A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome
Balreira, Andrea, Gaspar, Paulo, Caiola, Daniel, Chaves, João, Beirão, Idalina, Lima, José Lopes, Azevedo, Jorge Eduardo, Miranda, Maria Clara Sá
Published in Human molecular genetics (15.07.2008)
Published in Human molecular genetics (15.07.2008)
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Sphingolipid signalling mediates mitochondrial dysfunctions and reduced chronological lifespan in the yeast model of Niemann‐Pick type C1
Vilaça, Rita, Silva, Elísio, Nadais, André, Teixeira, Vítor, Matmati, Nabil, Gaifem, Joana, Hannun, Yusuf A., Sá Miranda, Maria Clara, Costa, Vítor
Published in Molecular microbiology (01.02.2014)
Published in Molecular microbiology (01.02.2014)
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Anomalies in conventional T and invariant natural killer T‐cell populations in Fabry mice but not in Fabry patients
Balreira, Andrea, Macedo, Maria F., Girão, Cristina, Rodrigues, Lorena G., Oliveira, João P., Sá Miranda, Maria Clara, Arosa, Fernando A.
Published in British journal of haematology (01.11.2008)
Published in British journal of haematology (01.11.2008)
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Reduced glucosylceramide in the mouse model of Fabry disease: Correction by successful enzyme replacement therapy
Quinta, Rui, Rodrigues, Daniel, Assunção, Marisa, Macedo, Maria Fatima, Azevedo, Olga, Cunha, Damião, Oliveira, Pedro, Sá Miranda, Maria Clara
Published in Gene (15.02.2014)
Published in Gene (15.02.2014)
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Screening of high-risk Gaucher disease patients using dried blood spots techniques
Vairo, Filippo, Netto, Cristina, Tirelli, Kristiane Michelin, Siebert, Marina, Burin, Maira, Saraiva-Pereira, Maria Luiza, Balreira, Andrea, Sá Miranda, Maria Clara, Lukacs, Zoltan, Schwartz, Ida Vanessa D.
Published in Gene (01.07.2013)
Published in Gene (01.07.2013)
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Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis
Teixeira, Carla A., Espinola, Janice, Huo, Liang, Kohlschütter, Johannes, Persaud Sawin, Dixie-Ann, Minassian, Berge, Bessa, Carlos J. P., Guimarães, A., Stephan, Dietrich A., Sá Miranda, Maria Clara, MacDonald, Marcy E., Ribeiro, Maria Gil, Boustany, Rose-Mary N.
Published in Human mutation (01.05.2003)
Published in Human mutation (01.05.2003)
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Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population
TEIXEIRA, Carla, GUIMARAES, Antonio, BESSA, Carlos, FERREIRA, Maria José, LOPES, Lurdes, PINTO, Eugénia, PINTO, Rui, BOUSTANY, Rose-Mary, SA MIRANDA, Maria Clara, RIBEIRO, Maria Gil
Published in Journal of neurology (01.06.2003)
Published in Journal of neurology (01.06.2003)
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Gaucher disease in Tunisia: High frequency of the most common mutations
Cherif, Wafa, Ben Turkia, Hadhami, Ben Rhouma, Faten, Riahi, Imene, Chemli, Jalel, Kefi, Rym, Messai, Habib, Amaral, Olga, Miranda, Maria Clara Sá, Caillaud, Catherine, Tebib, Neji, Ben Dridi, Marie Françoise, Abdelhak, Sonia
Published in Blood cells, molecules, & diseases (01.09.2009)
Published in Blood cells, molecules, & diseases (01.09.2009)
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Sphingolipid signalling mediates mitochondrial dysfunctions and reduced chronological lifespan in the yeast model of N iemann‐ P ick type C 1
Vilaça, Rita, Silva, Elísio, Nadais, André, Teixeira, Vítor, Matmati, Nabil, Gaifem, Joana, Hannun, Yusuf A., Sá Miranda, Maria Clara, Costa, Vítor
Published in Molecular microbiology (01.02.2014)
Published in Molecular microbiology (01.02.2014)
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Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease
Hollak, Carla E.M., vom Dahl, Stephan, Aerts, Johannes M.F.G., Belmatoug, Nadia, Bembi, Bruno, Cohen, Yossi, Collin-Histed, Tanya, Deegan, Patrick, van Dussen, Laura, Giraldo, Pilar, Mengel, Eugen, Michelakakis, Helen, Manuel, Jeremy, Hrebicek, Martin, Parini, Rosella, Reinke, Jörg, di Rocco, Maja, Pocovi, Miguel, Sa Miranda, Maria Clara, Tylki-Szymanska, Anna, Zimran, Ari, Cox, Timothy M.
Published in Blood cells, molecules, & diseases (15.01.2010)
Published in Blood cells, molecules, & diseases (15.01.2010)
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Evolução fenotípica na adrenoleucodistrofia
Paula Mendes, Isabel Meneses, Luis Monteiro, Teresa Coelho, Cristiana Vasconcelos, Manuela Lemos, Rita Ferreira, Maria Clara Sá Miranda
Published in Acta médica portuguesa (01.08.2003)
Published in Acta médica portuguesa (01.08.2003)
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Phenotypic evolution in adrenoleukodystrophy
Mendes, Paula, Meneses, Isabel, Monteiro, Luis, Coelho, Teresa, Vasconcelos, Cristiana, Lemos, Manuela, Ferreira, Rita, Sá Miranda, Maria Clara
Published in Acta medica portuguesa (01.07.2003)
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Published in Acta medica portuguesa (01.07.2003)
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