المؤلفون: Puca, F., Fodale, V., Randazzo, P., Fabbrini, D., Missineo, A., Bisbocci, M., Esposito, S., Nibbio, M., Amaudrut, J., Colaceci, F., Sasso, R., Scalabrì, F., Loponte, S., Alli, C., Pucci, V., Montalbetti, C., Di Fabio, R., Petrocchi, A., Carugo, A., Toniatti, C.

المصدر: In European Journal of Cancer October 2022 174 Supplement 1:S26-S26

المؤلفون: Di Fabio, R. P., Graf, B., Badke, M. B., Breunig, A., Jensen, K.

المصدر: Experimental Brain Research. January 1992 90(1):189-200

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المؤلفون: Di Fabio, R. P., Badke, M. B., McEvoy, A., Breunig, A.

المصدر: Experimental Brain Research. May 1990 80(3):591-599

المؤلفون: Donati, D., Di Fabio, R.

المصدر: In Pharmacochemistry Library 2000 31:239-245

المؤلفون: Di Fabio, R. P.

المصدر: Stimulus. December 1999 18(4):251-252

المؤلفون: Denora, Ps, Schlesinger, D, Casali, Carlo, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, Mt, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, DI ROCCO, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, DE LEVA MF, BOESPFLUG TANGUY, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, Flavia, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, DI FABIO, R, Piccolo, F, Denis, E, Cioni, G, Massa, R, Della, Giustina, E, Calabrese, O, Melone, Ma, DE MICHELE, G, Federico, A, Bertini, E, Durr, A, Brockmann, K, VAN DER KNAAP MS, Zatz, M, Filla, A, Brice, A, Stevanin, G, Santorelli, Fm

المساهمون: Denora, P., Schlesinger, D., Casali, C., Kok, F., Tessa, A., Boukhris, A., Azzedine, H., Dotti, M., Bruno, C., Trucchetto, J., Biancheri, R., Fedirko, E., DI ROCCO, M., Bueno, C., Malandrini, A., Battini, R., Sickl, E., DE LEVA, F., BOESPFLUG TANGUY, O., Silvestri, G., Simonati, A., Said, E., Ferbert, A., Criscuolo, C., Heinimann, K., Modoni, A., Weber, P., Palmeri, S., Plasilova, M., Pauri, F., Cassandrini, D., Battisti, C., Pini, A., Tosetti, M., Hauser, E., Masciullo, M., DI FABIO, R., Piccolo, F., Denis, E., Cioni, G., Massa, R., DELLA GIUSTINA, E., Calabrese, O., Melone, Mariarosa Anna Beatrice, DE MICHELE, G., Federico, A., Bertini, E., Durr, A., Brockmann, K., VAN DER KNAPP, M., Zatz, M., Filla, A., Brice, A., Stevanin, G., Santorelli, F., Pediatric surgery, NCA - Childhood White Matter Diseases, Denora, P, Schlesinger, D, Casali, C, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, Mt, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, Di Rocco, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, de Leva, Mf, Boespflug Tanguy, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, F, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, Fabio, Rd, Piccolo, F, Denis, E, Cioni, G, Massa, R, Giustina, Ed, Calabrese, O, Melone, Ma, DE MICHELE, Giuseppe, Federico, A, Bertini, E, Durr, A, Brockmann, K, van der Knaap, M, Zatz, M, Filla, Alessandro, Brice, A, Stevanin, G, Santorelli, F. M., Di Fabio, R, Della Giustina, E, Other departments

المصدر: Human Mutation, 30(3), E500-E519. Wiley-Liss Inc.
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Denora, P S, Schlesinger, D, Casali, C, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, M T, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, Di Rocco, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, de Leva, M F, Boespflug-Tanguy, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, F, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, Di Fabio, R, Piccolo, F, Denis, E, Cioni, G, Massa, R, la Giustina, E, Calabrese, O, Melone, M A B, De Michele, G, Federico, A, Bertini, E, Durr, A, Brockmann, K, van der Knaap, M S, Zatz, M, Filla, A, Brice, A, Stevanin, G & Santorelli, F M 2009, ' Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion ', Human Mutation, vol. 30, no. 3, pp. E500-E519 . https://doi.org/10.1002/humu.20945
Human mutation, 30(3), E500-E519. Wiley-Liss Inc.

مصطلحات موضوعية: Male, ARHSP, DNA Mutational Analysis, medicine.disease_cause, Mutation screening, SPG11, TCC, 0302 clinical medicine, Gene Frequency, Genotype, Gene duplication, Missense mutation, Genetics (clinical), Genetics, 0303 health sciences, Mutation, education.field_of_study, medicine.diagnostic_test, mutation screening, Middle Aged, Pedigree, 3. Good health, Morocco, Female, Settore MED/26 - Neurologia, Brazil, Adult, Adolescent, ARHSP, TCC, SPG11, mutation screening, Population, Genes, Recessive, Biology, Young Adult, 03 medical and health sciences, medicine, Humans, Genetic Testing, education, Allele frequency, 030304 developmental biology, Genetic testing, Family Health, Base Sequence, Portugal, Spastic Paraplegia, Hereditary, MUTAÇÃO GENÉTICA, Haplotype, Proteins, Haplotypes, Algeria, Agenesis of Corpus Callosum, Gene Deletion, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a6ba3c03e72db209b2dcfa43f19a30e
http://hdl.handle.net/2108/39066

المؤلفون: 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.

المساهمون: Radiotherapy, Neurology

المصدر: 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 <http://dx.doi.org/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

مصطلحات موضوعية: Male, DISORDER, Pathology, Neutrophils, medicine.medical_treatment, Neural Conduction, Hematopoietic stem cell transplantation, Gastroenterology, Liver disease, Fanconi anemia, risk factors, Non-U.S. Gov't, Child, 610 Medicine & health, Neurologic Examination, OUTCOMES, Ophthalmoplegia, Research Support, Non-U.S. Gov't, Hematopoietic Stem Cell Transplantation, Brain, THYMIDINE PHOSPHORYLASE-DEFICIENCY, Magnetic Resonance Imaging, Multicenter Study, Haematopoiesis, Treatment Outcome, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), MNGIE, outcome, Female, Stem cell, Adult, medicine.medical_specialty, Adolescent, Thymidine phosphorylase activity, Research Support, thymidine phosphorylase, PATIENT, N.I.H, Young Adult, SDG 3 - Good Health and Well-being, Muscular Dystrophy, Oculopharyngeal, Research Support, N.I.H., Extramural, Mitochondrial Encephalomyopathies, Internal medicine, medicine, Journal Article, Humans, Transplantation, Homologous, Thymidine phosphorylase, Retrospective Studies, business.industry, MUTATIONS, MUTAÇÃO GENÉTICA, Body Weight, Intestinal Pseudo-Obstruction, Extramural, allogeneic haematopoietic stem cell transplantation, Original Articles, medicine.disease, Survival Analysis, Transplantation, DELETIONS, FANCONI-ANEMIA, Neurology (clinical), business, Follow-Up Studies

وصف الملف: image/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::622b286198db315b48ed87569b5cafb2
https://dspace.library.uu.nl/handle/1874/332591

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