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Page 1
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: cetin h. J Neurol. 2024 Feb 13. doi: 10.1007/s00415-023-12178-z. Online ahead of print. J Neurol. 2024. PMID: 38349561 No abstract available.
Multifocal motor neuropathy as a mimic of amyotrophic lateral sclerosis: Serum neurofilament light chain as a reliable diagnostic biomarker.
Kleinveld VEA, Keritam O, Horlings CGC, Cetin H, Wanschitz J, Hotter A, Zirch LS, Zimprich F, Topakian R, Müller P, Oel D, Quasthoff S, Erdler M, Rauschka H, Grinzinger S, Jecel J, Gaulhofer P, Castek B, Stadler K, Löscher WN. Kleinveld VEA, et al. Among authors: cetin h. Muscle Nerve. 2024 Feb 9. doi: 10.1002/mus.28054. Online ahead of print. Muscle Nerve. 2024. PMID: 38334356
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M, Wagner M, Zulehner G, Weng R, Jäger F, Keritam O, Sener M, Brücke C, Milenkovic I, Langer A, Buchinger D, Habersam R, Mayerhanser K, Brugger M, Brunet T, Jacob M, Graf E, Berutti R, Cetin H, Hoefele J, Winkelmann J, Zimprich F, Rath J. Krenn M, et al. Among authors: cetin h. J Neurol. 2023 Dec 21. doi: 10.1007/s00415-023-12101-6. Online ahead of print. J Neurol. 2023. PMID: 38127101
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: cetin h. J Neurol. 2023 Dec;270(12):5849-5865. doi: 10.1007/s00415-023-11862-4. Epub 2023 Aug 21. J Neurol. 2023. PMID: 37603075 Free PMC article.
Analysis of co-medication in people with dementia.
Wurm R, Parvizi T, Goeschl S, Untersteiner H, Silvaieh S, Stamm T, Cetin H, Reichardt B, Stögmann E. Wurm R, et al. Among authors: cetin h. Eur J Neurol. 2023 Apr;30(4):823-830. doi: 10.1111/ene.15675. Epub 2023 Jan 25. Eur J Neurol. 2023. PMID: 36632031
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Frohne A, Koenighofer M, Cetin H, Nieratschker M, Liu DT, Laccone F, Neesen J, Nemec SF, Schwarz-Nemec U, Schoefer C, Avraham KB, Frei K, Grabmeier-Pfistershammer K, Kratzer B, Schmetterer K, Pickl WF, Parzefall T. Frohne A, et al. Among authors: cetin h. Hum Genet. 2023 Aug;142(8):1077-1089. doi: 10.1007/s00439-022-02506-0. Epub 2022 Nov 29. Hum Genet. 2023. PMID: 36445457 Free PMC article.
C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients.
König T, Wurm R, Parvizi T, Silvaieh S, Hotzy C, Cetin H, Klotz S, Gelpi E, Bancher C, Benke T, Dal-Bianco P, Defrancesco M, Fischer P, Marksteiner J, Sutterlüty H, Ransmayr G, Schmidt R, Zimprich A, Stögmann E. König T, et al. Among authors: cetin h. Neurobiol Dis. 2022 Dec;175:105927. doi: 10.1016/j.nbd.2022.105927. Epub 2022 Nov 13. Neurobiol Dis. 2022. PMID: 36379394 Free article.
A case of primary optic pathway demyelination caused by oncocytic oligodendrogliopathy of unknown origin.
Hametner S, Silvaieh S, Thurnher M, Dal-Bianco A, Cetin H, Ponleitner M, Zebenholzer K, Pemp B, Trattnig S, Rössler K, Berger T, Lassmann H, Hainfellner JA, Bsteh G. Hametner S, et al. Among authors: cetin h. Acta Neuropathol Commun. 2022 Nov 8;10(1):160. doi: 10.1186/s40478-022-01462-0. Acta Neuropathol Commun. 2022. PMID: 36348444 Free PMC article.
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, Laccone F, Iglseder S, Marte S, Baumgartner M, Eisenkölbl A, Liechtenstein C, Rudnik S, Quasthoff S, Grinzinger S, Spenger J, Wortmann SB, Löscher WN, Zimprich F, Kellersmann A, Rappold M, Bernert G, Freilinger M, Cetin H. Krenn M, et al. Among authors: cetin h. J Neurol. 2023 Feb;270(2):909-916. doi: 10.1007/s00415-022-11440-0. Epub 2022 Oct 29. J Neurol. 2023. PMID: 36308527 Free PMC article.
37 results