Veröffentlichungen

Mignot C, von Stülp­na­gel C, Nava C, Vil­le D, San­la­vil­le D, Les­ca G, Rastet­ter A, Gachet B, Marie Y, Koren­ke GC, Borg­grae­fe I, Hoff­mann-Zach­ars­ka D, Szc­ze­pa­nik E, Rudz­ka-Dybała M, Yiş U, Çağla­yan H, Isa­pof A, Marey I, Panagio­t­aka­ki E, Korff C, Ros­sier E, Riess A, Beck-Woedl S, Rauch A, Zwei­er C, Hoyer J, Reis A, Miro­nov M, Bobyl­o­va M, Muk­hin K, Her­nan­dez-Her­nan­dez L, Maher B, Sisodi­ya S, Kuhn M, Gla­e­ser D, Wechuy­sen S, Myers CT, Mef­ford HC, Hört­na­gel K, Biskup S; Euro­EPI­NO­MICS-RES MAE working group, Lem­ke JR, Héron D, Klu­ger G, Depi­en­ne C. (2016). Gene­tic and neu­ro­de­ve­lop­men­tal spec­trum of SYN­GA­P1-asso­cia­ted intel­lec­tu­al disa­bi­li­ty and epi­le­psy. J Med Genet. 2016 Mar 17. pii: jmedgenet-2015–103451. doi: 10.1136/jmedgenet-2015–103451.


Wil­ke C, Pom­per JK, Biskup S, Pus­kás C, Berg D, Syn­of­zik M. (2016). Aty­pi­cal par­kin­so­nism in C9orf72 expan­si­ons: a case report and sys­te­ma­tic review of 45 cases from the lite­ra­tu­re. J Neu­rol. 2016 Jan 25. PMID: 26810719


Gar­del­la E, Becker F, Møl­ler RS, Schu­bert J, Lem­ke JR, Lar­sen LH, Eiberg H, Noth­na­gel M, Thie­le H, Alt­mül­ler J, Syr­be S, Mer­ken­schla­ger A, Bast T, Stein­hoff B, Nürn­berg P, Mang Y, Bak­ke Møl­ler L, Gel­lert P, Heron S, Dib­bens L, Weck­huy­sen S, Dahl HA, Biskup S, Tom­me­r­up N, Hja­l­grim H, Ler­che H, Benicz­ky S, Weber YG. (2015). Benign infan­ti­le sei­zu­res and par­oxys­mal dys­ki­ne­sia cau­sed by an SCN8A muta­ti­on. Ann Neu­rol. 2015 Dec 17. doi: 10.1002/ana.24580.


Schwarz N, Hahn A, Bast T, Mül­ler S, Löff­ler H, Mal­je­vic S, Gai­ly E, Prehl I, Biskup S, Joen­suu T, Lehes­jo­ki AE, Neu­bau­er BA, Ler­che H, Hed­rich UB (2015). Muta­ti­ons in the sodi­um chan­nel gene SCN2A cau­se neo­na­tal epi­le­psy with late-onset epi­so­dic ata­xia. J Neu­rol. 2015 Dec 8. PMID: 26645390.


Park JH, Hogre­be M, Grü­ne­berg M, DuChes­ne I, von der Hei­den AL, Reu­nert J, Schling­mann KP, Boy­cott KM, Beau­lieu CL, Mhan­ni AA, Innes AM, Hört­na­gel K, Biskup S, Gleix­ner EM, Kur­le­mann G, Fied­ler B, Omran H, Rutsch F, Wada Y, Tsia­kas K, San­ter R, Nebert DW, Rust S, Mar­quardt T (2015). SLC39A8 Defi­ci­en­cy: A Dis­or­der of Man­ga­ne­se Trans­port and Gly­co­syla­ti­on. Am J Hum Genet. 2015 Dec 3;97(6):894–903. doi: 10.1016/j.ajhg.2015.11.003.


Pilot­to A, Schul­te C, Hau­ser AK, Biskup S, Munz M, Brock­mann K, Scha­ef­fer E, Syn­of­zik M, Maetz­ler W, Suen­kel U, Sru­li­jes K, Gas­ser T, Berg D (2015). GBA-asso­cia­ted par­kin­so­nism and demen­tia: bey­ond α-synu­clei­nopa­thies? Eur J Neu­rol. 2015 Nov 9. doi: 10.1111/ene.12894. PMID: 26549049.


Peve­ling-Ober­hag J, Wol­ters F, Döring C, Wal­ter D, Sell­mann L, Schol­ty­sik R, Lucio­ni M, Schub­ach M, Paul­li M, Biskup S, Zeu­zem S, Küp­pers R, Hans­mann ML. (2015). Who­le exo­me sequen­cing of micro­dis­sec­ted sple­nic mar­gi­nal zone lym­pho­ma: a stu­dy to dis­co­ver novel tumor-spe­ci­fic muta­ti­ons. BMC Can­cer. 2015 Oct 24;15:773. doi: 10.1186/s12885-015‑1766-z.


Ema­mi Ried­mai­er A, Burk O, van Eijck BA, Scha­ef­fe­ler E, Klein K, Fehr S, Biskup S, Mül­ler S, Win­ter S, Zan­ger UM, Schwab M, Nies AT. (2015). Varia­bi­li­ty in hepa­tic expres­si­on of orga­nic anion trans­por­ter 7/SLC22A9, a novel pra­va­sta­tin upt­ake trans­por­ter: impact of gene­tic and regu­lato­ry fac­tors. Phar­ma­co­ge­no­mics J. 2015 Aug 4. doi: 10.1038/tpj.2015.55.


Sri­va­sta­va S, Engels H, Schan­ze I, Cre­mer K, Wie­land T, Men­zel M, Schub­ach M, Biskup S, Kreiß M, Ende­le S, Strom TM, Wie­czo­rek D, Zen­ker M, Gupta S, Cohen J, Zink AM, Nai­du S. (2015). Loss-of-func­tion vari­ants in HIVEP2 are a cau­se of intel­lec­tu­al disa­bi­li­ty. Eur J Hum Genet. 2015 Jul 8. doi: 10.1038/ejhg.2015.151.


Mey­er-Ohlen­dorf M, Brac­zyn­ski A, Al-Qai­si O, Gess­ler F, Biskup S, Wei­se L, Stein­bach JP, Wag­ner M, Mit­tel­bronn M, Bähr O. (2015). Com­pre­hen­si­ve dia­gnostics in a case of her­edita­ry dif­fu­se leu­ko­dys­tro­phy with sphe­ro­ids. BMC Neu­rol. 2015 Jul 4;15:103. doi: 10.1186/s12883-015‑0368-3.


Loh­mann E, Krü­ger S, Hau­ser AK, Hana­ga­si H, Guven G, Ergi­nel-Unal­tu­na N, Biskup S, Gas­ser T (2015). Cli­ni­cal varia­bi­li­ty in ata­xia-telan­giec­ta­sia. J Neu­rol. 2015 May 10.


Moog U, Bier­hals T, Brand K, Bautsch J, Biskup S, Bru­ne T, Den­ecke J, de Die-Smul­ders CE, Evers C, Hem­pel M, Hen­ne­ke M, Ynte­ma H, Men­ten B, Pietz J, Pfundt R, Schmidtke J, Stei­ne­mann D, Stum­pel CT, Van Malder­gem L, Kut­sche K (2015). Phe­no­ty­pic and mole­cu­lar insights into CASK-rela­ted dis­or­ders in males. Orpha­net J Rare Dis. 2015 Apr 12;10(1):44.


Sten­del C, Gal­len­mül­ler C, Peters K, Bür­ger F, Gra­mer G, Biskup S, Klopstock T (2015). Para­no­id delu­si­on as lead sym­ptom in two sib­lings with late-onset Tay-Sachs disea­se and a novel muta­ti­on in the HEXA gene. J Neu­rol. 2015 Apr;262(4):1072–3. doi: 10.1007/s00415-015‑7729-0.


Gar­cia-Miral­les M, Coo­ma­ras­wa­my J, Häbig K, Her­zig MC, Funk N, Gil­lar­don F, Mais­el M, Jucker M, Gas­ser T, Gal­ter D, Biskup S (2015). No Dopa­mi­ne Cell Loss or Chan­ges in Cyto­ske­le­ton Func­tion in Trans­ge­nic Mice Expres­sing Phy­sio­lo­gi­cal Levels of Wild Type or G2019S Mutant LRRK2 and in Human Fibro­blasts. PLoS One. 2015 Apr 1;10(4):e0118947. doi: 10.1371/journal.pone.0118947.


Dör­re K, Olc­zak M, Wada Y, Sosi­cka P, Grü­ne­berg M, Reu­nert J, Kur­le­mann G, Fied­ler B, Biskup S, Hört­na­gel K, Rust S, Mar­quardt T (2015). A new case of UDP-galac­to­se trans­por­ter defi­ci­en­cy (SLC35A2-CDG): mole­cu­lar basis, cli­ni­cal phe­no­ty­pe, and the­ra­peu­tic approach. J Inherit Metab Dis. 2015 Mar 17. PMID: 25778940.


Syr­be S, Hed­rich UB, Riesch E, Djé­mié T, Mül­ler S, Møl­ler RS, Maher B, Her­nan­dez-Her­nan­dez L, Syn­of­zik M, Cagla­yan HS, Ars­lan M, Ser­ra­to­sa JM, Noth­na­gel M, May P, Krau­se R, Löff­ler H, Detert K, Dorn T, Vogt H, Krä­mer G, Schöls L, Mul­lis PE, Linn­an­ki­vi T, Lehes­jo­ki AE, Ster­bo­va K, Craiu DC, Hoff­man-Zach­ars­ka D, Korff CM, Weber YG, Stein­lin M, Gal­la­ti S, Bert­sche A, Bern­hard MK, Mer­ken­schla­ger A, Kiess W; Euro­EPI­NO­MICS RES, Gon­za­lez M, Züch­ner S, Palo­tie A, Suls A, De Jonghe P, Hel­big I, Biskup S, Wolff M, Mal­je­vic S, Schü­le R, Sisodi­ya SM, Weck­huy­sen S, Ler­che H, Lem­ke JR (2015). De novo loss- or gain-of-func­tion muta­ti­ons in KCNA2 cau­se epi­lep­tic ence­pha­lo­pa­thy. Nat Genet. 2015 Mar 9. doi: 10.1038/ng.3239.


Kurz­wel­ly D, Krü­ger S, Biskup S, Hene­ka MT. (2015). A dis­tinct cli­ni­cal phe­no­ty­pe in a Ger­man kind­red with motor neu­ron disea­se car­ry­ing a CHCHD10 muta­ti­on. Brain. 2015 Feb 12. pii: awv014.


San­tos-Sil­va R, Pas­sas A, Rocha C, Figuei­re­do R, Men­des-Ribei­ro J, Fer­nan­des S, Biskup S, Leão M. (2015). Bila­te­ral Fron­to­pa­rie­tal Poly­mi­cro­gy­ria: A Novel GPR56 Muta­ti­on and an Unusu­al Phe­no­ty­pe. Neuro­pe­diatrics. 2015 Feb 2. PMID: 25642806.


D’Adamo MC, Gal­len­mül­ler C, Ser­vet­ti­ni I, Hartl E, Tucker SJ, Arning L, Biskup S, Grot­te­si A, Gugliel­mi L, Imbri­ci P, Ber­nas­co­ni P, Di Gio­van­ni G, Fran­cio­li­ni F, Cata­cuz­ze­no L, Pes­sia M, Klopstock T. (2015). Novel phe­no­ty­pe asso­cia­ted with a muta­ti­on in the KCNA1(Kv1.1) gene. Front Phy­si­ol. 2015 Jan 15;5:525. doi: 10.3389/fphys.2014.00525. eCollec­tion 2014.


Kett­wig M, Schub­ach M, Zim­mer­mann FA, Klin­ge L, Mayr JA, Biskup S, Sperl W, Gärt­ner J, Hupp­ke P. (2015). From ventri­cu­lo­me­ga­ly to seve­re mus­cu­lar atro­phy: Expan­si­on of the cli­ni­cal spec­trum rela­ted to muta­ti­ons in AIFM1. Mito­chon­dri­on. 2015 Mar;21:12–8. doi: 10.1016/j.mito.2015.01.001. Epub 2015 Jan 10.


Kuhm C, Gal­len­mül­ler C, Dörk T, Men­zel M, Biskup S, Klopstock T (2015). Novel ATM muta­ti­on in a Ger­man pati­ent pre­sen­ting as gene­ra­li­zed dys­to­nia wit­hout clas­si­cal signs of ata­xia-telan­giec­ta­sia. J Neu­rol. 2015 Jan 9. PMID: 25572163.


Lar­sen J, Car­vill GL, Gar­del­la E, Klu­ger G, Schmie­del G, Bari­sic N, Depi­en­ne C, Bril­s­tra E, Mang Y, Niel­sen JE, Kirk­pa­trick M, Gou­die D, Gold­man R, Jähn JA, Jep­sen B, Gill D, Döcker M, Biskup S, McMa­hon JM, Koe­le­man B, Har­ris M, Braun K, de Kovel CG, Mari­ni C, Spec­chio N, Djé­mié T, Weck­huy­sen S, Tom­me­r­up N, Tron­co­so M, Tron­co­so L, Bevot A, Wolff M, Hja­l­grim H, Guer­ri­ni R, Schef­fer IE, Mef­ford HC, Møl­ler RS; On behalf of the Euro­EPI­NO­MICS RES Con­sor­ti­um CRP (2015). The phe­no­ty­pic spec­trum of SCN8A ence­pha­lo­pa­thy. Neu­ro­lo­gy. 2015 Jan 7. pii: 10.1212/WNL.0000000000001211.


Gad­zi­cki D, Döcker D, Schub­ach M, Men­zel M, Schmorl B, Stell­mer F, Biskup S, Bar­thol­di D (2014). Expan­ding the phe­no­ty­pe of a recur­rent de novo vari­ant in PACS1 causing intel­lec­tu­al disa­bi­li­ty. Clin Genet. 2014 Dec 18. doi: 10.1111/cge.12544.


Kel­ler A, Mee­se E, Durand C, Biskup S (2015). Nucleic Acids as Mole­cu­lar Dia­gnostics, Chap­ter 12: Geno­me, Exo­me, and Gene Panel Sequen­cing in a Cli­ni­cal Set­ting. Wiley-VCH Ver­lag GmbH & Co KGaA


Pera J, Lech­ner S, Biskup S, Strach M, Grod­zi­cki T, Slo­wik A. (2014). Two novel muta­ti­ons of the SETX gene and ata­xia with ocu­lo­mo­tor apra­xia type 2. Clin Neu­rol Neu­ro­surg. 2014 Nov 6;128C:44–46. doi: 10.1016/j.clineuro.2014.10.024.


Schu­bert J, Sie­kier­s­ka A, Lan­g­lois M, May P, Hune­au C, Becker F, Muh­le H, Suls A, Lem­ke JR, de Kovel CG, Thie­le H, Kon­rad K, Kawa­lia A, Toli­at MR, San­der T, Rüschen­dorf F, Calie­be A, Nagel I, Kohl B, Kecs­kés A, Jacmin M, Har­dies K, Weck­huy­sen S, Riesch E, Dorn T, Bril­s­tra EH, Bau­lac S, Møl­ler RS, Hja­l­grim H, Koe­le­man BP; Euro­EPI­NO­MICS RES Con­sor­ti­um, Jur­kat-Rott K, Leh­man-Horn F, Roach JC, Glus­man G, Hood L, Galas DJ, Mar­tin B, de Wit­te PA, Biskup S, De Jonghe P, Hel­big I, Bal­ling R, Nürn­berg P, Craw­ford AD, Esguer­ra CV, Weber YG, Ler­che H (2014). Muta­ti­ons in STX1B, enco­ding a pre­syn­ap­tic pro­te­in, cau­se fever-asso­cia­ted epi­le­psy syn­dro­mes. Nat Genet. 2014 Nov 2. doi: 10.1038/ng.3130.


Ben­der B, Klo­se U, Lin­dig T, Biskup S, Näge­le T, Schöls L, Kar­le KN (2014). Ima­ging fea­tures in con­ven­tio­nal MRI, spec­tro­sco­py and dif­fu­si­on weight­ed images of her­edita­ry dif­fu­se leu­ko­en­ce­pha­lo­pa­thy with axo­nal sphe­ro­ids (HDLS). J Neu­rol. 2014 Sep 20.


Tacik P, Loens S, Schra­der C, Gay­de-Ste­phan S, Biskup S, Dress­ler D (2014). Seve­re fami­li­al par­oxys­mal exer­ci­se-indu­ced dys­ki­ne­sia. J Neu­rol. 2014 Aug 7.


Wal­ker MD, Vol­ta M, Catal­di S, Dinel­le K, Becca­no-Kel­ly D, Mun­sie L, Kor­nel­sen R, Mah C, Chou P, Co K, Khin­da J, Mro­c­zek M, Ber­ge­ron S, Yu K, Cao LP, Funk N, Ott T, Gal­ter D, Riess O, Biskup S, Mil­ner­wood AJ, Stoessl AJ, Far­rer MJ, Sos­si V (2014). Beha­vio­ral Defi­cits and Stria­tal DA Signa­ling in LRRK2 p.G2019S Trans­ge­nic Rats: A Mul­ti­modal Inves­ti­ga­ti­on Inclu­ding PET Neu­ro­ima­ging. J Par­kin­sons Dis. 2014 Jul 7.


Döcker D, Schub­ach M, Men­zel M, Spaich C, Gabri­el HD, Zen­ker M, Bar­thol­di D, Biskup S (2014). Germli­ne PTPN11 and soma­tic PIK3CA vari­ant in a boy with mega­len­ce­pha­ly-capil­la­ry mal­for­ma­ti­on syn­dro­me (MCAP) – pure coin­ci­dence? Eur J Hum Genet. 2014 Jun 18. doi: 10.1038/ejhg.2014.118.


Shaik­hibra­him Z, Offer­mann A, Braun M, Menon R, Syring I, Nowak M, Hal­bach R, Vogel W, Ruiz C, Zell­we­ger T, Rentsch C, Svens­son M, And­ren O, Buben­dorf L, Biskup S, Duen­sing S, Kir­fel J, Per­ner S (2014). MED12 over­ex­pres­si­on is a fre­quent event in cas­tra­ti­on-resistant pro­sta­te can­cer. Endo­cr Relat Can­cer. 2014 Jun 17. pii: ERC-14–0171.


Levin J, Tiedt S, Arz­ber­ger T, Biskup S, Schu­berth M, Steng­lein-Krapf G, Kreth FW, Högen T, la Fou­gè­re C, Linn J, van der Knaap MS, Gie­se A, Kretz­sch­mar HA, Danek A (2014). Dif­fu­se leu­ko­en­ce­pha­lo­pa­thy with sphe­ro­ids: Bio­psy fin­dings and a novel muta­ti­on. Clin Neu­rol Neu­ro­surg. 2014 Jul;122:113–5. doi: 10.1016/j.clineuro.2014.04.022. Epub 2014 May 4.


Enge­holm M, Sek­ler J, Schön­dorf DC, Aro­ra V, Schit­ten­helm J, Biskup S, Schell C, Gas­ser T (2014). A novel muta­ti­on in LRSAM1 cau­ses axo­nal Char­cot-Marie-Tooth disea­se with domi­nant inheri­tan­ce. BMC Neu­rol. 2014 Jun 3;14(1):118. doi: 10.1186/1471–2377-14–118.


Bru­eck­ner F, Kohl B, Puest B, Gas­s­ner S, Osse­forth J, Lin­denau M, Sto­dieck S, Biskup S, Loh­mann E (2014). Unusu­al varia­bi­li­ty of PRRT2 lin­ked phe­no­ty­pes wit­hin a fami­ly. Eur J Paediatr Neu­rol. 2014 Jul;18(4):540–2. doi: 10.1016/j.ejpn.2014.03.012. Epub 2014 Apr 8.


Schu­berth M, Levin J, Sawal­he D, Schwarz­kopf R, von Baum­gar­ten L, Ertl-Wag­ner B, Rom­in­ger A, Arz­ber­ger T, Kretz­sch­mar HA, Fro­bö­se T, Diehl-Schmid J, Biskup S, Danek A (2014). [Her­edita­ry dif­fu­se leu­ken­ce­pha­lo­pa­thy with sphe­ro­ids: a micro­glio­pa­thy due to CSF1 recep­tor impairment.] Ner­ven­arzt. 2014 Apr;85(4):465–70. doi: 10.1007/s00115-014‑4052-4. Ger­man.


Brown­stein CA, Beggs AH, Homer N, Mer­ri­man B, Yu TW, Flan­ne­ry KC, Deche­ne ET, Tow­ne MC, Sava­ge SK, Pri­ce EN, Holm IA, Luquet­te LJ, Lyon E, Majz­oub J, Neu­pert P, McCal­lie D Jr, Szolo­vits P, Wil­lard HF, Men­delsohn NJ, Tem­me R, Fin­kel RS, Yum SW, Med­ne L, Sun­ya­ev SR, Adzhu­bey I, Cas­sa CA, de Bak­ker PI, Duz­ka­le H, Dwor­zy Ski P, Fair­bro­ther W, Fran­cio­li L, Fun­ke BH, Gio­van­ni MA, Hand­sa­ker RE, Lage K, Lebo MS, Lek M, Lesh­chi­ner I, Macar­thur DG, McLaugh­lin HM, Mur­ray MF, Pers TH, Polak PP, Ray­chaud­hu­ri S, Rehm HL, Soeme­di R, Stit­ziel NO, Veste­cka S, Sup­per J, Gugen­mus C, Klo­cke B, Hahn A, Schub­ach M, Men­zel M, Biskup S, Frei­sin­ger P, Deng M, Braun M, Per­ner S, Smith RJ, Andorf JL, Huang J, Ryck­man K, Shef­field VC, Stone EM, Bair T, Black-Zie­gel­bein EA, Braun TA, Dar­bro B, Delu­ca AP, Kol­be DL, Scheetz TE, Shea­rer AE, Som­pal­lae R, Wang K, Bas­suk AG, Edens E, Mathews K, Moo­re SA, Shche­loch­kov OA, Tra­pa­ne P, Boss­ler A, Camp­bell CA, Heu­sel JW, Kwi­tek A, Maga T, Pan­zer K, Was­sink T, Van Dae­le D, Azai­ez H, Booth K, Mey­er N, Segal MM, Wil­liams MS, Tromp G, White P, Cors­mei­er D, Fitz­ge­rald-Butt S, Her­man G, Lamb-Thrush D, McBri­de KL, New­som D, Pier­son CR, Rakow­sky AT, Maver A, Lov­re I L, Palan­da I A, Peter­lin B, Tor­ka­ma­ni A, Wedell A, Huss M, Ale­xey­en­ko A, Lind­vall JM, Magnus­son M, Nils­son D, Stran­n­e­heim H, Tayl­an F, Gilis­sen C, Hoi­schen A, van Bon B, Ynte­ma H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Caria­so M, Len­non GG, Javed A, Agra­wal S, Ng PC, Sand­hu KS, Krish­na S, Veer­a­ma­cha­neni V, Isa­kov O, Hal­pe­rin E, Fried­man E, Shom­ron N, Glus­man G, Roach JC, Cabal­le­ro J, Cox HC, Maul­din D, Ament SA, Rowen L, Richards DR, Lucas FA, Gon­za­lez-Garay ML, Cas­key CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Bar­re­ra J, Gar­cia-Lobo JM, Gon­zá­lez-Lamuño D, Llor­ca J, Rodri­guez MC, Vare­la I, Ree­se MG, De La Vega FM, Kiru­lu­ta E, Carg­ill M, Hart RK, Soren­son JM, Lyon GJ, Ste­ven­son DA, Bray BE, Moo­re BM, Eil­beck K, Yan­dell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alex­an­der AC, Alber­tyn ZI, Boy­cott KM, Bul­man DE, Gor­don PM, Innes AM, Knop­pers BM, Majew­ski J, Mar­shall CR, Par­boo­singh JS, Sawy­er SL, Samu­els ME, Schwart­zen­tru­ber J, Koha­ne IS, Mar­gu­lies DM (2014). An inter­na­tio­nal effort towards deve­lo­ping stan­dards for best prac­tices in ana­ly­sis, inter­pre­ta­ti­on and repor­ting of cli­ni­cal geno­me sequen­cing results in the CLARITY Chal­len­ge. Geno­me Biol. 2014 Mar 25;15(3):R53.


Mitra S, Förs­ter-From­me K, Damms-Mach­a­do A, Scheu­ren­brand T, Biskup S, Huson DH, Bisch­off SC (2013). Ana­ly­sis of the intes­ti­nal micro­bio­ta using SOLiD 16S rRNA gene sequen­cing and SOLiD shot­gun sequen­cing. BMC Geno­mics. 2013;14 Sup­pl 5:S16. doi: 10.1186/1471–2164-14-S5-S16. Epub 2013 Oct 16.


Shaik­hibra­him Z, Menon R, Braun M, Offer­mann A, Queis­ser A, Boehm D, Vogel W, Rüenau­ver K, Ruiz C, Zell­we­ger T, Svens­son M, And­ren O, Kris­ti­an­sen G, Wern­ert N, Buben­dorf L, Kir­fel J, Biskup S, Per­ner S (2014). MED15, enco­ding a sub­u­nit of the media­tor com­plex, is over­ex­pres­sed at high fre­quen­cy in cas­tra­ti­on-resistant pro­sta­te can­cer. Int J Can­cer. 2014 Jul 1;135(1):19–26. doi: 10.1002/ijc.28647. Epub 2013 Dec 9.


Mall­aret M, Lagha-Bouk­bi­za O, Biskup S, Namer IJ, Rudolf G, Anheim M, Tran­chant C (2013). SPG15: a cau­se of juve­ni­le aty­pi­cal levod­o­pa respon­si­ve par­kin­so­nism. J Neu­rol. 2014 Feb;261(2):435–7. doi: 10.1007/s00415-013‑7216-4. Epub 2013 Dec 24.


Ganos C, Biskup S, Krü­ger S, Mey­er-Oso­res A, Hode­cker S, Hagel C, Schöls L, Bha­tia KP, Mün­chau A (2014). Dys­to­nia with apho­nia, slow hori­zon­tal sac­ca­des, epi­le­psy and pho­tic myo­clo­nus: a novel syn­dro­me? Par­kin­so­nism Relat Dis­ord. 2014 Mar;20(3):328–31. doi: 10.1016/j.parkreldis.2013.11.011. Epub 2013 Nov 27.


Döcker D, Schub­ach M, Men­zel M, Munz M, Spaich C, Biskup S, Bar­thol­di D (2013). Fur­ther deli­nea­ti­on of the SATB2 phe­no­ty­pe. Eur J Hum Genet. 2013 Dec 4. doi: 10.1038/ejhg.2013.280.


Syn­of­zik M, Born C, Rom­in­ger A, Lum­mel N, Schöls L, Biskup S, Schü­le C, Grass­hoff U, Klopstock T, Adamc­zyk C (2013). Tar­ge­ted high-through­put sequen­cing iden­ti­fies a TARDBP muta­ti­on as a cau­se of ear­ly-onset FTD wit­hout motor neu­ron disea­se. Neu­ro­bi­ol Aging. 2014 May;35(5):1212.e1-5. doi: 10.1016/j.neurobiolaging.2013.10.092. Epub 2013 Oct 29.


Sta­fa K, Tsi­ka E, Moser R, Mus­so A, Glau­ser L, Jones A, Biskup S, Xiong Y, Ban­do­pad­hyay R, Daw­son VL, Daw­son TM, Moo­re DJ (2014). Func­tio­n­al inter­ac­tion of Parkinson’s disea­se-asso­cia­ted LRRK2 with mem­bers of the dynamin GTPa­se super­fa­mi­ly. Hum Mol Genet. 2014 Apr 15;23(8):2055–77. doi: 10.1093/hmg/ddt600. Epub 2013 Nov 26.


Law BM, Spain VA, Leins­ter VH, Chia R, Bei­li­na A, Cho HJ, Tay­mans JM, Urban MK, San­cho RM, Ramí­rez MB, Biskup S, Bae­ke­landt V, Cai H, Cook­son MR, Ber­wick DC, Har­vey K (2014). A direct inter­ac­tion bet­ween leu­ci­ne-rich repeat kina­se 2 and spe­ci­fic β-tubu­lin iso­forms regu­la­tes tubu­lin ace­tyla­ti­on. J Biol Chem. 2014 Jan 10;289(2):895–908. doi: 10.1074/jbc.M113.507913. Epub 2013 Nov 25.


Zils K, Wirth T, Loff S, Biskup S, von Kal­le T, Biel­ack S (2014). Mul­ti­ple meta­chro­nous osteo­sar­co­mas in a pati­ent with Li-Frau­meni syn­dro­me. Pediatr Hema­tol Oncol. 2014 May;31(4):359–61. doi: 10.3109/08880018.2013.848388. Epub 2013 Nov 25.


Lem­ke JR, Hend­rickx R, Gei­der K, Lau­be B, Schwa­ke M, Har­vey RJ, James VM, Pep­ler A, Stei­ner I, Hört­na­gel K, Neid­hardt J, Ruf S, Wolff M, Bar­thol­di D, Cara­bal­lo R, Plat­zer K, Suls A, Jonghe PD, Biskup S, Weck­huy­sen S (2013). GRIN2B muta­ti­ons in west syn­dro­me and intel­lec­tu­al disa­bi­li­ty with focal epi­le­psy. Ann Neu­rol. 2013 Nov 23. doi: 10.1002/ana.24073.


Fale­tra F, D’Adamo AP, Bru­no I, Atha­na­sa­kis E, Biskup S, Espo­si­to L, Gas­pa­ri­ni P (2013). Auto­so­mal reces­si­ve stick­ler syn­dro­me due to a loss of func­tion muta­ti­on in the COL9A3 gene. Am J Med Genet A. 2013 Nov 22. doi: 10.1002/ajmg.a.36165.


Kar­le KN, Biskup S, Schü­le R, Schweit­zer KJ, Krü­ger R, Bau­er P, Ben­der B, Näge­le T, Schöls L (2013). De novo muta­ti­ons in her­edita­ry dif­fu­se leu­ko­en­ce­pha­lo­pa­thy with axo­nal sphe­ro­ids (HDLS). Neu­ro­lo­gy. 2013 Nov 6.


Menon R, Deng M, Rüenau­ver K, Queis­ser A, Offer­mann A, Boehm D, Vogel W, Sche­ble V, Fend F, Kris­ti­an­sen G, Wern­ert N, Ober­beck­mann N, Biskup S, Rubin MA, Shaik­hibra­him Z, Per­ner S (2013). Soma­tic copy num­ber alte­ra­ti­ons by who­le exo­me sequen­cing impli­ca­tes YWHAZ and PTK2 in cas­tra­ti­on-resistant pro­sta­te can­cer. J Pathol. 2013 Sep 23. doi: 10.1002/path.4274.


Lem­ke JR, Lal D, Reintha­ler EM, Stei­ner I, Noth­na­gel M, Alber M, Gei­der K, Lau­be B, Schwa­ke M, Fins­ter­wal­der K, Fran­ke A, Schil­ha­bel M, Jähn JA, Muh­le H, Boor R, Van Paes­schen W, Cara­bal­lo R, Fejer­man N, Weck­huy­sen S, De Jonghe P, Lar­sen J, Møl­ler RS, Hja­l­grim H, Addis L, Tang S, Hug­hes E, Pal DK, Veri K, Vaher U, Tal­vik T, Dimo­va P, López RG, Ser­ra­to­sa JM, Linn­an­ki­vi T, Lehes­jo­ki AE, Ruf S, Wolff M, Bue­r­ki S, Wohl­rab G, Kro­ell J, Dat­ta AN, Fied­ler B, Kur­le­mann G, Klu­ger G, Hahn A, Haber­landt DE, Kut­zer C, Sper­ner J, Becker F, Weber YG, Feucht M, Stein­böck H, Neo­phythou B, Ronen GM, Gru­ber-Sedl­mayr U, Geld­ner J, Har­vey RJ, Hoff­mann P, Herms S, Alt­mül­ler J, Toli­at MR, Thie­le H, Nürn­berg P, Wil­helm C, Ste­pha­ni U, Hel­big I, Ler­che H, Zim­prich F, Neu­bau­er BA, Biskup S, von Spic­zak S (2013). Muta­ti­ons in GRIN2A cau­se idio­pa­thic focal epi­le­psy with rolan­dic spikes. Nat Genet. 2013 Aug 11. doi: 10.1038/ng.2728.


Glöck­le N, Kohl S, Mohr J, Scheu­ren­brand T, Spre­cher A, Weis­schuh N, Bernd A, Rudolph G, Schub­ach M, Polo­schek C, Zren­ner E, Biskup S, Ber­ger W, Wis­sin­ger B, Neid­hardt J (2013). Panel-based next genera­ti­on sequen­cing as a reli­able and effi­ci­ent tech­ni­que to detect muta­ti­ons in unselec­ted pati­ents with reti­nal dys­tro­phies. Eur J Hum Genet. 2013 Apr 17. doi: 10.1038/ejhg.2013.72.


Ganos C, Biskup S, Klein­mi­chel S, Zit­tel S, Schun­ke O, Ger­loff C, Mün­chau A (2013). Pro­gres­si­ve ata­xia asso­cia­ted with scar­ring skin lesi­ons and ver­ti­cal gaze pal­sy. Mov Dis­ord. 2013 Apr;28(4):443–5.


Biskup S (2013). Hand­book of Rese­arch on ICTs and Manage­ment Sys­tems for Impro­ving Effi­ci­en­cy in Health­ca­re and Soci­al Care (2 Volu­mes), Chap­ter 47: ICT Aspec­ts of Next-Genera­ti­on-Sequen­cing App­lied to Mole­cu­lar Dia­gnostics. 2013 Apr. doi: 10.4018/978–1-4666–3990-4.ch047.


Sam­paio M, Rocha R, Biskup S, Leão M (2013). Novel STXBP1 Muta­ti­ons in 2 Pati­ents With Ear­ly Infan­ti­le Epi­lep­tic Ence­pha­lo­pa­thy. J Child Neu­rol. 2013 Mar 26.


Syn­of­zik M, Soehn AS, Gbu­rek-Augus­tat J, Schicks J, Kar­le KN, Schü­le R, Haack TB, Schö­ning M, Biskup S, Rud­nik-Schö­ne­born S, Sen­derek J, Hoff­mann KT, Macleod P, Schwarz J, Ben­der B, Krü­ger S, Kreuz F, Bau­er P, Schöls L (2013). Auto­so­mal reces­si­ve spastic ata­xia of Char­le­voix Saguen­ay (ARSACS): expan­ding the gene­tic, cli­ni­cal and ima­ging spec­trum. Orpha­net J Rare Dis. 2013 Mar 15;8:41.


Hoefe­le J, Wil­helm C, Schies­ser M, Mack R, Hein­rich U, Weber LT, Biskup S, Dau­mer-Haas C, Klein HG, Rost I (2013) Expan­ding the muta­ti­on spec­trum for Fra­ser syn­dro­me: Iden­ti­fi­ca­ti­on of a novel hete­ro­zy­gous dele­ti­on in FRAS1. Gene. 2013 May 15;520(2):194–7.


Schicks J, Mül­ler Vom Hagen J, Bau­er P, Beck-Wödl S, Biskup S, Krä­ge­loh-Mann I, Schöls L, Syn­of­zik M (2013). Nie­mann-pick type c is fre­quent in adult ata­xia with cogni­ti­ve decli­ne and ver­ti­cal gaze pal­sy. Neu­ro­lo­gy. Mar 19;80(12):1169–70.


Funk N, Wieg­ho­fer P, Grimm S, Schae­fer R, Büh­ring HJ, Gas­ser T, Biskup S (2013). Cha­rac­te­ri­za­ti­on of peri­pheral hema­to­po­ie­tic stem cells and mono­cy­tes in Parkinson’s disea­se. Mov Dis­ord. 2013 Mar;28(3):392–5.


Kohl S, Biskup S (2013). Gene­tic Dia­gnostic Tes­ting in Inheri­ted Reti­nal Dys­tro­phies. Klin Mon­bl Augen­heilkd. 2013 Mar;230(3):243–6.


Syn­of­zik M, Biskup S, Ley­he T, Rei­mold M, Fall­gat­ter AJ, Metz­ger F (2012). Sui­ci­de attempt as the pre­sen­ting sym­ptom of c9orf72 demen­tia. Am J Psych­ia­try. 2012 Nov 1;169(11):1211–3.


Win­ter P, Kamm C, Biskup S, Köh­ler A, Leu­be B, Aubur­ger G, Gas­ser T, Ben­ecke R, Mül­ler U (2012). DYT7 gene locus for cer­vi­cal dys­to­nia on chro­mo­so­me 18p is ques­tion­ab­le. Mov Dis­ord. Dec;27(14):1819–21.


Menon R, Deng M, Boehm D, Braun M, Fend F, Boehm D, Biskup S, Per­ner S (2012). Exo­me Enrich­ment and SOLiD Sequen­cing of For­ma­lin Fixed Par­af­fin Embed­ded (FFPE) Pro­sta­te Can­cer Tis­sue. Int J Mol Sci. 2012;13(7):8933–42.


Syn­of­zik M, Maetz­ler W, Grehl T, Prud­lo J, Vom Hagen JM, Haack T, Rebas­soo P, Munz M, Schöls L, Biskup S (2012). Scree­ning in ALS and FTD pati­ents reveals 3 novel UBQLN2 muta­ti­ons out­si­de the PXX domain and a pure FTD phe­no­ty­pe. Neu­ro­bi­ol Aging. 2012 Dec;33(12):2949.e13-7.


Biskup S, Gas­ser T (2012). Gene­tic tes­ting in neu­ro­lo­gi­cal disea­ses. J Neu­rol. 2012 Jun;259(6):1249–54.


Lem­ke JR, Riesch E, Scheu­ren­brand T, Schub­ach M, Wil­helm C, Stei­ner I, Han­sen J, Cou­ra­ge C, Gal­la­ti S, Bür­ki S, Stroz­zi S, Simo­net­ti BG, Grunt S, Stein­lin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lak­sh­mi­n­ara­sim­han M, Kröll J, Dorn T, Krä­mer G, Syn­of­zik M, Becker F, Weber YG, Ler­che H, Böhm D, Biskup S (2012). Tar­ge­ted next genera­ti­on sequen­cing as a dia­gnostic tool in epi­lep­tic dis­or­ders. Epi­lep­sia. 2012 Aug;53(8):1387–98.


Syn­of­zik M, Ron­chi D, Kes­kin I, Basak AN, Wil­helm C, Gob­bi C, Bir­ve A, Biskup S, Zec­ca C, Fernán­dez-San­tia­go R, Kau­ge­saar T, Schöls L, Mar­k­lund SL, Ander­sen PM (2012). Mutant super­oxi­de dis­muta­se-1 indis­tin­guis­ha­ble from wild-type cau­ses ALS. Hum Mol Genet. 2012 Aug 15;21(16):3568–74.


Syn­of­zik M, Hagen JM, Biskup S, Schöls L (2012). D90A-SOD1 ALS mimi­cking mono­clo­nal gam­mo­pa­thy-asso­cia­ted ALS. Amyo­troph Late­ral Scler. 2012 May;13(3):326–7.


Daher JP, Plet­ni­ko­va O, Biskup S, Mus­so A, Gell­haar S, Gal­ter D, Tron­co­so JC, Lee MK, Daw­son TM, Daw­son VL, Moo­re DJ (2012). Neu­ro­de­ge­ne­ra­ti­ve phe­no­ty­pes in an A53T α-synu­c­lein trans­ge­nic mou­se model are inde­pen­dent of LRRK2. Hum Mol Genet. 2012 Jun 1;21(11):2420–31.


Syn­of­zik M, Schicks J, Lin­dig T, Biskup S, Schmidt T, Han­sel J, Leh­mann-Horn F, Schöls L (2011). Ace­tazol­ami­de-respon­si­ve exer­ci­se-indu­ced epi­so­dic ata­xia asso­cia­ted with a novel homo­zy­gous DARS2 muta­ti­on. J Med Genet. 2011 Oct;48(10):713–5.


Biskup S (2010). Hoch­durch­satz-Sequen­zie­rung in der Human­ge­ne­ti­schen Dia­gnos­tik / Next-genera­ti­on sequen­cing in gene­tic dia­gnostics. Jour­nal of Labo­ra­to­ry Medi­ci­ne. Nov, Band 34, Nr. 6, 305–309.


Haack TB, Dan­hau­ser K, Haber­ber­ger B, Hoser J, Stre­cker V, Boehm D, Uziel G, Laman­tea E, Inver­niz­zi F, Poul­ton J, Rolin­ski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wit­tig I, Mei­t­in­ger T, Zevia­ni M, Pro­kisch H. (2010). Exo­me sequen­cing iden­ti­fies ACAD9 muta­ti­ons as a cau­se of com­plex I defi­ci­en­cy. Nat Genet. 2010 Dec;42(12):1131–4.


Haebig K, Glo­eck­ner CJ, Miral­les MG, Gil­lar­don F, Schul­te C, Riess O, Uef­fing M, Biskup S, Bonin M. (2010). ARHGEF7 (BETA-PIX) Acts as Gua­ni­ne Nucleo­ti­de Exchan­ge Fac­tor for Leu­ci­ne-Rich Repeat Kina­se 2. PLoS One. 29;5(10):e13762.