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1.
Roos, A.* et al.: HNRNPA1 de novo variant associated with early childhood onset, rapidly progressive generalized myopathy. J. Neuromuscul. Dis. 11, 1131-1137 (2024)
2.
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)
3.
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)
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