Browsing Universitätsbibliographie by Author "Graessner, Holm"

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Browsing Universitätsbibliographie by Author "Graessner, Holm"

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  • Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases
    Graessner, Holm; Reinhard, Carola; Baeumer, Tobias; Baumgaertner, Annette; Brockmann, Knut; Brueggemann, Norbert; Bueltmann, Eva; Erdmann, Jeanette; Heise, Kirstin; Hoeglinger, Guenter; Huening, Irina; Kaiser, Frank J.; Klein, Christine; Klopstock, Thomas; Kraegeloh-Mann, Ingeborg; Kraemer, Markus; Luedtke, Kerstin; Muecke, Martin; Musacchio, Thomas; Nadke, Andreas; Osmanovic, Alma; Ritter, Gabriele; Roese, Katharina; Schippers, Christopher; Schoels, Ludger; Schuele, Rebecca; Schulz, Jorg B.; Spross, Joachim; Stasch, Eveline; Wunderlich, Gilbert; Muenchau, Alexander (2024)
  • Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases
    Post, Annemarie E. M.; Klockgether, Thomas; Landwehrmeyer, G. Bernhard; Pandolfo, Massimo; Arnesen, Astri; Reinhard, Carola; Graessner, Holm (2021)
  • Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
    Demidov, German; Laurie, Steven; Torella, Annalaura; Piluso, Giulio; Scala, Marcello; Morleo, Manuela; Nigro, Vincenzo; Graessner, Holm; Banka, Siddharth; Lohmann, Katja; Ossowski, Stephan (2024)
  • Tailored antisense oligonucleotides for ultrarare CNS diseases: An experience-based best practice framework for individual patient evaluation
    Schule, Rebecca; Graessner, Holm; Aartsma-Rus, Annemieke; van Roon-Mom, Willeke M. C.; Synofzik, Matthis (2025)
  • The European Reference Network for Rare Neurological Diseases
    Reinhard, Carola; Bachoud-Levi, Anne-Catherine; Baeumer, Tobias; Bertini, Enrico; Brunelle, Alicia; Buizer, Annemieke I.; Federico, Antonio; Gasser, Thomas; Groeschel, Samuel; Hermanns, Sanja; Klockgether, Thomas; Kraegeloh-Mann, Ingeborg; Landwehrmeyer, G. Bernhard; Leber, Isabelle; Macaya, Alfons; Mariotti, Caterina; Meissner, Wassilios G.; Molnar, Maria Judit; Nonnekes, Jorik; Ortigoza Escobar, Juan Dario; Perez Duenas, Belen; Renna Linton, Lori; Schoels, Ludger; Schuele, Rebecca; Tijssen, Marina A. J.; Vandenberghe, Rik; Volkmer, Anna; Wolf, Nicole I.; Graessner, Holm (2021)
  • The organizational dimension in rare and complex diseases care management: an application of RarERN Path© methodology in ataxias, dystonia and phenylketonuria
    Cannizzo, Sara; Quoidbach, Vinciane; Trieste, Leopoldo; Benson, Monika; Federico, Antonio; Filla, Alessandro; Gilroy, Bernadette Sheehan; Giunti, Paola; Graessner, Holm; Greenfield, Julie; Hagedorn, Tobias; Hermida, Alvaro; Hunt, Barry; Macdonald, Anita; Morgante, Francesca; Oertel, Wolfgang; Pastores, Gregory; Pauly, Martje G.; Reinhard, Carola; Relja, Maja; Treacy, Eileen; Van Spronsen, Francjan; Vallortigara, Julie; Turchetti, Giuseppe (2025)
  • The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
    Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvo, Alberto; Fernandez-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martinez, Ines; Papakonstantinou, Anastasios; Pico-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayes, Monica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Alonso, Angel; Attimonelli, Marcella; Beroud, Christophe; Bros-Facer, Virginie; Buske, Orion J.; Canada-Pallares, Andres; Fernandez, Jose M.; Hansson, Mats G.; Horvath, Rita; Jacobsen, Julius O. B.; Kaliyaperumal, Rajaram; Lair-Preterre, Severine; Licata, Luana; Lopes, Pedro; Lopez-Martin, Estrella; Mascalzoni, Deborah; Monaco, Lucia; Perez-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 A. C.; Topf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G.; Lochmuller, Hanns; Beltran, Sergi (2022)
  • The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
    Yepez, Vicente A.; Demidov, German; Ellwanger, Kornelia; Laurie, Steven; Luknarova, Rebeka; Joseph Maran, Midhuna Immaculate; Hentrich, Thomas; Sagath, Lydia; van der Sanden, Bart; Astuti, Galuh; Neveling, Kornelia; Batlle-Maso, Laura; Beijer, Danique; Brechtmann, Felix; Caballero-Oteyza, Andres; Dabad, Marc; Denomme-Pichon, Anne-Sophie; Doornbos, Cenna; Eddafir, Zakaria; Estevez-Arias, Berta; Kilicarslan, Ozge Aksel; Kolen, Ingrid H. M.; Krass, Leon; Lohmann, Katja; Londhe, Shubhankar; Lopez-Martin, Estrella; Maassen, Kars; Macken, William; Martinez-Delgado, Beatriz; Mei, Davide; Mertes, Christian; Minardi, Raffaella; Morsy, Heba; Mueller, Juliane S.; Natera-de Benito, Daniel; Nelson, Isabelle; Oud, Machteld M.; Paramonov, Ida; Pico, Daniel; Piscia, Davide; Polavarapu, Kiran; Raineri, Emanuele; Savarese, Marco; Smal, Noor; Steehouwer, Marloes; Steyaert, Wouter; Swertz, Morris A.; Thomsen, Mirja; Topf, Ana; van de Vondel, Liedewei; van der Vries, Gerben; Vitobello, Antonio; Wilke, Carlo; Zurek, Birte; T' Hoen, Peter-Bram; Matalonga, Leslie; Vissers, Lisenka E. L. M.; Gilissen, Christian; Schulze-Hentrich, Julia; Beltran, Sergi; Esteve-Codina, Anna; Hoischen, Alexander; Gagneur, Julien; Graessner, Holm (2025)
  • The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap
    Jonker, Anneliene H.; Tataru, Elena-Alexandra; Graessner, Holm; Dimmock, David; Jaffe, Adam; Baynam, Gareth; Davies, James; Mitkus, Shruti; Iliach, Oxana; Horgan, Rich; Augustine, Erika F.; Bateman-House, Alison; Pasmooij, Anna Maria Gerdina; Yu, Tim; Synofzik, Matthis; Douville, Julie; Lapteva, Larissa; Brooks, Philip John; O'Connor, Daniel; Aartsma-Rus, Annemieke (2025)
  • Versorgernetzwerke für Menschen mit Seltenen Erkrankungen: Daten und Expertise bündeln
    Graessner, Holm; Storf, Holger; Schaefer, Franz (2022)