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

Volltext

Fabry disease and the heart: a comprehensive review von Azevedo, Olga, Cordeiro, Filipa, Gago, Miguel Fernandes, Miltenberger-Miltenyi, Gabriel, Ferreira, Catarina, Sousa, Nuno, Cunha, Damião José Gaspar Lourenço

Volltext

Impaired proteostasis contributes to renal tubular dysgenesis von de Oliveira, Rita Machado, Marijanovic, Zrinka, Carvalho, Filipe, Miltényi, Gabriel Miltenberger, Matos, Joana Estevão, Tenreiro, Sandra, Oliveira, Sónia, Enguita, Francisco Javier, Stone, Rosário, Outeiro, Tiago Fleming

Volltext

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia von Philtjens, Stéphanie, Van Mossevelde, Sara, van der Zee, Julie, Wauters, Eline, Dillen, Lubina, Vandenbulcke, Mathieu, Vandenberghe, Rik, Ivanoiu, Adrian, Sieben, Anne, Willems, Christiana, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Borroni, Barbara, Padovani, Alessandro, Pastor, Pau, Diez-Fairen, Monica, Aguilar, Miquel, de Mendonça, Alexandre, Miltenberger-Miltényi, Gabriel, Hernández, Isabel, Boada, Merce, Ruiz, Agustín, Nacmias, Benedetta, Sorbi, Sandro, Almeida, Maria Rosário, Santana, Isabel, Clarimón, Jordi, Lleó, Alberto, Frisoni, Giovanni B., Sanchez-Valle, Raquel, Lladó, Albert, Gómez-Tortosa, Estrella, Gelpi, Ellen, Van den Broeck, Marleen, Peeters, Karin, Cras, Patrick, De Deyn, Peter P., Engelborghs, Sebastiaan, Cruts, Marc, Van Broeckhoven, Christine

Volltext

Sphingolipid and Phospholipid Levels Are Altered in Human Brain in Chorea‐Acanthocytosis von Miltenberger‐Miltenyi, Gabriel, Jones, Attila, Tetlow, Amber M., Conceição, Vasco A., Crary, John F., Ditzel, Ricky Michael, Farrell, Kurt, Nandakumar, Renu, Barton, Brandon, Karp, Barbara I., Kirby, Alana, Lett, Debra J., Mente, Karin, Morgello, Susan, Simon, David K., Walker, Ruth H.

Volltext

An Autopsy Series of Seven Cases of VPS13A Disease (Chorea‐Acanthocytosis) von Ditzel, Ricky M., Walker, Ruth H., Nirenberg, Melissa J., Tetlow, Amber M., Farrell, Kurt, Lind‐Watson, Kourtni J., Thorn, Emma L., Dangoor, Diana K., Gordon, Ronald, De Sanctis, Claudia, Barton, Brandon, Karp, Barbara I., Kirby, Alana, Lett, Debra J., Mente, Karin, Simon, David K., Velayos‐Baeza, Antonio, Miltenberger‐Miltenyi, Gabriel, Humphrey, Jack, Crary, John F.

Volltext

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

Volltext

Fabry Disease Therapy: State-of-the-Art and Current Challenges von Azevedo, Olga, Gago, Miguel Fernandes, Miltenberger-Miltenyi, Gabriel, Sousa, Nuno, Cunha, Damião

Volltext

Interaction between VPS13A and the XK scramblase is important for VPS13A function in humans von Park, Jae-Sook, Hu, Yiying, Hollingsworth, Nancy M., Miltenberger-Miltenyi, Gabriel, Neiman, Aaron M.

Volltext

Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation—Case report and review of literature von Madruga Dias, João A.C., MD, Rosa, Rita S., MD, Perpétuo, Inês, MSc, Rodrigues, Ana M., MD, Janeiro, André, MSc, Costa, Maria M., MD, Gaião, Luís, MD, Pereira da Silva, José A., MD, Fonseca, João E., PhD, Miltenberger-Miltenyi, Gabriel, PhD

Volltext

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis von der Zee, Julie, Gijselinck, Ilse, Mossevelde, Sara, Perrone, Federica, Dillen, Lubina, Heeman, Bavo, Bäumer, Veerle, Engelborghs, Sebastiaan, 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, 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, Jonghe, Peter, Deyn, Peter P., Sleegers, Kristel, Cruts, Marc, 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

Volltext

Cognitive reserve and TMEM106B genotype modulate brain damage in presymptomatic frontotemporal dementia: a GENFI study von Premi, Enrico, Grassi, Mario, van Swieten, John, Galimberti, Daniela, Graff, Caroline, Masellis, Mario, Tartaglia, Carmela, Tagliavini, Fabrizio, Rowe, James B, Laforce, Jr, Robert, Finger, Elizabeth, Frisoni, Giovanni B, de Mendonça, Alexandre, Sorbi, Sandro, Gazzina, Stefano, Cosseddu, Maura, Archetti, Silvana, Gasparotti, Roberto, Manes, Marta, Alberici, Antonella, Cardoso, Manuel J, Bocchetta, Martina, Cash, David M, Ourselin, Sebastian, Padovani, Alessandro, Rohrer, Jonathan D, Borroni, Barbara

Volltext

Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson's Disease von López de Frutos, Laura, Almeida, Francisco, Murillo-Saich, Jessica, Conceição, Vasco A, Guma, Monica, Queheberger, Oswald, Giraldo, Pilar, Miltenberger-Miltenyi, Gabriel

Volltext

Pathologic expansion in the C9orf72 gene is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis von Miltenberger-Miltenyi, Gabriel, Conceição, Vasco A., Gromicho, Marta, Pronto-Laborinho, Ana Catarina, Pinto, Susana, de Carvalho, Mamede

Volltext

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients von Baradaran-Heravi, Yalda, Dillen, Lubina, Nguyen, Hung Phuoc, Van Mossevelde, Sara, Baets, Jonathan, De Jonghe, Peter, Engelborghs, Sebastiaan, De Deyn, Peter P., Vandenbulcke, Mathieu, Vandenberghe, Rik, Van Damme, Philip, Cras, Patrick, Salmon, Eric, Synofzik, Matthis, Heutink, Peter, Wilke, Carlo, Simon-Sanchez, Javier, Rojas-Garcia, Ricard, Turon-Sans, Janina, Lleó, Alberto, Illán-Gala, Ignacio, Clarimón, Jordi, Borroni, Barbara, Padovani, Alessandro, Pastor, Pau, Diez-Fairen, Monica, Aguilar, Miquel, Gelpi, Ellen, Sanchez-Valle, Raquel, Borrego-Ecija, Sergi, Matej, Radoslav, Parobkova, Eva, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, de Mendonça, Alexandre, Ferreira, Catarina, Fraidakis, Matthew J., Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Almeida, Maria Rosário, Santana, Isabel, Van Broeckhoven, Christine, van der Zee, Julie, Goeman, Johan, Nuytten, Dirk, Sieben, Anne, De Bleecker, Jan L., Santens, Patrick, Versijpt, Jan, Michotte, Alex, Ivanoiu, Adrian, Deryck, Olivier, Bergmans, Bruno, Willems, Christiana, De Klippel, Nina, Peeters, Dirk, Archettim, Silvana, Bonomi, Elisa, Piaceri, Irene, Ferrari, Camilla, Simões do Couto, Frederico, Verdelho, Ana, Miltenberger-Miltényi, Gabriel

Volltext

Cardiac Anderson-Fabry disease: Lessons from a 25-year-follow up von Brito, Dulce, Miltenberger–Miltenyi, Gabriel, Moldovan, Oana, Navarro, Carmen, Madeira, Hugo Costa

Volltext

Left ventricular noncompaction associated with a pathogenic mutation in the MYH7 gene: Known mutation, different phenotype von Oliveira, Margarida, Azevedo, Olga, Faria, Bebiana, von Hafe, Pedro, Dias, Geraldo, Faria, Ricardo, Sanfins, Victor, Lourenço, Mário, Miltenberger-Miltenyi, Gabriel, Lourenço, António

Volltext

Chorea‐acanthocytosis presenting as motor neuron disease von Neutel, Dulce, Miltenberger‐Miltenyi, Gabriel, Silva, Ines, de Carvalho, Mamede

Volltext

Mutations and polymorphisms in the human methyl CpG‐binding protein MECP2 von Miltenberger‐Miltenyi, Gabriel, Laccone, Franco

Volltext

Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson’s disease von Miltenberger-Miltenyi, Gabriel, Ortega, Roberto A., Domingo, Aloysius, Yadav, Rachita, Nishiyama, Ayumi, Raymond, Deborah, Katsnelson, Viktoriya, Urval, Nikita, Swan, Matthew, Shanker, Vicki, Miravite, Joan, Walker, Ruth H., Bressman, Susan B., Ozelius, Laurie J., Cabassa, José C., Saunders-Pullman, Rachel

Volltext