First German Academy for Further Medical Training on Rare Diseases (<it>FAKSE</it>, <url>http://www.fakse.info</url>)

by Giehl Julia, Graessner Holm, Riess Olaf
Published 2012-11-01

Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients

by Tsai Yu-Chun, Metzger Silke, Riess Olaf, Soehn Anne S, Nguyen Huu
Published 2012-06-01

Localization of sequence variations in PGC-1α influence their modifying effect in Huntington disease

by Deyle Carolin, Portal Esteban, Metzger Silke, Che Hong Van B, Riess Olaf, Nguyen Huu
Published 2011-01-01

A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients

by Riess Olaf, Schoenfisch Birgitt, Schaeferhoff Karin, Haebig Karina, Poths Sven, Walter Michael, Barresi Gianmaria, Rall Katharina, Wallwiener Diethelm, Bonin Michael, Brucker Sara
Published 2011-05-01

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

by Boycott, Kym M, Hartley, Taila, Biesecker, Leslie G, Gibbs, Richard A, Innes, A Micheil, Riess, Olaf, Belmont, John, Dunwoodie, Sally L, Jojic, Nebojsa, Lassmann, Timo, Mackay, Deborah, Temple, I Karen, Visel, Axel, Baynam, Gareth
Published 2019

Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.

by Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J, Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Published 2021

Reconstructing Roma history from genome-wide data.

by Moorjani, Priya, Patterson, Nick, Loh, Po-Ru, Lipson, Mark, Kisfali, Péter, Melegh, Bela I, Bonin, Michael, Kádaši, Ludevít, Rieß, Olaf, Berger, Bonnie, Reich, David, Melegh, Béla
Published 2013

Motor Function and Dopamine Release Measurements in Transgenic Huntington’s Disease Model Rats

by Oritz, Andrea N., Osterhaus, Gregory L., Lauderdale, Kelli, Mahoney, Luke, Fowler, Stephen C., von Hörsten, Stephan, Riess, Olaf, Johnson, Michael A.
Published 2012

Dysregulation of coordinated neuronal firing patterns in striatum of freely behaving transgenic rats that model Huntington’s disease

by Miller, Benjamin R., Walker, Adam G., Fowler, Stephen C., von Hörsten, Stephan, Riess, Olaf, Johnson, Michael A., Rebec, George V.
Published 2010

Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3.

by Menzies, Fiona M, Huebener, Jeannette, Renna, Maurizio, Bonin, Michael, Riess, Olaf, Rubinsztein, David C
Published 2014

Reconstructing Roma History from Genome-Wide Data

by Moorjani, Priya, Patterson, Nick, Loh, Po-Ru, Lipson, Mark, Kisfali, Péter, Melegh, Bela I., Bonin, Michael, Kádaši, Ľudevít, Rieß, Olaf, Berger, Bonnie, Reich, David Emil, Melegh, Béla
Published 2013

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

by Zurek, Birte, Ellwanger, Kornelia, Vissers, Lisenka ELM, Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, de Voer, Richarda M, Laurie, Steven, Matalonga, Leslie, Gilissen, Christian, Ossowski, Stephan, 't Hoen, Peter AC, Vitobello, Antonio, Schulze-Hentrich, Julia M, Riess, Olaf, Brunner, Han G, Brookes, Anthony J, Rath, Ana, Bonne, Gisèle, Gumus, Gulcin, Verloes, Alain, Hoogerbrugge, Nicoline, Evangelista, Teresinha, Harmuth, Tina, Swertz, Morris, Spalding, Dylan, Hoischen, Alexander, Beltran, Sergi, Graessner, Holm, Solve-RD consortium
Published 2021

Reconstructing Roma History from Genome-Wide Data

by Moorjani, Priya, Patterson, Nick, Loh, Po-Ru, Lipson, Mark, Kisfali, Péter, Melegh, Bela I., Bonin, Michael, Kádaši, Ľudevít, Rieß, Olaf, Berger, Bonnie, Reich, David, Melegh, Béla
Published 2013

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

by Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Published 2021

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

by Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Published 2021

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

by Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Published 2021

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.

by Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Corvó, Alberto, Fernández-Callejo, Marcos, Garcia-Linares, Carles, Hernandez-Ferrer, Carles, Luengo, Cristina, Martínez, Inés, Papakonstantinou, Anastasios, Picó-Amador, Daniel, Protasio, Joan, Thompson, Rachel, Tonda, Raul, Bayés, Mònica, Bullich, Gemma, Camps-Puchadas, Jordi, Paramonov, Ida, Trotta, Jean-Rémi, Alonso, Angel, Attimonelli, Marcella, Béroud, Christophe, Bros-Facer, Virginie, Buske, Orion J, Cañada-Pallarés, Andrés, Fernández, José M, Hansson, Mats G, Horvath, Rita, Jacobsen, Julius OB, Kaliyaperumal, Rajaram, Lair-Préterre, Séverine, Licata, Luana, Lopes, Pedro, López-Martín, Estrella, Mascalzoni, Deborah, Monaco, Lucia, Pérez-Jurado, Luis A, Posada de la Paz, Manuel, Rambla, Jordi, Rath, Ana, Riess, Olaf, Robinson, Peter N, Salgado, David, Smedley, Damian, Spalding, Dylan, 't Hoen, Peter AC, Töpf, Ana, Zaharieva, Irina, Graessner, Holm, Gut, Ivo G, Lochmüller, Hanns, Beltran, Sergi
Published 2022

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

by Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Rheinard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Published 2020

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

by Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Published 2021