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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 13
2025
Fogel, Brent L. 
ORCID: https://orcid.org/0000-0001-9831-1576; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Lynch, David R. ORCID: https://orcid.org/0000-0001-7168-214X; Maltecca, Francesca; Verma, Mayank; Minassian, Berge A. ORCID: https://orcid.org/0000-0002-9322-0189; Platt, Frances M.; Gonçalves, Débora Farina; Puccio, Hélène; Roos, Andreas und Synofzik, Matthis ORCID: https://orcid.org/0000-0002-2280-7273
(2025):
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies.
In: Annals of Neurology, Bd. 98, Nr. 3: S. 448-470
[PDF, 1MB]
ORCID: https://orcid.org/0000-0001-9831-1576; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Lynch, David R. ORCID: https://orcid.org/0000-0001-7168-214X; Maltecca, Francesca; Verma, Mayank; Minassian, Berge A. ORCID: https://orcid.org/0000-0002-9322-0189; Platt, Frances M.; Gonçalves, Débora Farina; Puccio, Hélène; Roos, Andreas und Synofzik, Matthis ORCID: https://orcid.org/0000-0002-2280-7273
(2025):
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies.
In: Annals of Neurology, Bd. 98, Nr. 3: S. 448-470
[PDF, 1MB]
Dafsari, Hormos Salimi ORCID: https://orcid.org/0000-0003-3483-5009; Deneubourg, Celine; Singh, Kritarth ORCID: https://orcid.org/0000-0003-4072-6888; Maroofian, Reza ORCID: https://orcid.org/0000-0001-6763-1542; Suprenant, Zita; Kho, Ay Lin; Ingham, Neil J; Steel, Karen P; Sheshadri, Preethi; Baur, Franciska; Hentrich, Lea; Gerisch, Birgit; Zamani, Mina; Alves, Cesar; Siddiqui, Ata; Dafsari, Haidar S; Salari, Mehri; Lang, Anthony E.; Harris, Michael; Abdelaleem, Alice; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Shariati, Gholamreza; Sedaghat, Alireza; Zeighami, Jawaher; Calame, Daniel ORCID: https://orcid.org/0000-0001-6860-372X; Marafi, Dana ORCID: https://orcid.org/0000-0003-2233-3423; Duan, Ruizhi; Boehnke, Adrian; Clark, Gary D.; Rosenfeld, Jill A. ORCID: https://orcid.org/0000-0001-5664-7987; Mohila, Carrie A.; Steel, Dora; Chopra, Saurabh; Sharma, Suvasini; Kohlschmidt, Nicolai; Patzer, Steffi; Saffari, Afshin; Ebrahimi‐Fakhari, Darius ORCID: https://orcid.org/0000-0002-0026-4714; Çavdartepe, Büşra Eser; Chang, Irene J; Beckman, Erika; Peters, Renate; Fennell, Andrew Paul; Lo, Bernice; Averdunk, Luisa; Distelmaier, Felix; Baethmann, Martina; Elmslie, Frances; Joost, Kairit; Nampoothiri, Sheela; Yesodharan, Dhanya; Mandel, Hanna; Kimball, Amy; Kline, Antonie D.; Mignot, Cyril; Keren, Boris; Laugel, Vincent; Õunap, Katrin; Devadathan, Kalpana; Berkestijn, Frederique M.C. van; Silwal, Arpana ORCID: https://orcid.org/0000-0002-0950-3101; Koene, Saskia; Verma, Sumit ORCID: https://orcid.org/0000-0003-1992-4556; Karim, Mohammed Yousuf; Boubidi, Chahynez; Aziz, Majid; ElGhazali, Gehad; Mattas, Lauren; Miryounesi, Mohammad; Hashemi‐Gorji, Farzad ORCID: https://orcid.org/0000-0002-9996-9406; Alavi, Shahryar ORCID: https://orcid.org/0000-0002-3484-3423; Nouri, Nayereh; Noruzinia, Mehrdad; Kavousi, Saeideh; Kamath, Arveen; Jayawant, Sandeep; Saneto, Russell; Haridy, Nourelhoda A.; Kart, Pinar Ozkan; Cansu, Ali; Joubert, Madeleine; Beneteau, Claire; Stuurman, Kyra E.; Wilke, Martina; Barakat, Tahsin Stefan ORCID: https://orcid.org/0000-0003-1231-1562; Tajsharghi, Homa ORCID: https://orcid.org/0000-0001-8854-5213; Scardamaglia, Annarita; Vallian, Sadeq; Hız, Semra; Shoeibi, Ali; Boostani, Reza; Hashemi, Narges; Babaei, Meisam; Alsaleh, Norah Saleh; Porter, Julie; Attié‐Bitach, Tania; Marzin, Pauline; Wicher, Dorota; Gold, Jessica I.; Schuler, Elisabeth; Kashgari, Amna; Alanazi, Rakan F.; Eyaid, Wafaa; Engelen, Marc; Langeveld, Mirjam; Stüve, Burkhard; Li, Yun; Yigit, Gökhan; Wollnik, Bernd; Monje, Mariana H.G ORCID: https://orcid.org/0000-0002-0730-4061; Krainc, Dimitri; Mencacci, Niccolò E.; Bakhtiari, Somayeh; Kruer, Michael; Argilli, Emanuela; Sherr, Elliott; Jamshidi, Yalda; Karimiani, Ehsan Ghayoor; Cheung, Yiu Wing Sunny; Karin, Ivan; Zifarelli, Giovanni; Bauer, Peter; Chung, Wendy K; Lupski, James R.; Kurian, Manju A.; Dötsch, Jörg; von Kleist‐Retzow, Jürgen‐Christoph; Klopstock, Thomas; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Yip, Calvin; Roos, Andreas; Carsetti, Rita; Dionisi‐Vici, Carlo; Gautel, Mathias; Duchen, Michael R ORCID: https://orcid.org/0000-0003-2548-4294; Antebi, Adam ORCID: https://orcid.org/0000-0002-7241-3029; Houlden, Henry ORCID: https://orcid.org/0000-0002-2866-7777; Fanto, Manolis ORCID: https://orcid.org/0000-0001-7807-2563 und Jungbluth, Heinz ORCID: https://orcid.org/0000-0002-7159-3427
(2025):
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism.
In: Annals of Neurology, Bd. 98, Nr. 5: S. 932-950
[PDF, 4MB]
ORCID: https://orcid.org/0000-0003-3483-5009; Deneubourg, Celine; Singh, Kritarth ORCID: https://orcid.org/0000-0003-4072-6888; Maroofian, Reza ORCID: https://orcid.org/0000-0001-6763-1542; Suprenant, Zita; Kho, Ay Lin; Ingham, Neil J; Steel, Karen P; Sheshadri, Preethi; Baur, Franciska; Hentrich, Lea; Gerisch, Birgit; Zamani, Mina; Alves, Cesar; Siddiqui, Ata; Dafsari, Haidar S; Salari, Mehri; Lang, Anthony E.; Harris, Michael; Abdelaleem, Alice; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Shariati, Gholamreza; Sedaghat, Alireza; Zeighami, Jawaher; Calame, Daniel ORCID: https://orcid.org/0000-0001-6860-372X; Marafi, Dana ORCID: https://orcid.org/0000-0003-2233-3423; Duan, Ruizhi; Boehnke, Adrian; Clark, Gary D.; Rosenfeld, Jill A. ORCID: https://orcid.org/0000-0001-5664-7987; Mohila, Carrie A.; Steel, Dora; Chopra, Saurabh; Sharma, Suvasini; Kohlschmidt, Nicolai; Patzer, Steffi; Saffari, Afshin; Ebrahimi‐Fakhari, Darius ORCID: https://orcid.org/0000-0002-0026-4714; Çavdartepe, Büşra Eser; Chang, Irene J; Beckman, Erika; Peters, Renate; Fennell, Andrew Paul; Lo, Bernice; Averdunk, Luisa; Distelmaier, Felix; Baethmann, Martina; Elmslie, Frances; Joost, Kairit; Nampoothiri, Sheela; Yesodharan, Dhanya; Mandel, Hanna; Kimball, Amy; Kline, Antonie D.; Mignot, Cyril; Keren, Boris; Laugel, Vincent; Õunap, Katrin; Devadathan, Kalpana; Berkestijn, Frederique M.C. van; Silwal, Arpana ORCID: https://orcid.org/0000-0002-0950-3101; Koene, Saskia; Verma, Sumit ORCID: https://orcid.org/0000-0003-1992-4556; Karim, Mohammed Yousuf; Boubidi, Chahynez; Aziz, Majid; ElGhazali, Gehad; Mattas, Lauren; Miryounesi, Mohammad; Hashemi‐Gorji, Farzad ORCID: https://orcid.org/0000-0002-9996-9406; Alavi, Shahryar ORCID: https://orcid.org/0000-0002-3484-3423; Nouri, Nayereh; Noruzinia, Mehrdad; Kavousi, Saeideh; Kamath, Arveen; Jayawant, Sandeep; Saneto, Russell; Haridy, Nourelhoda A.; Kart, Pinar Ozkan; Cansu, Ali; Joubert, Madeleine; Beneteau, Claire; Stuurman, Kyra E.; Wilke, Martina; Barakat, Tahsin Stefan ORCID: https://orcid.org/0000-0003-1231-1562; Tajsharghi, Homa ORCID: https://orcid.org/0000-0001-8854-5213; Scardamaglia, Annarita; Vallian, Sadeq; Hız, Semra; Shoeibi, Ali; Boostani, Reza; Hashemi, Narges; Babaei, Meisam; Alsaleh, Norah Saleh; Porter, Julie; Attié‐Bitach, Tania; Marzin, Pauline; Wicher, Dorota; Gold, Jessica I.; Schuler, Elisabeth; Kashgari, Amna; Alanazi, Rakan F.; Eyaid, Wafaa; Engelen, Marc; Langeveld, Mirjam; Stüve, Burkhard; Li, Yun; Yigit, Gökhan; Wollnik, Bernd; Monje, Mariana H.G ORCID: https://orcid.org/0000-0002-0730-4061; Krainc, Dimitri; Mencacci, Niccolò E.; Bakhtiari, Somayeh; Kruer, Michael; Argilli, Emanuela; Sherr, Elliott; Jamshidi, Yalda; Karimiani, Ehsan Ghayoor; Cheung, Yiu Wing Sunny; Karin, Ivan; Zifarelli, Giovanni; Bauer, Peter; Chung, Wendy K; Lupski, James R.; Kurian, Manju A.; Dötsch, Jörg; von Kleist‐Retzow, Jürgen‐Christoph; Klopstock, Thomas; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Yip, Calvin; Roos, Andreas; Carsetti, Rita; Dionisi‐Vici, Carlo; Gautel, Mathias; Duchen, Michael R ORCID: https://orcid.org/0000-0003-2548-4294; Antebi, Adam ORCID: https://orcid.org/0000-0002-7241-3029; Houlden, Henry ORCID: https://orcid.org/0000-0002-2866-7777; Fanto, Manolis ORCID: https://orcid.org/0000-0001-7807-2563 und Jungbluth, Heinz ORCID: https://orcid.org/0000-0002-7159-3427
(2025):
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism.
In: Annals of Neurology, Bd. 98, Nr. 5: S. 932-950
[PDF, 4MB]
Jacob, Maureen; Kölbel, Heike; Harrer, Philip; Kopajtich, Robert; Munot, Pinki; Achleitner, Melanie T; Badmann, Susann; Brugger, Melanie ORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Bonne, Gisèle; Codina, Marta; Ebner, Laura; Eshraghi, Peyman; Eyring, Katharina; Farhat, Ahmad Shah; Feichtinger, René G; Graf, Elisabeth; Marcé-Grau, Anna; Hahn, Andreas; Houlden, Henry ORCID: https://orcid.org/0000-0002-2866-7777; Karimiani, Ehsan Ghayoor; Manel, Véronique; Mayerhanser, Katharina; Nectoux, Juliette; Nelson, Isabelle; Phadke, Rahul; Prokisch, Holger; Sadeghian, Saeid ORCID: https://orcid.org/0000-0002-7935-3401; Saparov, Alice; Schänzer, Anne ORCID: https://orcid.org/0000-0002-2014-2028; Schara-Schmidt, Ulrike; Schmidt, Julia; Schuler, Rahel; Sewry, Caroline; Shariati, Gholamreza; Slanz, Silke; Smirnov, Dmitrii; Sukenik-Halevy, Rivka; Tajsharghi, Homa; Toosi, Mehran Beiraghi; Trujillano, Laura; Weis, Joachim ORCID: https://orcid.org/0000-0003-3280-6773; Wilson, Louise C; Ben Yaou, Rabah; Zamani, Mina; Zech, Michael; Zschüntzsch, Jana; Kornak, Uwe; Goméz-Andrés, David ORCID: https://orcid.org/0000-0001-5654-7791; Maroofian, Reza ORCID: https://orcid.org/0000-0001-6763-1542; Winkelmann, Juliane; Roos, Andreas; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; Mayr, Johannes A und Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823
(2025):
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
In: Brain, awaf227 [Forthcoming]
ORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Bonne, Gisèle; Codina, Marta; Ebner, Laura; Eshraghi, Peyman; Eyring, Katharina; Farhat, Ahmad Shah; Feichtinger, René G; Graf, Elisabeth; Marcé-Grau, Anna; Hahn, Andreas; Houlden, Henry ORCID: https://orcid.org/0000-0002-2866-7777; Karimiani, Ehsan Ghayoor; Manel, Véronique; Mayerhanser, Katharina; Nectoux, Juliette; Nelson, Isabelle; Phadke, Rahul; Prokisch, Holger; Sadeghian, Saeid ORCID: https://orcid.org/0000-0002-7935-3401; Saparov, Alice; Schänzer, Anne ORCID: https://orcid.org/0000-0002-2014-2028; Schara-Schmidt, Ulrike; Schmidt, Julia; Schuler, Rahel; Sewry, Caroline; Shariati, Gholamreza; Slanz, Silke; Smirnov, Dmitrii; Sukenik-Halevy, Rivka; Tajsharghi, Homa; Toosi, Mehran Beiraghi; Trujillano, Laura; Weis, Joachim ORCID: https://orcid.org/0000-0003-3280-6773; Wilson, Louise C; Ben Yaou, Rabah; Zamani, Mina; Zech, Michael; Zschüntzsch, Jana; Kornak, Uwe; Goméz-Andrés, David ORCID: https://orcid.org/0000-0001-5654-7791; Maroofian, Reza ORCID: https://orcid.org/0000-0001-6763-1542; Winkelmann, Juliane; Roos, Andreas; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; Mayr, Johannes A und Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823
(2025):
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
In: Brain, awaf227 [Forthcoming]
2022
Gangfuss, Andrea; Hentschel, Andreas; Rademacher, Nina; Sickmann, Albert; Stueve, Burkhard; Horvath, Rita; Gross, Claudia; Kohlschmidt, Nicolai; Foerster, Fabian; Abicht, Angela; Schaenzer, Anne; Schara-Schmidt, Ulrike; Roos, Andreas und Della Marina, Adela
(2022):
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.
In: Human Mutation, Bd. 43, Nr. 4: S. 477-486
Guettsches, Anne-Katrin; Meyer, Nancy; Zahedi, Rene P.; Evangelista, Teresinha; Muentefering, Thomas; Ruck, Tobias; Lacene, Emmanuelle; Heute, Christoph; Gonczarowska-Jorge, Humberto; Schoser, Benedikt; Krause, Sabine; Hentschel, Andreas; Vorgerd, Matthias und Roos, Andreas
(2022):
FYCO1 Increase and Effect of Arimoclomol-Treatment in Human VCP-Pathology.
In: Biomedicines, Bd. 10, Nr. 10, 2443
Preuße, Corinna; Paesler, Barbara; Nelke, Christopher; Cengiz, Derya; Müntefering, Thomas; Roos, Andreas; Amelin, Damien; Allenbach, Yves; Uruha, Akinori; Dittmayer, Carsten; Hentschel, Andreas; Pawlitzki, Marc; Hoffmann, Sarah; Timm, Sara; Louis, Sarah Leonard; Dengler, Nora F.; Wiendl, Heinz; Lunemann, Jan D.; Sickmann, Albert; Hervier, Baptiste; Meuth, Sven G.; Schneider, Udo; Schänzer, Anne; Krause, Sabine; Tomaras, Stylianos; Feist, Eugen; Hasseli, Rebecca; Goebel, Hans-Hilmar; Gallay, Laure; Streichenberger, Nathalie; Benveniste, Olivier; Stenzel, Werner und Ruck, Tobias
(2022):
Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis.
In: Acta Neuropathologica, Bd. 144, Nr. 2: S. 353-372
2021
Saffari, Afshin; Cannet, Claire; Blaschek, Astrid; Hahn, Andreas; Hoffmann, Georg F.; Johannsen, Jessika; Kirsten, Romy; Kockaya, Musa; Kölker, Stefan; Müller-Felber, Wolfgang; Roos, Andreas; Schäfer, Hartmut; Schara, Ulrike; Spraul, Manfred; Trefz, Friedrich K.; Vill, Katharina; Wick, Wolfgang; Weiler, Markus; Okun, Jürgen G. und Ziegler, Andreas
(2021):
H-1-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 441
Vogt, Guido; El Choubassi, Naji; Herczegfalvi, Agnes; Koelbel, Heike; Lekaj, Anja; Schara, Ulrike; Holtgrewe, Manuel; Krause, Sabine; Horvath, Rita; Schuelke, Markus; Hubner, Christoph; Mundlos, Stefan; Roos, Andreas; Lochmueller, Hanns; Karcagi, Veronika; Kornak, Uwe und Fischer-Zirnsak, Bjoern
(2021):
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 4: S. 972-986
2020
Della Marina, Adela; Wibbeler, Eva; Abicht, Angela; Kolbel, Heike; Lochmueller, Hanns; Roos, Andreas und Schara, Ulrike
(Dezember 2020):
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study.
In: Frontiers in Human Neuroscience, Bd. 14, 560860: S. 1-13
[PDF, 857kB]
2017
Weis, Joachim; Claeys, Kristl G.; Roos, Andreas; Azzedine, Hamid; Katona, Istvan; Schröder, J. Michael und Senderek, Jan
(2017):
Towards a functional pathology of hereditary neuropathies.
In: Acta Neuropathologica, Bd. 133, Nr. 4: S. 493-515
Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bönnemann, Carsten G.; Neto, Osorio Abath; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araujo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; Goede, Christian de; Silva, Tamiris Borges da; Hathazi, Denisa; Dell'Aica, Margherita; Zahedi, Rene P.; Thiele, Simone; Müller, Juliane; Kingston, Helen; Müller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmüller, Hanns und Senderek, Jan
(2017):
Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
In: American Journal of Human Genetics, Bd. 100, Nr. 3: S. 523-536
[PDF, 2MB]
Kollipara, Laxmikanth; Buchkremer, Stephan; Coraspe, Jose Andres Gonzalez; Hathazi, Denisa; Senderek, Jan; Weis, Joachim; Zahedi, Rene P. und Roos, Andreas
(2017):
In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjogren syndrome.
In: Oncotarget, Bd. 8, Nr. 40: S. 68493-68516
Brauers, Eva; Roos, Andreas; Kollipara, Laxmikanth; Zahedi, René P.; Beckmann, Alf; Mohanadas, Nilane; Bauer, Hartmut; Häusler, Martin; Thoma, Stéphanie; Kress, Wolfram; Senderek, Jan und Weis, Joachim
(2017):
The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis.
In: Proteomics Clinical Applications, Bd. 11, Nr. 43132, 1600007