Woodhouse–Sakati Syndrome: First report of a Portuguese case von Louro, Pedro, Durães, João, Oliveira, Diana, Paiva, Sandra, Ramos, Lina, Macário, Maria Carmo

Volltext

Adult-onset methylenetetrahydrofolate reductase deficiency von Vieira, Daniela, Florindo, Cristina, Tavares de Almeida, Isabel, Macário, Maria Carmo

Volltext

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

Volltext

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

Volltext

Sequential and combined central retinal artery occlusion and anterior ischemic optic neuropathy in Fabry’s disease von Sobral-Pinho, André, Jorge, André, Fonseca, Pedro, Sargento-Freitas, João, Durães, João, Martins, Ana Inês, Macário, Maria Carmo, Lemos, João

Volltext

Demyelinating disease of the central nervous system associated with Pembrolizumab treatment for metastatic melanoma von Durães, João, Coutinho, Inês, Mariano, Angelina, Geraldo, Argemiro, Macário, Maria Carmo

Volltext

Positional Ocular Flutter Associated With Middle Cerebellar Peduncle Demyelination von Martins, Ana Inês, Nunes, César, Macário, Maria Carmo, Lemos, João

Volltext

Hypocomplementemic urticarial vasculitis and multiple Sclerosis: A rare association or an atypical presentation? von Durães, João, Gonçalo, Margarida, Sousa, Lívia, Macário, Maria Carmo

Volltext

In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes von Bacalhau, Mafalda, Pratas, João, Simões, Marta, Mendes, Cândida, Ribeiro, Carolina, Santos, Maria J, Diogo, Luísa, Macário, Maria Carmo, Grazina, Manuela

Volltext

Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation von Tomás, José, Durães, João, Lacerda, Lúcia, Macário, Maria Carmo

Volltext

Response to “In silico prediction is insufficient to assess pathogenicity of mtDNA variants” von Bacalhau, Mafalda, Pratas, João, Simões, Marta, Mendes, Cândida, Ribeiro, Carolina, Santos, Maria J., Diogo, Luisa, Macário, Maria Carmo, Grazina, Manuela

Volltext

Severe post-influenza (H1N1) encephalitis involving pulvinar nuclei in an adult patient von Tomás, José, Macário, Maria Carmo, Gaspar, Elsa, Santana, Isabel

Volltext

Late-onset multiple acyl-CoA dehydrogenase deficiency with a complex genetic finding (P4.6-066) von Durães, João, Macário, Maria Carmo

Volltext

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

Volltext

Evaluation of Treatment With Cysteamine Eyedrops for Cystinosis With Confocal Microscopy von Tavares, Rui, Coelho, Dalila, Macário, Maria Carmo, Torres, Alexandra, Quadrado, Maria João, Murta, Joaquim

Volltext

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

Volltext

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

Volltext

Neurodegeneration and muscular involvement in intermediate autosomal recessive CLCN7-related Osteopetrosis: an atypical presentation (P1.6-049) von Durães, João, Marques, Patrícia, Duro, Diana, Sousa, Sérgio Bernardo, Macário, Maria Carmo

Volltext

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

Volltext

Positional Ocular Flutter Associated With Middle Cerebellar Peduncle Demyelination von Martins, Ana Inês, Nunes, César, Macário, Maria Carmo, Lemos, João

Volltext