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Page 1
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: cetin h. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M, Tomschik M, Wagner M, Zulehner G, Weng R, Rath J, Klotz S, Gelpi E, Bsteh G, Keritam O, Colonna I, Paternostro C, Jäger F, Lindeck-Pozza E, Iglseder S, Grinzinger S, Schönfelder M, Hohenwarter C, Freimüller M, Embacher N, Wanschitz J, Topakian R, Töpf A, Straub V, Quasthoff S, Zimprich F, Löscher WN, Cetin H. Krenn M, et al. Among authors: cetin h. Eur J Neurol. 2022 Jun;29(6):1815-1824. doi: 10.1111/ene.15306. Epub 2022 Mar 10. Eur J Neurol. 2022. PMID: 35239206 Free PMC article.
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.
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 Apr;271(4):2147-2148. doi: 10.1007/s00415-023-12178-z. J Neurol. 2024. PMID: 38349561 Free PMC article. No abstract available.
Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation.
Parvizi T, Klotz S, Keritam O, Caliskan H, Imhof S, König T, Haider L, Traub-Weidinger T, Wagner M, Brunet T, Brugger M, Zimprich A, Rath J, Stögmann E, Gelpi E, Cetin H. Parvizi T, et al. Among authors: cetin h. Ann Clin Transl Neurol. 2024 Apr 30. doi: 10.1002/acn3.52075. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38689506 Free article.
Frequency and clinical features of treatment-refractory myasthenia gravis.
Rath J, Brunner I, Tomschik M, Zulehner G, Hilger E, Krenn M, Paul A, Cetin H, Zimprich F. Rath J, et al. Among authors: cetin h. J Neurol. 2020 Apr;267(4):1004-1011. doi: 10.1007/s00415-019-09667-5. Epub 2019 Dec 11. J Neurol. 2020. PMID: 31828474 Free PMC article.
Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs.
Cetin H, Webster R, Liu WW, Nagaishi A, Koneczny I, Zimprich F, Maxwell S, Cossins J, Beeson D, Vincent A. Cetin H, et al. J Neurol Neurosurg Psychiatry. 2020 May;91(5):526-532. doi: 10.1136/jnnp-2019-322640. Epub 2020 Mar 12. J Neurol Neurosurg Psychiatry. 2020. PMID: 32165373 Free PMC article.
253 results