Search

Your search keyword '"Rebelo, Olinda"' showing total 176 results
Start Over Author "Rebelo, Olinda"
176 results on '"Rebelo, Olinda"'

1. The long non-coding RNA HOTAIR is transcriptionally activated by HOXA9 and is an independent prognostic marker in patients with malignant glioma

Author

Xavier-Magalhães, Ana, Gonçalves, Céline, Fogli, Anne, Lourenço, Tatiana, Pojo, Marta, Pereira, Bruno, Rocha, Miguel, Lopes, Maria, Crespo, Inês, Rebelo, Olinda, Tão, Herminio, Lima, João, Moreira, Ricardo, Pinto, Afonso, Jones, Chris, Reis, Rui, Costello, Joseph, Arnaud, Philippe, Sousa, Nuno, and Costa, Bruno

Subjects
Quantitative Biology - Genomics, Quantitative Biology - Molecular Networks
Abstract

The lncRNA HOTAIR has been implicated in several human cancers. Here, we evaluated the molecular alterations and upstream regulatory mechanisms of HOTAIR in glioma, the most common primary brain tumors, and its clinical relevance. HOTAIR gene expression, methylation, copy-number and prognostic value were investigated in human gliomas integrating data from online datasets and our cohorts. High levels of HOTAIR were associated with higher grades of glioma, particularly IDH wild-type cases. Mechanistically, HOTAIR was overexpressed in a gene dosage-independent manner, while DNA methylation levels of particular CpGs in HOTAIR locus were associated with HOTAIR expression levels in GBM clinical specimens and cell lines. Concordantly, the demethylating agent 5-Aza-2'-deoxycytidine affected HOTAIR transcriptional levels in a cell line-dependent manner. Importantly, HOTAIR was frequently co-expressed with HOXA9 in high-grade gliomas from TCGA, Oncomine, and our Portuguese and French datasets. Integrated in silico analyses, chromatin immunoprecipitation, and qPCR data showed that HOXA9 binds directly to the promoter of HOTAIR. Clinically, GBM patients with high HOTAIR expression had a significantly reduced overall survival, independently of other prognostic variables. In summary, this work reveals HOXA9 as a novel direct regulator of HOTAIR, and establishes HOTAIR as an independent prognostic marker, providing new therapeutic opportunities to treat this highly aggressive cancer.

Published
2018

2. Epigenetic Analysis of Long-term Epilepsy-Associated Tumors by Methylation-Specific Multiplex Ligation-dependent Probe Amplification

Author

Jesus-Ribeiro, Joana, primary, Ribeiro, Ilda Patrícia, additional, Pires, Luis Miguel, additional, Rebelo, Olinda, additional, Pereira, Ricardo, additional, Bento, Conceição, additional, Sales, Francisco, additional, Santana, Isabel, additional, Freire, António, additional, and Barbosa Melo, Joana, additional

Published
2024
Full Text
View/download PDF

8. Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study

Author

Aichholzer, Martin, Amorim, Isabel, Aparicio, Javier, Aronica, Eleonora, Arzimanoglou, Alexis, Barba, Carmen, Beck, Jürgen, Becker, Albert, Beckervordersandforth, Jan C, Bien, Christian G, Blümcke, Ingmar, Bodi, Istvan, Braun, Kees PJ, Catenoix, Helene, Chassoux, Francine, Chipaux, Mathilde, Cloppenborg, Thomas, Coras, Roland, Cross, J Helen, De Palma, Luca, De Tisi, Jane, Deleo, Francesco, Devaux, Bertrand, Di Gennaro, Giancarlo, Dorfmüller, Georg, Duncan, John S, Elger, Christian, Ernst, Katharina, Esposito, Vincenzo, Feucht, Martha, Gadze, Zeljka Petelin, Garbelli, Rita, Geleijns, Karin, Gil-Nagel, Antonio, Grote, Alexander, Grunwald, Thomas, Guerrini, Renzo, Hamer, Hajo, Honavar, Mrinalini, Jacques, Thomas S, Jakovcevic, Antonia, Jutila, Leena, Kalina, Adam, Kälviäinen, Reetta, Klein, Karl Martin, Koenig, Kristina, Krsek, Pavel, Kudernatsch, Manfred, Kudr, Martin, Lamberink, Herm J, Malmgren, Kristina, Marusic, Petr, Melikyan, Armen, Menzler, Katja, Noachtar, Soheyl, Otte, Willem M, Özkara, Çiğdem, Pieper, Tom, Pimentel, Jose, Raicevic, Savo, Rheims, Sylvain, Ribeiro, Joana, Rosenow, Felix, Rössler, Karl, Rydenhag, Bertil, Sales, Francisco, San Antonio-Arce, Victoria, Schaller, Karl Lothar, Schijns, Olaf, Scholl, Theresa, Schramm, Johannes, Schulze-Bonhage, Andreas, Sciot, Raf, Seeck, Margitta, Shishkina, Lyudmila, Sokic, Dragoslav, Specchio, Nicola, Theys, Tom, Thom, Maria, Delgado, Rafael Toledano, Toulouse, Joseph, Uzan, Mustafa, van Loon, Johannes, Van Paesschen, Wim, von Oertzen, Tim J, Jansen, Floor, Leijten, Frans, van Rijen, Peter, Spliet, Wim GM, Mühlebner, Angelika, Kasper, Burkhard S, Fauser, Susanne, Polster, Tilman, Kalbhenn, Thilo, Delev, Daniel, McEvoy, Andrew, Miserocchi, Anna, Landré, Elisabeth, Turak, Bares, Varlet, Pascale, Ferrand-Sorbets, Sarah, Fohlen, Martine, Bulteau, Christine, Edelvik, Anna, Shah, Mukesch J, Scheiwe, Christian, Delicado, Eva Gutierrez, Tisdall, Martin, Eltze, Christin, Akkol, Serdar, Deniz, Kaancan, Oz, Buge, Holthausen, Hans, Hartlieb, Till, Staudt, Martin, Casciato, Sara, Quarato, Pier P, Giangaspero, Felice, Streichenberger, Nathalie, Guenot, Marc, Isnard, Jean, Valentijn, Antonio, Chang, Amanda, Mullatti, Nandini, Zamecnik, Josef, Zarubova, Jana, Tomasek, Martin, Immonen, Arto, Saarela, Anni, Rauramaa, Tuomas, Lobrinus, Johannes A, Egervari, Kristof, Momjian, Shahan, Harti, Elisabeth, Lohr, Hannah, Kroell, Judith, Vermeulen, Lynn, Cleeren, Evy, Vlasov, Pavel, Kozlova, Antonia, Vorobyev, Alexey, Goeppel, Gudrun, Samueli, Sharon, Czech, Thomas, Hainfellner, Johannes, Puttinger, Gertraud, Schwarz, Gabriele, Stefanits, Harald, Weis, Serge, Spreafico, Roberto, Villani, Flavio, Rossini, Laura, Hermsen, Anke, Knake, Susanne, Nimsky, Christopher, Carl, Barbara, Belohlavkova, Anezka, Benova, Barbora, Bisschop, Jeroen, Colon, Albert, van Kranen-Mastenbroek, Vivianne, Rouhl, Rob PW, Hoogland, Govert, Rumiá, Jordi, Ramírez-Camacho, Alia, Candela-Cantó, Santiago, Ostrowsky-Coste, Karine, Panagiotakaki, Eleni, Montavont, Alexandra, Kosal, Pascale Keo, Gokce-Samar, Zeynep, Milleret, Clara, Buccoliero, Anna M, Giordano, Flavio, Sulentic, Vlatko, Mrak, Goran, Desnica, Andrej, CarfíPavia, Giusy, De Benedictis, Alessandro, Marras, Carlo E, Bascarevic, Vladimir, Vojvodic, Nikola, Ristic, Aleksandar, Rebelo, Olinda, Aledo-Serrano, Angel, Garcia-Morales, Irene, Anciones, Carla, and Braun, Kees P J

Published
2020
Full Text
View/download PDF

10. Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course

Author

Wefers, Annika K., Stichel, Damian, Schrimpf, Daniel, Coras, Roland, Pages, Mélanie, Tauziède-Espariat, Arnault, Varlet, Pascale, Schwarz, Daniel, Söylemezoglu, Figen, Pohl, Ute, Pimentel, José, Meyer, Jochen, Hewer, Ekkehard, Japp, Anna, Joshi, Abhijit, Reuss, David E., Reinhardt, Annekathrin, Sievers, Philipp, Casalini, M. Belén, Ebrahimi, Azadeh, Huang, Kristin, Koelsche, Christian, Low, Hu Liang, Rebelo, Olinda, Marnoto, Dina, Becker, Albert J., Staszewski, Ori, Mittelbronn, Michel, Hasselblatt, Martin, Schittenhelm, Jens, Cheesman, Edmund, de Oliveira, Ricardo Santos, Queiroz, Rosane Gomes P., Valera, Elvis Terci, Hans, Volkmar H., Korshunov, Andrey, Olar, Adriana, Ligon, Keith L., Pfister, Stefan M., Jaunmuktane, Zane, Brandner, Sebastian, Tatevossian, Ruth G., Ellison, David W., Jacques, Thomas S., Honavar, Mrinalini, Aronica, Eleonora, Thom, Maria, Sahm, Felix, von Deimling, Andreas, Jones, David T. W., Blumcke, Ingmar, and Capper, David

Published
2020
Full Text
View/download PDF

11. Resective Epilepsy Surgery and Respective Histopathological Diagnoses: A Retrospective Cohort Study

Author

Jesus-Ribeiro, Joana, primary, Rebelo, Olinda, additional, Bento, Conceição, additional, Pereira, Cristina, additional, Robalo, Conceição, additional, Rito, Manuel, additional, Pereira, Ricardo, additional, Costa, José Augusto, additional, Barbosa Melo, Joana, additional, Freire, António, additional, Santana, Isabel, additional, and Sales, Francisco, additional

Published
2022
Full Text
View/download PDF

16. Cytogenomic Analysis of Long-Term Epilepsy-Associated Tumors Using an Array-Based CGH Strategy

Author

Jesus-Ribeiro, Joana, primary, Ribeiro, Ilda Patrícia, additional, Pires, Luís Miguel, additional, Paiva, Patrícia, additional, Simões, Sandra, additional, Pereira, Cristina, additional, Robalo, Conceição, additional, Pereira, Ricardo, additional, Sales, Francisco, additional, Rebelo, Olinda, additional, Santana, Isabel, additional, Freire, António, additional, and Barbosa Melo, Joana, additional

Published
2022
Full Text
View/download PDF

18. Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene

Author

Negrão, Luís, Machado, Rita, Lourenço, Miguel, Fernandez-Marmiesse, Ana, and Rebelo, Olinda

Subjects
Male, Neurologic Examination, subsarcolemmal hyaline bodies, Myosin Heavy Chains, Biopsy, Mutation, Missense, High-Throughput Nucleotide Sequencing, MYH7 gene variant, Middle Aged, laing early-onset distal myopathy, Distal Myopathies, Muscular Atrophy, Disease Progression, Humans, Original Article, Muscle Strength, Muscle, Skeletal, Cardiac Myosins
Abstract

Myopathies caused by MYH7 gene mutations are clinically and pathologically heterogeneous and, until recently, difficult to diagnose. The availability of NGS panels for hereditary neuromuscular diseases changed our insight regarding their frequency and allowed a better perception of the different phenotypes and morphological abnormalities associated. We present a male Portuguese patient with the classical phenotype of Laing early-onset distal myopathy (MPD1) beginning at 6 years of age, very slowly progressive, and with a mild to moderate impact on daily life by the age of 56. Muscle biopsy showed a myopathic pattern with hyaline bodies and cores. The NGS panel for structural myopathies identified a novel missense heterozygous variant, c.T4652C (p.Leu1551Pro), in the exon 34 of the MYH7 gene.

Published
2020

21. Subacute inflammatory myopathy associated with papillary cancer of the thyroid gland

Author

MARTINS, ANA INÊS, LAGES, ADRIANA, REBELO, OLINDA, and NEGRÃO, LUÍS

Subjects
polymyositis, dermatomyositis, thyroid gland papillary cancer, Myositis, inflammatory myopathy, Humans, Case Report, Female, Thyroid Neoplasms, Middle Aged, Carcinoma, Papillary
Abstract

Inflammatory myopathies comprise a group of rare autoimmune muscle diseases characterized by a variable degree of muscle weakness, elevated creatine kinase levels and necrotic fibres associated with invading inflammatory cells at histologic examination. Although there are several reports about their relationship with malignancy, association with papillary cancer of the thyroid gland is extremely rare. We present a case of a female patientdiagnosed withinflammatory myopathy and apapillary cancer of the thyroid gland, with a remarkable clinical improvement after thyroid cancer surgery and radioactive iodine treatment, supporting a correlation between the two conditions.

Published
2019

23. Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2

Author

Carneiro, Diogo Reis, primary, Rebelo, Olinda, additional, Matos, Anabela, additional, Baldeiras, Inês, additional, Almendra, Luciano, additional, Fernandes, Carolina, additional, Negrão, Luís, additional, Almeida, Maria Rosário, additional, Matias, Fernando, additional, Brás, José, additional, Guerreiro, Rita, additional, and Santo, Gustavo C, additional

Published
2021
Full Text
View/download PDF

30. Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant

Author

Bacalhau, Mafalda, Simões, Marta, Rocha, Mariana C., Hardy, Steven A., Vincent, Amy E., Durães, João, Macário, Maria C., Santos, Maria João, Rebelo, Olinda, Lopes, Carla, Pratas, João, Mendes, Cândida, Zuzarte, Mónica, Rego, A. Cristina, Girão, Henrique, Wong, Lee-Jun C., Taylor, Robert W., and Grazina, Manuela

Subjects
Bioenergetic dysfunction, Muscle Fibers, Skeletal, mtDNA common deletion, Middle Aged, DNA, Mitochondrial, Article, Mitochondria, Succinate Dehydrogenase, CPEO, Translation defect, Mutation, Humans, Female, Muscle, Skeletal, A%29%22">mt-tRNA variant (m.7486G>A), Sequence Deletion
Abstract

Highlights • Novel mt-tRNASer(UCN) (m.7486G>A) variant found in CPEO patient with 4,977 bp deletion. • The variant located in the anticodon loop meets the pathogenicity criteria. • Both genetic defects segregate with the biochemical phenotype in muscle. • Assembly impairment of MRC complexes was detected. • Mitochondrial translation defect and bioenergetic dysfunction were revealed., Chronic Progressive External Ophthalmoplegia (CPEO) is characterized by ptosis and ophthalmoplegia and is usually caused by mitochondrial DNA (mtDNA) deletions or mt-tRNA mutations. The aim of the present work was to clarify the genetic defect in a patient presenting with CPEO and elucidate the underlying pathogenic mechanism. This 62-year-old female first developed ptosis of the right eye at the age of 12 and subsequently the left eye at 45 years, and was found to have external ophthalmoplegia at the age of 55 years. Histopathological abnormalities were detected in the patient's muscle, including ragged-red fibres, a mosaic pattern of COX-deficient muscle fibres and combined deficiency of respiratory chain complexes I and IV. Genetic investigation revealed the “common deletion” in the patient's muscle and fibroblasts. Moreover, a novel, heteroplasmic mt-tRNASer(UCN) variant (m.7486G>A) in the anticodon loop was detected in muscle homogenate (50%), fibroblasts (11%) and blood (4%). Single-fibre analysis showed segregation with COX-deficient fibres for both genetic alterations. Assembly defects of mtDNA-encoded complexes were demonstrated in fibroblasts. Functional analyses showed significant bioenergetic dysfunction, reduction in respiration rate and ATP production and mitochondrial depolarization. Multilamellar bodies were detected by electron microscopy, suggesting disturbance in autophagy. In conclusion, we report a CPEO patient with two possible genetic origins, both segregating with biochemical and histochemical defect. The “common mtDNA deletion” is the most likely cause, yet the potential pathogenic effect of a novel mt-tRNASer(UCN) variant cannot be fully excluded.

Published
2018

32. Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study

Author

Lamberink, Herm J, primary, Otte, Willem M, additional, Blümcke, Ingmar, additional, Braun, Kees P J, additional, Aichholzer, Martin, additional, Amorim, Isabel, additional, Aparicio, Javier, additional, Aronica, Eleonora, additional, Arzimanoglou, Alexis, additional, Barba, Carmen, additional, Beck, Jürgen, additional, Becker, Albert, additional, Beckervordersandforth, Jan C, additional, Bien, Christian G, additional, Bodi, Istvan, additional, Braun, Kees PJ, additional, Catenoix, Helene, additional, Chassoux, Francine, additional, Chipaux, Mathilde, additional, Cloppenborg, Thomas, additional, Coras, Roland, additional, Cross, J Helen, additional, De Palma, Luca, additional, De Tisi, Jane, additional, Deleo, Francesco, additional, Devaux, Bertrand, additional, Di Gennaro, Giancarlo, additional, Dorfmüller, Georg, additional, Duncan, John S, additional, Elger, Christian, additional, Ernst, Katharina, additional, Esposito, Vincenzo, additional, Feucht, Martha, additional, Gadze, Zeljka Petelin, additional, Garbelli, Rita, additional, Geleijns, Karin, additional, Gil-Nagel, Antonio, additional, Grote, Alexander, additional, Grunwald, Thomas, additional, Guerrini, Renzo, additional, Hamer, Hajo, additional, Honavar, Mrinalini, additional, Jacques, Thomas S, additional, Jakovcevic, Antonia, additional, Jutila, Leena, additional, Kalina, Adam, additional, Kälviäinen, Reetta, additional, Klein, Karl Martin, additional, Koenig, Kristina, additional, Krsek, Pavel, additional, Kudernatsch, Manfred, additional, Kudr, Martin, additional, Lamberink, Herm J, additional, Malmgren, Kristina, additional, Marusic, Petr, additional, Melikyan, Armen, additional, Menzler, Katja, additional, Noachtar, Soheyl, additional, Özkara, Çiğdem, additional, Pieper, Tom, additional, Pimentel, Jose, additional, Raicevic, Savo, additional, Rheims, Sylvain, additional, Ribeiro, Joana, additional, Rosenow, Felix, additional, Rössler, Karl, additional, Rydenhag, Bertil, additional, Sales, Francisco, additional, San Antonio-Arce, Victoria, additional, Schaller, Karl Lothar, additional, Schijns, Olaf, additional, Scholl, Theresa, additional, Schramm, Johannes, additional, Schulze-Bonhage, Andreas, additional, Sciot, Raf, additional, Seeck, Margitta, additional, Shishkina, Lyudmila, additional, Sokic, Dragoslav, additional, Specchio, Nicola, additional, Theys, Tom, additional, Thom, Maria, additional, Delgado, Rafael Toledano, additional, Toulouse, Joseph, additional, Uzan, Mustafa, additional, van Loon, Johannes, additional, Van Paesschen, Wim, additional, von Oertzen, Tim J, additional, Jansen, Floor, additional, Leijten, Frans, additional, van Rijen, Peter, additional, Spliet, Wim GM, additional, Mühlebner, Angelika, additional, Kasper, Burkhard S, additional, Fauser, Susanne, additional, Polster, Tilman, additional, Kalbhenn, Thilo, additional, Delev, Daniel, additional, McEvoy, Andrew, additional, Miserocchi, Anna, additional, Landré, Elisabeth, additional, Turak, Bares, additional, Varlet, Pascale, additional, Ferrand-Sorbets, Sarah, additional, Fohlen, Martine, additional, Bulteau, Christine, additional, Edelvik, Anna, additional, Shah, Mukesch J, additional, Scheiwe, Christian, additional, Delicado, Eva Gutierrez, additional, Tisdall, Martin, additional, Eltze, Christin, additional, Akkol, Serdar, additional, Deniz, Kaancan, additional, Oz, Buge, additional, Holthausen, Hans, additional, Hartlieb, Till, additional, Staudt, Martin, additional, Casciato, Sara, additional, Quarato, Pier P, additional, Giangaspero, Felice, additional, Streichenberger, Nathalie, additional, Guenot, Marc, additional, Isnard, Jean, additional, Valentijn, Antonio, additional, Chang, Amanda, additional, Mullatti, Nandini, additional, Zamecnik, Josef, additional, Zarubova, Jana, additional, Tomasek, Martin, additional, Immonen, Arto, additional, Saarela, Anni, additional, Rauramaa, Tuomas, additional, Lobrinus, Johannes A, additional, Egervari, Kristof, additional, Momjian, Shahan, additional, Harti, Elisabeth, additional, Lohr, Hannah, additional, Kroell, Judith, additional, Vermeulen, Lynn, additional, Cleeren, Evy, additional, Vlasov, Pavel, additional, Kozlova, Antonia, additional, Vorobyev, Alexey, additional, Goeppel, Gudrun, additional, Samueli, Sharon, additional, Czech, Thomas, additional, Hainfellner, Johannes, additional, Puttinger, Gertraud, additional, Schwarz, Gabriele, additional, Stefanits, Harald, additional, Weis, Serge, additional, Spreafico, Roberto, additional, Villani, Flavio, additional, Rossini, Laura, additional, Hermsen, Anke, additional, Knake, Susanne, additional, Nimsky, Christopher, additional, Carl, Barbara, additional, Belohlavkova, Anezka, additional, Benova, Barbora, additional, Bisschop, Jeroen, additional, Colon, Albert, additional, van Kranen-Mastenbroek, Vivianne, additional, Rouhl, Rob PW, additional, Hoogland, Govert, additional, Rumiá, Jordi, additional, Ramírez-Camacho, Alia, additional, Candela-Cantó, Santiago, additional, Ostrowsky-Coste, Karine, additional, Panagiotakaki, Eleni, additional, Montavont, Alexandra, additional, Kosal, Pascale Keo, additional, Gokce-Samar, Zeynep, additional, Milleret, Clara, additional, Buccoliero, Anna M, additional, Giordano, Flavio, additional, Sulentic, Vlatko, additional, Mrak, Goran, additional, Desnica, Andrej, additional, CarfíPavia, Giusy, additional, De Benedictis, Alessandro, additional, Marras, Carlo E, additional, Bascarevic, Vladimir, additional, Vojvodic, Nikola, additional, Ristic, Aleksandar, additional, Rebelo, Olinda, additional, Aledo-Serrano, Angel, additional, Garcia-Morales, Irene, additional, and Anciones, Carla, additional

Published
2020
Full Text
View/download PDF

35. Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy

Author

Ribeiro, Joana, Rebelo, Olinda, Fernández-Marmiesse, Ana, and Negrão, Luís

Subjects
musculoskeletal diseases, Cardiomyopathy, Dilated, Male, Muscle Weakness, Electromyography, Mosaicism, High-Throughput Nucleotide Sequencing, Original Articles, Middle Aged, musculoskeletal system, body regions, Dystrophin, Upper Extremity, Codon, Nonsense, Humans, Muscle, Skeletal, Creatine Kinase
Abstract

A group of heterogeneous muscle diseases are caused by dystrophin gene (DMD) mutations. We hereby present a male patient with a diagnosis of symptomatic dilated cardiomyopathy at 44 years-old who developed, soon after, weakness of distal right upper limb. At the age of 58, neurological examination revealed severe atrophy of right thenar muscles, flexion contractures on the right elbow, wrist and fingers, bilateral calf hypertrophy, myotatic areflexia in the upper limbs and hyporeflexia in the lower limbs. Manual muscle examination showed distal weakness of right upper limb muscles, severe on abductor pollicis brevis and extensor pollicis longus, and milder on interossei, finger extensors and brachioradialis muscles. Further testing revealed CK of 1500 U/L, a myopathic pattern on electromyography, and myopathic changes on right deltoid muscle biopsy, with immunohistochemistry showing focal sub-expression of dystrophin. Cardiac workup revealed a severe reduction in left ventricular ejection fraction, with a left ventricle of increased dimensions and global hypo-contractibility. A next-generation sequencing based panel for muscular diseases was performed and a nonsense mutation (c.C7525T) was identified in exon 51 of DMD gene, present in 70% of the gene readings (consistent with mosaicism).

Published
2018

36. Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course

Author

Wefers, Annika K., primary, Stichel, Damian, additional, Schrimpf, Daniel, additional, Coras, Roland, additional, Pages, Mélanie, additional, Tauziède-Espariat, Arnault, additional, Varlet, Pascale, additional, Schwarz, Daniel, additional, Söylemezoglu, Figen, additional, Pohl, Ute, additional, Pimentel, José, additional, Meyer, Jochen, additional, Hewer, Ekkehard, additional, Japp, Anna, additional, Joshi, Abhijit, additional, Reuss, David E., additional, Reinhardt, Annekathrin, additional, Sievers, Philipp, additional, Casalini, M. Belén, additional, Ebrahimi, Azadeh, additional, Huang, Kristin, additional, Koelsche, Christian, additional, Low, Hu Liang, additional, Rebelo, Olinda, additional, Marnoto, Dina, additional, Becker, Albert J., additional, Staszewski, Ori, additional, Mittelbronn, Michel, additional, Hasselblatt, Martin, additional, Schittenhelm, Jens, additional, Cheesman, Edmund, additional, de Oliveira, Ricardo Santos, additional, Queiroz, Rosane Gomes P., additional, Valera, Elvis Terci, additional, Hans, Volkmar H., additional, Korshunov, Andrey, additional, Olar, Adriana, additional, Ligon, Keith L., additional, Pfister, Stefan M., additional, Jaunmuktane, Zane, additional, Brandner, Sebastian, additional, Tatevossian, Ruth G., additional, Ellison, David W., additional, Jacques, Thomas S., additional, Honavar, Mrinalini, additional, Aronica, Eleonora, additional, Thom, Maria, additional, Sahm, Felix, additional, von Deimling, Andreas, additional, Jones, David T. W., additional, Blumcke, Ingmar, additional, and Capper, David, additional

Published
2019
Full Text
View/download PDF

37. MiR-144 overexpression as a promising therapeutic strategy to overcome glioblastoma cell invasiveness and resistance to chemotherapy

Author

Cardoso, Ana M S, primary, Sousa, Madalena, additional, Morais, Catarina M, additional, Oancea-Castillo, Liliana R, additional, Régnier-Vigouroux, Anne, additional, Rebelo, Olinda, additional, Tão, Hermínio, additional, Barbosa, Marcos, additional, Pedroso, Maria C de Lima, additional, and Jurado, Amália S, additional

Published
2019
Full Text
View/download PDF

38. Primary spinal epidural lymphoma: a rare entity with an ambiguous management.

Author

Pinheiro, João Páscoa, Rato, Joana, Rebelo, Olinda, and Costa, Gonçalo

Abstract

Lymphomas are malignant lymphoid tumours arising from lymphocytic cells. They usually develop in the lymphoid tissues and can spread to other organs; however, primary extra-nodal locations such as the spinal epidural space are less common. The authors report the case of a primary diffuse large B-cell lymphoma of the thoracic spine in a 65-year- old man, who presented to the emergency department with signs of upper motor neuron lesion. The patient underwent surgery in order to decompress the spinal cord. The treatment was concluded with six cycles of chemotherapy with methotrexate, rituximab, cyclophosphamide, vincristine and prednisone followed by radiotherapy. At the 24-month follow-up, no signs of epidural lesion or bone contrast enhancement were observed in thoracic spine MRI. Surgical decompression is recommended in patients with signs of spinal cord injury in order to prevent irreversible neurological damage and is related to high rates of disease-free survival. [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

41. Prognostic stratification of adult primary glioblastoma multiforme patients based on their tumor gene amplification profiles

Author

González-Tablas, María, primary, Crespo, Inês, additional, Vital, Ana Luísa, additional, Otero, Álvaro, additional, Nieto, Ana Belén, additional, Sousa, Pablo, additional, Patino-Alonso, María Carmen, additional, Corchete, Luis Antonio, additional, Tão, Hermínio, additional, Rebelo, Olinda, additional, Barbosa, Marcos, additional, Almeida, Maria Rosário, additional, Guedes, Ana Filipa, additional, Lopes, María Celeste, additional, French, Pim J., additional, Orfao, Alberto, additional, and Tabernero, María Dolores, additional

Published
2018
Full Text
View/download PDF

44. The long non-coding RNAHOTAIRis transcriptionally activated by HOXA9 and is an independent prognostic marker in patients with malignant glioma

Author

Xavier-Magalhães, Ana, primary, Gonçalves, Céline S., additional, Fogli, Anne, additional, Lourenço, Tatiana, additional, Pojo, Marta, additional, Pereira, Bruno, additional, Rocha, Miguel, additional, Lopes, Maria Celeste, additional, Crespo, Inês, additional, Rebelo, Olinda, additional, Tão, Herminio, additional, Lima, João, additional, Moreira, Ricardo, additional, Pinto, Afonso A., additional, Jones, Chris, additional, Reis, Rui M., additional, Costello, Joseph F., additional, Arnaud, Philippe, additional, Sousa, Nuno, additional, and Costa, Bruno M., additional

Published
2018
Full Text
View/download PDF

46. Primary intramedullary spinal-cord lymphoma (PISCL): a rare entity with a challenging diagnosis.

Author

Santos Martins, Emanuel, Duque, Cristina, Rebelo, Olinda, and Batista, Sónia

Abstract

Primary intramedullary spinal-cord lymphoma (PISCL) is a rare cause of myelopathy and constitutes only 1% of central nervous system lymphomas. Delay to diagnosis is common due to its rarity, its similarity to other causes of myelopathy and the difficulties in obtaining pathological diagnosis. We report a case of PISCL and discuss the challenges faced on diagnosis, namely the impact of corticosteroids on histological findings, the usefulness of MRI, positron-emission tomography/CT (PET/CT) and repeated lumbar punctures. [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
View/download PDF

47. The Expression of Connexins and SOX2 Reflects the Plasticity of Glioma Stem-Like Cells

Author

Balça-Silva, Joana, primary, Matias, Diana, additional, Dubois, Luiz Gustavo, additional, Carneiro, Brenno, additional, do Carmo, Anália, additional, Girão, Henrique, additional, Ferreira, Fernanda, additional, Ferrer, Valeria Pereira, additional, Chimelli, Leila, additional, Filho, Paulo Niemeyer, additional, Tão, Hermínio, additional, Rebelo, Olinda, additional, Barbosa, Marcos, additional, Sarmento-Ribeiro, Ana Bela, additional, Lopes, Maria Celeste, additional, and Moura-Neto, Vivaldo, additional

Published
2017
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results