Solving unsolved rare neurological diseases—a Solve-RD viewpoint

  1. Timmann, Dagmar
  2. Erasmus, Corrie E.
  3. Reichbauer, Jennifer
  4. Baets, Jonathan
  5. Chinnery, Patrick
  6. Dürr, Alexandra
  7. Haack, Tobias
  8. Hengel, Holger
  9. Kamsteeg, Erik-Jan
  10. Kamsteeg, Christoph
  11. Molnar, Judit
  12. Riess, Olaf
  13. Schüle, Rebecca
  14. Stevanin, Giovanni
  15. Synofzik, Matthis
  16. Timmerman, Vincent
  17. van Os, Nienke
  18. Wayand, Melanie
  19. Wilke, Carlo
  20. van de Warrenburg, Bart
  21. Schöls, Ludger
  22. Wilke, Carlo ORCID logo
  23. Bevot, Andrea
  24. Zuchner, Stephan
  25. Synofzik, Matthis ORCID logo
  26. Graessner, Holm
  27. Zurek, Birte
  28. Ellwanger, Kornelia
  29. Ossowski, Stephan
  30. Demidov, German
  31. Sturm, Marc
  32. Schulze-Hentrich, Julia M.
  33. Heutink, Peter
  34. Brunner, Han
  35. Scheffer, Hans
  36. Hoogerbrugge, Nicoline
  37. Hoischen, Alexander
  38. ’t Hoen, Peter A. C.
  39. Vissers, Lisenka E. L. M.
  40. Gilissen, Christian
  41. Steyaert, Wouter
  42. Sablauskas, Karolis
  43. de Voer, Richarda M.
  44. Janssen, Erik
  45. de Boer, Elke
  46. Steehouwer, Marloes
  47. Yaldiz, Burcu
  48. Kleefstra, Tjitske
  49. Brookes, Anthony J.
  50. Veal, Colin
  51. Gibson, Spencer
  52. Wadsley, Marc
  53. Mehtarizadeh, Mehdi
  54. Riaz, Umar
  55. Warren, Greg
  56. Dizjikan, Farid Yavari
  57. Shorter, Thomas
  58. Töpf, Ana
  59. Straub, Volker
  60. Bettolo, Chiara Marini
  61. Specht, Sabine
  62. Clayton-Smith, Jill
  63. Banka, Siddharth
  64. Alexander, Elizabeth
  65. Jackson, Adam
  66. Faivre, Laurence
  67. Thauvin, Christel
  68. Vitobello, Antonio
  69. Denommé-Pichon, Anne-Sophie
  70. Duffourd, Yannis
  71. Tisserant, Emilie
  72. Bruel, Ange-Line
  73. Peyron, Christine
  74. Pélissier, Aurore
  75. Beltran, Sergi
  76. Gut, Ivo Glynne
  77. Laurie, Steven
  78. Piscia, Davide
  79. Matalonga, Leslie
  80. Papakonstantinou, Anastasios
  81. Bullich, Gemma
  82. Corvo, Alberto
  83. Garcia, Carles
  84. Fernandez-Callejo, Marcos
  85. Hernández, Carles
  86. Picó, Daniel
  87. Paramonov, Ida
  88. Gumus, Gulcin
  89. Bros-Facer, Virginie
  90. Rath, Ana
  91. Hanauer, Marc
  92. Olry, Annie
  93. Lagorce, David
  94. Havrylenko, Svitlana
  95. Izem, Katia
  96. Rigour, Fanny
  97. Durr, Alexandra
  98. Davoine, Claire-Sophie
  99. Guillot-Noel, Léna
  100. Heinzmann, Anna
  101. Coarelli, Giulia
  102. Bonne, Gisèle
  103. Evangelista, Teresinha
  104. Allamand, Valérie
  105. Nelson, Isabelle
  106. Yaou, Rabah Ben
  107. Metay, Corinne
  108. Eymard, Bruno
  109. Cohen, Enzo
  110. Atalaia, Antonio
  111. Stojkovic, Tanya
  112. Macek, Milan
  113. Turnovec, Marek
  114. Thomasová, Dana
  115. Kremliková, Radka Pourová
  116. Franková, Vera
  117. Havlovicová, Markéta
  118. Kremlik, Vlastimil
  119. Parkinson, Helen
  120. Keane, Thomas
  121. Spalding, Dylan
  122. Senf, Alexander
  123. Robinson, Peter
  124. Danis, Daniel
  125. Robert, Glenn
  126. Costa, Alessia
  127. Patch, Christine
  128. Hanna, Mike
  129. Houlden, Henry
  130. Reilly, Mary
  131. Vandrovcova, Jana
  132. Muntoni, Francesco
  133. Zaharieva, Irina
  134. Sarkozy, Anna
  135. de Jonghe, Peter
  136. Nigro, Vincenzo
  137. Banfi, Sandro
  138. Torella, Annalaura
  139. Musacchia, Francesco
  140. Piluso, Giulio
  141. Ferlini, Alessandra
  142. Selvatici, Rita
  143. Rossi, Rachele
  144. Neri, Marcella
  145. Aretz, Stefan
  146. Spier, Isabel
  147. Sommer, Anna Katharina
  148. Peters, Sophia
  149. Oliveira, Carla
  150. Pelaez, Jose Garcia
  151. Matos, Ana Rita
  152. José, Celina São
  153. Ferreira, Marta
  154. Gullo, Irene
  155. Fernandes, Susana
  156. Garrido, Luzia
  157. Ferreira, Pedro
  158. Carneiro, Fátima
  159. Swertz, Morris A.
  160. Johansson, Lennart
  161. van der Velde, Joeri K.
  162. van der Vries, Gerben
  163. Neerincx, Pieter B.
  164. Roelofs-Prins, Dieuwke
  165. Köhler, Sebastian
  166. Metcalfe, Alison
  167. Verloes, Alain
  168. Drunat, Séverine
  169. Rooryck, Caroline
  170. Trimouille, Aurelien
  171. Castello, Raffaele
  172. Morleo, Manuela
  173. Pinelli, Michele
  174. Varavallo, Alessandra
  175. De la Paz, Manuel Posada
  176. Sánchez, Eva Bermejo
  177. Martín, Estrella López
  178. Delgado, Beatriz Martínez
  179. de la Rosa, F. Javier Alonso García
  180. Ciolfi, Andrea
  181. Dallapiccola, Bruno
  182. Pizzi, Simone
  183. Radio, Francesca Clementina
  184. Tartaglia, Marco
  185. Renieri, Alessandra
  186. Benetti, Elisa
  187. Balicza, Peter
  188. Molnar, Maria Judit
  189. Maver, Ales
  190. Peterlin, Borut
  191. Münchau, Alexander
  192. Lohmann, Katja
  193. Herzog, Rebecca
  194. Pauly, Martje
  195. Macaya, Alfons
  196. Marcé-Grau, Anna
  197. Osorio, Andres Nascimiento
  198. de Benito, Daniel Natera
  199. Lochmüller, Hanns
  200. Thompson, Rachel
  201. Polavarapu, Kiran
  202. Beeson, David
  203. Cossins, Judith
  204. Cruz, Pedro M. Rodriguez
  205. Hackman, Peter
  206. Johari, Mridul
  207. Savarese, Marco
  208. Udd, Bjarne
  209. Horvath, Rita
  210. Capella, Gabriel
  211. Valle, Laura
  212. Holinski-Feder, Elke
  213. Laner, Andreas
  214. Steinke-Lange, Verena
  215. Schröck, Evelin
  216. Rump, Andreas

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1000 Titel
  • Solving unsolved rare neurological diseases—a Solve-RD viewpoint
1000 Autor/in
  1. Timmann, Dagmar |
  2. Erasmus, Corrie E. |
  3. Reichbauer, Jennifer |
  4. Baets, Jonathan |
  5. Chinnery, Patrick |
  6. Dürr, Alexandra |
  7. Haack, Tobias |
  8. Hengel, Holger |
  9. Kamsteeg, Erik-Jan |
  10. Kamsteeg, Christoph |
  11. Molnar, Judit |
  12. Riess, Olaf |
  13. Schüle, Rebecca |
  14. Stevanin, Giovanni |
  15. Synofzik, Matthis |
  16. Timmerman, Vincent |
  17. van Os, Nienke |
  18. Wayand, Melanie |
  19. Wilke, Carlo |
  20. van de Warrenburg, Bart |
  21. Schöls, Ludger |
  22. Wilke, Carlo |
  23. Bevot, Andrea |
  24. Zuchner, Stephan |
  25. Synofzik, Matthis |
  26. Graessner, Holm |
  27. Zurek, Birte |
  28. Ellwanger, Kornelia |
  29. Ossowski, Stephan |
  30. Demidov, German |
  31. Sturm, Marc |
  32. Schulze-Hentrich, Julia M. |
  33. Heutink, Peter |
  34. Brunner, Han |
  35. Scheffer, Hans |
  36. Hoogerbrugge, Nicoline |
  37. Hoischen, Alexander |
  38. ’t Hoen, Peter A. C. |
  39. Vissers, Lisenka E. L. M. |
  40. Gilissen, Christian |
  41. Steyaert, Wouter |
  42. Sablauskas, Karolis |
  43. de Voer, Richarda M. |
  44. Janssen, Erik |
  45. de Boer, Elke |
  46. Steehouwer, Marloes |
  47. Yaldiz, Burcu |
  48. Kleefstra, Tjitske |
  49. Brookes, Anthony J. |
  50. Veal, Colin |
  51. Gibson, Spencer |
  52. Wadsley, Marc |
  53. Mehtarizadeh, Mehdi |
  54. Riaz, Umar |
  55. Warren, Greg |
  56. Dizjikan, Farid Yavari |
  57. Shorter, Thomas |
  58. Töpf, Ana |
  59. Straub, Volker |
  60. Bettolo, Chiara Marini |
  61. Specht, Sabine |
  62. Clayton-Smith, Jill |
  63. Banka, Siddharth |
  64. Alexander, Elizabeth |
  65. Jackson, Adam |
  66. Faivre, Laurence |
  67. Thauvin, Christel |
  68. Vitobello, Antonio |
  69. Denommé-Pichon, Anne-Sophie |
  70. Duffourd, Yannis |
  71. Tisserant, Emilie |
  72. Bruel, Ange-Line |
  73. Peyron, Christine |
  74. Pélissier, Aurore |
  75. Beltran, Sergi |
  76. Gut, Ivo Glynne |
  77. Laurie, Steven |
  78. Piscia, Davide |
  79. Matalonga, Leslie |
  80. Papakonstantinou, Anastasios |
  81. Bullich, Gemma |
  82. Corvo, Alberto |
  83. Garcia, Carles |
  84. Fernandez-Callejo, Marcos |
  85. Hernández, Carles |
  86. Picó, Daniel |
  87. Paramonov, Ida |
  88. Gumus, Gulcin |
  89. Bros-Facer, Virginie |
  90. Rath, Ana |
  91. Hanauer, Marc |
  92. Olry, Annie |
  93. Lagorce, David |
  94. Havrylenko, Svitlana |
  95. Izem, Katia |
  96. Rigour, Fanny |
  97. Durr, Alexandra |
  98. Davoine, Claire-Sophie |
  99. Guillot-Noel, Léna |
  100. Heinzmann, Anna |
  101. Coarelli, Giulia |
  102. Bonne, Gisèle |
  103. Evangelista, Teresinha |
  104. Allamand, Valérie |
  105. Nelson, Isabelle |
  106. Yaou, Rabah Ben |
  107. Metay, Corinne |
  108. Eymard, Bruno |
  109. Cohen, Enzo |
  110. Atalaia, Antonio |
  111. Stojkovic, Tanya |
  112. Macek, Milan |
  113. Turnovec, Marek |
  114. Thomasová, Dana |
  115. Kremliková, Radka Pourová |
  116. Franková, Vera |
  117. Havlovicová, Markéta |
  118. Kremlik, Vlastimil |
  119. Parkinson, Helen |
  120. Keane, Thomas |
  121. Spalding, Dylan |
  122. Senf, Alexander |
  123. Robinson, Peter |
  124. Danis, Daniel |
  125. Robert, Glenn |
  126. Costa, Alessia |
  127. Patch, Christine |
  128. Hanna, Mike |
  129. Houlden, Henry |
  130. Reilly, Mary |
  131. Vandrovcova, Jana |
  132. Muntoni, Francesco |
  133. Zaharieva, Irina |
  134. Sarkozy, Anna |
  135. de Jonghe, Peter |
  136. Nigro, Vincenzo |
  137. Banfi, Sandro |
  138. Torella, Annalaura |
  139. Musacchia, Francesco |
  140. Piluso, Giulio |
  141. Ferlini, Alessandra |
  142. Selvatici, Rita |
  143. Rossi, Rachele |
  144. Neri, Marcella |
  145. Aretz, Stefan |
  146. Spier, Isabel |
  147. Sommer, Anna Katharina |
  148. Peters, Sophia |
  149. Oliveira, Carla |
  150. Pelaez, Jose Garcia |
  151. Matos, Ana Rita |
  152. José, Celina São |
  153. Ferreira, Marta |
  154. Gullo, Irene |
  155. Fernandes, Susana |
  156. Garrido, Luzia |
  157. Ferreira, Pedro |
  158. Carneiro, Fátima |
  159. Swertz, Morris A. |
  160. Johansson, Lennart |
  161. van der Velde, Joeri K. |
  162. van der Vries, Gerben |
  163. Neerincx, Pieter B. |
  164. Roelofs-Prins, Dieuwke |
  165. Köhler, Sebastian |
  166. Metcalfe, Alison |
  167. Verloes, Alain |
  168. Drunat, Séverine |
  169. Rooryck, Caroline |
  170. Trimouille, Aurelien |
  171. Castello, Raffaele |
  172. Morleo, Manuela |
  173. Pinelli, Michele |
  174. Varavallo, Alessandra |
  175. De la Paz, Manuel Posada |
  176. Sánchez, Eva Bermejo |
  177. Martín, Estrella López |
  178. Delgado, Beatriz Martínez |
  179. de la Rosa, F. Javier Alonso García |
  180. Ciolfi, Andrea |
  181. Dallapiccola, Bruno |
  182. Pizzi, Simone |
  183. Radio, Francesca Clementina |
  184. Tartaglia, Marco |
  185. Renieri, Alessandra |
  186. Benetti, Elisa |
  187. Balicza, Peter |
  188. Molnar, Maria Judit |
  189. Maver, Ales |
  190. Peterlin, Borut |
  191. Münchau, Alexander |
  192. Lohmann, Katja |
  193. Herzog, Rebecca |
  194. Pauly, Martje |
  195. Macaya, Alfons |
  196. Marcé-Grau, Anna |
  197. Osorio, Andres Nascimiento |
  198. de Benito, Daniel Natera |
  199. Lochmüller, Hanns |
  200. Thompson, Rachel |
  201. Polavarapu, Kiran |
  202. Beeson, David |
  203. Cossins, Judith |
  204. Cruz, Pedro M. Rodriguez |
  205. Hackman, Peter |
  206. Johari, Mridul |
  207. Savarese, Marco |
  208. Udd, Bjarne |
  209. Horvath, Rita |
  210. Capella, Gabriel |
  211. Valle, Laura |
  212. Holinski-Feder, Elke |
  213. Laner, Andreas |
  214. Steinke-Lange, Verena |
  215. Schröck, Evelin |
  216. Rump, Andreas |
1000 Erscheinungsjahr 2021
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2021-05-10
1000 Erschienen in
1000 Quellenangabe
  • 29(9):1332-1336
1000 Copyrightjahr
  • 2021
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1038/s41431-021-00901-1 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440537/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Glaucoma, its early diagnosis, and monitoring of interventions remain an ongoing challenge. We here review developments in functional assessment and its relation to morphology, evaluating recent insights in electrophysiology in glaucoma and highlighting how glaucoma research and diagnostics benefit from combined approaches of OCT and electrophysiological investigations. After concise overviews of OCT and non-invasive electrophysiology in glaucoma, we evaluate commonalities and complementarities of OCT and electrophysiology for our understanding of glaucoma. As a specific topic, the dynamic range (floor effects) of the various techniques is discussed.
1000 Sacherschließung
lokal Neurodevelopmental disorders
lokal Genomics/standards [MeSH]
lokal Datasets as Topic [MeSH]
lokal Humans [MeSH]
lokal Practice Guidelines as Topic [MeSH]
lokal Whole Exome Sequencing/methods [MeSH]
lokal Genomics/methods [MeSH]
lokal Neurodegenerative diseases
lokal Viewpoint
lokal Nervous System Diseases/pathology [MeSH]
lokal Genetic Testing/standards [MeSH]
lokal Rare Diseases/genetics [MeSH]
lokal Whole Exome Sequencing/standards [MeSH]
lokal Genetic Testing/methods [MeSH]
lokal Nervous System Diseases/genetics [MeSH]
lokal Movement disorders
lokal Rare Diseases/pathology [MeSH]
1000 Liste der Beteiligten
  1. 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1000 Hinweis
  • DeepGreen-ID: 36bb17ae092440298e1362980e9e0cf3 ; metadata provieded by: DeepGreen (https://www.oa-deepgreen.de/api/v1/), LIVIVO search scope life sciences (http://z3950.zbmed.de:6210/livivo), Crossref Unified Resource API (https://api.crossref.org/swagger-ui/index.html), to.science.api (https://frl.publisso.de/), ZDB JSON-API (beta) (https://zeitschriftendatenbank.de/api/), lobid - Dateninfrastruktur für Bibliotheken (https://lobid.org/resources/search)
1000 Label
1000 Dateien
  1. Solving unsolved rare neurological diseases—a Solve-RD viewpoint
    Solving unsolved rare neurological diseases—a Solve-RD viewpoint
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6442786.rdf
1000 Erstellt am 2023-04-26T15:43:03.187+0200
1000 Erstellt von 322
1000 beschreibt frl:6442786
1000 Zuletzt bearbeitet Sat Oct 14 10:49:32 CEST 2023
1000 Objekt bearb. Sat Oct 14 10:49:32 CEST 2023
1000 Vgl. frl:6442786
1000 Oai Id
  1. oai:frl.publisso.de:frl:6442786 |
1000 Sichtbarkeit Metadaten public
1000 Sichtbarkeit Daten public
1000 Gegenstand von

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