Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Solve-RD-DITF-RND; The Solve-RD Consortium; Rebecca Schüle; Dagmar Timmann; Corrie E. Erasmus; Jennifer Reichbauer; Melanie Wayand; Jonathan Baets; Peter Balicza; Patrick Chinnery; Alexandra Durr; Tobias Haack; Holger Hengel; Rita Horvath; Henry Houlden; Erik Jan Kamsteeg; Christoph Kamsteeg; Katja Lohmann; Alfons Macaya; Anna Marcé-Grau; Ales Maver; Maria Judit Molnar; Alexander Münchau; Borut Peterlin; Olaf Riess; Ludger Schöls; Giovanni Stevanin; Matthis Synofzik; Vincent Timmerman; Bart van de Warrenburg; Nienke van Os; Jana Vandrovcova; Melanie Wayand; Carlo Wilke; Bart van de Warrenburg; Ludger Schöls; Carlo Wilke; Andrea Bevot; Stephan Zuchner; Sergi Beltran; Steven Laurie; Leslie Matalonga; Holm Graessner; Matthis Synofzik; Birte Zurek; Kornelia Ellwanger; Stephan Ossowski; German Demidov; Marc Sturm; Julia M. Schulze-Hentrich; Rebecca Herzog; Martje Pauly

doi:10.1038/s41431-021-00901-1

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Solve-RD-DITF-RND, The Solve-RD Consortium, Rebecca Schüle^*, Dagmar Timmann, Corrie E. Erasmus, Jennifer Reichbauer, Melanie Wayand, Jonathan Baets, Peter Balicza, Patrick Chinnery, Alexandra Durr, Tobias Haack, Holger Hengel, Rita Horvath, Henry Houlden, Erik Jan Kamsteeg, Christoph Kamsteeg, Katja Lohmann, Alfons Macaya, Anna Marcé-GrauAles Maver, Maria Judit Molnar, Alexander Münchau, Borut Peterlin, Olaf Riess, Ludger Schöls, Giovanni Stevanin, Matthis Synofzik, Vincent Timmerman, Bart van de Warrenburg, Nienke van Os, Jana Vandrovcova, Melanie Wayand, Carlo Wilke, Bart van de Warrenburg, Ludger Schöls, Carlo Wilke, Andrea Bevot, Stephan Zuchner, Sergi Beltran, Steven Laurie, Leslie Matalonga, Holm Graessner, Matthis Synofzik, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Herzog, Martje Pauly

^*Corresponding author for this work

13 Citations (Scopus)

Original language	English
Journal	European Journal of Human Genetics
Volume	29
Issue number	9
Pages (from-to)	1332-1336
Number of pages	5
ISSN	1018-4813
DOIs	https://doi.org/10.1038/s41431-021-00901-1
Publication status	Published - 09.2021

Funding

Funders	Funder number
Instituto Nacional de Bioinformática
Dutch Princess Beatrix Muscle Fund
European Commission
Dutch Spieren voor Spieren Muscle fund
Instituto de Salud Carlos III	PT17/0009/0019, PT13/0001/0044
University of Tubingen
Horizon 2020 Framework Programme	825575
Bundesministerium für Gesundheit
National Institute of Neurological Disorders and Stroke	R01NS072248, 441409627
EJP-RD	H2020 779257, H2020 825575, FP7 305444
Seventh Framework Programme	779257, 305444
Not added	MR/N027302/1
TreatHSP network	01GM1905

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Research Areas and Centers

Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)
Centers: Center for Rare Diseases (ZSE)

DFG Research Classification Scheme

2.23-07 Clinical Neurology, Neurosurgery and Neuroradiology
2.23-06 Molecular and Cellular Neurology and Neuropathology
2.23-08 Human Cognitive and Systems Neuroscience

Access to Document

10.1038/s41431-021-00901-1

Cite this

Solve-RD-DITF-RND, The Solve-RD Consortium, Schüle, R., Timmann, D., Erasmus, C. E., Reichbauer, J., Wayand, M., Baets, J., Balicza, P., Chinnery, P., Durr, A., Haack, T., Hengel, H., Horvath, R., Houlden, H., Kamsteeg, E. J., Kamsteeg, C., Lohmann, K., Macaya, A., ... Pauly, M. (2021). Solving unsolved rare neurological diseases—a Solve-RD viewpoint. European Journal of Human Genetics, 29(9), 1332-1336. https://doi.org/10.1038/s41431-021-00901-1

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title = "Solving unsolved rare neurological diseases—a Solve-RD viewpoint",

author = "Solve-RD-DITF-RND and \{The Solve-RD Consortium\} and Rebecca Sch{\"u}le and Dagmar Timmann and Erasmus, \{Corrie E.\} and Jennifer Reichbauer and Melanie Wayand and Jonathan Baets and Peter Balicza and Patrick Chinnery and Alexandra Durr and Tobias Haack and Holger Hengel and Rita Horvath and Henry Houlden and Kamsteeg, \{Erik Jan\} and Christoph Kamsteeg and Katja Lohmann and Alfons Macaya and Anna Marc{\'e}-Grau and Ales Maver and Molnar, \{Maria Judit\} and Alexander M{\"u}nchau and Borut Peterlin and Olaf Riess and Ludger Sch{\"o}ls and Giovanni Stevanin and Matthis Synofzik and Vincent Timmerman and \{van de Warrenburg\}, Bart and \{van Os\}, Nienke and Jana Vandrovcova and Melanie Wayand and Carlo Wilke and \{van de Warrenburg\}, Bart and Ludger Sch{\"o}ls and Carlo Wilke and Andrea Bevot and Stephan Zuchner and Sergi Beltran and Steven Laurie and Leslie Matalonga and Holm Graessner and Matthis Synofzik and Birte Zurek and Kornelia Ellwanger and Stephan Ossowski and German Demidov and Marc Sturm and Schulze-Hentrich, \{Julia M.\} and Rebecca Herzog and Martje Pauly",

year = "2021",

month = sep,

doi = "10.1038/s41431-021-00901-1",

language = "English",

volume = "29",

pages = "1332--1336",

journal = "European Journal of Human Genetics",

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Solve-RD-DITF-RND, The Solve-RD Consortium, Schüle, R, Timmann, D, Erasmus, CE, Reichbauer, J, Wayand, M, Baets, J, Balicza, P, Chinnery, P, Durr, A, Haack, T, Hengel, H, Horvath, R, Houlden, H, Kamsteeg, EJ, Kamsteeg, C, Lohmann, K, Macaya, A, Marcé-Grau, A, Maver, A, Molnar, MJ, Münchau, A, Peterlin, B, Riess, O, Schöls, L, Stevanin, G, Synofzik, M, Timmerman, V, van de Warrenburg, B, van Os, N, Vandrovcova, J, Wayand, M, Wilke, C, van de Warrenburg, B, Schöls, L, Wilke, C, Bevot, A, Zuchner, S, Beltran, S, Laurie, S, Matalonga, L, Graessner, H, Synofzik, M, Zurek, B, Ellwanger, K, Ossowski, S, Demidov, G, Sturm, M, Schulze-Hentrich, JM, Herzog, R & Pauly, M 2021, 'Solving unsolved rare neurological diseases—a Solve-RD viewpoint', European Journal of Human Genetics, vol. 29, no. 9, pp. 1332-1336. https://doi.org/10.1038/s41431-021-00901-1

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T1 - Solving unsolved rare neurological diseases—a Solve-RD viewpoint

AU - Solve-RD-DITF-RND

AU - The Solve-RD Consortium

AU - Schüle, Rebecca

AU - Timmann, Dagmar

AU - Erasmus, Corrie E.

AU - Reichbauer, Jennifer

AU - Wayand, Melanie

AU - Baets, Jonathan

AU - Balicza, Peter

AU - Chinnery, Patrick

AU - Durr, Alexandra

AU - Haack, Tobias

AU - Hengel, Holger

AU - Horvath, Rita

AU - Houlden, Henry

AU - Kamsteeg, Erik Jan

AU - Kamsteeg, Christoph

AU - Lohmann, Katja

AU - Macaya, Alfons

AU - Marcé-Grau, Anna

AU - Maver, Ales

AU - Molnar, Maria Judit

AU - Münchau, Alexander

AU - Peterlin, Borut

AU - Riess, Olaf

AU - Schöls, Ludger

AU - Stevanin, Giovanni

AU - Synofzik, Matthis

AU - Timmerman, Vincent

AU - van de Warrenburg, Bart

AU - van Os, Nienke

AU - Vandrovcova, Jana

AU - Wayand, Melanie

AU - Wilke, Carlo

AU - van de Warrenburg, Bart

AU - Schöls, Ludger

AU - Wilke, Carlo

AU - Bevot, Andrea

AU - Zuchner, Stephan

AU - Beltran, Sergi

AU - Laurie, Steven

AU - Matalonga, Leslie

AU - Graessner, Holm

AU - Synofzik, Matthis

AU - Zurek, Birte

AU - Ellwanger, Kornelia

AU - Ossowski, Stephan

AU - Demidov, German

AU - Sturm, Marc

AU - Schulze-Hentrich, Julia M.

AU - Herzog, Rebecca

AU - Pauly, Martje

PY - 2021/9

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UR - https://www.scopus.com/pages/publications/85105877975

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DO - 10.1038/s41431-021-00901-1

M3 - Journal articles

C2 - 33972714

AN - SCOPUS:85105877975

SN - 1018-4813

VL - 29

SP - 1332

EP - 1336

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 9

ER -

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Funding

UN SDGs

Research Areas and Centers

DFG Research Classification Scheme

Access to Document

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