Rare Association of two Genetic Causes of Sudden Death in a Young Survivor

por Brito, Dulce, Magalhães, Andreia, Cortez-Dias, Nuno, Miltenberger-Miltenyi, Gabriel
Publicado 2017

Fabry Disease Therapy: State-of-the-Art and Current Challenges

por Azevedo, Olga, Gago, Miguel Fernandes, Miltenberger-Miltenyi, Gabriel, Sousa, Nuno, Cunha, Damião
Publicado 2020

Fabry Disease and the Heart: A Comprehensive Review

por Azevedo, Olga, Cordeiro, Filipa, Gago, Miguel Fernandes, Miltenberger-Miltenyi, Gabriel, Ferreira, Catarina, Sousa, Nuno, Cunha, Damião
Publicado 2021

Pathologic expansion in the C9orf72 gene is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis

por Miltenberger-Miltenyi, Gabriel, Conceição, Vasco A., Gromicho, Marta, Pronto-Laborinho, Ana Catarina, Pinto, Susana, de Carvalho, Mamede
Publicado 2021

Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson’s Disease

por López de Frutos, Laura, Almeida, Francisco, Murillo-Saich, Jessica, Conceição, Vasco A., Guma, Monica, Queheberger, Oswald, Giraldo, Pilar, Miltenberger-Miltenyi, Gabriel
Publicado 2022

Parkinson’s Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees

por Gago, Miguel Fernandes, Azevedo, Olga, Guimarães, Andreia, Teresa Vide, Ana, Lamas, Nuno J., Oliveira, Tiago Gil, Gaspar, Paulo, Bicho, Estela, Miltenberger-Miltenyi, Gabriel, Ferreira, Joaquim, Sousa, Nuno
Publicado 2020

Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation

por Azevedo, Olga, Gago, Miguel F., Miltenberger-Miltenyi, Gabriel, Robles, Ana Raquel, Costa, Maria Antónia, Pereira, Olga, Vide, Ana Teresa, Castelo Branco, Gonçalo, Simões, Sónia, Guimarães, Maria José, Salgado, Ana, Sousa, Nuno, Cunha, Damião
Publicado 2020

Gene Expression Differences in Peripheral Blood of Parkinson’s Disease Patients with Distinct Progression Profiles

por Pinho, Raquel, Guedes, Leonor C., Soreq, Lilach, Lobo, Patrícia P., Mestre, Tiago, Coelho, Miguel, Rosa, Mário M., Gonçalves, Nilza, Wales, Pauline, Mendes, Tiago, Gerhardt, Ellen, Fahlbusch, Christiane, Bonifati, Vincenzo, Bonin, Michael, Miltenberger-Miltényi, Gabriel, Borovecki, Fran, Soreq, Hermona, Ferreira, Joaquim J., F. Outeiro, Tiago
Publicado 2016

Correction: Gene Expression Differences in Peripheral Blood of Parkinson's Disease Patients with Distinct Progression Profiles

por Pinho, Raquel, Guedes, Leonor C., Soreq, Lilach, Lobo, Patrícia P., Mestre, Tiago, Coelho, Miguel, Rosa, Mário M., Gonçalves, Nilza, Wales, Pauline, Mendes, Tiago, Gerhardt, Ellen, Fahlbusch, Christiane, Bonifati, Vincenzo, Bonin, Michael, Miltenberger-Miltényi, Gabriel, Borovecki, Fran, Soreq, Hermona, Ferreira, Joaquim J., Outeiro, Tiago F.
Publicado 2017

A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

por van der Zee, Julie, Gijselinck, Ilse, Dillen, Lubina, Van Langenhove, Tim, Theuns, Jessie, Engelborghs, Sebastiaan, Philtjens, Stéphanie, Vandenbulcke, Mathieu, Sleegers, Kristel, Sieben, Anne, Bäumer, Veerle, Maes, Githa, Corsmit, Ellen, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Perneczky, Robert, Diehl-Schmid, Janine, de Mendonça, Alexandre, Miltenberger-Miltenyi, Gabriel, Pereira, Sónia, Pimentel, José, Nacmias, Benedetta, Bagnoli, Silvia, Sorbi, Sandro, Graff, Caroline, Chiang, Huei-Hsin, Westerlund, Marie, Sanchez-Valle, Raquel, Llado, Albert, Gelpi, Ellen, Santana, Isabel, Almeida, Maria Rosário, Santiago, Beatriz, Frisoni, Giovanni, Zanetti, Orazio, Bonvicini, Cristian, Synofzik, Matthis, Maetzler, Walter, vom Hagen, Jennifer Müller, Schöls, Ludger, Heneka, Michael T, Jessen, Frank, Matej, Radoslav, Parobkova, Eva, Kovacs, Gabor G, Ströbel, Thomas, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Danek, Adrian, Arzberger, Thomas, Fabrizi, Gian Maria, Testi, Silvia, Salmon, Eric, Santens, Patrick, Martin, Jean-Jacques, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Van Broeckhoven, Christine
Publicado 2013

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

por van der Zee, Julie, Van Langenhove, Tim, Kovacs, Gabor G., Dillen, Lubina, Deschamps, William, Engelborghs, Sebastiaan, Matěj, Radoslav, Vandenbulcke, Mathieu, Sieben, Anne, Dermaut, Bart, Smets, Katrien, Van Damme, Philip, Merlin, Céline, Laureys, Annelies, Van Den Broeck, Marleen, Mattheijssens, Maria, Peeters, Karin, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Hernández, Isabel, Boada, Mercè, Ruiz, Agustín, de Mendonça, Alexandre, Miltenberger-Miltényi, Gabriel, do Couto, Frederico Simões, Sorbi, Sandro, Nacmias, Benedetta, Bagnoli, Silvia, Graff, Caroline, Chiang, Huei-Hsin, Thonberg, Håkan, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Frisoni, Giovanni B., Bonvicini, Christian, Synofzik, Matthis, Maetzler, Walter, vom Hagen, Jennifer Müller, Schöls, Ludger, Haack, Tobias B., Strom, Tim M., Prokisch, Holger, Dols-Icardo, Oriol, Clarimón, Jordi, Lleó, Alberto, Santana, Isabel, Almeida, Maria Rosário, Santiago, Beatriz, Heneka, Michael T., Jessen, Frank, Ramirez, Alfredo, Sanchez-Valle, Raquel, Llado, Albert, Gelpi, Ellen, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Parobkova, Eva, Fabrizi, Gian Maria, Testi, Silvia, Salmon, Eric, Ströbel, Thomas, Santens, Patrick, Robberecht, Wim, De Jonghe, Peter, Martin, Jean-Jacques, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Sleegers, Kristel, Van Broeckhoven, Christine
Publicado 2014

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

por van der Zee, Julie, Gijselinck, Ilse, Van Mossevelde, Sara, Perrone, Federica, Dillen, Lubina, Heeman, Bavo, Bäumer, Veerle, Engelborghs, Sebastiaan, De Bleecker, Jan, Baets, Jonathan, Gelpi, Ellen, Rojas‐García, Ricardo, Clarimón, Jordi, Lleó, Alberto, Diehl‐Schmid, Janine, Alexopoulos, Panagiotis, Perneczky, Robert, Synofzik, Matthis, Just, Jennifer, Schöls, Ludger, Graff, Caroline, Thonberg, Håkan, Borroni, Barbara, Padovani, Alessandro, Jordanova, Albena, Sarafov, Stayko, Tournev, Ivailo, de Mendonça, Alexandre, Miltenberger‐Miltényi, Gabriel, Simões do Couto, Frederico, Ramirez, Alfredo, Jessen, Frank, Heneka, Michael T., Gómez‐Tortosa, Estrella, Danek, Adrian, Cras, Patrick, Vandenberghe, Rik, De Jonghe, Peter, De Deyn, Peter P., Sleegers, Kristel, Cruts, Marc, Van Broeckhoven, Christine, Goeman, Johan, Nuytten, Dirk, Smets, Katrien, Robberecht, Wim, Damme, Philip Van, Bleecker, Jan De, Santens, Patrick, Dermaut, Bart, Versijpt, Jan, Michotte, Alex, Ivanoiu, Adrian, Deryck, Olivier, Bergmans, Bruno, Delbeck, Jean, Bruyland, Marc, Willems, Christiana, Salmon, Eric, Pastor, Pau, Ortega‐Cubero, Sara, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Hernández, Isabel, Boada, Mercè, Ruiz, Agustín, Sorbi, Sandro, Nacmias, Benedetta, Bagnoli, Silvia, Sorbi, Sandro, Sanchez‐Valle, Raquel, Llado, Albert, Santana, Isabel, Rosário Almeida, Maria, Frisoni, Giovanni B, Maetzler, Walter, Matej, Radoslav, Fraidakis, Matthew J., Kovacs, Gabor G., Fabrizi, Gian Maria, Testi, Silvia
Publicado 2017