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Items: 1 to 50 of 192

1.

Quasi-Mendelian paternal inheritance of mitochondrial DNA: A notorious artifact, or anticipated behavior?

Annis S, Fleischmann Z, Khrapko M, Franco M, Wasko K, Woods D, Kunz WS, Ellis P, Khrapko K.

Proc Natl Acad Sci U S A. 2019 Jul 16. pii: 201821436. doi: 10.1073/pnas.1821436116. [Epub ahead of print] No abstract available.

PMID:
31311874
2.

Replication fork rescue in mammalian mitochondria.

Torregrosa-Muñumer R, Hangas A, Goffart S, Blei D, Zsurka G, Griffith J, Kunz WS, Pohjoismäki JLO.

Sci Rep. 2019 Jun 19;9(1):8785. doi: 10.1038/s41598-019-45244-6.

3.

Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia.

Schlapakow E, Peeva V, Zsurka G, Jeub M, Wabbels B, Kornblum C, Kunz WS.

Neuromuscul Disord. 2019 May;29(5):358-367. doi: 10.1016/j.nmd.2019.02.009. Epub 2019 Feb 25.

PMID:
30962064
4.

A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.

Berghuis B, Stapleton C, Sonsma ACM, Hulst J, de Haan GJ, Lindhout D, Demurtas R; EpiPGX Consortium, Krause R, Depondt C, Kunz WS, Zara F, Striano P, Craig J, Auce P, Marson AG, Stefansson H, O'Brien TJ, Johnson MR, Sills GJ, Wolking S, Lerche H, Sisodiya SM, Sander JW, Cavalleri GL, Koeleman BPC, McCormack M.

Epilepsia Open. 2019 Jan 17;4(1):102-109. doi: 10.1002/epi4.12297. eCollection 2019 Mar.

5.

Retinoencephalopathy with occipital lobe epilepsy in an OPA-1 mutation carrier.

Nass RD, Hansen N, Quesada C, Rüber T, Kornblum C, Zsurka G, Hermann P, Becker A, Gärtner F, Hattingen E, Block W, Steidl E, Elger CE, Surges R, Kunz WS.

Seizure. 2019 Mar;66:1-3. doi: 10.1016/j.seizure.2019.01.029. Epub 2019 Jan 30. No abstract available.

PMID:
30738307
6.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Schulz H, Ruppert AK, Zara F, Madia F, Iacomino M, S Vari M, Balagura G, Minetti C, Striano P, Bianchi A, Marini C, Guerrini R, Weber YG, Becker F, Lerche H, Kapser C, Schankin CJ, Kunz WS, Møller RS, Oliver KL, Bellows ST, Mullen SA, Berkovic SF, Scheffer IE, Caglayan H, Ozbek U, Hoffmann P, Schramm S, Tsortouktzidis D, Becker AJ, Sander T.

Epilepsia. 2019 May;60(5):e31-e36. doi: 10.1111/epi.14657. Epub 2019 Feb 4.

PMID:
30719712
7.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium.

Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.

8.

Analysis of shared heritability in common disorders of the brain.

Brainstorm Consortium, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinger T, Ran C, Gordon SD, Borck G, Adams HHH, Lehtimäki T, Wedenoja J, Buring JE, Schürks M, Hrafnsdottir M, Hottenga JJ, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin NG, Montgomery GW, Kurki MI, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari MD, Belin AC, van den Maagdenberg AMJM, Zwart JA, Boomsma D, Eriksson N, Olesen J, Chasman DI, Nyholt DR, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino CB, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro TN, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz WS, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller RS, Molloy A, Ng PW, Oliver K, Privitera M, Radtke R, Ruppert AK, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya SM, Smith P, Sperling M, Striano P, Surges R, Thomas GN, Visscher F, Whelan CD, Zara F, Heinzen EL, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris HR, Sharma M, Ryten M, Mok KY, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen WM, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Boraska Perica V, Thornton LM, Huckins LM, William Rayner N, Lewis CM, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson JI, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker JH, O'Toole JK, Trace SE, Davis OSP, Helder SG, Ehrlich S, Herpertz-Dahlmann B, Danner UN, van Elburg AA, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick DM, Ripatti S, Andreassen OA, Espeseth T, Lundervold AJ, Steen VM, Pinto D, Scherer SW, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi KA, Mitchell J, Strober M, Bergen AW, Kaye W, Szatkiewicz JP, Cormand B, Ramos-Quiroga JA, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz MJ, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades RD, Banaschewski T, Franke B, Buitelaar JK, Arias Vasquez A, Doyle AE, Reif A, Lesch KP, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt SH, Dalsgaard S, Børglum AD, Waldman I, Wilmot B, Molly N, Bau CHD, Crosbie J, Schachar R, Loo SK, McGough JJ, Grevet EH, Medland SE, Robinson E, Weiss LA, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck SM, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca DM, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Rogé B, Magalhaes T, Arking D, Schulze TG, Thompson RC, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen SE, Schalling M, Jamain S, Maaser A, Fischer SB, Reinbold CS, Fullerton JM, Guzman-Parra J, Mayoral F, Schofield PR, Cichon S, Mühleisen TW, Degenhardt F, Schumacher J, Bauer M, Mitchell PB, Gershon ES, Rice J, Potash JB, Zandi PP, Craddock N, Ferrier IN, Alda M, Rouleau GA, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski PM, Cruceanu C, Jones IR, Posthuma D, Andlauer TFM, Forstner AJ, Streit F, Baune BT, Air T, Sinnamon G, Wray NR, MacIntyre DJ, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp CM, Hickie I, Pergadia M, Mehta D, Smit JH, Jansen R, de Geus E, Dunn E, Li QS, Nauck M, Schoevers RA, Beekman AT, Knowles JA, Viktorin A, Arnold P, Barr CL, Bedoya-Berrio G, Bienvenu OJ, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks EM, Dietrich A, Fernandez T, Figee M, Freimer N, Gerber G, Grados M, Greenberg E, Hanna GL, Hartmann A, Hirschtritt ME, Hoekstra PJ, Huang A, Huyser C, Illmann C, Jenike M, Kuperman S, Leventhal B, Lochner C, Lyon GJ, Macciardi F, Madruga-Garrido M, Malaty IA, Maras A, McGrath L, Miguel EC, Mir P, Nestadt G, Nicolini H, Okun MS, Pakstis A, Paschou P, Piacentini J, Pittenger C, Plessen K, Ramensky V, Ramos EM, Reus V, Richter MA, Riddle MA, Robertson MM, Roessner V, Rosário M, Samuels JF, Sandor P, Stein DJ, Tsetsos F, Van Nieuwerburgh F, Weatherall S, Wendland JR, Wolanczyk T, Worbe Y, Zai G, Goes FS, McLaughlin N, Nestadt PS, Grabe HJ, Depienne C, Konkashbaev A, Lanzagorta N, Valencia-Duarte A, Bramon E, Buccola N, Cahn W, Cairns M, Chong SA, Cohen D, Crespo-Facorro B, Crowley J, Davidson M, DeLisi L, Dinan T, Donohoe G, Drapeau E, Duan J, Haan L, Hougaard D, Karachanak-Yankova S, Khrunin A, Klovins J, Kučinskas V, Lee Chee Keong J, Limborska S, Loughland C, Lönnqvist J, Maher B, Mattheisen M, McDonald C, Murphy KC, Nenadic I, van Os J, Pantelis C, Pato M, Petryshen T, Quested D, Roussos P, Sanders AR, Schall U, Schwab SG, Sim K, So HC, Stögmann E, Subramaniam M, Toncheva D, Waddington J, Walters J, Weiser M, Cheng W, Cloninger R, Curtis D, Gejman PV, Henskens F, Mattingsdal M, Oh SY, Scott R, Webb B, Breen G, Churchhouse C, Bulik CM, Daly M, Dichgans M, Faraone SV, Guerreiro R, Holmans P, Kendler KS, Koeleman B, Mathews CA, Price A, Scharf J, Sklar P, Williams J, Wood NW, Cotsapas C, Palotie A, Smoller JW, Sullivan P, Rosand J, Corvin A, Neale BM, Schott JM, Anney R, Elia J, Grigoroiu-Serbanescu M, Edenberg HJ, Murray R.

Science. 2018 Jun 22;360(6395). pii: eaap8757. doi: 10.1126/science.aap8757.

9.

Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.

Peeva V, Blei D, Trombly G, Corsi S, Szukszto MJ, Rebelo-Guiomar P, Gammage PA, Kudin AP, Becker C, Altmüller J, Minczuk M, Zsurka G, Kunz WS.

Nat Commun. 2018 Apr 30;9(1):1727. doi: 10.1038/s41467-018-04131-w.

10.

Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy.

Becker F, Reid CA, Hallmann K, Tae HS, Phillips AM, Teodorescu G, Weber YG, Kleefuss-Lie A, Elger C, Perez-Reyes E, Petrou S, Kunz WS, Lerche H, Maljevic S.

Epilepsia Open. 2017 Aug 5;2(3):334-342. doi: 10.1002/epi4.12068. eCollection 2017 Sep.

11.

Is There Still Any Role for Oxidative Stress in Mitochondrial DNA-Dependent Aging?

Zsurka G, Peeva V, Kotlyar A, Kunz WS.

Genes (Basel). 2018 Mar 21;9(4). pii: E175. doi: 10.3390/genes9040175. Review.

12.

Mitochondrial BK Channel Openers CGS7181 and CGS7184 Exhibit Cytotoxic Properties.

Augustynek B, Koprowski P, Rotko D, Kunz WS, Szewczyk A, Kulawiak B.

Int J Mol Sci. 2018 Jan 25;19(2). pii: E353. doi: 10.3390/ijms19020353.

13.

Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.

McCormack M, Gui H, Ingason A, Speed D, Wright GEB, Zhang EJ, Secolin R, Yasuda C, Kwok M, Wolking S, Becker F, Rau S, Avbersek A, Heggeli K, Leu C, Depondt C, Sills GJ, Marson AG, Auce P, Brodie MJ, Francis B, Johnson MR, Koeleman BPC, Striano P, Coppola A, Zara F, Kunz WS, Sander JW, Lerche H, Klein KM, Weckhuysen S, Krenn M, Gudmundsson LJ, Stefánsson K, Krause R, Shear N, Ross CJD, Delanty N; EPIGEN Consortium;, Pirmohamed M, Carleton BC; Canadian Pharmacogenomics Network for Drug Safety;, Cendes F, Lopes-Cendes I, Liao WP, O'Brien TJ, Sisodiya SM; EpiPGX Consortium;, Cherny S, Kwan P, Baum L; International League Against Epilepsy Consortium on Complex Epilepsies;, Cavalleri GL.

Neurology. 2018 Jan 23;90(4):e332-e341. doi: 10.1212/WNL.0000000000004853. Epub 2017 Dec 29. Erratum in: Neurology. 2018 Oct 16;91(16):765.

14.

Metabolic Epilepsies-Commemorative Issue in Honor of Professor Uwe Heinemann.

Kovács R, Kunz WS.

Int J Mol Sci. 2017 Nov 22;18(11). pii: E2499. doi: 10.3390/ijms18112499.

15.

Mitochondrial Liver Toxicity of Valproic Acid and Its Acid Derivatives Is Related to Inhibition of α-Lipoamide Dehydrogenase.

Kudin AP, Mawasi H, Eisenkraft A, Elger CE, Bialer M, Kunz WS.

Int J Mol Sci. 2017 Sep 6;18(9). pii: E1912. doi: 10.3390/ijms18091912.

16.

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.

Androsova G, Krause R, Borghei M, Wassenaar M, Auce P, Avbersek A, Becker F, Berghuis B, Campbell E, Coppola A, Francis B, Wolking S, Cavalleri GL, Craig J, Delanty N, Koeleman BPC, Kunz WS, Lerche H, Marson AG, Sander JW, Sills GJ, Striano P, Zara F, Sisodiya SM, Depondt C; EpiPGX Consortium.

Epilepsia. 2017 Oct;58(10):1734-1741. doi: 10.1111/epi.13871. Epub 2017 Aug 31.

17.

Peripheral nerve atrophy together with higher cerebrospinal fluid progranulin indicate axonal damage in amyotrophic lateral sclerosis.

Schreiber S, Debska-Vielhaber G, Abdulla S, Machts J, Schreiber F, Kropf S, KÖrtvelyessy P, KÖrner S, Kollewe K, Petri S, Dengler R, Kunz WS, Nestor PJ, Vielhaber S.

Muscle Nerve. 2018 Feb;57(2):273-278. doi: 10.1002/mus.25682. Epub 2017 May 22.

PMID:
28472860
18.

Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls.

Reimann J, Lehmann D, Hardy SA, Falkous G, Knowles CV, Jones RL, Kunz WS, Taylor RW, Kornblum C.

Neurol Genet. 2017 Apr 5;3(3):e147. doi: 10.1212/NXG.0000000000000147. eCollection 2017 Jun. No abstract available.

19.

Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy.

Kudin AP, Baron G, Zsurka G, Hampel KG, Elger CE, Grote A, Weber Y, Lerche H, Thiele H, Nürnberg P, Schulz H, Ruppert AK, Sander T, Cheng Q, Arnér ES, Schomburg L, Seeher S, Fradejas-Villar N, Schweizer U, Kunz WS.

Free Radic Biol Med. 2017 May;106:270-277. doi: 10.1016/j.freeradbiomed.2017.02.040. Epub 2017 Feb 21.

PMID:
28232204
20.

Mesial temporal lobe epilepsy associated with KCNT1 mutation.

Hansen N, Widman G, Hattingen E, Elger CE, Kunz WS.

Seizure. 2017 Feb;45:181-183. doi: 10.1016/j.seizure.2016.12.018. Epub 2016 Dec 26. No abstract available.

21.

Guide to the Pharmacology of Mitochondrial Potassium Channels.

Augustynek B, Kunz WS, Szewczyk A.

Handb Exp Pharmacol. 2017;240:103-127. doi: 10.1007/164_2016_79. Review.

PMID:
27838853
22.

Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.

Winter L, Wittig I, Peeva V, Eggers B, Heidler J, Chevessier F, Kley RA, Barkovits K, Strecker V, Berwanger C, Herrmann H, Marcus K, Kornblum C, Kunz WS, Schröder R, Clemen CS.

Acta Neuropathol. 2016 Sep;132(3):453-73. doi: 10.1007/s00401-016-1592-7. Epub 2016 Jul 8.

23.

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.

Lenk GM, Szymanska K, Debska-Vielhaber G, Rydzanicz M, Walczak A, Bekiesinska-Figatowska M, Vielhaber S, Hallmann K, Stawinski P, Buehring S, Hsu DA, Kunz WS, Meisler MH, Ploski R.

Am J Hum Genet. 2016 Jul 7;99(1):188-94. doi: 10.1016/j.ajhg.2016.05.008. Epub 2016 Jun 9.

24.

Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy.

Volmering E, Niehusmann P, Peeva V, Grote A, Zsurka G, Altmüller J, Nürnberg P, Becker AJ, Schoch S, Elger CE, Kunz WS.

Acta Neuropathol. 2016 Aug;132(2):277-88. doi: 10.1007/s00401-016-1561-1. Epub 2016 Mar 18.

PMID:
26993140
25.

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium, Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA.

PLoS One. 2016 Mar 18;11(3):e0150426. doi: 10.1371/journal.pone.0150426. eCollection 2016.

26.

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.

Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stüve B, Waltz S, Hattingen E, Thiele H, Nürnberg P, Rüb C, Voos W, Kopatz J, Neumann H, Kunz WS.

Brain. 2016 Feb;139(Pt 2):338-45. doi: 10.1093/brain/awv357. Epub 2015 Dec 17.

PMID:
26685157
27.

Mitochondrial dysfunction and seizures: the neuronal energy crisis.

Zsurka G, Kunz WS.

Lancet Neurol. 2015 Sep;14(9):956-66. doi: 10.1016/S1474-4422(15)00148-9. Review.

PMID:
26293567
28.

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.

Lal D, Pernhorst K, Klein KM, Reif P, Tozzi R, Toliat MR, Winterer G, Neubauer B, Nürnberg P, Rosenow F, Becker F, Lerche H, Kunz WS, Kurki MI, Hoffmann P, Becker AJ, Perucca E, Zara F, Sander T, Weber YG.

Epilepsia. 2015 Sep;56(9):e129-33. doi: 10.1111/epi.13076. Epub 2015 Jul 15.

29.

Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?

Becker F, Schubert J, Weckhuysen S, Suls A, Grüninger S, Korn-Merker E, Hofmann-Peters A, Sperner J, Cross H, Hallmann K, Elger CE, Kunz WS, Madeleyen R, Lerche H, Weber YG.

Epilepsy Res. 2015 Aug;114:47-51. doi: 10.1016/j.eplepsyres.2015.04.012. Epub 2015 May 1.

PMID:
26088884
30.

Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging.

Baris OR, Ederer S, Neuhaus JF, von Kleist-Retzow JC, Wunderlich CM, Pal M, Wunderlich FT, Peeva V, Zsurka G, Kunz WS, Hickethier T, Bunck AC, Stöckigt F, Schrickel JW, Wiesner RJ.

Cell Metab. 2015 May 5;21(5):667-77. doi: 10.1016/j.cmet.2015.04.005.

31.

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.

Lal D, Ruppert AK, Trucks H, Schulz H, de Kovel CG, Kasteleijn-Nolst Trenité D, Sonsma AC, Koeleman BP, Lindhout D, Weber YG, Lerche H, Kapser C, Schankin CJ, Kunz WS, Surges R, Elger CE, Gaus V, Schmitz B, Helbig I, Muhle H, Stephani U, Klein KM, Rosenow F, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Lieb W, Franke A, Strauch K, Gieger C, Schurmann C, Schminke U, Nürnberg P; EPICURE Consortium, Sander T.

PLoS Genet. 2015 May 7;11(5):e1005226. doi: 10.1371/journal.pgen.1005226. eCollection 2015 May.

32.

Oxyphil cell metaplasia in the parathyroids is characterized by somatic mitochondrial DNA mutations in NADH dehydrogenase genes and cytochrome c oxidase activity-impairing genes.

Müller-Höcker J, Schäfer S, Krebs S, Blum H, Zsurka G, Kunz WS, Prokisch H, Seibel P, Jung A.

Am J Pathol. 2014 Nov;184(11):2922-35. doi: 10.1016/j.ajpath.2014.07.015.

PMID:
25418474
33.

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.

Hallmann K, Zsurka G, Moskau-Hartmann S, Kirschner J, Korinthenberg R, Ruppert AK, Ozdemir O, Weber Y, Becker F, Lerche H, Elger CE, Thiele H, Nürnberg P, Sander T, Kunz WS.

Neurology. 2014 Dec 2;83(23):2183-7. doi: 10.1212/WNL.0000000000001055. Epub 2014 Oct 31.

PMID:
25361775
34.

Epileptic focus and alteration of metabolism.

Otáhal J, Folbergrová J, Kovacs R, Kunz WS, Maggio N.

Int Rev Neurobiol. 2014;114:209-43. doi: 10.1016/B978-0-12-418693-4.00009-1. Review.

PMID:
25078504
35.

Blood-brain barrier dysfunction can contribute to pharmacoresistance of seizures.

Salar S, Maslarova A, Lippmann K, Nichtweiss J, Weissberg I, Sheintuch L, Kunz WS, Shorer Z, Friedman A, Heinemann U.

Epilepsia. 2014 Aug;55(8):1255-63. doi: 10.1111/epi.12713. Epub 2014 Jul 3.

36.

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.

Nicholls TJ, Zsurka G, Peeva V, Schöler S, Szczesny RJ, Cysewski D, Reyes A, Kornblum C, Sciacco M, Moggio M, Dziembowski A, Kunz WS, Minczuk M.

Hum Mol Genet. 2014 Dec 1;23(23):6147-62. doi: 10.1093/hmg/ddu336. Epub 2014 Jun 30.

37.

Loss of UCP2 attenuates mitochondrial dysfunction without altering ROS production and uncoupling activity.

Kukat A, Dogan SA, Edgar D, Mourier A, Jacoby C, Maiti P, Mauer J, Becker C, Senft K, Wibom R, Kudin AP, Hultenby K, Flögel U, Rosenkranz S, Ricquier D, Kunz WS, Trifunovic A.

PLoS Genet. 2014 Jun 19;10(6):e1004385. doi: 10.1371/journal.pgen.1004385. eCollection 2014 Jun.

38.

Hemin inhibits the large conductance potassium channel in brain mitochondria: a putative novel mechanism of neurodegeneration.

Augustynek B, Kudin AP, Bednarczyk P, Szewczyk A, Kunz WS.

Exp Neurol. 2014 Jul;257:70-5. doi: 10.1016/j.expneurol.2014.04.022. Epub 2014 Apr 30.

PMID:
24792919
39.

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.

Dejanovic B, Lal D, Catarino CB, Arjune S, Belaidi AA, Trucks H, Vollmar C, Surges R, Kunz WS, Motameny S, Altmüller J, Köhler A, Neubauer BA, Epicure Consortium, Nürnberg P, Noachtar S, Schwarz G, Sander T.

Neurobiol Dis. 2014 Jul;67:88-96. doi: 10.1016/j.nbd.2014.02.001. Epub 2014 Feb 19.

PMID:
24561070
40.

Microglial CD33-related Siglec-E inhibits neurotoxicity by preventing the phagocytosis-associated oxidative burst.

Claude J, Linnartz-Gerlach B, Kudin AP, Kunz WS, Neumann H.

J Neurosci. 2013 Nov 13;33(46):18270-6. doi: 10.1523/JNEUROSCI.2211-13.2013.

41.

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME; UK Brain Expression Consortium, Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM.

Brain. 2013 Oct;136(Pt 10):3140-50. doi: 10.1093/brain/awt233. Epub 2013 Sep 6.

42.

Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy.

Zsurka G, Becker F, Heinen M, Gdynia HJ, Lerche H, Kunz WS, Weber YG.

Seizure. 2013 Jul;22(6):483-6. doi: 10.1016/j.seizure.2013.03.003. Epub 2013 Apr 16.

43.

Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP.

Schreiber S, Oldag A, Kornblum C, Kollewe K, Kropf S, Schoenfeld A, Feistner H, Jakubiczka S, Kunz WS, Scherlach C, Tempelmann C, Mawrin C, Dengler R, Schreiber F, Goertler M, Vielhaber S.

Muscle Nerve. 2013 Mar;47(3):385-95. doi: 10.1002/mus.23681. Epub 2013 Feb 4.

PMID:
23381770
44.

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.

Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BP, de Kovel CG, Visscher F, Weber YG, Lerche H, Becker F, Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, Franke A, Illig T, Ried JS, Leu C, Nürnberg P, Sander T; EMINet Consortium; EPICURE Consortium.

Epilepsia. 2013 Feb;54(2):265-71. doi: 10.1111/epi.12084. Epub 2013 Jan 25.

45.

Mitochondrial involvement in neurodegenerative diseases.

Zsurka G, Kunz WS.

IUBMB Life. 2013 Mar;65(3):263-72. doi: 10.1002/iub.1126. Epub 2013 Jan 22. Review.

46.

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.

Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H.

Nat Genet. 2013 Feb;45(2):214-9. doi: 10.1038/ng.2501. Epub 2013 Jan 13.

47.

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.

Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium.

Epilepsia. 2013 Feb;54(2):256-64. doi: 10.1111/epi.12078. Epub 2013 Jan 7. Erratum in: Epilepsia. 2013 Dec;54(12):2232.

48.

Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease).

Schorlemmer K, Bauer S, Belke M, Hermsen A, Klein KM, Reif PS, Oertel WH, Kunz WS, Knake S, Rosenow F, Strzelczyk A.

Epilepsy Behav Case Rep. 2013 Aug 16;1:118-21. doi: 10.1016/j.ebcr.2013.07.003. eCollection 2013.

49.

Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation.

Tschampa HJ, Urbach H, Greschus S, Kunz WS, Kornblum C.

J Neurol. 2013 Apr;260(4):1071-80. doi: 10.1007/s00415-012-6763-4. Epub 2012 Nov 30.

PMID:
23196335
50.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

EPICURE Consortium; EMINet Consortium, Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T.

Hum Mol Genet. 2012 Dec 15;21(24):5359-72. doi: 10.1093/hmg/dds373. Epub 2012 Sep 4.

PMID:
22949513

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