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U

Ulrike Schara‐Schmidt

university hospital essen

20H-index
166Paper Count
1.5KCitation Count
Published Papers 51
Publication Date
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Transition from childhood to adulthood in neuromuscular disorders: results from the ERN EURO-NMD survey
errOrphanet Journal of Rare Diseases
IF3.5
err2025-12-09
err0
errOAAI
errTeresinha Evangelista; Houda Ali; Charlotte Handberg; Thomas Sejersen; Ros Quinlivan; Isabella Moroni; Marion Masingue; Susana Quijano-Roy; Antonio Atalaia; Ulrike Schara-Schmidt; Kristl G. Claeys
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Targeting Astrocytic Connexin 43 Mitigates Glutamate-Driven Motor Neuron Stress in Late-Onset Spinal Muscular Atrophy
errCells 2025, Vol. 14, Page 1852
IF5.2
err2025-11-25
err0
errOAAI
errSchahin Salmanian; Linda-Isabell Schmitt; Kai Christine Liebig; Stefanie Hezel; Andreas Roos; Ulrike Schara-Schmidt; Christoph Kleinschnitz; Markus Leo; Tim Hagenacker
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Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland—part I—systematic literature review and existing evidence
errJournal of Neuromuscular Diseases
IF3.4
err2025-11-24
err0
errOAAI
errClaudia Weiß; Katharina Vill; Matthias Baumann; Günther Bernert; Astrid Blaschek; Astrid Eisenkölbl; Marina Flotats-Bastardas; Johannes Friese; 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; Ulrike Schara-Schmidt; Gudrun Schreiber; Oliver Schwartz; Joachim Sproß; Georg M Stettner; Corinna Stoltenburg; Eva Stumpe; Regina Trollmann; Gert Wiegand; Ekkehard Wilichowski; Janbernd Kirschner; Andreas Ziegler
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Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe
errBRAIN
IF11.7
err2025-11-01
err1
PREAI
errFernandez-Eulate, Gorka; Gitiaux, Cyril; Thiele, Simone; Jungbluth, Heinz; Potulska-Chromik, Anna; Marini-Bettolo, Chiara; Davion, Jean Baptiste; Moris, German; Gallardo, Eduard; Olive, Montse; De Fuenmayor-fernandez De La Hoz, Carlos Pablo; Audic, Frederique; Isapof, Arnaud; Walter, Maggie C.; Angelini, Corrado; Bertini, Enrico; Schara-Schmidt, Ulrike; Claeys, Kristl G.; Dohrn, Maike F.; Dembele, Mohamed; Fer, Frederic; Brochier, Guy; Evangelista, Teresinha; Kostera-Pruszczyk, Anna; Attarian, Shahram; Straub, Volker; Dominguez-Gonzalez, Cristina; Vissing, John; Richard, Pascale; Metay, Corinne; Khraiche, Diala; Wahbi, Karim; Stojkovic, Tanya
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Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study
errJournal of Neuromuscular Diseases
IF3.4
err2025-09-12
err0
PREAI
errBenedikt Becker; Isabell Cordts; Jutta Becker; Rene Günther; Matthias Baumann; Günther Bernert; Astrid Eisenkölbl; Barbara Fiedler; Marina Flotats-Bastardas; Martin Fleger; Tim Hagenacker; Andreas Hahn; Elke Hobbiebrunken; Andrea Bevot; Jörg Jahnel; Jessika Johannsen; Christoph Kamm; Jan Christoph Koch; Cornelia Köhler; Heike Kölbel; Wolfgang Müller-Felber; Christoph Neuwirth; Barbara Plecko; Christian Stadler; Martin Smitka; Arpad Von Moers; Regina Trollmann; Markus Weiler; Andreas Ziegler; Susanne Goldbach; Kristina Probst-Schendzielorz; Hanns Lochmüller; Ulrike Schara-Schmidt; Maggie C Walter; Janbernd Kirschner; Brunhilde Wirth; Astrid Pechmann; Marcus Deschauer
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Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
errBrain
IF11.7
err2025-06-11
err0
PREAI
errMaureen Jacob; Heike Kölbel; Philip Harrer; Robert Kopajtich; Pinki Munot; Melanie T Achleitner; Susann Badmann; Melanie Brugger; Theresa Brunet; Gisèle Bonne; Marta Codina; Laura Ebner; Peyman Eshraghi; Katharina Eyring; Ahmad Shah Farhat; René G Feichtinger; Elisabeth Graf; Anna Marcé-Grau; Andreas Hahn; Henry Houlden; Ehsan Ghayoor Karimiani; Véronique Manel; Katharina Mayerhanser; Juliette Nectoux; Isabelle Nelson; Rahul Phadke; Holger Prokisch; Saeid Sadeghian; Alice Saparov; Anne Schänzer; Ulrike Schara-Schmidt; Julia Schmidt; Rahel Schuler; Caroline Sewry; Gholamreza Shariati; Silke Slanz; Dmitrii Smirnov; Rivka Sukenik-Halevy; Homa Tajsharghi; Mehran Beiraghi Toosi; Laura Trujillano; Joachim Weis; Louise C Wilson; Rabah Ben Yaou; Mina Zamani; Michael Zech; Jana Zschüntzsch; Uwe Kornak; David Goméz-Andrés; Reza Maroofian; Juliane Winkelmann; Andreas Roos; Felix Distelmaier; Johannes A Mayr; Matias Wagner
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Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle
errBRAIN
IF11.7
err2025-05-01
err0
errOAAI
errMalaichamy, Sivasankar; Idoux, Romane; Polavarapu, Kiran; Sikic, Katarina; Holla, Elisa; Thompson, Rachel; Spendiff, Sally; Schaenzer, Anne; Kuesters, Benno; Freeman, Emily; Hentschel, Andreas; O'Neil, Daniel; Carmona-Martinez, Ricardo; Dobelmann, Vera; Tucht, Calvin; Schouten, Meyke; Ruck, Tobias; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Ramadza, Danijela Petkovic; Jakovcevic, Antonia; Zigman, Tamara; Cavka, Mislav; Karcagi, Veronika; Herczegfalvi, Agnes; Laurie, Steven; Matalonga, Leslie; Beltran, Sergi; Horvath, Rita; Voermans, Nicol; Roos, Andreas; Baric, Ivo; Lochmueller, Hanns
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Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2025-04-24
err0
PREAI
errColombo, S.; Cowling, Bs; Eyler, L.; Nijkamp, D.; Freitag, C.; Thielemans, L.; Bouman, K.; Baets, J.; Vissing, J.; Quinlivan, R.; Guglieri, M.; Montagnese, F.; Schara-Schmidt, U.; Dhawan, A.; Lawlor, Mw; Voermans, N. C.
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Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5
errFRONTIERS IN MOLECULAR NEUROSCIENCE
IF3.8
err2025-02-20
err0
errOAAI
errOeztuerk, Menekse; Herebian, Diran; Dipali, Kale; Hentschel, Andreas; Rademacher, Nina; Kraft, Florian; Horvath, Rita; Distelmaier, Felix; Meuth, Sven G.; Ruck, Tobias; Schara-Schmidt, Ulrike; Roos, Andreas
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Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
errACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
err2025-02-13
err0
errOAAI
errDella Marina, Adela; Koutsoulidou, Andrie; Natera-de Benito, Daniel; Tykocinski, Lars-Oliver; Tomazou, Marios; Georgiou, Kristia; Laner, Andreas; Koelbel, Heike; Nascimento, Andres; Ortez, Carlos; Abicht, Angela; Thakur, Basant Kumar; Lochmuller, Hanns; Phylactou, Leonidas A.; Ruck, Tobias; Schara-Schmidt, Ulrike; Kale, Dipali; Hentschel, Andreas; Roos, Andreas
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Safety and efficacy of tamoxifen in non-ambulant patients with Duchenne muscular dystrophy: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial (TAMDMD Group B)
errNEUROMUSCULAR DISORDERS
IF2.8
err2025-02-01
err1
errOAAI
errHenzi, Bettina C.; Putananickal, Niveditha; Schmidt, Simone; Nagy, Sara; Rubino-Nacht, Daniela; Schaedelin, Sabine; Amthor, Helge; Childs, Anne-Marie; Deconinck, Nicolas; Horrocks, Iain; Opstal, Saskia Houwen-van; Laugel, Vincent; Lobato, Mercedes Lopez; Osorio, Andres Nascimento; Schara-Schmidt, Ulrike; Spinty, Stefan; von Moers, Arpad; Lawrence, Fiona; Hafner, Patricia; Dorchies, Olivier M.; Fischer, Dirk
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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
errOBSTETRICAL & GYNECOLOGICAL SURVEY
IF3.6
err2024-12-01
err0
PREAI
errSchwartz, Oliver; Vill, Katharina; Pfaffenlehner, Michelle; Behrens, Max; Weiss, Claudia; Johannsen, Jessika; Friese, Johannes; Hahn, Andreas; Ziegler, Andreas; Illsinger, Sabine; Smitka, Martin; von Moers, Arpad; Koelbel, Heike; Schreiber, Gudrun; Kaiser, Nadja; Wilichowski, Ekkehard; Flotats-Bastardas, Marina; Husain, Ralf A.; Baumann, Matthias; Koehler, Cornelia; Trollmann, Regina; Schwerin-Nagel, Annette; Eisenkoelbl, Astrid; Schimmel, Mareike; Fleger, Martin; Kauffmann, Birgit; Wiegand, Gert; Baumgartner, Manuela; Rauscher, Christian; Cirak, Sebahattin; Glaeser, Dieter; Bernert, Guenther; Hagenacker, Tim; Goldbach, Susanne; Probst-Schendzielorz, Kristina; Lochmueller, Hanns; Mueller-Felber, Wolfgang; Schara-Schmidt, Ulrike; Walter, Maggie C.; Kirschner, Janbernd; Pechmann, Astrid; SMARTCARE Study Group
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Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint
errSCIENTIFIC REPORTS
IF3.9
err2024-11-29
err1
errOAAI
errServais, Laurent; Strijbos, Paul; Poleur, Margaux; Mirea, Andrada; Butoianu, Nina; Sansone, Valeria A.; Vuillerot, Carole; Schara-Schmidt, Ulrike; Scoto, Mariacristina; Seferian, Andreea M.; Previtali, Stefano C.; Tulinius, Mar; Nascimento, Andres; Furlong, Pat; Singh, Teji; Dreghici, Roxana Donisa; Goemans, Nathalie; Mercuri, Eugenio; Straub, Volker; Ormazabal, Maitea Guridi; Braid, Jessica; Muntoni, Francesco; Tricot, Alexis; Annoussamy, Melanie; Eggenspieler, Damien
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Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes
errBIOMEDICINES
IF3.9
err2024-11-29
err1
errOAAI
errNeuhoff, Katja; Kilicarslan, Ozge Aksel; Preusse, Corinna; Zaum, Ann-Kathrin; Koelbel, Heike; Lochmueller, Hanns; Schara-Schmidt, Ulrike; Polavarapu, Kiran; Roos, Andreas; Gangfuss, Andrea
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AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial
errNATURE MEDICINE
IF50
err2024-10-09
err3
errOAAI
errMendell, Jerry R.; Muntoni, Francesco; McDonald, Craig M.; Mercuri, Eugenio M.; Ciafaloni, Emma; Komaki, Hirofumi; Leon-Astudillo, Carmen; Nascimento, Andres; Proud, Crystal; Schara-Schmidt, Ulrike; Veerapandiyan, Aravindhan; Zaidman, Craig M.; Guridi, Maitea; Murphy, Alexander P.; Reid, Carol; Wandel, Christoph; Asher, Damon R.; Darton, Eddie; Mason, Stefanie; Potter, Rachael A.; Singh, Teji; Zhang, Wenfei; Fontoura, Paulo; Elkins, Jacob S.; Rodino-Klapac, Louise R.
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Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant
errJOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
IF3
err2024-07-29
err1
errOAAI
errDella Marina, Adela; Hentschel, Andreas; Stenzel, Martin; Schara-Schmidt, Ulrike; Osmanovic, Alma; Ruck, Tobias; Grueneboom, Anika; Roebisch, Luisa; Beygo, Jasmin; Koelbel, Heike; Gangfuss, Andrea; Kaiser, Frank J.; Schaenzer, Anne; Kale, Dipali; Roos, Andreas
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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy
errJAMA PEDIATRICS
IF18
err2024-06-01
err12
PREAI
errSchwartz, Oliver; Vill, Katharina; Pfaffenlehner, Michelle; Behrens, Max; Weiss, Claudia; Johannsen, Jessika; Friese, Johannes; Hahn, Andreas; Ziegler, Andreas; Illsinger, Sabine; Smitka, Martin; von Moers, Arpad; Koelbel, Heike; Schreiber, Gudrun; Kaiser, Nadja; Wilichowski, Ekkehard; Flotats-Bastardas, Marina; Husain, Ralf A.; Baumann, Matthias; Koehler, Cornelia; Trollmann, Regina; Schwerin-Nagel, Annette; Eisenkoelbl, Astrid; Schimmel, Mareike; Fleger, Martin; Kauffmann, Birgit; Wiegand, Gert; Baumgartner, Manuela; Rauscher, Christian; Cirak, Sebahattin; Glaeser, Dieter; Bernert, Guenther; Hagenacker, Tim; Goldbach, Susanne; Probst-Schendzielorz, Kristina; Lochmueller, Hanns; Mueller-Felber, Wolfgang; Schara-Schmidt, Ulrike; Walter, Maggie C.; Kirschner, Janbernd; Pechmann, Astrid
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Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2024-05-13
err0
errOAAI
errOlimpio, Catarina; Paramonov, Ida; Matalonga, Leslie; Laurie, Steven; Schon, Katherine; Polavarapu, Kiran; Kirschner, Janbernd; Schara-Schmidt, Ulrike; Lochmueller, Hanns; Chinnery, Patrick F.; Horvath, Rita
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Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia
errBRAIN
IF11.7
err2024-04-18
err0
PREAI
errDistelmaier, Felix; Sezer, Abdullah; Helm, Christina; Waldmueller, Stephan; Seibt, Annette; Gangfuss, Andrea; Koelbel, Heike; Schara-Schmidt, Ulrike; Yuksel, Deniz; Talim, Beril; Mayatepek, Ertan; Nikolin, Stefan; Weis, Joachim; Roos, Andreas; Haack, Tobias B.
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Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2024-04-03
err0
errOAAI
errDella Marina, Adela; Hentschel, Andreas; Czech, Artur; Schara-Schmidt, Ulrike; Preusse, Corinna; Laner, Andreas; Abicht, Angela; Ruck, Tobias; Weis, Joachim; Choueiri, Catherine; Lochmueller, Hanns; Koelbel, Heike; Roos, Andreas
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Research Directions

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Co-authors
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