Munich Cluster for Systems Neurology
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Publications Meitinger

2022

  • Mishra A, Malik R, Hachiya T, Jürgenson T, Namba S, Posner DC, Kamanu FK, Koido M, Le Grand Q, Shi M, He Y, Georgakis MK, Caro I, Krebs K, Liaw YC, Vaura FC, Lin K, Winsvold BS, Srinivasasainagendra V, Parodi L, Bae HJ, Chauhan G, Chong MR, Tomppo L, Akinyemi R, Roshchupkin GV, Habib N, Jee YH, Thomassen JQ, Abedi V, Cárcel-Márquez J, Nygaard M, Leonard HL, Yang C, Yonova-Doing E, Knol MJ, Lewis AJ, Judy RL, Ago T, Amouyel P, Armstrong ND, Bakker MK, Bartz TM, Bennett DA, Bis JC, Bordes C, Børte S, Cain A, Ridker PM, Cho K, Chen Z, Cruchaga C, Cole JW, de Jager PL, de Cid R, Endres M, Ferreira LE, Geerlings MI, Gasca NC, Gudnason V, Hata J, He J, Heath AK, Ho YL, Havulinna AS, Hopewell JC, Hyacinth HI, Inouye M, Jacob MA, Jeon CE, Jern C, Kamouchi M, Keene KL, Kitazono T, Kittner SJ, Konuma T, Kumar A, Lacaze P, Launer LJ, Lee KJ, Lepik K, Li J, Li L, Manichaikul A, Markus HS, Marston NA, Meitinger T, Mitchell BD, Montellano FA, Morisaki T, Mosley TH, Nalls MA, Nordestgaard BG, O'Donnell MJ, Okada Y, Onland-Moret NC, Ovbiagele B, Peters A, Psaty BM, Rich SS, Rosand J, Sabatine MS, Sacco RL, Saleheen D, Sandset EC, Salomaa V, Sargurupremraj M, Sasaki M, Satizabal CL, Schmidt CO, Shimizu A, Smith NL, Sloane KL, Sutoh Y, Sun YV, Tanno K, Tiedt S, Tatlisumak T, Torres-Aguila NP, Tiwari HK, Trégouët DA, Trompet S, Tuladhar AM, Tybjærg-Hansen A, van Vugt M, Vibo R, Verma SS, Wiggins KL, Wennberg P, Woo D, Wilson PWF, Xu H, Yang Q, Yoon K; COMPASS Consortium; INVENT Consortium; Dutch Parelsnoer Initiative (PSI) Cerebrovascular Disease Study Group; Estonian Biobank; PRECISEQ Consortium; FinnGen Consortium; NINDS Stroke Genetics Network (SiGN); MEGASTROKE Consortium; SIREN Consortium; China Kadoorie Biobank Collaborative Group; VA Million Veteran Program; International Stroke Genetics Consortium (ISGC); Biobank Japan; CHARGE Consortium; GIGASTROKE Consortium, Millwood IY, Gieger C, Ninomiya T, Grabe HJ, Jukema JW, Rissanen IL, Strbian D, Kim YJ, Chen PH, Mayerhofer E, Howson JMM, Irvin MR, Adams H, Wassertheil-Smoller S, Christensen K, Ikram MA, Rundek T, Worrall BB, Lathrop GM, Riaz M, Simonsick EM, Kõrv J, França PHC, Zand R, Prasad K, Frikke-Schmidt R, de Leeuw FE, Liman T, Haeusler KG, Ruigrok YM, Heuschmann PU, Longstreth WT, Jung KJ, Bastarache L, Paré G, Damrauer SM, Chasman DI, Rotter JI, Anderson CD, Zwart JA, Niiranen TJ, Fornage M, Liaw YP, Seshadri S, Fernández-Cadenas I, Walters RG, Ruff CT, Owolabi MO, Huffman JE, Milani L, Kamatani Y, Dichgans M, Debette S (2022)
    Stroke genetics informs drug discovery and risk prediction across ancestries.
    Nature. 2022 Sep 30:1–15. doi: 10.1038/s41586-022-05165-3. Epub ahead of print. PMID: 36180795; PMCID: PMC9524349.

2020

  • Arloth J, Eraslan G, Andlauer TFM, Martins J, Iurato S, Kühnel B, Waldenberger M, Frank J, Gold R, Hemmer B, Luessi F, Nischwitz S, Paul F, Wiendl H, Gieger C, Heilmann-Heimbach S, Kacprowski T, Laudes M, Meitinger T, Peters A, Rawal R, Strauch K, Lucae S, Müller-Myhsok B, Rietschel M, Theis FJ, Binder EB, Mueller NS (2020)
    DeepWAS: Multivariate genotype-phenotype associations by directly integrating regulatory information using deep learning.
    PLoS Comput Biol. 2020 Feb 3;16(2):e1007616. doi: 10.1371/journal.pcbi.1007616. eCollection 2020 Feb.
  • Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB (2020)
    Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
    Am J Hum Genet. 2020;S0002-9297(20)30203-2. doi:10.1016/j.ajhg.2020.06.015 [published online ahead of print, 2020 Jul 19]

2019

  • Brenner D, Rosenbohm A, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET (2019)
    Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.
    Brain. 2019 Oct 15. pii: awz306. doi: 10.1093/brain/awz306. [Epub ahead of print]
  • Forouhideh Y, Müller K, Ruf W, Assi M, Seker T, Tunca C, Knehr A, Strom TM, Gorges M, Schradt F, Meitinger T, Ludolph AC, Pinkhardt EH, Basak AN, Kassubek J, Uttner I, Weishaupt JH (2019)
    A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
    Brain. 2019 Jan 12. doi: 10.1093/brain/awy343. [Epub ahead of print]
  • Yilmaz R, Müller K, Brenner D, Volk AE, Borck G, Hermann A, Meitinger T, Strom TM, Danzer KM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS Network MND-NET (2019)
    SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden.
    Neurobiol Aging. 2019 Nov 2. pii: S0197-4580(19)30382-3. doi: 10.1016/j.neurobiolaging.2019.10.018. [Epub ahead of print]

2018

  • Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D; German ALS network MND-NET, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH (2018)
    Hot-spot KIF5A mutations cause familial ALS
    Brain. 2018 Jan 12. doi: 10.1093/brain/awx370. [Epub ahead of print] Hot-spot KIF5A mutations cause familial ALS. Brain. 2018 Jan 12. doi: 10.1093/brain/awx370. [Epub ahead of print] [Epub ahead of print]
  • Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M, Wroblewski A, Hartmann H, Das AM, Bültmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Płoski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB (2018)
    Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
    Am J Hum Genet. 2018 Nov 1;103(5):817-825. doi: 10.1016/j.ajhg.2018.10.005. Epub 2018 Oct 25.
  • Erhart G, Lamina C, Lehtimäki T, Marques-Vidal P, Kähönen M, Vollenweider P, Raitakari OT, Waeber G, Thorand B, Strauch K, Gieger C, Meitinger T, Peters A, Kronenberg F, Coassin S (2018)
    Genetic Factors Explain a Major Fraction of the 50% Lower LPA (Lipoprotein[a]) Concentrations in Finns.
    Arterioscler Thromb Vasc Biol. 2018 Mar 22. pii: ATVBAHA.118.310865. doi: 10.1161/ATVBAHA.118.310865. [Epub ahead of print]
  • Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk AE, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys KG, Schrank B, Sperfeld AD, Hübers A, Otto M, Dorst J, Meitinger T, Strom TM, Andersen PM, Ludolph AC, Weishaupt JH; German ALS network MND-NET (2018)
    Comprehensive analysis of the mutation spectrum in 301 German ALS families.
    J Neurol Neurosurg Psychiatry. 2018 Apr 12. pii: jnnp-2017-317611. doi: 10.1136/jnnp-2017-317611. [Epub ahead of print]
  • Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr., van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE (2018)
    Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
    Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.
  • Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S (2018)
    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
    Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8.
  • Yang Y, Zhao H, Boomsma DI, Ligthart L, Belin AC, Smith GD, Esko T, Freilinger TM, Hansen TF, Ikram MA, Kallela M, Kubisch C, Paraskevi C, Strachan DP, Wessman M; International Headache Genetics Consortium (i.a. Dichgans M, Müller-Myhsok B, Meitinger T ), van den Maagdenberg AMJM, Terwindt GM, Nyholt DR (2018)
    Molecular genetic overlap between migraine and major depressive disorder.
    Eur J Hum Genet. 2018 Jul 11. doi: 10.1038/s41431-018-0150-2. [Epub ahead of print]

2017

  • Herebian D, Alhaddad B, Seibt A, Schwarzmayr T, Danhauser K, Klee D, Harmsen S, Meitinger T, Strom TM, Schulz A, Mayatepek E, Haack TB, Distelmaier F (2017)
    Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities
    Eur J Hum Genet. 2017 Jun 14. doi: 10.1038/ejhg.2017.96. [Epub ahead of print]
  • Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H (2017)
    Genetic diagnosis of Mendelian disorders via RNA sequencing
    Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824.
  • Mack S, Coassin S, Rueedi R, Yousri NA, Seppälä I, Gieger C, Schönherr S, Forer L, Erhart G, Marques-Vidal P, Ried J, Waeber G, Bergmann S, Dähnhardt D, Stöckl A, Raitakari OT, Kähönen M, Peters A, Meitinger T, Strauch K, Kedenko L, Paulweber B, Lehtimäki T, Hunt SC, Vollenweider P, Lamina C, Kronenberg F (2017)
    A genome-wide association meta-analysis on lipoprotein(a) concentrations adjusted for apolipoprotein(a) isoforms
    J Lipid Res. 2017 May 16. pii: jlr.M076232. doi: 10.1194/jlr.M076232. [Epub ahead of print]
  • McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, Goris A, Bradley DG, Al-Chalabi A, van den Berg LH, Luykx JJ, Hardiman O, Veldink JH; Project MinE GWAS Consortium (i.a. Meitinger T ); Schizophrenia Working Group of the Psychiatric Genomics Consortium (i.a. Müller-Myhsok B ) (2017)
    Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
    Nat Commun. 2017 Mar 21;8:14774. doi: 10.1038/ncomms14774.
  • Wheeler E, Leong A, Liu CT, Hivert MF, Strawbridge RJ, Podmore C, Li M, Yao J, Sim X, Hong J, Chu AY, Zhang W, Wang X, Chen P, Maruthur NM, Porneala BC, Sharp SJ, Jia Y, Kabagambe EK, Chang LC, Chen WM, Elks CE, Evans DS, Fan Q, Giulianini F, Go MJ, Hottenga JJ, Hu Y, Jackson AU, Kanoni S, Kim YJ, Kleber ME, Ladenvall C, Lecoeur C, Lim SH, Lu Y, Mahajan A, Marzi C, Nalls MA, Navarro P, Nolte IM, Rose LM, Rybin DV, Sanna S, Shi Y, Stram DO, Takeuchi F, Tan SP, van der Most PJ, Van Vliet-Ostaptchouk JV, Wong A, Yengo L, Zhao W, Goel A, Martinez Larrad MT, Radke D, Salo P, Tanaka T, van Iperen EPA, Abecasis G, Afaq S, Alizadeh BZ, Bertoni AG, Bonnefond A, Böttcher Y, Bottinger EP, Campbell H, Carlson OD, Chen CH, Cho YS, Garvey WT, Gieger C, Goodarzi MO, Grallert H, Hamsten A, Hartman CA, Herder C, Hsiung CA, Huang J, Igase M, Isono M, Katsuya T, Khor CC, Kiess W, Kohara K, Kovacs P, Lee J, Lee WJ, Lehne B, Li H, Liu J, Lobbens S, Luan J, Lyssenko V, Meitinger T, Miki T, Miljkovic I, Moon S, Mulas A, Müller G, Müller-Nurasyid M, Nagaraja R, Nauck M, Pankow JS, Polasek O, Prokopenko I, Ramos PS, Rasmussen-Torvik L, Rathmann W, Rich SS, Robertson NR, Roden M, Roussel R, Rudan I, Scott RA, Scott WR, Sennblad B, Siscovick DS, Strauch K, Sun L, Swertz M, Tajuddin SM, Taylor KD, Teo YY, Tham YC, Tönjes A, Wareham NJ, Willemsen G, Wilsgaard T, Hingorani AD; EPIC-CVD Consortium; EPIC-InterAct Consortium; Lifelines Cohort Study, Egan J, Ferrucci L, Hovingh GK, Jula A, Kivimaki M, Kumari M, Njølstad I, Palmer CNA, Serrano Ríos M, Stumvoll M, Watkins H, Aung T, Blüher M, Boehnke M, Boomsma DI, Bornstein SR, Chambers JC, Chasman DI, Chen YI, Chen YT, Cheng CY, Cucca F, de Geus EJC, Deloukas P, Evans MK, Fornage M, Friedlander Y, Froguel P, Groop L, Gross MD, Harris TB, Hayward C, Heng CK, Ingelsson E, Kato N, Kim BJ, Koh WP, Kooner JS, Körner A, Kuh D, Kuusisto J, Laakso M, Lin X, Liu Y, Loos RJF, Magnusson PKE, März W, McCarthy MI, Oldehinkel AJ, Ong KK, Pedersen NL, Pereira MA, Peters A, Ridker PM, Sabanayagam C, Sale M, Saleheen D, Saltevo J, Schwarz PE, Sheu WHH, Snieder H, Spector TD, Tabara Y, Tuomilehto J, van Dam RM, Wilson JG, Wilson JF, Wolffenbuttel BHR, Wong TY, Wu JY, Yuan JM, Zonderman AB, Soranzo N, Guo X, Roberts DJ, Florez JC, Sladek R, Dupuis J, Morris AP, Tai ES, Selvin E, Rotter JI, Langenberg C, Barroso I, Meigs JB (2017)
    Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis
    PLoS Med. 2017 Sep 12;14(9):e1002383. doi: 10.1371/journal.pmed.1002383. eCollection 2017 Sep.

2016

  • Andlauer T F M, Buck D, Antony G, Bayas A, Bechmann L, Berthele A, Chan A, Gasperi C, Gold R, Graetz C, Haas J, Hecker M, Infante-Durante C, Knop M, Kümpfel T, Limmroth V, Linker R A, Loleit V, Luessi F, Meuth S G, Mühlau M, Nischwitz S, Paul F, Pütz M, Ruck T, Salmen A, Stangel M, Stellmann J-P, Stürner K H, Tackenberg B, Then Bergh F, Tumani H, Warnke C, Weber F, Wiendl H, Wildemann B, Zettl U K, Ziemann U, Zipp F, Arloth J, Weber P, Radivojkov-Blagojevic M, Scheinhardt M O, Dankowski T, Bettecken T, Lichtner P, Czamara D, Carrillo-Roa T, Binder E B, Berger K, Bertram L, Franke A, Gieger C, Herma S, Homuth G, Ising M, Jöckel K-H, Kacprowski T, Kloiber S, Lauder M, Lieb W, Lill C M, Lucae S, Meitinger T, Moebus S, Müller-Nurasyid M, Nöthen M M, Petersmann A, Rawal R, Schminke U, Strauch K, Völzke H, Waldenberger M, Jürgen W, Porcu E, Mulas A, Pitzalis M, Sidore C, Zara I, Cucca F, Zoledziewska M, Ziegler A, Hemmer B, Müller-Myhsok B (2016)
    Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation
    Science Advances. 2016 June 17. 2(6):e1501678. DOI: 10.1126/sciadv.1501678. eCollection 2016.
  • Baertling F, Klee D, Haack TB, Prokisch H, Meitinger T, Mayatepek E, Schaper J, Distelmaier (2016)
    The many faces of paediatric mitochondrial disease on neuroimaging
    Childs Nerv Syst. 2016 Jul 23. [Epub ahead of print]
  • Brenner D, Müller K, Wieland T, Weydt P, Böhm S, Lulé D, Hübers A, Neuwirth C, Weber M, Borck G, Wahlqvist M, Danzer KM, Volk AE, Meitinger T, Strom TM, Otto M, Kassubek J, Ludolph AC, Andersen PM, Weishaupt JH (2016)
    NEK1 mutations in familial amyotrophic lateral sclerosis
    Brain. 2016 Mar 5. pii: aww033. [Epub ahead of print]
  • Danhauser K, Haack TB, Alhaddad B, Melcher M, Seibt A, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F (2016)
    EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum
    Metab Brain Dis. 2016 Jan 16. [Epub ahead of print]
  • Gormley P, Anttila V, Winsvold B S, Palta P, Esko T, Pers T H, Farh K-H, Ceunca-Leon E, Muona M, Furlotte N A, Kurth T, Ingason A, McMahon G, Ligthart L, Terwindt G, Kallela M, Freilinger T M, Ran C, Gordon S G, Stam A H, Steinberg S, Borck G, Koiranen M, Quaye L, Adams H H H, Lehtimäki T, Sarin A-P, Wedenoja J, Hinds D A, Buring J E, Schürks M, Ridker P M, Hrafnsdottir M G, Stefansson H, Ring S M, Hottenga J-J, Penninx B W J H, Färkkilä M, Artto V, Kaunisto M, Vepsäläinen S, Malik R, Heath A C, Madden P A F, Martin N, Montgomery G, Kurki M, Kals M, Mägi R, Pärn K, Hämäläinen E, Huang H, Byrnes A, Franke L, Huang J, Stergiakouli E, Lee P H, Sandor C, Webber C, Cader Z, Muller-Myhsok B, Schreiber S, Meitinger T, Eriksson J G, Salomaa V, Heikkilä K, Loehrer E, Uitterlinden A, Hofman A, van Duijn C M, Cherkas L, Pedersen L M, Stubhaug A, Nielsen C S, Männikkö M, Mihailov E, Milani L, Göbel H, Esserlind A-L, Christensen A F, Hansen T F, Werge T, International Headache Genetics Consortium, Kaprio J, Aromaa A J, Raitakari O, Ikram M A, Spector T, Järvelin M-R, Metspalu A, Kubisch C, Strachan D P, Ferrari M D, Belin A C, Dichgans M, Kokoeva M V, Wessman M, van den Maagdenberg A M J M, Zwart J-A, Boomsma D I, Smith G D, Stefansson K, Eriksson N, Daly M J, Neale B M, Olesen J, Chasman D I, Nyholt D R, Palotie A (2016)
    Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
    Nature Genetics. 2016 June 20. DOI: 10.1038/ng.3598. [Epub ahead of print]
  • Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T (2016)
    Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
    Am J Hum Genet. 2016 Aug 17. pii: S0002-9297(16)30230-0. doi: 10.1016/j.ajhg.2016.06.026. [Epub ahead of print]
  • Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB (2016)
    CAD mutations and uridine-responsive epileptic encephalopathy
    Brain. 2016 Dec 21. pii: aww300. doi: 10.1093/brain/aww300. [Epub ahead of print]
  • Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB (2016)
    Biallelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy
    Am J Hum Genet. 2016 Jan 19. pii: S0002-9297(15)00504-2. doi: 10.1016/j.ajhg.2015.12.009. [Epub ahead of print]
  • Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H (2016)
    NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
    Am J Hum Genet. 2016 Aug 31. pii: S0002-9297(16)30292-0. doi: 10.1016/j.ajhg.2016.07.018. [Epub ahead of print]
  • Lamina C, Friedel S, Coassin S, Rueedi R, Yousri NA, Seppälä I, Gieger C, Schönherr S, Forer L, Erhart G, Kollerits B, Marques-Vidal P, Ried J, Waeber G, Bergmann S, Dähnhardt D, Stöckl A, Kiechl S, Raitakari OT, Kähönen M, Willeit J, Kedenko L, Paulweber B, Peters A, Meitinger T, Strauch K, KORA study group, Lehtimäki T, Hunt SC, Vollenweider P, Kronenberg F (2016)
    A genome-wide association meta-analysis on apolipoprotein A-IV concentrations
    Human Molecular Genetics. 2016 July 12. DOI: 10.1093/hmg/ddw211. pii: ddw211. [Epub ahead of print]

2015

  • Baertling F, Haack TB, Rodenburg RJ, Schaper J, Seibt A, Strom TM, Meitinger T, Mayatepek E, Hadzik B, Selcan G, Prokisch H, Distelmaier F (2015)
    MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities
    Neurogenetics. 2015 Feb 10. [Epub ahead of print]
  • Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D (2015)
    COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency
    Am J Hum Genet. 2015 Feb 5;96(2):309-317. doi: 10.1016/j.ajhg.2014.12.023.
  • Danhauser K, Herebian D, Haack TB, Rodenburg RJ, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F (2015)
    Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9
    Eur J Hum Genet. 2015 Jun 17. doi: 10.1038/ejhg.2015.133. [Epub ahead of print]
  • Distelmaier F, Haack TB, Catarino CB, Gallenmüller C, Rodenburg RJ, Strom TM, Baertling F, Meitinger T, Mayatepek E, Prokisch H, Klopstock T (2015)
    MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy
    Neurogenetics. 2015 Mar 24. [Epub ahead of print]
  • Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Müller K, Marroquin N, Nordin F, Hübers A, Weydt P Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani MH, Dorst J, Graf E, Nordström U, Feiler MS, Putz S, Boeckers TM, Meyer T, Winkler AS, Winkelmann J, de Carvalho M, Thal DR, Otto M, Brännström T, Volk AE, Kursula P, Danzer KM, Lichtner P, Dikic I, Meitinger T, Ludolph AC, Strom TM, Andersen PM, Weishaupt JH (2015)
    Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
    Nat Neurosci. 2015 Mar 24. doi: 10.1038/nn.4000. [Epub ahead of print]
  • Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K8, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kölker S, Prokisch H, Klopstock T (2015)
    Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
    Ann Clin Transl Neurol. 2015 May;2(5):492-509. doi: 10.1002/acn3.189. Epub 2015 Mar 13.
  • Holzerova E, Danhauser K, Haack TB, Kremer LS, Melcher M, Ingold I, Kobayashi S, Terrile C, Wolf P, Schaper J, Mayatepek E, Baertling F, Friedmann Angeli JP, Conrad M, Strom TM, Meitinger T, Holger P, Distelmaier F (2015)
    Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration
    Brain. 2015 Dec 1. pii: awv350. [Epub ahead of print]
  • Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar HA, Trenkwalder C, Haass C, Winkelmann J (2015)
    Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease
    Eur J Hum Genet. 2015 Jan 21. doi: 10.1038/ejhg.2014.300. [Epub ahead of print]
  • Zhao H, Eising E, de Vries B, Vijfhuizen LS; International Headache Genetics Consortium, Anttila V, Winsvold BS, Kurth T, Stefansson H, Kallela M, Malik R, Stam AH, Ikram MA, Ligthart L, Freilinger T, Alexander M, Müller-Myhsok B, Schreiber S, Meitinger T, Aromas A, Eriksson JG, Boomsma DI, van Duijn CM, Zwart JA, Quaye L, Kubisch C, Dichgans M, Wessman M, Stefansson K, Chasman DI, Palotie A, Martin NG, Montgomery GW, Ferrari MD, Terwindt GM, van den Maagdenberg AM, Nyholt DR (2015)
    Gene-based pleiotropy across migraine with aura and migraine without aura patient groups
    Cephalalgia. 2015 Dec 8. pii: 0333102415591497. [Epub ahead of print]

2014

2013

  • Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U, McArdle WL, Quaye L, Koiranen M, Ikram MA, Lehtimäki T, Stam AH, Ligthart L, Wedenoja J, Dunham I, Neale BM, Palta P, Hamalainen E, Schürks M, Rose LM, Buring JE, Ridker PM, Steinberg S, Stefansson H, Jakobsson F, Lawlor DA, Evans DM, Ring SM, Färkkilä M, Artto V, Kaunisto MA, Freilinger T, Schoenen J, Frants RR, Pelzer N, Weller CM, Zielman R, Heath AC, Madden PA, Montgomery GW, Martin NG, Borck G, Göbel H, Heinze A, Heinze-Kuhn K, Williams FM, Hartikainen AL, Pouta A, van den Ende J, Uitterlinden AG, Hofman A, Amin N, Hottenga JJ, Vink JM, Heikkilä K, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann HE, Aromaa A, Eriksson JG, Traynor BJ, Trabzuni D; North American Brain Expression Consortium; UK Brain Expression Consortium, Rossin E, Lage K, Jacobs SB, Gibbs JR, Birney E, Kaprio J, Penninx BW, Boomsma DI, van Duijn C, Raitakari O, Jarvelin MR, Zwart JA, Cherkas L, Strachan DP, Kubisch C, Ferrari MD, van den Maagdenberg AM, Dichgans M, Wessman M, Smith GD, Stefansson K, Daly MJ; for the International Headache Genetics Consortium, Nyholt DR, Chasman DI, Palotie A (2013)
    Genome-wide meta-analysis identifies new susceptibility loci for migraine
    Nat Genet. 2013 Jun 23. doi: 10.1038/ng.2676. [Epub ahead of print]
  • Schulte EC, Ellwanger DC, Dihanich S, Manzoni C, Stangl K, Schormair B, Graf E, Eck S, Mollenhauer B, Haubenberger D, Pirker W, Zimprich A, Brücke T, Lichtner P, Peters A, Pirker W, Zimprich A, Brücke T, Lichtner P, Peters A, Gieger C, Trenkwalder C, Mewes HW, Meitinger T, Lewis PA, Klünemann HH, Winkelmann J (2013)
    Rare variants in LRRK1 and Parkinson's disease
    Neurogenetics. 2014 Mar;15(1):49-57. doi: 10.1007/s10048-013-0383-8. Epub 2013 Nov 16.
  • Zech M, Gross N, Jochim A, Castrop F, Kaffe M, Dresel C, Lichtner P, Peters A, Gieger C, Meitinger T, Haslinger B, Winkelmann J (2013)
    Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls
    Mov Disord. 2013 Oct 22. doi: 10.1002/mds.25715. [Epub ahead of print]
  • Zech M, Nübling G, Castrop F, Jochim A, Schulte EC, Mollenhauer B, Lichtner P, Peters A, Gieger C, Marquardt T, Vanier MT, Latour P, Klünemann H, Trenkwalder C, Diehl-Schmid J, Perneczky R, Meitinger T, Oexle K, Haslinger B, Lorenzl S, Winkelmann J (2013)
    Niemann-pick C disease gene mutations and age-related neurodegenerative disorders
    PLoS One. 2013 Dec 30;8(12):e82879. doi: 10.1371/journal.pone.0082879.
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