Lochmüller Lab

Aksel Kilicarslan, O, Gangfuß, A, Kölbel, H, Muhmann, D, Polavarapu, K, Thompson, R et al.. Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report. J Clin Med. 2025.14 (24) PMID:41464539

Voigt-Müller, C, Pfaffenlehner, M, Bernert, G, Cetin, H, Hagenacker, T, Kölbel, H et al.. Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry. Brain. 2026.149 (3)818-827 PMID:41431300

Weiß, C, Vill, K, Baumann, M, Bernert, G, Blaschek, A, Eisenkölbl, A et al.. 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. J Neuromuscul Dis. 2025. 22143602251387019 PMID:41284552

Becker, B, Cordts, I, Becker, J, Günther, R, Baumann, M, Bernert, G et al.. Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study. J Neuromuscul Dis. 2025. 22143602251370577 PMID:40938628

Lechner, C, Saxena, S, Lokhande, HA, Breu, M, Eisenkölbl, A, Karenfort, M et al.. A20 (TNFAIP3) Distinguishes Attack From Remission in Pediatric Patients With Monophasic MOGAD. Neurol Neuroimmunol Neuroinflamm. 2025.12 (5)e200452 PMID:40825157

Eisenkölbl, A, Lochmüller, H, Carter, MT, Hamilton, LE, McMillan, HJ. Congenital-onset MLASA2 from a novel YARS2 variant: A literature review. J Neuromuscul Dis. 2025. 22143602251369227 PMID:40808490

Weiß, C, Becker, LL, Friese, J, Blaschek, A, Hahn, A, Illsinger, S et al.. Efficacy 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 Reg Health Eur. 2024.47 101092 PMID:39434961

Peternell, A, Lechner, C, Breu, M, Preisel, M, Schimmel, M, Eisenkölbl, A et al.. Blood parameters in pediatric myelin oligodendrocyte glycoprotein antibody-associated disorders. Eur J Paediatr Neurol. 2024.50 86-95 PMID:38705015

Schwartz, O, Vill, K, Pfaffenlehner, M, Behrens, M, Weiß, C, Johannsen, J et al.. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial. JAMA Pediatr. 2024.178 (6)540-547 PMID:38587854

Pühringer, M, Eisenkölbl, A, Gröppel, G. Corrigendum to "Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1". Mol Genet Metab Rep. 2024.38 101039 PMID:38469095