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Page 1
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics.
Wendlandt M, Erdmann H, Rost S, Lucas MC, Becker K, Kleinle S, Timmer M, Bier A, Wunderlich G, Wenninger S, Walter MC, Neuhann T, Schoser B, Holinski-Feder E, Abicht A. Wendlandt M, et al. Among authors: neuhann t. Neurol Genet. 2024 Dec 18;11(1):e200220. doi: 10.1212/NXG.0000000000200220. eCollection 2025 Feb. Neurol Genet. 2024. PMID: 39703464 Free PMC article.
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Kleinle S, Scholz V, Benet-Pagés A, Wohlfrom T, Gehling S, Scharf F, Rost S, Prott EC, Grinzinger S, Hotter A, Haug V, Niemeier S, Wiethoff-Ubrig L, Hagenacker T, Goldhahn K, von Moers A, Walter MC, Reilich P, Eggermann K, Kraft F, Kurth I, Erdmann H, Holinski-Feder E, Neuhann T, Abicht A. Kleinle S, et al. Among authors: neuhann t. J Neuromuscul Dis. 2023;10(5):835-846. doi: 10.3233/JND-221668. J Neuromuscul Dis. 2023. PMID: 37424474 Free PMC article.
Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.
Barseghyan H, Eisenreich D, Lindt E, Wendlandt M, Scharf F, Benet-Pages A, Sendelbach K, Neuhann T, Abicht A, Holinski-Feder E, Koehler U. Barseghyan H, et al. Among authors: neuhann t. Genes (Basel). 2024 Mar 7;15(3):342. doi: 10.3390/genes15030342. Genes (Basel). 2024. PMID: 38540401 Free PMC article.
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.
Witzel MGW, Gebhard C, Wenzel S, Kleier S, Eichhorn B, Lorenz P, von der Heyden L, Kuhn M, Luedeke M, Döcker M, Jüngling J, Schulte B, Hörtnagel K, Glaubitz R, Knippenberger S, Teubert A, Abicht A, Neuhann TM. Witzel MGW, et al. Among authors: neuhann tm. Front Neurol. 2023 Dec 6;14:1276238. doi: 10.3389/fneur.2023.1276238. eCollection 2023. Front Neurol. 2023. PMID: 38125836 Free PMC article.
Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays.
Hallermayr A, Keßler T, Fujera M, Liesfeld B, Bernstein S, von Ameln S, Schanze D, Steinke-Lange V, Pickl JMA, Neuhann TM, Holinski-Feder E. Hallermayr A, et al. Among authors: neuhann tm. Cancers (Basel). 2023 Oct 17;15(20):5024. doi: 10.3390/cancers15205024. Cancers (Basel). 2023. PMID: 37894392 Free PMC article.
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
Gangfuß A, Rating P, Ferreira T, Hentschel A, Marina AD, Kölbel H, Sickmann A, Abicht A, Kraft F, Ruck T, Böhm J, Schänzer A, Schara-Schmidt U, Neuhann TM, Horvath R, Roos A. Gangfuß A, et al. Among authors: neuhann tm. J Neuromuscul Dis. 2024;11(2):485-491. doi: 10.3233/JND-230181. J Neuromuscul Dis. 2024. PMID: 38217609 Free PMC article.
158 results