Clinical findings and electrodiagnostic testing in 108 consecutive cases of lumbosacral radiculopathy due to herniated disc

Autor: Mondelli, M., Aretini, A., Arrigucci, U., Ginanneschi, F., Greco, G., Sicurelli, F.

Publikováno v: In Neurophysiologie Clinique / Clinical Neurophysiology October 2013 43(4):205-215

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Autor: Halter, J. P, Michael, W, Schüpbach, M, Mandel, H, Casali, C, Orchard, K, Collin, M, Valcarcel, D, Rovelli, A, Filosto, M, Dotti, M. T, Marotta, G, Pintos, G, Barba, P, Accarino, A, Ferra, C, Illa, I, Beguin, Y, Bakker, J. A, Boelens, J. J, De Coo, I. F. M, Fay, K, Sue, C. M, Nachbaur, D, Zoller, H, Sobreira, C, Pinto Simoes, B, Hammans, S. R, Savage, D, Martí, R, Chinnery, P. F, Elhasid, R, Gratwohl, A, Hirano, M, Barros Navarro, G, Benoist, J. F, Bierau, J, Bucalossi, A, Carluccio, M. A, Coll-Canti, J, Cotelli, M. S, Diesch, T, Di Fabio, R, Donati, M. A, Garvin, J. H, Hill, K, Kappeler, L, Ku Hne, T, Lara, M. C, Lenoci, M, Lucchini, G, Marques, W. Jr, Mattle, H. P, Meyer, A, Parini, R, Passweg, J. R, Pieroni, F, Rodriguez-Palmero, A, Santus, F, Scarpelli, M, Schlesser, P, Sicurelli, F, Stern, M, Stracieri, A. B, Tonin, P, Torres-Torronteras, J, Voltarelli, J. C, Zaidman, I.

Publikováno v: Brain, 138, 2847. Oxford University Press
Halter, Joerg P; Schüpbach, Michael; Mandel, Hanna; Casali, Carlo; Orchard, Kim; Collin, Matthew; Valcarcel, David; Rovelli, Attilio; Filosto, Massimiliano; Dotti, Maria T; Marotta, Giuseppe; Pintos, Guillem; Barba, Pere; Accarino, Anna; Ferra, Christelle; Illa, Isabel; Beguin, Yves; Bakker, Jaap A; Boelens, Jaap J; de Coo, Irenaeus F M; ... (2015). Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Brain, 138(10), pp. 2847-2858. Oxford University Press 10.1093/brain/awv226
BRAIN
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Brain, 138, 2847-2858. Oxford University Press
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Brain, 138, 2847-2858

Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. We co

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https://dspace.library.uu.nl/handle/1874/332591

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Autor: Pretegiani, Elena, Palmeri, Silvia, Malandrini, Alessandro, Rubegni, Anna, Rufa, Alessandra, Sicurelli, F., Federico, Antonio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1820::183a6b0ebca25228b780837e5b12f166
http://hdl.handle.net/11365/18592

Screening for CADASIL mutation in Leukoencephalopathies

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1820::bbe95492831a072b309abf58a86ffa56
http://hdl.handle.net/11365/18549