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H

Heike Kölbel

university hospital essen and duisburg-essen university

23H-index
143Paper Count
1.8KCitation Count
Published Papers 40
Publication Date
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Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report
errJournal of Clinical Medicine
IF2.9
err2025-12-05
err0
errOAAI
errOzge Aksel Kilicarslan; Andrea Gangfuß; Heike Kölbel; David Muhmann; Kiran Polavarapu; Rachel Thompson; Linda-Isabell Schmitt; Lola Lessard; Lei Chen; Astrid Eisenkölbl
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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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Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review
errJournal of Neuromuscular Diseases
IF3.4
err2025-11-18
err0
errOAAI
errBeatrice Labella; Guy Brochier; Maud Beuvin; Emmanuelle Lacene; Anais Chanut; Angeline Madelaine; Clemence Labasse; Aurelie Méneret; Andreas Roos; Heike Kölbel; Adrian Levine; Grace Yoon; Juliette Svahn; Francoise Bouhour; Natalie Streichenberger; Aleksandra Nadaj-Pakleza; Edoardo Malfatti; Guillaume Bassez; Anthony Behin; Pascal Laforet; Rocio Nur Villar-Quiles; Sarah Leonard-Louis; Thierry Maisonobe; Tanya Stojkovic; Bruno Eymard; Norma Beatriz Romero; Alessandro Padovani; Massimiliano Filosto; Denise Cassandrini; Valerie Biancalana; John Rendu; Kiran Polavarapu; Corinne Métay; Teresinha Evangelista
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A plain language summary of the SAPPHIRE clinical trial of apitegromab in children and young adults with spinal muscular atrophy
errExpert Review of Neurotherapeutics
IF3.4
err2025-11-13
err0
errOAAI
errThomas O. Crawford; Laurent Servais; Eugenio Mercuri; Heike Kölbel; Nancy Kuntz; Richard S. Finkel; Jena Krueger; Kaitlin Batley; Sally Dunaway Young; Jing L. Marantz; Guochen Song; Bert Yao; Guolin Zhao; Jose Rossello; Giridhar S. Tirucherai; Elena Stacy Mazzone; Russell J. Butterfield; Marta Gomez Garcia de la Banda; Andreea M. Seferian; Valeria A. Sansone; Liesbeth De Waele; W. Ludo van der Pol; Claude Cances; Astrid Pechmann; Basil T. Darras
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Charcot-Marie-Tooth–SORD: insights into pathology and pathophysiology from a human nerve biopsy series
errBrain
IF11.7
err2025-11-05
err0
PREAI
errMaike F Dohrn; Davide Pareyson; Chiara Pisciotta; Heike Kölbel; Andreas Roos; Gian Maria Fabrizi; Arman Cakar; Yesim Parman; Stephan Züchner; Joachim Weis
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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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Lessons learned from a muscle study in nail-patella syndrome
errOrphanet Journal of Rare Diseases
IF3.5
err2025-08-22
err0
PREAI
errLuisa Paul; Anne Schänzer; Christel Depienne; Andreas Hentschel; Nicolai Kohlschmidt; Ulrike Schara-Schmidt; Christopher Jannik Nelke; Andreas Roos; Heike Kölbel
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Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial
errlancet neurology
IF0
err2025-08-13
err0
PREAI
errThomas O Crawford; Laurent Servais; Eugenio Mercuri; Heike Kölbel; Nancy Kuntz; Richard S Finkel; Jena Krueger; Kaitlin Batley; Sally Dunaway Young; Jing L Marantz; Guochen Song; Bert Yao; Guolin Zhao; Jose Rossello; Giridhar S Tirucherai; Elena Stacy Mazzone; Russell J Butterfield; Marta Gomez Garcia de la Banda; Andreea M Seferian; Valeria A Sansone; Liesbeth De Waele; W Ludo van der Pol; Claude Cances; Astrid Pechmann; Basil T Darras
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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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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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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-02-01
err0
errOAAI
errLessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor
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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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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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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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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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Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy
errACTA NEUROPATHOLOGICA
IF9.3
err2024-03-12
err1
errOAAI
errRoos, Andreas; Schmitt, Linda-Isabell; Hansmann, Christina; Hezel, Stefanie; Salmanian, Schahin; Hentschel, Andreas; Meyer, Nancy; Marina, Adela Della; Koelbel, Heike; Kleinschnitz, Christoph; Schara-Schmidt, Ulrike; Leo, Markus; Hagenacker, Tim
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Complement and MHC patterns can provide the diagnostic framework for inflammatory neuromuscular diseases
errACTA NEUROPATHOLOGICA
IF9.3
err2024-01-12
err8
errOAAI
errNelke, Christopher; Schmid, Simone; Kleefeld, Felix; Schroeter, Christina B.; Goebel, Hans-Hilmar; Hoffmann, Sarah; Preusse, Corinna; Koelbel, Heike; Meuth, Sven G.; Ruck, Tobias; Stenzel, Werner
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A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2024-01-08
err2
errOAAI
errGangfuss, Andrea; Rating, Philipp; Ferreira, Tomas; Hentschel, Andreas; Della Marina, Adela; Koelbel, Heike; Sickmann, Albert; Abicht, Angela; Kraft, Florian; Ruck, Tobias; Boehm, Johann; Schaenzer, Anne; Schara-Schmidt, Ulrike; Neuhann, Teresa M.; Horvath, Rita; Roos, Andreas
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Research Directions

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Co-authors
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