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Keritam,\ O.*\ ; Haas,\ P.*\ ; Klotz,\ S.*\ ; Kastrati,\ K.*\ ; Krenn,\ M.*\ ; Wagner,\ M.\ ; Hasenoehrl,\ T.*\ ; Weng,\ R.*\ ; Zulehner,\ G.*\ ; Kasprian,\ G.*\ ; Regelsberger,\ G.*\ ; Kiener,\ H.*\ ; Gelpi,\ E.*\ ; Zimprich,\ F.*\ ; Cetin,\ H.*\ ; Scherer,\ T.*\ ; Jengojan,\ S.*
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Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness.
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J. Neuromuscul. Dis., DOI: 10.1177/22143602251385048 (2025)
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Roos,\ A.*\ ; Häusler,\ M.*\ ; Kollipara,\ L.*\ ; Töpf,\ A.*\ ; Preusse,\ C.*\ ; Stucka,\ R.*\ ; Nolte,\ K.W.*\ ; Strom,\ T.*\ ; Berutti,\ R.\ ; Jiang,\ X.*\ ; Koll,\ R.*\ ; Lochmüller,\ H.*\ ; Schacht,\ S.M.*\ ; Zahedi,\ R.P.*\ ; Weis,\ J.*\ ; Senderek,\ J.*
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\HNRNPA1 de novo\ variant associated with early childhood onset, rapidly progressive generalized myopathy.
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J. Neuromuscul. Dis. 11, 1131-1137 (2024)
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Kleinle,\ S.*\ ; Scholz,\ V.*\ ; Benet-Pages,\ A.\ ; Wohlfrom,\ T.*\ ; Gehling,\ S.*\ ; Scharf,\ F.*\ ; Rost,\ S.*\ ; Prott,\ E.C.*\ ; Grinzinger,\ S.*\ ; Hotter,\ A.*\ ; Haug,\ V.*\ ; Niemeier,\ S.*\ ; Wiethoff-Ubrig,\ L.*\ ; Hagenacker,\ T.*\ ; Goldhahn,\ K.*\ ; von Moers,\ A.*\ ; Walter,\ M.*\ ; Reilich,\ P.*\ ; Eggermann,\ K.*\ ; Kraft,\ F.*\ ; Kurth,\ I.*\ ; Erdmann,\ H.*\ ; Holinski-Feder,\ E.*\ ; Neuhann,\ T.*\ ; Abicht,\ A.*
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Closing the Gap - Detection of 5q-spinal muscular atrophy by short-read Next-generation sequencing and unexpected results in a diagnostic patient cohort.
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J. Neuromuscul. Dis. 10, 835-846 (2023)
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Vill,\ K.*\ ; Blaschek,\ A.*\ ; Gläser,\ D.*\ ; Kuhn,\ M.*\ ; Haack,\ T.B.\ ; Alhaddad,\ B.\ ; Wagner,\ M.\ ; Kovács-Nagy,\ R.*\ ; Tacke,\ M.*\ ; Gerstl,\ L.*\ ; Schroeder,\ A.S.*\ ; Borggraefe,\ I.*\ ; Mueller,\ C.*\ ; Schlotter-Weigel,\ B.*\ ; Schoser,\ B.*\ ; Walter,\ M.C.*\ ; Müller-Felber,\ W.*
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Early-onset myopathies: Clinical findings, prevalence of subgroups and diagnostic approach in a single neuromuscular referral center in Germany.
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J. Neuromuscul. Dis. 4, 315-325 (2017)
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