PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice von 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

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Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients von 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, Pareyson, Davide, Taroni, Franco, Di Bella, Daniela, Salsano, Ettore

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Adult-Onset Krabbe Disease: The Importance of a Systematic Approach to Brain MRI Findings von Durães, João, Salsano, Ettore, Macário, Maria do Carmo

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Posttranslational modifications of proteins are key features in the identification of CSF biomarkers of multiple sclerosis von Salazar, Ivan L, Lourenço, Ana S T, Manadas, Bruno, Baldeiras, Inês, Ferreira, Cláudia, Teixeira, Anabela Claro, Mendes, Vera M, Novo, Ana Margarida, Machado, Rita, Batista, Sónia, Macário, Maria do Carmo, Grãos, Mário, Sousa, Lívia, Saraiva, Maria João, Pais, Alberto A C C, Duarte, Carlos B

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Generation and Characterization of Novel iPSC Lines from a Portuguese Family Bearing Heterozygous and Homozygous GRN Mutations von 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

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Neuromyelitis optica in Portugal (NEMIPORT) – A multicentre study von Domingos, Joana, Isidoro, Luís, Figueiredo, Rita, Brum, Marisa, Capela, Carlos, Barros, Pedro, Santos, Ernestina, Macário, Maria do Carmo, Pinto Marques, José, Pedrosa, Rui, Vale, José, Sá, Maria José

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Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency von 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

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TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients von Foddis, Marco, Blumenau, Sonja, Holtgrewe, Manuel, Paquette, Kimberly, Westra, Kaitlyn, Alonso, Isabel, Macario, Maria do Carmo, Morgadinho, Ana Sofia, Velon, Ana Graça, Santo, Gustavo, Santana, Isabel, Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Pöyhönen, Minna, Myllykangas, Liisa, Pavlovic, Aleksandra, Kostic, Vladimir, Dobricic, Valerija, Lohmann, Ebba, Hanagasi, Hasmet, Santos, Mariana, Guven, Gamze, Bilgic, Basar, Bras, Jose, Beule, Dieter, Dirnagl, Ulrich, Guerreiro, Rita, Sassi, Celeste

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GenEye24: Novel rapid screening test for the top-3 Leber’s Hereditary Optic Neuropathy pathogenic sequence variants von Martins, Sara, Santos, Maria João, Teixeira, Márcia, Diogo, Luísa, do Carmo Macário, Maria, Marques, João Pedro, Fonseca, Pedro, Grazina, Manuela

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Generation and Characterization of Novel iPSC Lines from a Portuguese Family Bearing Heterozygous and Homozygous IGRN/I Mutations von Oliveira, Ana Rafaela, Ma, Cammarata, Giuseppe, Ma, Cardoso, Ana Maria, Almeida, Maria Rosário, do Carmo Macário, Maria, Santana, Isabel, Peça, João, Cardoso, Ana Luísa

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PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice von 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

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CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population von Ferreira, Filipa, Leal, Inês, Sousa, David, Costa, Teresa, Mota, Conceição, Gomes, Ana Marta, Lopes, Daniela, Carmo Macário, Maria do, Tavares, Isabel, Pinto, Helena, Oliveira, João Paulo, Magriço, Rita, Carmona, Célia, Ramos, Sónia, Neiva, Raquel, Marcão, Ana, Vilarinho, Laura

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Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey von Neugebauer, Julia, Reinson, Karit, Bellusci, Marcello, Park, Julien H, Hikmat, Omar, Bertini, Enrico, Schiff, Manuel, Rahman, Shamima

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Adult-Onset Krabbe Disease: The Importance of a Systematic Approach to Brain MRI Findings von Durães, João, Salsano, Ettore, Macário, Maria do Carmo

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Additional file 6 of Posttranslational modifications of proteins are key features in the identification of CSF biomarkers of multiple sclerosis von Salazar, Ivan L., Lourenço, Ana S. T., Manadas, Bruno, Baldeiras, Inês, Ferreira, Cláudia, Teixeira, Anabela Claro, Mendes, Vera M., Novo, Ana Margarida, Machado, Rita, Batista, Sónia, Macário, Maria do Carmo, Grãos, Mário, Sousa, Lívia, Saraiva, Maria João, Pais, Alberto A. C. C., Duarte, Carlos B.

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Additional file 4 of Posttranslational modifications of proteins are key features in the identification of CSF biomarkers of multiple sclerosis von Salazar, Ivan L., Lourenço, Ana S. T., Manadas, Bruno, Baldeiras, Inês, Ferreira, Cláudia, Teixeira, Anabela Claro, Mendes, Vera M., Novo, Ana Margarida, Machado, Rita, Batista, Sónia, Macário, Maria do Carmo, Grãos, Mário, Sousa, Lívia, Saraiva, Maria João, Pais, Alberto A. C. C., Duarte, Carlos B.

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Additional file 2 of Posttranslational modifications of proteins are key features in the identification of CSF biomarkers of multiple sclerosis von Salazar, Ivan L., Lourenço, Ana S. T., Manadas, Bruno, Baldeiras, Inês, Ferreira, Cláudia, Teixeira, Anabela Claro, Mendes, Vera M., Novo, Ana Margarida, Machado, Rita, Batista, Sónia, Macário, Maria do Carmo, Grãos, Mário, Sousa, Lívia, Saraiva, Maria João, Pais, Alberto A. C. C., Duarte, Carlos B.

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Additional file 1 of Posttranslational modifications of proteins are key features in the identification of CSF biomarkers of multiple sclerosis von Salazar, Ivan L., Lourenço, Ana S. T., Manadas, Bruno, Baldeiras, Inês, Ferreira, Cláudia, Teixeira, Anabela Claro, Mendes, Vera M., Novo, Ana Margarida, Machado, Rita, Batista, Sónia, Macário, Maria do Carmo, Grãos, Mário, Sousa, Lívia, Saraiva, Maria João, Pais, Alberto A. C. C., Duarte, Carlos B.

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Additional file 5 of Posttranslational modifications of proteins are key features in the identification of CSF biomarkers of multiple sclerosis von Salazar, Ivan L., Lourenço, Ana S. T., Manadas, Bruno, Baldeiras, Inês, Ferreira, Cláudia, Teixeira, Anabela Claro, Mendes, Vera M., Novo, Ana Margarida, Machado, Rita, Batista, Sónia, Macário, Maria do Carmo, Grãos, Mário, Sousa, Lívia, Saraiva, Maria João, Pais, Alberto A. C. C., Duarte, Carlos B.

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Additional file 3 of Posttranslational modifications of proteins are key features in the identification of CSF biomarkers of multiple sclerosis von Salazar, Ivan L., Lourenço, Ana S. T., Manadas, Bruno, Baldeiras, Inês, Ferreira, Cláudia, Teixeira, Anabela Claro, Mendes, Vera M., Novo, Ana Margarida, Machado, Rita, Batista, Sónia, Macário, Maria do Carmo, Grãos, Mário, Sousa, Lívia, Saraiva, Maria João, Pais, Alberto A. C. C., Duarte, Carlos B.

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