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Year Number of Results
1999 1
2015 1
2017 1
2018 2
2019 1
2020 6
2021 1
2022 0
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13 results
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Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.
Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group. Stendel C, et al. Among authors: neuhofer c. Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042921 Free PMC article.
The life in a gradient: calcium, the lncRNA SPRR2C and mir542/mir196a meet in the epidermis to regulate the aging process.
Breunig S, Wallner V, Kobler K, Wimmer H, Steinbacher P, Streubel MK, Bischof J, Duschl J, Neuhofer C, Gruber W, Aberger F, Breitenbach M, Russe E, Wechselberger G, Duranton A, Richter K, Rinnerthaler M. Breunig S, et al. Among authors: neuhofer c. Aging (Albany NY). 2021 Aug 2;13(15):19127-19144. doi: 10.18632/aging.203385. Epub 2021 Aug 2. Aging (Albany NY). 2021. PMID: 34339392 Free PMC article.
Sema3a plays a role in the pathogenesis of CHARGE syndrome.
Ufartes R, Schwenty-Lara J, Freese L, Neuhofer C, Möller J, Wehner P, van Ravenswaaij-Arts CMA, Wong MTY, Schanze I, Tzschach A, Bartsch O, Borchers A, Pauli S. Ufartes R, et al. Among authors: neuhofer c. Hum Mol Genet. 2018 Apr 15;27(8):1343-1352. doi: 10.1093/hmg/ddy045. Hum Mol Genet. 2018. PMID: 29432577
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T. Giordano I, et al. Among authors: neuhofer c. Neurology. 2017 Sep 5;89(10):1043-1049. doi: 10.1212/WNL.0000000000004311. Epub 2017 Aug 9. Neurology. 2017. PMID: 28794257 Clinical Trial.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F. Ascari G, et al. Among authors: neuhofer c. Hum Mutat. 2020 May;41(5):998-1011. doi: 10.1002/humu.23993. Epub 2020 Feb 12. Hum Mutat. 2020. PMID: 31999394 Free PMC article.
Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients - An Atlas-Based Volumetric MRI Study.
Schönecker S, Neuhofer C, Otto M, Ludolph A, Kassubek J, Landwehrmeyer B, Anderl-Straub S, Semler E, Diehl-Schmid J, Prix C, Vollmar C, Fortea J; Deutsches FTLD-Konsortium, Huppertz HJ, Arzberger T, Edbauer D, Feddersen B, Dieterich M, Schroeter ML, Volk AE, Fließbach K, Schneider A, Kornhuber J, Maler M, Prudlo J, Jahn H, Boeckh-Behrens T, Danek A, Klopstock T, Levin J. Schönecker S, et al. Among authors: neuhofer c. Front Aging Neurosci. 2018 Mar 15;10:45. doi: 10.3389/fnagi.2018.00045. eCollection 2018. Front Aging Neurosci. 2018. PMID: 29599716 Free PMC article.
Immunohistochemical expression of stem cell markers in pheochromocytomas/paragangliomas is associated with SDHx mutations.
Oudijk L, Neuhofer CM, Lichtenauer UD, Papathomas TG, Korpershoek E, Stoop H, Oosterhuis JW, Smid M, Restuccia DF, Robledo M, de Cubas AA, Mannelli M, Gimenez-Roqueplo AP, Dinjens WN, Beuschlein F, de Krijger RR. Oudijk L, et al. Among authors: neuhofer cm. Eur J Endocrinol. 2015 Jul;173(1):43-52. doi: 10.1530/EJE-14-1164. Epub 2015 Apr 27. Eur J Endocrinol. 2015. PMID: 25916394
13 results