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6 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial 2024 . Karaa, Amel \| Bertini, Enrico \| Carelli, Valerio \| Cohen, Bruce \| Ennes, Gregory M. \| Falk, Marni J. \| Goldstein, Amy \| Gorman, Gráinne \| Haas, Richard \| Hirano, Michio \| Klopstock, Thomas \| Koenig, Mary Kay \| Kornblum, Cornelia \| Lamperti, Costanza \| Lehman, Anna \| Longo, Nicola \| Molnar, Maria Judit \| Parikh, Sumit \| Phan, Han \| Pitceathly, Robert D. S. \| Saneto, Russekk \| Scaglia, Fernando \| Servidei, Serenella \| Tarnopolsky, Mark \| Toscano, Antonio \| Van Hove, Johan L. K. \| Vissing, John \| Vockley, Jerry \| Finman, Jeffrey S. \| Abbruscato, Anthony \| Brown, David A. \| Sullivan, Alana \| Shiffer, James A. \| Mancuso, Michelango \| on behalf of the MMPOWER-3 Trial Investigators	2024		http://purl.org/ontology/bibo/Article
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative 2023 . Beijer, Danique \| Fogel, Brent L. \| Beltran, Sergi \| Danzi, Matt C. \| Németh, Andrea H. \| Züchner, Stephan \| Synofzik, Matthis \| AGI Ataxia NGS genomics, platforms Working Group \| Adarmes, Astrid \| Alhusaini, Saud \| Ashrafi, Mahmoud Reza \| Bataller, Luis \| Bertini, Enrico \| Boesch, Sylvia \| Buijsen, Ronald \| Cassou, Emanuel \| Chan, Edwin \| Damásio, Joana \| Donis, Karina \| Elert-Dobkowska, Ewelina \| Elsayed, Liena \| Espinos, Carmen \| Hanağasi, Haşmet \| Heidari, Morteza \| Nachbauer, Wolfgang \| Oliveira, Jorge \| Opal, Puneet \| Paisan-Ruiz, Coro \| Puccio, Hélène \| Saccà, Francesco \| Saraiva-Pereira, Maria Luiza \| Schmidt, Thorsten \| Schüle, Rebecca \| Stevanin, Giovanni \| Wilke, Carlo \| Yoon, Grace \| Zach, Neta \| Zanni, Ginevra	2023		http://purl.org/ontology/bibo/Article
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance 2023 . Klockgether, Thomas \| Synofzik, Matthis \| AGI working group on COAs and Registries \| Alhusaini, Saud \| Anheim, Mathieu \| Antonijevic, Irina \| Ashizawa, Tee \| Bataller, Luis \| Berard, Mélanie \| Bertini, Enrico \| Boesch, Sylvia \| Braga-Neto, Pedro \| Cassou, Emanuel \| Chan, Edwin \| Chuang, Rosalind \| Collins, Abbie \| Damásio, Joana \| Donis, Karina \| Duquette, Antoine \| Durães, João \| Durr, Alexandra \| Evans, Rebecca \| Faber, Jennifer \| Farmer, Jennifer \| Gennarino, Vincenzo \| Graessner, Holm \| Grobe-Einsler, Marcus \| Hanagasie, Hasmet \| Heidari, Morteza \| Houlden, Henry \| Indelicato, Elisabetta \| Ishikawa, Kinya \| Jacobi, Heike \| Jardim, Laura \| Kisanuki, Yaz \| Kopishinskaia, Svetlana \| L ́Italien, Gilbert \| Maas, Roderick \| Mancuso, Michelangelo \| Mariotti, Caterina \| Ibrahim, Norlinah Mohamed \| Nachbauer, Wolfgang \| Nemeth, Andrea \| Ng, Yi Shiau \| Obieglo, Katja \| Onodera, Osamu \| Opal, Puneet \| de Almeida, Luis Pereira \| Perlman, Susan \| Primiano, Guido \| Renaud, Mathilde \| Rosenthal, Liana \| Saccà, Francesco \| Sattar, Zahid \| Schmitz-Hübsch, Tanja \| Schöls, Ludger \| Schüle, Rebecca \| Seeberger, Lauren \| Silvestri, Gabriella \| Sobanska, Anna \| Soong, Bin-Weng \| Srivastava, Achal Kumar \| Stoyas, Colleen \| du Montcel, Sophie Tezenas \| Thieme, Andreas \| Timmann, Dagmar \| Tocoian, Adina \| Traschütz, Andreas \| van de Warrenburg, Bart \| Ziegler, Wolfram	2023		http://purl.org/ontology/bibo/Article
Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers 2023 . Ilg, Winfried \| Milne, Sarah \| Schmitz-Hübsch, Tanja \| Alcock, Lisa \| Beichert, Lukas \| Bertini, Enrico \| Mohamed Ibrahim, Norlinah \| Dawes, Helen \| Gomez, Christopher M. \| Hanagasi, Hasmet \| Kinnunen, Kirsi M. \| Minnerop, Martina \| Németh, Andrea H. \| Newman, Jane \| Ng, Yi Shiau \| Rentz, Clara \| Samanci, Bedia \| Shah, Vrutangkumar V. \| Summa, Susanna \| Vasco, Gessica \| McNames, James \| Horak, Fay B. \| on behalf of the Ataxia Global Initiative (AGI) working group Digital Motor Biomarkers	2023		http://purl.org/ontology/bibo/Article
Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers 2023 . Németh, Andrea H. \| Antoniades, Chrystalina A. \| Dukart, Juergen \| Minnerop, Martina \| Rentz, Clara \| Schuman, Bart-Jan \| van de Warrenburg, Bart \| Willemse, Ilse \| Bertini, Enrico \| Gupta, Anoopum S. \| de Mello Monteiro, Carlos Bandeira \| Almoajil, Hajar \| Quinn, Lori \| Perlman, Susan B. \| Horak, Fay \| Ilg, Winfried \| Traschütz, Andreas \| Vogel, Adam P. \| Dawes, Helen \| on behalf of the AGI Digital-Motor Biomarkers Working Group	2023		http://purl.org/ontology/bibo/Article
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum 2021 . Buelow, Markus \| Süßmuth, David \| Smith, Laurie D. \| Aryani, Omid \| CASTIGLIONI, CLAUDIA \| Stenzel, Werner \| Bertini, Enrico \| Schuelke, Markus \| Knierim, Ellen	2021		http://purl.org/ontology/bibo/Article