Ulrike Schara - Publications, H-index & Citations

Ulrike Schara

university duisburg-essen

56H指数

441论文数

8.7K被引数

收录论文 52

发表时间

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland – part II – expert based recommendations for surveillance and management of side-effects 德国、奥地利和瑞士关于使用onasemnogene abeparvovec进行脊髓性肌萎缩基因治疗的德尔菲共识——第二部分——基于专家的建议：副作用监测和管理

Journal of Neuromuscular Diseases

IF3.4

2026-08-27

PREAI

Andreas Ziegler; Claudia Weiß; Katharina Vill; Matthias Baumann; Günther Bernert; Astrid Blaschek; Astrid Eisenkölbl; Marina Flotats-Bastardas; Johannes Friese; Dorothea Holzwarth; Claudia Ganter; Klaus Goldhahn; Andreas Hahn; Maja von der Hagen; Hans Hartmann; Oswald Hasselmann; Veronka Horber; Ralf A Husain; Sabine Illsinger; David Jacquier; Jessika Johannsen; Cornelia Köhler; Heike Kölbel; Michael Kolodzig; Andrea Klein; Astrid Pechmann; Arpad von Moers; Wolfgang Müller-Felber; Christian Rauscher; Gudrun Schreiber; Oliver Schwartz; Joachim Sproß; Georg M Stettner; Corinna Stoltenburg; Eva Stumpe; Regina Trollmann; Gerd Wiegand; Ekkehard Wilichowski; Ulrike Schara; Janbernd Kirschner; Carsten Müller-Tidow; Georg Friedrich Hoffmann; Peter Dreger; Maria-Luisa Schubert; Andreas Ziegler; Stefan Kölker; Thomas Opladen; Ulrike Schara-Schmidt; Nina Rademacher; Bastian von Tresckow; Christian Reinhardt; Marcel Teichert; Veronka Horber; Hendrik Rosewich; Samuel Gröschel; Wolfgang Bethge; Claudia Lengerke; Bärbel Entrich; Claudia Weiß; Angela M. Kaindl; Joanna Schneider; Lisa-Valerie Bitzan; Antonia Busse; Lars Bullinger; Olaf Penack; Maja von der Hagen; Martin Smitka; Josephine Schädlich; Malte von Bonin; Martin Bornhäuser; Raphael Teipel; Astrid Blaschek; Katharina Vill; Wolfgang Müller-Felber; Moritz Tacke; Fabian Hauck; Christoph Klein; Veit Bücklein; Marion Subklewe; Michael von Bergwelt; Regina Trollmann; Fabian Müller; Andreas Mackensen; Dennis Bene; Jessika Johannsen; Ania C. Muntau; Jonas Denecke; Francis Ayuketang Ayuk; Silke Heidenreich; Gesine Bug; Hubert Serve; Julia Riemann; Eva Wagner-Drouet; Beate Hauptrock; Oliver Schwartz; Hélène Guillemot; Heymut Omran; Simon Call; Matthias Stelljes; Georg Lenz; Anna Ossami Saidy; Bertram Glaß; Aleksandar Radujkovic; Sascha Dietrich; Ben-Niklas Bärmann; Friedrich Stölzel; Claudia Baldus; Natalie Schub; Sabine Illsinger; Dieter Haffner; Hans Hartmann; Astrid Pechmann; Janbernd Kirschner; Lutz Hein; Dorothea Holzwarth; Alexandra Klotz; Franziska Busch; Lisa Allenstein; Gabriel Dworschak; Andreas A. Hahn; Bernd A. Neubauer; Marina Flotats-Bastardas; Michael Zemlin; Klaus Goldhahn; Arpad von Moers; Ellen Knierim; Christian Friese; Gudrun Schreiber; Bernd Wilken; Cornelia Köhler; Thomas Lücke; Christoph Hanefeld; Sebahattin Cirak; Antje Westhoff; Kübra Erden; Lisa Benedikter; Sandra Zinke; Gerald Wulf; Wolfram Jung; Justin Hasenkamp

Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study

Journal of Neuromuscular Diseases

IF3.4

2026-08-14

PREAI

Olga Prikhodko; Tatyana A. Vetter; Sophie Colombo; Chris Freitag; Dominique Nijkamp; Louise Eyler; Leen Thielemans; Jonathan Baets; Mads Stemmerik; John Vissing; Ros Quinlivan; Michela Guglieri; Federica Montagnese; Benedikt Schoser; Frederik Braun; Ulrike Schara; Kris E. Leeuwenberg; Nens van Alfen; Michael W. Lawlor; Belinda S Cowling; Nicol C. Voermans

Efficacy fi cacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study

LANCET REGIONAL HEALTH-EUROPE

IF13

2024-12-01

OAAI

Weiss, Claudia; Becker, Lena-Luise; Friese, Johannes; Blaschek, Astrid; Hahn, Andreas; Illsinger, Sabine; Schwartz, Oliver; Bernert, Guenther; von der Hagen, Maja; Husain, Ralf A.; Goldhahn, Klaus; Kirschner, Janbernd; Pechmann, Astrid; Flotats-Bastardas, Marina; Schreiber, Gudrun; Schara, Ulrike; Plecko, Barbara; Trollmann, Regina; Horber, Veronka; Wilichowski, Ekkehard; Baumann, Matthias; Klein, Andrea; Eisenkoelbl, Astrid; Koehler, Cornelia; Stettner, Georg M.; Cirak, Sebahattin; Hasselmann, Oswald; Kaindl, Angela M.; Garbade, Sven F.; Johannsen, Jessika; Ziegler, Andreas

Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany 新生儿筛查SMA-从试点项目到德国的全国筛查

JOURNAL OF NEUROMUSCULAR DISEASES

IF3.4

2022-11-28

OAAI

Muller-Felber, Wolfgang; Blaschek, Astrid; Schwartz, Oliver; Glaser, Dieter; Nennstiel, Uta; Brockow, Inken; Wirth, Brunhilde; Burggraf, Siegfried; Roschinger, Wulf; Becker, Marc; Durner, Jurgen; Eggermann, Katja; Kolbel, Heike; Muller, Christine; Hannibal, Iris; Olgemoller, Bernd; Schara, Ulrike; von Moers, Arpad; Trollmann, Regina; Johannssen, Jessika; Ziegler, Andreas; Cirak, Sebahattin; Hahn, Andreas; von Der Hagen, Maja; Weiss, Claudia; Schreiber, Gudrun; Flotats-Bastardas, Marina; Hartmann, Hans; Illsinger, Sabine; Pechmann, Astrid; Horber, Veronka; Kirschner, Jan; Kohler, Cornelia; Winter, Benedikt; Friese, Johannes; Vill, Katharina

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

BRAIN

IF11.7

2022-02-11

OAAI

Jennings, Matthew J.; Kagiava, Alexia; Vendredy, Leen; Spaulding, Emily L.; Stavrou, Marina; Hathazi, Denisa; Gruneboom, Anika; De Winter, Vicky; Gess, Burkhard; Schara, Ulrike; Pogoryelova, Oksana; Lochmuller, Hanns; Borchers, Christoph H.; Roos, Andreas; Burgess, Robert W.; Timmerman, Vincent; Kleopa, Kleopas A.; Horvath, Rita

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy 基于1h-nmr的代谢谱可识别5q脊髓性肌萎缩症的无创诊断和预测性尿液指纹

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2021-10-20

OAAI

Saffari, Afshin; Cannet, Claire; Blaschek, Astrid; Hahn, Andreas; Hoffmann, Georg F.; Johannsen, Jessika; Kirsten, Romy; Kockaya, Musa; Kolker, Stefan; Muller-Felber, Wolfgang; Roos, Andreas; Schafer, Hartmut; Schara, Ulrike; Spraul, Manfred; Trefz, Friedrich K.; Vill, Katharina; Wick, Wolfgang; Weiler, Markus; Okun, Jurgen G.; Ziegler, Andreas

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

NATURE MEDICINE

IF50

2021-05-31

101

OAAI

Mohassel, Payam; Donkervoort, Sandra; Lone, Museer A.; Nalls, Matthew; Gable, Kenneth; Gupta, Sita D.; Foley, A. Reghan; Hu, Ying; Saute, Jonas Alex Morales; Moreira, Ana Lucila; Kok, Fernando; Introna, Alessandro; Logroscino, Giancarlo; Grunseich, Christopher; Nickolls, Alec R.; Pourshafie, Naemeh; Neuhaus, Sarah B.; Saade, Dimah; Gangfuss, Andrea; Koelbel, Heike; Piccus, Zoe; Le Pichon, Claire E.; Fiorillo, Chiara; Ly, Cindy V.; Topf, Ana; Brady, Lauren; Specht, Sabine; Zidell, Aliza; Pedro, Helio; Mittelmann, Eric; Thomas, Florian P.; Chao, Katherine R.; Konersman, Chamindra G.; Cho, Megan T.; Brandt, Tracy; Straub, Volker; Connolly, Anne M.; Schara, Ulrike; Roos, Andreas; Tarnopolsky, Mark; Hoke, Ahmet; Brown, Robert H.; Lee, Chia-Hsueh; Hornemann, Thorsten; Dunn, Teresa M.; Bonnemann, Carsten G.

International retrospective natural history study of LMNA-related congenital muscular dystrophy

BRAIN COMMUNICATIONS

IF4.5

2021-04-11

OAAI

Ben Yaou, Rabah; Yun, Pomi; Dabaj, Ivana; Norato, Gina; Donkervoort, Sandra; Xiong, Hui; Nascimento, Andres; Maggi, Lorenzo; Sarkozy, Anna; Monges, Soledad; Bertoli, Marta; Komaki, Hirofumi; Mayer, Michele; Mercuri, Eugenio; Zanoteli, Edmar; Castiglioni, Claudia; Marini-Bettolo, Chiara; D'Amico, Adele; Deconinck, Nicolas; Desguerre, Isabelle; Erazo-Torricelli, Ricardo; Gurgel-Giannetti, Juliana; Ishiyama, Akihiko; Kleinsteuber, Karin S.; Lagrue, Emmanuelle; Laugel, Vincent; Mercier, Sandra; Messina, Sonia; Politano, Luisa; Ryan, Monique M.; Sabouraud, Pascal; Schara, Ulrike; Siciliano, Gabriele; Vercelli, Liliana; Voit, Thomas; Yoon, Grace; Alvarez, Rachel; Muntoni, Francesco; Pierson, Tyler M.; Gomez-Andres, David; Foley, A. Reghan; Quijano-Roy, Susana; Bonnemann, Carsten G.; Bonne, Gisele

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2021-03-31

103

OAAI

Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Glaeser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Roeschinger, Wulf; Becker, Marc; Czibere, Ludwig; Durner, Jurgen; Eggermann, Katja; Olgemoeller, Bernhard; Harms, Erik; Schara, Ulrike; Koelbel, Heike; Mueller-Felber, Wolfgang

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2021-01-22

OAAI

Meyer, Robert; Begemann, Matthias; Huebner, Christian Thomas; Dey, Daniela; Kuechler, Alma; Elgizouli, Magdeldin; Schara, Ulrike; Ambrozaityte, Laima; Burnyte, Birute; Schroeder, Carmen; Kenawy, Asmaa; Kroisel, Peter; Demuth, Stephanie; Fekete, Gyorgy; Opladen, Thomas; Elbracht, Miriam; Eggermann, Thomas

Bi-allelic truncating mutations in VWA1 cause neuromyopathy

BRAIN

IF11.7

2021-01-18

OAAI

Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas; Haack, Tobias B.

Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2020-12-24

OAAI

Annoussamy, Melanie; Seferian, Andreea M.; Daron, Aurore; Pereon, Yann; Cances, Claude; Vuillerot, Carole; De Waele, Liesbeth; Laugel, Vincent; Schara, Ulrike; Gidaro, Teresa; Lilien, Charlotte; Hogrel, Jean-Yves; Carlier, Pierre; Fournier, Emmanuel; Lowes, Linda; Gorni, Ksenija; Ly-Le Moal, Myriam; Hellbach, Nicole; Seabrook, Timothy; Czech, Christian; Hermosilla, Ricardo; Servais, Laurent

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency 代谢转变是可逆婴儿呼吸链缺陷恢复的基础

EMBO JOURNAL

IF8.3

2020-10-31

OAAI

Hathazi, Denisa; Griffin, Helen; Jennings, Matthew J.; Giunta, Michele; Powell, Christopher; Pearce, Sarah F.; Munro, Benjamin; Wei, Wei; Boczonadi, Veronika; Poulton, Joanna; Pyle, Angela; Calabrese, Claudia; Gomez-Duran, Aurora; Schara, Ulrike; Pitceathly, Robert D. S.; Hanna, Michael G.; Joost, Kairit; Cotta, Ana; Paim, Julia Filardi; Navarro, Monica Machado; Duff, Jennifer; Mattmann, Andre; Chapman, Kristine; Servidei, Serenella; Della Marina, Adela; Uusimaa, Johanna; Roos, Andreas; Mootha, Vamsi; Hirano, Michio; Tulinius, Mar; Giri, Manta; Hoffmann, Eric P.; Lochmuller, Hanns; DiMauro, Salvatore; Minczuk, Michal; Chinnery, Patrick F.; Muller, Juliane S.; Horvath, Rita

The clinical, histologic, and genotypic spectrum ofSEPN1-related myopathy A case series

NEUROLOGY

IF8.5

2020-09-15

OAAI

Villar-Quiles, Rocio N.; von Der Hagen, Maja; Metay, Corinne; Gonzalez, Victoria; Donkervoort, Sandra; Bertini, Enrico; Castiglioni, Claudia; Chaigne, Denys; Colomer, Jaume; Cuadrado, Maria Luz; de Visser, Marianne; Desguerre, Isabelle; Eymard, Bruno; Goemans, Nathalie; Kaindl, Angela; Lagrue, Emmanuelle; Lutschg, Jurg; Malfatti, Edoardo; Mayer, Michele; Merlini, Luciano; Orlikowski, David; Reuner, Ulrike; Salih, Mustafa A.; Schlotter-Weigel, Beate; Stoetter, Mechthild; Straub, Volker; Topaloglu, Haluk; Urtizberea, J. Andoni; van der Kooi, Anneke; Wilichowski, Ekkehard; Romero, Norma B.; Fardeau, Michel; Bonnemann, Carsten G.; Estournet, Brigitte; Richard, Pascale; Quijano-Roy, Susana; Schara, Ulrike; Ferreiro, Ana

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

BRAIN

IF11.7

2020-09-01

OAAI

Alonso-Perez, Jorge; Gonzalez-Quereda, Lidia; Bello, Luca; Guglieri, Michela; Straub, Volker; Gallano, Pia; Semplicini, Claudio; Pegoraro, Elena; Zangaro, Vittoria; Nascimento, Andres; Ortez, Carlos; Comi, Giacomo Pietro; ten Dam, Leroy; De Visser, Marianne; van der Kooi, A. J.; Garrido, Cristina; Santos, Manuela; Schara, Ulrike; Gangfuss, Andrea; Lokken, Nicoline; Storgaard, Glesper Helbo; Vissing, John; Schoser, Benedikt; Dekomien, Gabriele; Udd, Bjarne; Palmio, Johanna; D'Amico, Adele; Politano, Luisa; Nigro, Vincenzo; Bruno, Claudio; Panicucci, Chiara; Sarkozy, Anna; Abdel-Mannan, Omar; Alonsolimenez, Alicia; Claeys, Kristl G.; Gomez-Andres, David; Munell, Francina; Costa-Comellas, Laura; Haberlova, Jana; Rohlenova, Marie; Elke, De Vos; De Bleecker, Jan L.; Dominguez-Gonzalez, Cristina; Tasca, Giorgio; Weiss, Claudia; Deconinck, Nicolas; Fernandez-Torron, Roberto; de Munain, Adolfo Lopez; Camacho-Salas, Ana; Melegh, Bela; Hadzsiev, Kinga; Leonardis, Lea; Koritnik, Blaz; Garibaldi, Matteo; De Leon-Hernandez, Juan Carlos; Malfatti, Edoardo; Fraga-Bau, Arturo; Richard, Isabelle; Illa, Isabel; Diaz-Manera, Jordi

First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation inFLNC

HUMAN MUTATION

IF3.7

2020-07-11

OAAI

Koelbel, Heike; Roos, Andreas; van Der Ven, Peter F. M.; Evangelista, Teresinha; Nolte, Kay; Johnson, Katherine; Toepf, Ana; Wilson, Michael; Kress, Wolfram; Sickmann, Albert; Straub, Volker; Kollipara, Laxmikanth; Weis, Joachim; Fuerst, Dieter O.; Schara, Ulrike

Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?

JOURNAL OF NEUROMUSCULAR DISEASES

IF3.4

2020-02-29

OAAI

Mueller-Felber, Wolfgang; Vill, Katharina; Schwartz, Oliver; Glaeser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Roeschinger, Wulf; Becker, Marc; Durner, Juergen; Eggermann, Katja; Mueller, Christine; Hannibal, Iris; Olgemoeller, Bernd; Schara, Ulrike; Blaschek, Astrid; Koelbel, Heike

Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1

JOURNAL OF NEUROMUSCULAR DISEASES

IF3.4

2020-01-22

PREAI

Pechmann, Astrid; Baumann, Matthias; Bernert, Guenther; Flotats-Bastardas, Marina; Gruber-Sedlmayr, Ursula; von der Hagen, Maja; Hasselmann, Oswald; Hobbiebrunken, Elke; Horber, Veronka; Johannsen, Jessika; Kellersmann, Anna; Koehler, Cornelia; von Moers, Arpad; Mueller-Felber, Wolfgang; Plecko, Barbara; Reihle, Christof; Schlachter, Kurt; Schreiber, Gudrun; Schwartz, Oliver; Smitka, Martin; Steiner, Elisabeth; Stoltenburg, Corinna; Stueve, Burkhard; Theophil, Manuela; Weiss, Claudia; Wiegand, Gert; Wilichowski, Ekkehard; Winter, Benedikt; Wittmann, Wolfgang; Schara, Ulrike; Kirschner, Janbernd

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism

EBIOMEDICINE

IF10.8

2020-01-01

OAAI

Meinke, Peter; Kerr, Alastair R. W.; Czapiewski, Rafal; de Las Heras, Jose, I; Dixon, Charles R.; Harris, Elizabeth; Koelbel, Heike; Muntoni, Francesco; Schara, Ulrike; Straub, Volker; Schoser, Benedikt; Wehnert, Manfred; Schirmer, Eric C.

Evaluating the effect of long-term idebenone treatment on respiratory morbidity in patients with Duchenne muscular dystrophy (DMD)

EUROPEAN RESPIRATORY JOURNAL

IF21

2019-11-21

PREAI

Mayer, Oscar Henry; Leinonen, Mika; Servais, Laurent; Straathof, Chiara; Schara, Ulrike; Voit, Thomas; Mercuri, Eugenio; Buyse, Gunnar

研究方向