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Items: 8

1.

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.

Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb.

2.

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.

Hum Mutat. 2020 Jan 30. doi: 10.1002/humu.23993. [Epub ahead of print]

PMID:
31999394
3.

Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.

Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, Kmieć T, Büchner B, Steele HE, Horvath R, Chinnery PF, Basu A, Küpper C, Neuhofer C, Kálmán B, Dušek P, Yapici Z, Wilson I, Zhao F, Zibordi F, Nardocci N, Aguilar C, Hayflick SJ, Spino M, Blamire AM, Hogarth P, Vichinsky E.

Lancet Neurol. 2019 Jul;18(7):631-642. doi: 10.1016/S1474-4422(19)30142-5.

PMID:
31202468
4.

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.

Front Aging Neurosci. 2018 Mar 15;10:45. doi: 10.3389/fnagi.2018.00045. eCollection 2018.

5.

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.

Hum Mol Genet. 2018 Apr 15;27(8):1343-1352. doi: 10.1093/hmg/ddy045.

PMID:
29432577
6.

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.

Neurology. 2017 Sep 5;89(10):1043-1049. doi: 10.1212/WNL.0000000000004311. Epub 2017 Aug 9.

PMID:
28794257
7.

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.

Eur J Endocrinol. 2015 Jul;173(1):43-52. doi: 10.1530/EJE-14-1164. Epub 2015 Apr 27.

PMID:
25916394
8.

Palliative radiotherapy of malignant melanoma with reactor fission neutron therapy (RENT): a prospective study.

Bremer M, Neuhofer C, Auberger T, Zimmermann FB, Kneschaurek P, Reuschel W, Molls M.

Radiat Oncol Investig. 1999;7(2):118-24.

PMID:
10333253

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