan, S., Beetz, C., Amr, K. S., Salpietro, V., Jamshidi, Y., Alkuraya, F. S., Houlden, H., Groppa, S., Karashova, B. M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Synaps, Group, Di Rosa, G., Aguennouz, M., Goraya, J. S., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A. M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B. M., Boles, R., Papacostas, S., Vikelis, M., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y. A., Striano, P., Al-Khawaja, I., Al-Mutairi, F., Sherifa, H.

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Brain
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (8), pp.2388-2397. ⟨10.1093/brain/awaa178⟩
Publons

Mice lacking GAD1 show neonatal mortality, but the human phenotype associated with GAD1 disruption is poorly characterized. Neuray et al. describe six patients with biallelic GAD1 mutations, presenting with early-infantile onset epilepsy, neurodevelo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55108cc53157474a74f1616404044b9d
http://hdl.handle.net/11567/1022383

The ICM research agenda on intensive care unit-acquired weakness

Autor: Sangeeta Mehta, Giuseppe Citerio, Jesse B. Hall, E. Wesley Ely, Theodore J. Iwashyna, Claudia C. dos Santos, Derek C. Angus, Nicholas Hart, Johannes Van den Hoeven, Nicola Latronico, Hannah Wunsch, Greet Hermans, Margaret S. Herridge, Elie Azoulay, Yaseen M. Arabi, Kathleen Puntillo, Greet Van den Berghe, Ramona O. Hopkins, Dale M. Needham, Gordon D. Rubenfeld, Deborah J. Cook, Jean Louis Vincent

Publikováno v: Intensive Care Medicine. 43:1270-1281

We present areas of uncertainty concerning intensive care unit-acquired weakness (ICUAW) and identify areas for future research. Age, pre-ICU functional and cognitive state, concurrent illness, frailty, and health trajectories impact outcomes and sho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fa28c9c24ec2eaf71cb1d8ad2c81ac9
https://doi.org/10.1007/s00134-017-4757-5

The idebenone metabolite QS10 restores electron transfer in complex I and coenzyme Q defects

Autor: Francesco Argenton, Valerio Carelli, Marco Schiavone, Maurizio Prato, Valeria Petronilli, Manuel J. Acosta Lopez, Chiara Galber, Paolo Bernardi, Marco Carini, Valentina Giorgio, Tatiana Da Ros, Leonardo Salviati

Idebenone is a hydrophilic short-chain coenzyme (Co) Q analogue, which has been used as a potential bypass of defective complex I in both Leber Hereditary Optic Neuropathy and OPA1-dependent Dominant Optic Atrophy. Based on its potential antioxidant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0afcf2aa5f11130dfb566e973aaa94f4
http://hdl.handle.net/11368/2934405

Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease

Autor: Harrison N. Jones, Anita K. Simonds, Emilia Barrot Cortés, Katalin Várdi, Matthias Boentert, Uwe Mellies, Hélène Prigent, Marco Confalonieri, Stephan Wenninger

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 17, Iss 10, p 1735 (2016)

Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce49b793816b0388c805c88422317a84
https://www.ncbi.nlm.nih.gov/pubmed/27763517