PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Keritam, O.* et al. Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness. J. Neuromuscul. Dis., DOI: 10.1177/22143602251385048 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=75826&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=75826&la=de Thu, 23 Oct 2025 00:00:00 +0000 <![CDATA[Krenn, M.* et al. AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders. J. Neuromuscul. Dis., DOI: 10.1177/22143602251370957:22143602251370957 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=75465&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=75465&la=de Tue, 18 Nov 2025 00:00:00 +0000 <![CDATA[Roos, A.* et al. HNRNPA1 de novo variant associated with early childhood onset, rapidly progressive generalized myopathy. J. Neuromuscul. Dis. 11, 1131-1137 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=71443&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=71443&la=de Fri, 27 Sep 2024 00:00:00 +0000 <![CDATA[Kleinle, S.* et al. Closing the Gap - Detection of 5q-spinal muscular atrophy by short-read Next-generation sequencing and unexpected results in a diagnostic patient cohort. J. Neuromuscul. Dis. 10, 835-846 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68133&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68133&la=de Fri, 06 Oct 2023 00:00:00 +0000 <![CDATA[Vill, K.* et al. Early-onset myopathies: Clinical findings, prevalence of subgroups and diagnostic approach in a single neuromuscular referral center in Germany. J. Neuromuscul. Dis. 4, 315-325 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53010&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53010&la=de Wed, 21 Feb 2018 00:00:00 +0000