المؤلفون: Filareto I., Cinelli G., Scalabrini I., Caramaschi E., Bergonzini P., Spezia E., Todeschini A., Iughetti L.

المساهمون: Filareto, I., Cinelli, G., Scalabrini, I., Caramaschi, E., Bergonzini, P., Spezia, E., Todeschini, A., Iughetti, L.

مصطلحات موضوعية: Leukoencephalopathy, Status epilepticu, Vanishing white matter disease, Child, Preschool, Eukaryotic Initiation Factor-2B, Human, Infant, Magnetic Resonance Imaging, Male, Mutation, Seizure, Epilepsy, Leukoencephalopathie, White Matter

Relation: info:eu-repo/semantics/altIdentifier/pmid/35897042; info:eu-repo/semantics/altIdentifier/wos/WOS:000831217000004; volume:48; issue:1; firstpage:N/A; lastpage:N/A; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11380/1288277; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85134969527

الاتاحة: http://hdl.handle.net/11380/1288277
https://doi.org/10.1186/s13052-022-01325-3

المؤلفون: Miguel A. Vences, Adriana F. Saravia-Ayala, Elliot Barreto-Acevedo

المصدر: Medwave, Vol 21, Iss 02, Pp e8138-e8138 (2021)

مصطلحات موضوعية: dementia, leukoencephalopathie, nervous system neoplasms, lymphoma, pet-ct scan, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.medwave.cl/link.cgi/Medwave/Estudios/Casos/8138.act; https://doaj.org/toc/0717-6384

URL الوصول: https://doaj.org/article/0c220fb0e44a4430915b135de79c0a21

المؤلفون: Van Waalwijk Van Doorn L. J. C., Ghafoorian M., Van Leijsen E. M. C., Claassen J. A. H. R., Arighi A., Bozzali M., Cannas J., Cavedo E., Eusebi P., Farotti L., Fenoglio C., Fortea J., Frisoni G. B., Galimberti D., Greco V., Herukka S. -K., Liu Y., Lleo A., De Mendonca A., Nobili F. M., Parnetti L., Picco A., Pikkarainen M., Salvadori N., Scarpini E., Soininen H., Tarducci R., Urbani A., Vilaplana E., Meulenbroek O., Platel B., Verbeek M. M., Kuiperij H. B., Martins R.

المساهمون: L.J.C. Van Waalwijk Van Doorn, M. Ghafoorian, E.M.C. Van Leijsen, J.A.H.R. Claassen, A. Arighi, M. Bozzali, J. Canna, E. Cavedo, P. Eusebi, L. Farotti, C. Fenoglio, J. Fortea, G.B. Frisoni, D. Galimberti, V. Greco, S.-. Herukka, Y. Liu, A. Lleo, A. De Mendonca, F.M. Nobili, L. Parnetti, A. Picco, M. Pikkarainen, N. Salvadori, E. Scarpini, H. Soininen, R. Tarducci, A. Urbani, E. Vilaplana, O. Meulenbroek, B. Platel, M.M. Verbeek, H.B. Kuiperij, R. Martins

مصطلحات موضوعية: Alzheimer's disease, amyloid, biomarker, cerebrospinal fluid, magnetic resonance imaging, tau protein, white matter hyperintensitie, white matter lesion, Aged, Alzheimer Disease, Amyloid beta-Peptide, Cognitive Dysfunction, Confounding Factors, Epidemiologic, Female, Human, Image Processing, Computer-Assisted, Leukoencephalopathie, Male, Middle Aged, Peptide Fragment, Phosphorylation, tau Proteins, Settore BIO/13 - Biologia Applicata, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/33252070; info:eu-repo/semantics/altIdentifier/wos/WOS:000606806900016; volume:79; issue:1; firstpage:163; lastpage:175; numberofpages:13; journal:JOURNAL OF ALZHEIMER'S DISEASE; http://hdl.handle.net/2434/902051; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099060568

الاتاحة: http://hdl.handle.net/2434/902051
https://doi.org/10.3233/JAD-200496

المؤلفون: Mancuso, Michelangelo

المساهمون: Mancuso, Michelangelo

مصطلحات موضوعية: Cardiomyopathie, Hearing lo, Leukoencephalopathie, Mitochondrial disease, Multisystem involvement, Parkinsonism, mtDNA

Relation: info:eu-repo/semantics/altIdentifier/isbn/9780128217511; volume:194; firstpage:117; lastpage:124; numberofpages:8; serie:HANDBOOK OF CLINICAL NEUROLOGY; https://hdl.handle.net/11568/1168685; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148373813

الاتاحة: https://hdl.handle.net/11568/1168685
https://doi.org/10.1016/B978-0-12-821751-1.00003-8

المؤلفون: Mirchi, Amytice, Pelletier, Félixe, Tran, Luan T, Keller, Stephanie, Braverman, Nancy, Tonduti, Davide, Vanderver, Adeline, Pizzino, Amy, Dilenge, Marie-Emmanuelle, Poulin, Chantal, Shevell, Michael, Majnemer, Annette, Sébire, Guillaume, Srour, Myriam, Osterman, Bradley, Boucher, Renée-Myriam, Vanasse, Michel, Rossignol, Elsa, Mitchell, John, Venkateswaran, Sunita, Pohl, Daniela, Kauffman, Marcelo, Schiffmann, Raphael, Goizet, Cyril, Moutton, Sebastien, Roncarolo, Federico, Bernard, Geneviève

المساهمون: A. Mirchi, F. Pelletier, L.T. Tran, S. Keller, N. Braverman, D. Tonduti, A. Vanderver, A. Pizzino, M. Dilenge, C. Poulin, M. Shevell, A. Majnemer, G. Sébire, M. Srour, B. Osterman, R. Boucher, M. Vanasse, E. Rossignol, J. Mitchell, S. Venkateswaran, D. Pohl, M. Kauffman, R. Schiffmann, C. Goizet, S. Moutton, F. Roncarolo, G. Bernard

مصطلحات موضوعية: Genetic leukoencephalopathie, Genetically determined leukoencephalopathie, Health-related quality of life, Leukodystrophie, Pediatric Quality of Life Inventory, Adolescent, Adult, Child, Preschool, Female, Human, Infant, Male, Severity of Illness Index, Young Adult, Leukoencephalopathie, Quality of Life, Settore MED/39 - Neuropsichiatria Infantile

Relation: info:eu-repo/semantics/altIdentifier/pmid/29859719; info:eu-repo/semantics/altIdentifier/wos/WOS:000438328100005; volume:84; firstpage:21; lastpage:26; numberofpages:6; journal:PEDIATRIC NEUROLOGY; https://hdl.handle.net/2434/938859; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85047615685

الاتاحة: https://hdl.handle.net/2434/938859
https://doi.org/10.1016/j.pediatrneurol.2018.03.015

المؤلفون: Benzoni C., Moscatelli M., Farina L., Magri S., Ciano C., Scaioli V., Alvera S., Cammarata G., Bianchi-Marzoli S., Castellani M., Zito F. M., Marotta G., Piacentini S., Villacara A., Mantegazza R., Gellera C., Duraes J., Gouveia A., Matos A., do Carmo Macario M., Pareyson D., Taroni F., Di Bella D., Salsano E.

المساهمون: Benzoni, C, Moscatelli, M, Farina, L, Magri, S, Ciano, C, Scaioli, V, Alvera, S, Cammarata, G, Bianchi-Marzoli, S, Castellani, M, Zito, F, Marotta, G, Piacentini, S, Villacara, A, Mantegazza, R, Gellera, C, Duraes, J, Gouveia, A, Matos, A, do Carmo Macario, M, Pareyson, D, Taroni, F, Di Bella, D, Salsano, E

مصطلحات موضوعية: Genetic leukoencephalopathie, Leukodystrophie, MRI, PET, Stroke

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37171481; info:eu-repo/semantics/altIdentifier/wos/WOS:000985695300001; volume:270; issue:9; firstpage:4219; lastpage:4234; numberofpages:16; journal:JOURNAL OF NEUROLOGY; https://hdl.handle.net/10281/527830

الاتاحة: https://hdl.handle.net/10281/527830
https://doi.org/10.1007/s00415-023-11762-7

المؤلفون: Hamilton E. M. C., van der Lei H. D. W., Vermeulen G., Gerver J. A. M., Lourenco C. M., Naidu S., Mierzewska H., Gemke R. J. B. J., de Vet H. C. W., Uitdehaag B. M. J., Lissenberg-Witte B. I., Research Group V. W. M., van der Knaap M. S., Ferlini A.

المساهمون: Hamilton, E. M. C., van der Lei, H. D. W., Vermeulen, G., Gerver, J. A. M., Lourenco, C. M., Naidu, S., Mierzewska, H., Gemke, R. J. B. J., de Vet, H. C. W., Uitdehaag, B. M. J., Lissenberg-Witte, B. I., Research Group, V. W. M., van der Knaap, M. S., Ferlini, A.

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Child, Preschool, Female, Follow-Up Studie, Human, Infant, Newborn, Leukoencephalopathie, Longitudinal Studie, Male, Middle Aged, White Matter, Young Adult

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30014503; info:eu-repo/semantics/altIdentifier/wos/WOS:000444576400012; volume:84; issue:2; firstpage:274; lastpage:288; numberofpages:15; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11392/2408114; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85052963963

الاتاحة: http://hdl.handle.net/11392/2408114
https://doi.org/10.1002/ana.25287
https://onlinelibrary.wiley.com/doi/10.1002/ana.25287

المؤلفون: Maggio P., Altamura C., Lupoi D., Paolucci M., Altavilla R., Tibuzzi F., Passarelli F., Arpesani R., Di Giambattista G., Grasso R. F., Luppi G., Fiacco F., Silvestrini M., Pasqualetti P., Vernieri F.

المساهمون: Maggio, P., Altamura, C., Lupoi, D., Paolucci, M., Altavilla, R., Tibuzzi, F., Passarelli, F., Arpesani, R., Di Giambattista, G., Grasso, R. F., Luppi, G., Fiacco, F., Silvestrini, M., Pasqualetti, P., Vernieri, F.

مصطلحات موضوعية: carotid artery stenting, diffusion-weighted image, white matter hyperintensitie, aged, 80 and over, angioplasty, balloon, carotid stenosi, chi-square distribution, female, human, intracranial embolism, italy, leukoencephalopathie, logistic model, male, multivariate analysi, odds ratio, predictive value of test, retrospective studie, riska assessment, risk factor, treatment outcome, diffusion magnetic resonance imaging, stents

Relation: info:eu-repo/semantics/altIdentifier/pmid/28125807; info:eu-repo/semantics/altIdentifier/wos/WOS:000396425900001; volume:7; issue:1; firstpage:1; lastpage:8; numberofpages:8; journal:CEREBROVASCULAR DISEASES. EXTRA; http://hdl.handle.net/11573/1578672; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85011690453

الاتاحة: http://hdl.handle.net/11573/1578672
https://doi.org/10.1159/000452717

المؤلفون: Leidi A., Previtali R., Parazzini C., Raviglione F., Carelli S., Mendes M. I., Salomons G. S., Iascone M., Tonduti D.

المساهمون: A. Leidi, R. Previtali, C. Parazzini, F. Raviglione, S. Carelli, M.I. Mende, G.S. Salomon, M. Iascone, D. Tonduti

مصطلحات موضوعية: Human, Phenotype, Leukoencephalopathie, Settore MED/39 - Neuropsichiatria Infantile

Relation: info:eu-repo/semantics/altIdentifier/pmid/35168888; info:eu-repo/semantics/altIdentifier/wos/WOS:000800244500020; volume:24; issue:5; firstpage:1152; lastpage:1153; numberofpages:2; journal:GENETICS IN MEDICINE; http://hdl.handle.net/2434/938729; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85129437997

الاتاحة: http://hdl.handle.net/2434/938729
https://doi.org/10.1016/j.gim.2022.01.010

المؤلفون: Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yoann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O'Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, CORDELLI, DUCCIO MARIA, De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E. G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, Van Der Knaap, Marjo S., Livingston, John H., O'Keefe, Raymond T., Crow, Yanick J.

المساهمون: Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yoann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O'Sullivan, Jame, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E. G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, Van Der Knaap, Marjo S., Livingston, John H., O'Keefe, Raymond T., Crow, Yanick J.

مصطلحات موضوعية: Adolescent, Adult, Calcinosi, Cell Line, Cerebral Small Vessel Disease, Child, Preschool, Chromosomes, Human, Pair 17, Cohort Studie, Cyst, Exome, Female, Genetic Linkage, Genome, Infant, Leukoencephalopathie, Male, Middle Aged, RNA, Small Nucleolar, Sequence Analysis, DNA, Young Adult, Mutation, Genetics

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/27571260; info:eu-repo/semantics/altIdentifier/wos/WOS:000384391600013; volume:48; issue:10; firstpage:1185; lastpage:1192; numberofpages:8; journal:NATURE GENETICS; http://hdl.handle.net/11585/635698; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84984623213; http://www.nature.com/ng/index.html

الاتاحة: http://hdl.handle.net/11585/635698
https://doi.org/10.1038/ng.3661
http://www.nature.com/ng/index.html

المؤلفون: N. Maio, D. Ghezzi, D. Verrigni, T. Rizza, E. Bertini, D. Martinelli, M. Zeviani, A. Singh, R. Carrozzo, T. A. Rouault

المساهمون: N. Maio, D. Ghezzi, D. Verrigni, T. Rizza, E. Bertini, D. Martinelli, M. Zeviani, A. Singh, R. Carrozzo, T.A. Rouault

مصطلحات موضوعية: amino acid motif, amino acid sequence, Electron Transport Complex II, female, HEK293 cell, human, hypoxia-inducible factor 1, alpha subunit, infant, newborn, iron-sulfur protein, leukoencephalopathie, molecular chaperone, molecular sequence data, mutation, protein binding, protein, riboflavin, succinate dehydrogenase, succinate, physiology, molecular biology, cell biology, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

Relation: info:eu-repo/semantics/altIdentifier/pmid/26749241; info:eu-repo/semantics/altIdentifier/wos/WOS:000373613800008; volume:23; issue:2; firstpage:292; lastpage:302; numberofpages:11; journal:CELL METABOLISM; http://hdl.handle.net/2434/523741; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84957933845

الاتاحة: http://hdl.handle.net/2434/523741
https://doi.org/10.1016/j.cmet.2015.12.005

المؤلفون: A. M. Lyons, A. Ardissone, A. Reyes, A. J. Robinson, I. Moroni, E. Fernandez Vizarra, M. Zeviani, D. Ghezzi

المساهمون: A.M. Lyon, A. Ardissone, A. Reye, A.J. Robinson, I. Moroni, D. Ghezzi, E. Fernandez Vizarra, M. Zeviani

مصطلحات موضوعية: COX assembly, molecular genetic, neurology, mitochondrial disease, mitochondrial respiratory chaixn, amino acid sequence, cytochrome-C oxidase deficiency, DNA mutational analysi, female, human, leukoencephalopathie, mitochondria, mitochondrial protein, sequence alignment, young adult, mutation, genetic, genetics (clinical), Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

Relation: info:eu-repo/semantics/altIdentifier/pmid/27683825; info:eu-repo/semantics/altIdentifier/wos/WOS:000391457200009; volume:53; issue:12; firstpage:846; lastpage:849; numberofpages:4; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2434/523712; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85028270331

الاتاحة: http://hdl.handle.net/2434/523712
https://doi.org/10.1136/jmedgenet-2016-104194

المؤلفون: C. Chiesa, PACIFICO, Lucia, F. Natale, N. Hofer, B. Resch, OSBORN, John Frederick

المساهمون: C., Chiesa, Pacifico, Lucia, F., Natale, N., Hofer, B., Resch, Osborn, John Frederick

مصطلحات موضوعية: Diagnostic accuracy, Early-onset neonatal sepsi, Fetal inflammatory response syndrome, Interleukin-6, Reference interval, Data Accuracy, Female, Fetal Blood, Fetu, Gestational Age, Human, Infant, Newborn, Leukoencephalopathie, Pregnancy, Premature Birth, Reference Value, Sepsi, Systemic Inflammatory Response Syndrome, Immunology and Allergy, Immunology, Biochemistry, Hematology, Molecular Biology

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/25890877; info:eu-repo/semantics/altIdentifier/wos/WOS:000361862400001; volume:76; issue:1; firstpage:1; lastpage:12; numberofpages:12; journal:CYTOKINE; http://hdl.handle.net/11573/780786; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84941746624; http://www.elsevier.com/inca/publications/store/6/2/2/8/1/5/index.htt

الاتاحة: http://hdl.handle.net/11573/780786
https://doi.org/10.1016/j.cyto.2015.03.015
http://www.elsevier.com/inca/publications/store/6/2/2/8/1/5/index.htt

المؤلفون: M. D. Macfarlane, J. C. L. Looi, M. Walterfang, G. Spulber, D. Velakoulis, M. Styner, M. Crisby, E. Örndahl, T. Erkinjuntti, G. Waldemar, E. Garde, M. G. Hennerici, H. Bäzner, C. Blahak, A. Wallin, L. Wahlund, T. Pohjasvaara, P. Pihanen, R. Ylikoski, H. Jokinen, M. Somerkoski, R. Mäntylä, O. Salonen, F. Fazekas, R. Schmidt, S. Ropele, B. Rous, K. Petrovic, U. Garmehi, A. Seewann, J. M. Ferro, A. Verdelho, S. Madureira, C. Moleiro, P. Scheltens, I. Van Straaten, F. Barkhof, A. Gouw, W. Van Der Flier, M. Jonsson, K. Lind, A. Nordlund, S. Rolstad, I. Isblad, A. Pettersson, K. Amberla, H. Chabriat, K. Hernandez, A. Kurtz, D. Herveacute, S. Benisty, J. P. Guichard, H. Baezner, M. Wiarda, S. Seip, E. Rostrup, C. Ryberg, T. Dyrby, O. B. Paulson, K. S. Frederiksen, J. O'Brien, S. Pakrasi, M. Krishnan, A. Teodorczuk, M. Firbank, T. Minett, D. Inzitari, L. Bartolini, A. M. Basile, E. Magnani, M. Martini, M. Mascalchi, M. Moretti, L. Pantoni, A. Poggesi, G. Pracucci, E. Salvadori, M. Simoni

المساهمون: M.D. Macfarlane, J.C.L. Looi, M. Walterfang, G. Spulber, D. Velakouli, M. Styner, M. Crisby, E. Örndahl, T. Erkinjuntti, G. Waldemar, E. Garde, M.G. Hennerici, H. Bäzner, C. Blahak, A. Wallin, L. Wahlund, T. Pohjasvaara, P. Pihanen, R. Ylikoski, H. Jokinen, M. Somerkoski, R. Mäntylä, O. Salonen, F. Fazeka, R. Schmidt, S. Ropele, B. Rou, K. Petrovic, U. Garmehi, A. Seewann, J.M. Ferro, A. Verdelho, S. Madureira, C. Moleiro, P. Schelten, I. Van Straaten, F. Barkhof, A. Gouw, W. Van Der Flier, M. Jonsson, K. Lind, A. Nordlund, S. Rolstad, I. Isblad, A. Pettersson, K. Amberla, H. Chabriat, K. Hernandez, A. Kurtz, D. Herveacute, S. Benisty, J.P. Guichard, H. Baezner, M. Wiarda, S. Seip, E. Rostrup, C. Ryberg, T. Dyrby, O.B. Paulson, K.S. Frederiksen, J. O'Brien, S. Pakrasi, M. Krishnan, A. Teodorczuk, M. Firbank, T. Minett, D. Inzitari, L. Bartolini, A.M. Basile, E. Magnani, M. Martini, M. Mascalchi, M. Moretti, L. Pantoni, A. Poggesi, G. Pracucci, E. Salvadori, M. Simoni

مصطلحات موضوعية: caudate nucleu, gait, MRI, Striatum, white matter disease, Aged, 80 and over, Female, Human, Leukoencephalopathie, Magnetic Resonance Imaging, Male, Postural Balance, Geriatrics and Gerontology, Psychiatry and Mental Health, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/23916546; info:eu-repo/semantics/altIdentifier/wos/WOS:000346204400007; volume:23; issue:1; firstpage:59; lastpage:71; numberofpages:13; journal:AMERICAN JOURNAL OF GERIATRIC PSYCHIATRY; http://hdl.handle.net/2434/577410; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84928026764

الاتاحة: http://hdl.handle.net/2434/577410
https://doi.org/10.1016/j.jagp.2013.04.011

المؤلفون: Di Bella D., Magri S., Benzoni C., Farina L., Maccagnano C., Sarto E., Moscatelli M., Baratta S., Ciano C., Piacentini S. H. M. J., Draghi L., Mauro E., Pareyson D., Gellera C., Taroni F., Salsano E.

المساهمون: Di Bella, D, Magri, S, Benzoni, C, Farina, L, Maccagnano, C, Sarto, E, Moscatelli, M, Baratta, S, Ciano, C, Piacentini, S, Draghi, L, Mauro, E, Pareyson, D, Gellera, C, Taroni, F, Salsano, E

مصطلحات موضوعية: genetic leukoencephalopathie, hypomyelination, leukodystrophie, peroxisome biogenesis disorder, spastic paraplegia

Relation: info:eu-repo/semantics/altIdentifier/pmid/33190326; info:eu-repo/semantics/altIdentifier/wos/WOS:000595327800001; volume:28; issue:3; firstpage:934; lastpage:944; numberofpages:11; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/10281/327550; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097008114

الاتاحة: http://hdl.handle.net/10281/327550
https://doi.org/10.1111/ene.14646

المؤلفون: C. Dallabona, D. Diodato, S. H. Kevelam, T. B. Haack, L. Wong, G. S. Salomons, E. Baruffini, L. Melchionda, C. Mariotti, T. M. Strom, T. Meitinger, H. Prokisch, K. Chapman, A. Colley, H. Rocha, K. Ounap, R. Schiffmann, E. Salsano, M. Savoiardo, E. M. Hamilton, T. E. . M. Abbink, N. I. Wolf, I. Ferrero, C. Lamperti, M. Zeviani, A. Vanderver, M. S. Van Der Knaap, D. Ghezzi

المساهمون: C. Dallabona, D. Diodato, S.H. Kevelam, T.B. Haack, L. Wong, G.S. Salomon, E. Baruffini, L. Melchionda, C. Mariotti, T.M. Strom, T. Meitinger, H. Prokisch, K. Chapman, A. Colley, H. Rocha, K. Ounap, R. Schiffmann, E. Salsano, M. Savoiardo, E.M. Hamilton, T.E.M. Abbink, N.I. Wolf, I. Ferrero, C. Lamperti, M. Zeviani, A. Vanderver, D. Ghezzi, M.S. Van Der Knaap

مصطلحات موضوعية: adolescent, adult, alanine-tRNA ligase, ataxia, atrophy, cognition disorder, exon, female, human, leukoencephalopathie, magnetic resonance imaging, male, muscle spasticity, mutation, phenotype, primary ovarian insufficiency, young adult, neurology (clinical), arts and humanities (miscellaneous), Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

Relation: info:eu-repo/semantics/altIdentifier/pmid/24808023; info:eu-repo/semantics/altIdentifier/wos/WOS:000342819500008; volume:82; issue:23; firstpage:2063; lastpage:2071; numberofpages:9; journal:NEUROLOGY; http://hdl.handle.net/2434/523768; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84903955232

الاتاحة: http://hdl.handle.net/2434/523768
https://doi.org/10.1212/WNL.0000000000000497

المؤلفون: L. Melchionda, T. B. Haack, S. Hardy, T. E. M. Abbink, E. Fernandez Vizarra, E. Lamantea, S. Marchet, L. Morandi, M. Moggio, R. Carrozzo, A. Torraco, D. Diodato, T. M. Strom, T. Meitinger, P. Tekturk, Z. Yapici, F. Al Murshedi, R. Stevens, R. J. Rodenburg, C. Lamperti, A. Ardissone, I. Moroni, G. Uziel, H. Prokisch, R. W. Taylor, E. Bertini, M. S. Van Der Knaap, M. Zeviani, D. Ghezzi

المساهمون: L. Melchionda, T.B. Haack, S. Hardy, T.E.M. Abbink, E. Fernandez Vizarra, E. Lamantea, S. Marchet, L. Morandi, M. Moggio, R. Carrozzo, A. Torraco, D. Diodato, T.M. Strom, T. Meitinger, P. Tekturk, Z. Yapici, F. Al Murshedi, R. Steven, R.J. Rodenburg, C. Lamperti, A. Ardissone, I. Moroni, G. Uziel, H. Prokisch, R.W. Taylor, E. Bertini, M.S. Van Der Knaap, D. Ghezzi, M. Zeviani

مصطلحات موضوعية: adolescent, adult, apoptosis regulatory protein, cells, cultured, child, preschool, cytochrome-c oxidase deficiency, electron transport complex iv, female, fibroblast, human, infant, leukoencephalopathie, magnetic resonance imaging, male, mitochondria, mitochondrial protein, mutation, myoblast, genetic, genetics (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/25175347; info:eu-repo/semantics/altIdentifier/wos/WOS:000341404100008; volume:95; issue:3; firstpage:315; lastpage:325; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523774; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84908254396

الاتاحة: http://hdl.handle.net/2434/523774
https://doi.org/10.1016/j.ajhg.2014.08.003

المؤلفون: Claudia Ciano, Davide Pareyson, Cinzia Gellera, Ettore Salsano, Sylvie Piacentini, Daniela Di Bella, Franco Taroni, Elisa Sarto, Marco Moscatelli, Laura Farina, Chiara Benzoni, Lara Draghi, Elena Mauro, Carmelo Maccagnano, Stefania Magri, Silvia Baratta

المساهمون: Di Bella, D, Magri, S, Benzoni, C, Farina, L, Maccagnano, C, Sarto, E, Moscatelli, M, Baratta, S, Ciano, C, Piacentini, S, Draghi, L, Mauro, E, Pareyson, D, Gellera, C, Taroni, F, Salsano, E

المصدر: European journal of neurologyREFERENCES. 28(3)

مصطلحات موضوعية: Adult, Spastic gait, spastic paraplegia, genetic leukoencephalopathie, hypomyelination, Oculodentodigital dysplasia, Bioinformatics, medicine.disease_cause, 03 medical and health sciences, GJC2, 0302 clinical medicine, Leukoencephalopathies, Gene duplication, medicine, Humans, 030212 general & internal medicine, X chromosome, Mutation, peroxisome biogenesis disorder, business.industry, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, Neurology, leukodystrophie, Etiology, Female, Neurology (clinical), business, Microtubule-Associated Proteins, 030217 neurology & neurosurgery, Demyelinating Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af097ec7f64bf23f785da0ed89602572
https://pubmed.ncbi.nlm.nih.gov/33400842

المؤلفون: Benzoni C., Aquino D., Di Bella D., Sarto E., Moscatelli M., Pareyson D., Taroni F., Salsano E.

المساهمون: Benzoni, C, Aquino, D, Di Bella, D, Sarto, E, Moscatelli, M, Pareyson, D, Taroni, F, Salsano, E

مصطلحات موضوعية: Alexander disease, Leukoencephalopathie, Nervous system trauma

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/32223977; info:eu-repo/semantics/altIdentifier/wos/WOS:000528270700041; volume:75; firstpage:221; lastpage:223; numberofpages:3; journal:JOURNAL OF CLINICAL NEUROSCIENCE; https://hdl.handle.net/10281/527781

الاتاحة: https://hdl.handle.net/10281/527781
https://doi.org/10.1016/j.jocn.2020.03.033

المؤلفون: Mao, Dongxue, Reuter, Chloe M, Ruzhnikov, Maura R Z, Beck, Anita E, Farrow, Emily G, Emrick, Lisa T, Rosenfeld, Jill A, Mackenzie, Katherine M, Robak, Laurie, Wheeler, Matthew T, Burrage, Lindsay C, Jain, Mahim, Liu, Pengfei, Calame, Daniel, Küry, Sébastien, Sillesen, Martin, Schmitz-Abe, Klaus, Tonduti, Davide, Spaccini, Luigina, Iascone, Maria, Genetti, Casie A, Koenig, Mary K, Graf, Madeline, Tran, Alyssa, Alejandro, Mercedes, Lee, Brendan H, Thiffault, Isabelle, Agrawal, Pankaj B, Bernstein, Jonathan A, Bellen, Hugo J, Chao, Hsiao-Tuan

المساهمون: D. Mao, C.M. Reuter, M.R.Z. Ruzhnikov, A.E. Beck, E.G. Farrow, L.T. Emrick, J.A. Rosenfeld, K.M. Mackenzie, L. Robak, M.T. Wheeler, L.C. Burrage, M. Jain, P. Liu, D. Calame, S. Küry, M. Sillesen, K. Schmitz-Abe, D. Tonduti, L. Spaccini, M. Iascone, C.A. Genetti, M.K. Koenig, M. Graf, A. Tran, M. Alejandro, B.H. Lee, I. Thiffault, P.B. Agrawal, J.A. Bernstein, H.J. Bellen, H. Chao

مصطلحات موضوعية: EIF2S1, EIF2α, abnormal myelination, cognitive impairment, febrile illnesse, hypomyelination, hypotonia, integrated stress response, movement disorder, regression, Adolescent, Ataxia, Child, Preschool, Developmental Disabilitie, Female, Genetic Variation, Hereditary Central Nervous System Demyelinating Disease, Human, Infant, Leukoencephalopathie, Male, Nervous System Malformation, White Matter, eIF-2 Kinase, Settore MED/39 - Neuropsichiatria Infantile

Relation: info:eu-repo/semantics/altIdentifier/pmid/32197074; info:eu-repo/semantics/altIdentifier/wos/WOS:000523306000013; volume:106; issue:4; firstpage:570; lastpage:583; numberofpages:14; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/2434/938855; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082415128

الاتاحة: https://hdl.handle.net/2434/938855
https://doi.org/10.1016/j.ajhg.2020.02.016