المؤلفون: Messerschmidt, Clemens, Foddis, Marco, Blumenau, Sonja, Müller, Susanne, Bentele, Kajetan, Holtgrewe, Manuel, Kun-Rodrigues, Celia, Alonso, Isabel, do Carmo Macario, Maria, Morgadinho, Ana Sofia, Velon, Ana Graça, Santo, Gustavo, Santana, Isabel, Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Pöyhönen, Minna, Myllykangas, Liisa, Senatore, Assunta, Berchtold, Daniel, Winek, Katarzyna, Meisel, Andreas, Pavlović, Aleksandra, Kostić, Vladimir, Dobricic, Valerija, Lohmann, Ebba, Hanagasi, Hasmet, Guven, Gamze, Bilgic, Basar, Bras, Jose, Guerreiro, Rita, Beule, Dieter, Dirnagl, Ulrich, Sassi, Celeste

المصدر: Scientific Reports

مصطلحات موضوعية: Clinical genetics, Disease genetics, Genetics

العلاقة: https://www.nature.com/articles/s41598-021-84919-xTest; http://rfasper.fasper.bg.ac.rs/handle/123456789/5024Test; http://rfasper.fasper.bg.ac.rs/bitstream/id/9913/bitstream_9913.pdfTest; 2-s2.0-85102702342; 000630513600010

الإتاحة: https://doi.org/10.1038/s41598-021-84919-xTest
http://rfasper.fasper.bg.ac.rs/handle/123456789/5024Test
https://www.nature.com/articles/s41598-021-84919-xTest
http://rfasper.fasper.bg.ac.rs/bitstream/id/9913/bitstream_9913.pdfTest

المؤلفون: Martins, Sara, Santos, Maria João, Teixeira, Márcia, Diogo, Luísa, do Carmo Macário, Maria, Marques, João Pedro, Fonseca, Pedro, Grazina, Manuela

المساهمون: Fundação para a Ciência e a Tecnologia, European Regional Development Fund, Programa Operacional Temático Factores de Competitividade

المصدر: Mitochondrion ; volume 69, page 64-70 ; ISSN 1567-7249

مصطلحات موضوعية: Cell Biology, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.mito.2023.01.006Test
https://api.elsevier.com/content/article/PII:S1567724923000065?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1567724923000065?httpAccept=text/plainTest

المؤلفون: Matos, Sara, Martins, Ana Inês, Jorge, André, do Carmo Macário, Maria, Pereira, Daniela, Strupp, Michael, Lemos, João

المصدر: Practical Neurology; Feb2024, Vol. 24 Issue 1, p51-55, 5p

مصطلحات موضوعية: MULTIPLE sclerosis, NYSTAGMUS, BENIGN paroxysmal positional vertigo, DEMYELINATION, SEMICIRCULAR canals, ABDUCENS nerve diseases, DISEASE complications

المؤلفون: Messerschmidt, Clemens, Foddis, Marco, Blumenau, Sonja, Müller, Susanne, Bentele, Kajetan, Holtgrewe, Manuel, Kun-Rodrigues, Celia, Alonso, Isabel, do Carmo Macario, Maria, Morgadinho, Ana Sofia, Velon, Ana Graça, Santo, Gustavo, Santana, Isabel, Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Pöyhönen, Minna, Myllykangas, Liisa, Senatore, Assunta, Berchtold, Daniel, Winek, Katarzyna, Meisel, Andreas, Pavlovic, Aleksandra, Kostic, Vladimir, Dobricic, Valerija, Lohmann, Ebba, Hanagasi, Hasmet, Guven, Gamze, Bilgic, Basar, Bras, Jose, Guerreiro, Rita, Beule, Dieter, Dirnagl, Ulrich, Sassi, Celeste

مصطلحات موضوعية: PHACTR1, C57BL/6J mice, PcomA, ddc:610

وصف الملف: application/pdf

العلاقة: https://refubium.fu-berlin.de/handle/fub188/38139Test; http://dx.doi.org/10.17169/refubium-37852Test

الإتاحة: https://doi.org/10.17169/refubium-37852Test
https://doi.org/10.1038/s41598-021-84919-xTest
https://refubium.fu-berlin.de/handle/fub188/38139Test

المؤلفون: Benzoni, Chiara, Moscatelli, Marco, Farina, Laura, Magri, Stefania, Ciano, Claudia, Scaioli, Vidmer, Alverà, Sara, Cammarata, Gabriella, Bianchi-Marzoli, Stefania, Castellani, Massimo, Zito, Felicia Margherita, Marotta, Giorgio, Piacentini, Sylvie, Villacara, Alberto, Mantegazza, Renato, Gellera, Cinzia, Durães, João, Gouveia, Ana, Matos, Anabela, do Carmo Macário, Maria

المصدر: Journal of Neurology; Sep2023, Vol. 270 Issue 9, p4219-4234, 16p

مصطلحات موضوعية: WHITE matter (Nerve tissue), LEUKODYSTROPHY, DIFFUSION magnetic resonance imaging, EVOKED potentials (Electrophysiology), SYMPTOMS, MELAS syndrome

مصطلحات جغرافية: PORTUGAL, ITALY

المؤلفون: Oliveira, Ana Rafaela, Martins, Solange, Cammarata, Giuseppe, Martins, Mariana, Cardoso, Ana Maria, Almeida, Maria Rosário, do Carmo Macário, Maria, Santana, Isabel, Peça, João, Cardoso, Ana Luísa

المصدر: Biomedicines; Aug2022, Vol. 10 Issue 8, pN.PAG-N.PAG, 17p

مصطلحات موضوعية: FRONTOTEMPORAL lobar degeneration, PLURIPOTENT stem cells, NEURONAL ceroid-lipofuscinosis, GAIN-of-function mutations, GENETIC mutation

مصطلحات جغرافية: PORTUGAL

المؤلفون: Fadiga, Lúcia, Saraiva, Joana, Catarino, Diana, Reis, Guiomar Joana, Alexandra, Festas Silva Diana, Lavrador, Mariana, Esteves, Ferreira Sara, do, Carmo Macário Maria, Paiva, Isabel

المصدر: Endocrine Abstracts ; ISSN 1479-6848

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1530/endoabs.70.aep789Test
http://www.endocrine-abstracts.org/ea/0070/ea0070aep789.htmTest

المؤلفون: Pereira, Miguel, Durães, João, do Carmo Macário, Maria

المصدر: Practical Neurology; May2020, Vol. 20 Issue 3, p249-252, 4p, 2 Black and White Photographs, 1 Chart

مصطلحات موضوعية: GENETICS of epilepsy, MYOCLONUS genetics, ATAXIA, DIFFERENTIAL diagnosis, ELECTROENCEPHALOGRAPHY, ELECTROMYOGRAPHY, EPILEPSY, MAGNETIC resonance imaging, MYOCLONUS, POLYNEUROPATHIES, ADULTS

المؤلفون: Ribeiro, Carolina, do Carmo Macário, Maria, Viegas, Ana Teresa, Pratas, João, Santos, Maria João, Simões, Marta, Mendes, Cândida, Bacalhau, Mafalda, Garcia, Paula, Diogo, Luísa, Grazina, Manuela

المساهمون: FCT

المصدر: Mitochondrion ; volume 31, page 84-88 ; ISSN 1567-7249

مصطلحات موضوعية: Cell Biology, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.mito.2016.10.004Test
https://api.elsevier.com/content/article/PII:S1567724916302094?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1567724916302094?httpAccept=text/plainTest

المؤلفون: Domingos, Joana¹ joanadomingos@hotmail.com, Isidoro, Luís² luis_isidoro@yahoo.com, Figueiredo, Rita³ ritaflg7@gmail.com, Brum, Marisa³ marisatbrum@gmail.com, Capela, Carlos⁴ cmc120@gmail.com, Barros, Pedro⁵ pedrojgbarros@gmail.com, Santos, Ernestina^1,6 ernestina.santos@gmail.com, do Carmo Macário, Maria² carmo.macario@gmail.com, Marques, José Pinto⁷ josefernandopintomarques@gmail.com, Pedrosa, Rui⁴ rui.pedrosa@chlc.min-saude.pt, Vale, José⁸ Josevale.neuro@gmail.com, Sá, Maria José^9,10 mjsa@med.up.pt

المصدر: Clinical Neurology & Neurosurgery. Jul2015, Vol. 134, p79-84. 6p.

مصطلحات موضوعية: *NEUROMYELITIS optica, *EPIDEMIOLOGY, *DEMYELINATION, *MAGNETIC resonance imaging, *PATIENTS, *DIAGNOSIS, *THERAPEUTICS

مصطلحات جغرافية: PORTUGAL