نتائج البحث - Holm Graessner

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  1. 1
    Rare disease care pathways in the EU: from odysseys and labyrinths towards highways

    Rare disease care pathways in the EU: from odysseys and labyrinths towards highways حسب Birutė Tumienė, Holm Graeßner

    منشور في 2021
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    Artigo
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  2. 2
    Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives

    Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives حسب Matthis Synofzik, Willeke M. C. van Roon‐Mom, Georg Marckmann, Hermine A. van Duyvenvoorde, Holm Graeßner, Rebecca Schüle, Annemieke Aartsma‐Rus

    منشور في 2021
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    Artigo
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  3. 3
    European Reference Networks: challenges and opportunities

    European Reference Networks: challenges and opportunities حسب Birutė Tumienė, Holm Graeßner, Irene M.J. Mathijssen, Alberto M. Pereira, Franz Schaefer, Maurizio Scarpa, Jean‐Yves Blay, Hélène Dollfus, Nicoline Hoogerbrugge

    منشور في 2021
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    Artigo
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  4. 4
    RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

    RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases حسب Hanns Lochmüller, Dorota M. Badowska, Rachel Thompson, Nine Knoers, Annemieke Aartsma‐Rus, Marta Gut, Libby Wood, Tina Harmuth, Andre Durudas, Holm Graeßner, Franz Schaefer, Olaf Rieß

    منشور في 2018
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    Artigo
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  5. 5
    Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations

    Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations حسب Annemieke Aartsma‐Rus, Willeke M. C. van Roon‐Mom, Marlen C. Lauffer, Christine L. E. Siezen, Britt Duijndam, Tineke Coenen-de Roo, Rebecca Schüle, Matthis Synofzik, Holm Graeßner

    منشور في 2023
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    Artigo
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  6. 6
    Rare disease education in Europe and beyond: time to act

    Rare disease education in Europe and beyond: time to act حسب Birutė Tumienė, Harm Peters, Béla Melegh, Borut Peterlin, Algirdas Utkus, Natalja Fatkulina, György Pfliegler, Holm Graeßner, Sanja Hermanns, Maurizio Scarpa, Jean‐Yves Blay, Sharon Ashton, Lucy Mckay, Gareth Baynam

    منشور في 2022
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    Artigo
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  7. 7
    Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective

    Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective حسب Thomas Klockgether, Tetsuo Ashizawa, Bernard Brais, Rosalind Chuang, Alexandra Dürr, Brent L. Fogel, Julie Greenfield, Sue Hagen, Laura Bannach Jardim, Hong Jiang, Osamu Onodera, José Luiz Pedroso, Bin‐Weng Soong, David J. Szmulewicz, Holm Graeßner, Matthis Synofzik

    منشور في 2022
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    Artigo
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  8. 8
    Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries

    Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries حسب Daphne H. Schoenmakers, Fanny Mochel, Laura Adang, Jaap Jan Boelens, Valeria Calbi, Erik A. Eklund, Sabine Grønborg, Francesca Fumagalli, Samuel Groeschel, Caroline A. Lindemans, Caroline Sevin, Lüdger Schöls, Dipak Ram, Ayelet Zerem, Holm Graeßner, Nicole I. Wolf

    منشور في 2024
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    Artigo
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  9. 9
    A systematic review of the characteristics and validity of monitoring technologies to assess Parkinson’s disease

    A systematic review of the characteristics and validity of monitoring technologies to assess Parkinson’s disease حسب Catarina Godinho, Josefa Domingos, Guilherme Cunha, A. Santos, Ricardo M. Fernandes, Daisy Abreu, Nilza Gonçalves, Helen Matthews, Tom Isaacs, Joy Duffen, Ahmed Al-Jawad, Frank Larsen, Artur Serrano, Peter Weber, Andrea Thoms, Stefan Sollinger, Holm Graeßner, Walter Maetzler, Joaquim J. Ferreira

    منشور في 2016
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    Revisão
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  10. 10
    Global health for rare diseases through primary care

    Global health for rare diseases through primary care حسب Gareth Baynam, Adam L. Hartman, Mary Catherine V. Letinturier, Matt Bolz-Johnson, Prescilla Carrion, Alice Chen Grady, Xinran Dong, Marc Dooms, Lauren Dreyer, Holm Graeßner, Alı́cia Granados, Tudor Groza, Elisa J. F. Houwink, Saumya Shekhar Jamuar, Tania Vásquez‐Loarte, Birutė Tumienė, Samuel Agyei Wiafe, Heidi Bjornson-Pennell, Stephen C. Groft

    منشور في 2024
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    Artigo
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  11. 11
    Quantitative home-based assessment of Parkinson’s symptoms: The SENSE-PARK feasibility and usability study

    Quantitative home-based assessment of Parkinson’s symptoms: The SENSE-PARK feasibility and usability study حسب Joaquim J. Ferreira, Catarina Godinho, A. Santos, Josefa Domingos, Daisy Abreu, Raquel Lobo, Nilza Gonçalves, Márcio Barra, Frank Larsen, Øyvind Fagerbakke, Ingvild Akeren, Hilde Wangen, J. Artur Serrano, Peter Weber, Andrea Thoms, Stefan Meckler, Stefan Sollinger, Janet van Uem, Markus A. Hobert, Katrin S. Maier, Helen Matthew, Tom Isaacs, Joy Duffen, Holm Graeßner, Walter Maetzler

    منشور في 2015
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    Artigo
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  12. 12
    The European Reference Network for Rare Neurological Diseases

    The European Reference Network for Rare Neurological Diseases حسب Carola Reinhard, Anne‐Catherine Bachoud‐Lévi, Tobias Bäumer, Enrico Bertini, Alicia Brunelle, Annemieke I. Buizer, Antonio Federico, Thomas Gasser, Samuel Groeschel, Sanja Hermanns, Thomas Klockgether, Ingeborg Krägeloh‐Mann, G. Bernhard Landwehrmeyer, Isabelle Leber, Alfons Macaya, Caterina Mariotti, Wassilios G. Meissner, Mária Judit Molnár, Jorik Nonnekes, Juan Darío Ortigoza‐Escobar, Belén Pérez‐Dueñas, Lori Renna Linton, Lüdger Schöls, R. Schuele, Marina A.J. Tijssen, Rik Vandenberghe, Anna Volkmer, Nicole I. Wolf, Holm Graeßner

    منشور في 2021
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    Revisão
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  13. 13
    Recommendations for whole genome sequencing in diagnostics for rare diseases

    Recommendations for whole genome sequencing in diagnostics for rare diseases حسب Erika Souche, Sergi Beltrán, Erwin Brosens, John W. Belmont, Magdalena Fossum, Olaf Rieß, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Mariëlle van Gijn, Jill Clayton‐Smith, Matthis Synofzik, Nicole de Leeuw, Zandra C. Deans, Yasemin Dincer, Sebastian Eck, Saskia van der Crabben, Meena Balasubramanian, Holm Graeßner, Marc Sturm, Helen V. Firth, Alessandra Ferlini, Rima Nabbout, Elfride De Baere, Thomas Liehr, Milan Maçek, Gert Matthijs, Hans Scheffer, Peter Bauer, Helger G. Yntema, Marjan M. Weiss

    منشور في 2022
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    Artigo
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  14. 14
    Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

    Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes حسب German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graeßner, Siddharth Banka, Alfons Macaya, Belén Pérez-Dueñas, Adam Jackson, Giovanni Stévanin, Jean‐Madeleine de Sainte Agathe, Markéta Havlovičová, Rita Horváth, Michele Pinelli, Nienke J.H. van Os, Bart P.C. van de Warrenburg, Anne‐Sophie Denommé‐Pichon, Marco Savarese, Mridul Johari, Bruno Dallapiccola, Marco Tartaglia, Martje G. Pauly, Anna Katharina Sommer, Tobias B. Haack, Ana Töpf, Didier Lacombe, Chiara Fallerini, Alessandra Renieri, Patrick F. Chinnery, Daniel Natera‐de Benito, A. Nascimento, Aurélien Trimouille, Francina Munell, Anna Marcé‐Grau, Ben Yaou Rabah, Gisèle Bonne, Liedewei Van de Vondel, Katja Lohmann, Stephan Ossowski

    منشور في 2024
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    Artigo
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  15. 15
    The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

    The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases حسب Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo, Carles Hernández-Ferrer, Cristina Luengo, Anastasios Papakonstantinou, Joan Protassio, Inés Martínez, Daniel Picó, Rachel Thompson, Raúl Tonda, Mónica Bayés, Gemma Bullich, Jordi Camps, Ida Paramonov, Jean-Rémi Trotta, Ángel Alonso, Marcella Attimonelli, Christophe Béroud, Virginie Bros‐Facer, Orion J. Buske, Andrés Cañada, José M. Fernández, Mats Hansson, Rita Horváth, Julius O.B. Jacobsen, Rajaram Kaliyaperumal, Séverine Lair, Luana Licata, Pedro Lopes, Estrella López‐Martín, Deborah Mascalzoni, Lucía Monaco, Luis Pérez Jurado, Manuel Posada de la Paz, Jordi Rambla, Ana Rath, Olaf Rieß, Peter N. Robinson, Damian Smedley, Dylan Spalding, Peter A.C. ‘t Hoen, Ana Töpf, Irina Zaharieva, Holm Graeßner, Marta Gut, Hanns Lochmüller, Sergi Beltrán

    منشور في 2022
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    Artigo
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  16. 16
    Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

    Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing حسب Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A. Yépez, Anna Esteve‐Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Marjan M. Weiss, Amber den Ouden, Simone van den Heuvel, Hilde Swinkels, Nick Zomer, Marloes Steehouwer, Luke O’Gorman, Galuh Astuti, Kornelia Neveling, Rebecca Schüle, Jishu Xu, Matthis Synofzik, Danique Beijer, Holger Hengel, Lüdger Schöls, Kristl G. Claeys, Jonathan Baets, Liedewei Van de Vondel, Alessandra Ferlini, Rita Selvatici, Heba Morsy, Marwa Saeed Abd Elmaksoud, Volker Straub, Juliane Müller, Veronica Pini, Luke Perry, Anna Sárközy, Irina Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horváth, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, Leslie Matalonga, Steven Laurie, Han G. Brunner, Holm Graeßner, Sergi Beltrán, Stephan Ossowski, Lisenka E.L.M. Vissers, Christian Gilissen, Alexander Hoischen

    منشور في 2024
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    Pré-impressão
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  17. 17
    Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance

    Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance حسب Thomas Klockgether, Matthis Synofzik, Saud Alhusaini, Mathieu Anheim, Irina Antonijevic, Tee Ashizawa, Luís Bataller, Mélanie Berard, Enrico Bertini, Sylvia Boesch, Pedro Braga‐Neto, Emanuel Cassou, Edwin H.W. Chan, Rosalind Chuang, Abbie Collins, Joana Damásio, Karina Carvalho Donis, Antoine Duquette, João Durães, Alexandra Dürr, Rebecca Evans, Jennifer Faber, Jennifer Farmer, Vincenzo A. Gennarino, Holm Graeßner, Marcus Grobe‐Einsler, Hasmet Hanagasie, Morteza Heidari, Henry Houlden, Elisabetta Indelicato, Kinya Ishikawa, Heike Jacobi, Laura Bannach Jardim, Yaz Y. Kisanuki, Svetlana Kopishinskaia, Gilbert L ́Italien, Roderick P.P.W.M. Maas, Michelangelo Mancuso, Caterina Mariotti, Norlinah Mohamed Ibrahim, Wolfgang Nachbauer, Andrea H. Németh, Yi Shiau Ng, Katja Obieglo, Osamu Onodera, Puneet Opal, Luís Pereira de Almeida, Susan Perlman, Guido Primiano, M. Renaud, Liana S. Rosenthal, Francesco Saccà, Zahid Sattar, Tanja Schmitz‐Hübsch, Lüdger Schöls, Rebecca Schüle, Lauren Seeberger, Gabriella Silvestri, Anna Sobańska, Bin‐Weng Soong, Achal Kumar Srivastava, Colleen Stoyas, Sophie Tézenas du Montcel, Andreas Thieme, Dagmar Timmann, Adina Tocoian, Andreas Traschütz, Bart van de Warrenburg, Wolfram Ziegler

    منشور في 2023
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    Revisão
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  18. 18
    Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

    Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases حسب Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M. de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A.C. ‘t Hoen, Antonio Vitobello, Julia M. Schulze‐Hentrich, Olaf Rieß, Han G. Brunner, Anthony J. Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloès, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris A. Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltrán, Holm Graeßner, Tobias B. Haack, Birte Zurek, Kornelia Ellwanger, German Demidov, Marc Sturm, Christoph Keßler, Melanie Wayand, Carlo Wilke, Andreas Traschütz, Lüdger Schöls, Holger Hengel, Peter Heutink, Han G. Brunner, Hans Scheffer, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldız, Tjitske Kleefstra, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton‐Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Émilie Tisserant, Ange‐Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltrán, Marta Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvò, Carles García, Marcos Fernandez-Callejo, Carles Hernández-Ferrer, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros‐Facer, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem

    منشور في 2021
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    Artigo
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  19. 19
    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data حسب Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Prasanth Sivakumar, Peter N. Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K. van der Velde, Antonio Vitobello, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E.L.M. Vissers, Richarda de Voer, Stefan Aretz, Gabriel Capellà, Richarda M. de Voer, D. Gareth Evans, José Garcia‐Pelaez, Elke Holinski‐Feder, Nicoline Hoogerbrugge, Andreas Laner, Carla Oliveíra, Andreas Rump, Evelin Schröck, Anna Katharina Sommer, Verena Steinke‐Lange, Iris te Paske, Marc Tischkowitz, Laura Valle, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton‐Smith, Bruno Dallapiccola, Elke de Boer, Anne‐Sophie Denommé‐Pichon, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Markéta Havlovičová, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López‐Martín, Milan Macek, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Annalaura Torella, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukáš Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Aurélien Trimouille, Alain Verloès, Lisenka E.L.M. Vissers, Antonio Vitobello, Pavel Votýpka, Klea Vyshka, Birte Zurek, Jonathan Baets, Danique Beijer, Gisèle Bonne, Enzo Cohen, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna, Rita Horváth, Henry Houlden, Mridul Johari, Jarred Lau

    منشور في 2021
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    Artigo
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