Veröffentlichungen

Plat­zer K, Sticht H, Edwards SL, Allen W, Angio­ne KM, Bona­ti MT, Bra­sing­ton C, Cho MT, Dem­mer LA, Falik-Zac­cai T, Gam­ble CN, Hel­len­broich Y, Ias­co­ne M, Kok F, Mahi­da S, Man­del H, Mar­quardt T, McWal­ter K, Panis B, Pep­ler A, Pinz H, Ramos L, Shin­de DN, Smith-Hicks C, Steg­mann APA, Stö­be P, Stum­pel CTRM, Wil­son C, Lem­ke JR, Di Dona­to N, Mil­ler KG, Jam­ra R.De Novo Vari­ants in MAPK8IP3 Cau­se Intel­lec­tu­al Disa­bi­li­ty with Varia­ble Brain Ano­ma­li­es. Am J Hum Genet. 2018 Dec 31. pii: S0002-9297(18)30459–2. doi: 10.1016/j.ajhg.2018.12.008. [Epub ahead of print] PMID: 30612693 [PubMed — as sup­plied by publisher]


Sche­ne IF, Koren­ke CG, Hui­de­ko­per HH, van der Pol L, Dooi­jes D, Breur JMPJ, Biskup S, Fuchs SA, Vis­ser G.Gly­co­gen Sto­rage Disea­se Type IV: A Rare Cau­se for Neu­ro­mus­cu­lar Dis­or­ders or Often Mis­sed? JIMD Rep. 2018 Dec 20. doi: 10.1007/8904_2018_148. [Epub ahead of print] PMID: 30569318 [PubMed — as sup­plied by publisher]


Strehlow V, Hey­ne HO, Vlas­kamp DRM, Mar­wick KFM, Rudolf G, de Bel­le­sci­ze J, Biskup S, Bril­s­tra EH, Brou­wer OF, Cal­len­bach PMC, Hent­schel J, Hirsch E, Kind PC, Mignot C, Plat­zer K, Rump P, Ske­hel PA, Wyl­lie DJA; GRIN2A stu­dy group , Har­ding­ham GE, van Ravens­waaij-Arts CMA, Les­ca G, Lem­ke JR. GRIN2A-rela­ted dis­or­ders: geno­ty­pe and func­tio­n­al con­se­quence pre­dict phe­no­ty­pe. Brain. 2018 Dec 12. doi: 10.1093/brain/awy304. [Epub ahead of print] PMID: 30544257 [PubMed — as sup­plied by publisher]


Zagaglia S, Selch C, Nis­e­vic JR, Mei D, Mich­alak Z, Her­nan­dez-Her­nan­dez L, Kri­thi­ka S, Vezy­ro­glou K, Vara­dkar SM, Pep­ler A, Biskup S, Leão M, Gärt­ner J, Mer­ken­schla­ger A, Jaksch M, Møl­ler RS, Gar­del­la E, Kris­ti­an­sen BS, Han­sen LK, Vari MS, Hel­big KL, Desai S, Smith-Hicks CL, Hino-Fuku­yo N, Tal­vik T, Lau­ge­saar R, Ilves P, Õunap K, Kör­ber I, Hart­lieb T, Kuder­natsch M, Wink­ler P, Schim­mel M, Has­se A, Knuf M, Hei­nemey­er J, Makow­ski C, Ghe­dia S, Sub­ra­ma­ni­an GM, Stria­no P, Tho­mas RH, Micall­ef C, Thom M, Wer­ring DJ, Klu­ger GJ, Cross JH, Guer­ri­ni R, Bale­stri­ni S, Sisodi­ya SM. Neu­ro­lo­gic phe­no­ty­pes asso­cia­ted with COL4A1/2 muta­ti­ons: Expan­ding the spec­trum of disea­se. Neu­ro­lo­gy. 2018 Nov 9. pii: 10.1212/WNL.0000000000006567. doi: 10.1212/WNL.0000000000006567. [Epub ahead of print]. PMID: 30413629 [PubMed — as sup­plied by publisher].


Hel­big KL, Laue­rer RJ, Bahr JC, Sou­za IA, Myers CT, Uysal B, Schwarz N, Gan­di­ni MA, Huang S, Keren B, Mignot C, Afen­jar A, Bil­let­te de Vil­lemeur T, Héron D, Nava C, Valence S, Bur­at­ti J, Fager­berg CR, Soeren­sen KP, Kibaek M, Kams­teeg EJ, Koo­len DA, Gun­ning B, Schel­haas HJ, Kru­er MC, Fox J, Bakhtia­ri S, Jar­rar R, Padil­la-Lopez S, Lind­strom K, Jin SC, Zeng X, Bil­gu­var K, Papa­va­si­lei­ou A, Xin Q, Zhu C, Boy­sen K, Vai­ro F, Lan­pher BC, Klee EW, Til­le­ma JM, Pay­ne ET, Cou­sin MA, Kru­is­sel­brink TM, Wick MJ, Baker J, Haan E, Smith N, Cor­bett MA, MacLenn­an AH, Gecz J, Biskup S, Gold­mann E, Rodan LH, Kichu­la E, Segal E, Jack­son KE, Asa­mo­ah A, Dim­mock D, McCar­ri­er J, Bot­to LD, Fill­oux F, Tvrdik T, Casci­no GD, Klin­ger­man S, Neu­mann C, Wang R, Jacob­sen JC, Nolan MA, Snell RG, Leh­nert K, Sad­leir LG, Ander­lid BM, Kvar­nung M, Guer­ri­ni R, Friez MJ, Lyons MJ, Leon­hard J, Kring­len G, Casas K, El Ach­kar CM, Smith LA, Roten­berg A, Podu­ri A, San­chis-Juan A, Carss KJ, Ran­kin J, Zeman A, Ray­mond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hug­hes I, Banka S; Deci­phe­ring Deve­lop­men­tal Dis­or­ders Stu­dy, Hed­rich UBS, Schef­fer IE, Hel­big I, Zam­po­ni GW, Ler­che H, Mef­ford HC. De Novo Patho­ge­nic Vari­ants in CACNA1E Cau­se Deve­lop­men­tal and Epi­lep­tic Ence­pha­lo­pa­thy with Con­trac­tures, Macro­ce­pha­ly, and Dys­ki­ne­si­as. Am J Hum Genet. 2018 Oct 10. pii: S0002-9297(18)30317–3. doi: 10.1016/j.ajhg.2018.09.006. [Epub ahead of print] PMID: 30343943 [PubMed — as sup­plied by publisher].


Metz KA, Teng X, Cop­pens I, Lamb HM, Wag­ner BE, Rosen­feld JA, Chen X, Zhang Y, Kim HJ, Mea­dow ME, Wang TS, Haber­landt ED, Ander­son GW, Leshin­sky-Sil­ver E, Bi W, Mar­kel­lo TC, Pratt M, Makhseed N, Gar­ni­ca A, Danyl­chuk NR, Bur­row TA, Jaya­kar P, McK­night D, Aga­di S, Gbe­da­wo H, Stan­ley C, Alber M,Prehl I, Peari­so K, Ong MT, Mor­de­kar SR, Par­ker MJ, Crooks D, Agra­wal PB, Ber­ry GT, Lod­denk­em­per T, Yang Y, Maega­wa GHB, Aou­ache­ria A, Mark­le JG, Wohl­schle­gel JA, Hart­man AL, Hard­wick JM. KCTD7 defi­ci­en­cy defi­nes a dis­tinct neu­ro­de­ge­ne­ra­ti­ve dis­or­der with a con­ser­ved auto­pha­gy-lys­o­so­me defect. Ann Neu­rol. 2018 Oct 8. doi: 10.1002/ana.25351. [Epub ahead of print] PMID: 30295347 [PubMed — as sup­plied by publisher].


Tra­schütz A, Hay­er SN, Ben­der B, Schöls L, Biskup S, Syn­of­zik M. TSFM muta­ti­ons cau­se a com­plex hyper­ki­ne­tic move­ment dis­or­der with strong reli­ef by can­na­bi­no­ids. Par­kin­so­nism Relat Dis­ord. 2018 Sep 29. pii: S1353-8020(18)30427–9. doi: 10.1016/j.parkreldis.2018.09.031. [Epub ahead of print] No abs­tract avail­ab­le. PMID: 30297209 [PubMed — as sup­plied by publisher].


Roo­vers EF, Kaaij LJT, Redl S, Bron­khorst AW, Wie­brands K, de Jesus Dom­in­gues AM, Huang HY, Han CT, Rie­mer S, Dosch R, Sal­ven­mo­ser W, Grün D, But­ter F, van Oudenaar­den A, Ket­ting RF. Tdrd6a Regu­la­tes the Aggre­ga­ti­on of Buc into Func­tio­n­al Sub­cel­lu­lar Com­part­ments that Dri­ve Germ Cell Spe­ci­fi­ca­ti­on. Dev Cell. 2018 Aug 6;46(3):285–301.e9. doi: 10.1016/j.devcel.2018.07.009. PMID: 30086300 [PubMed — in pro­cess].


Weis­schuh N, Stingl K, Audo I, Biskup S, Boc­quet B, Bran­ham K, Bur­stedt MS, De Bae­re E, De Vries MJ, Golov­le­va I, Green A, Hecken­li­vely J, Leroy BP, Meu­nier I, Tra­boul­si E, Wis­sin­ger B, Kohl S. Muta­ti­ons in the gene PDE6C enco­ding the cata­ly­tic sub­u­nit of the cone pho­to­re­cep­tor phos­pho­dies­terase in pati­ents with achro­mat­op­sia. Hum Mutat. 2018 Aug 6. doi: 10.1002/humu.23606. [Epub ahead of print] PMID: 30080950 [PubMed — as sup­plied by publisher].


Navar­ro More­no C, Deles­ti­en­ne A, Mar­baix E, Aydin S, Hört­na­gel K, Lech­ner S, Szna­jer Y, Beau­loye V, Mai­ter D, Lysy PA. Fami­li­al Forms of Cus­hing Syn­dro­me in Pri­ma­ry Pig­men­ted Nodu­lar Adre­no­cor­ti­cal Disea­se Pre­sen­ting with Short Sta­tu­re and Ins­idious Sym­ptoms: A Cli­ni­cal Series. Horm Res Paediatr. 2018 Jun 15:1–11. doi: 10.1159/000488761. [Epub ahead of print] PMID: 29909407 [PubMed — as sup­plied by publisher].


Zobor D, Zobor G, Hipp S, Bau­mann B, Weis­schuh N, Biskup S, Slie­s­orai­ty­te I, Zren­ner E, Kohl S. Phe­no­ty­pe Varia­ti­ons Cau­sed by Muta­ti­ons in the RP1L1 Gene in a Lar­ge Main­ly Ger­man Cohort. Invest Oph­thal­mol Vis Sci. 2018 Jun 1;59(7):3041–3052. doi: 10.1167/iovs.18–24033. PMID: 30025130 [PubMed — in pro­cess].


Ter­müh­len J, Alex AF, Glöck­le N, Kell­ner U, Fied­ler B, Eter N, Uhlig CE. A new muta­ti­on in enhan­ced S-cone syn­dro­me. Acta Oph­thal­mol. 2018 Jun;96(4):e539-e540. doi: 10.1111/aos.13205. Epub 2016 Aug 29. No abs­tract avail­ab­le. PMID: 27573156 [PubMed — inde­xed for MEDLINE].


Nas­ser F, Weis­schuh N, Maff­ei P, Milan G, Hel­ler C, Zren­ner E, Kohl S, Kueh­le­wein L. Oph­thal­mic fea­tures of cone-rod dys­tro­phy cau­sed by patho­ge­nic vari­ants in the ALMS1 gene. Acta Oph­thal­mol. 2018 Jun;96(4):e445-e454. doi: 10.1111/aos.13612. Epub 2017 Nov 30. PMID: 29193673 [PubMed — inde­xed for MEDLINE].


Tho­mas C, Zühls­dorf A, Hört­na­gel K, Mulaha­s­a­no­vic L, Grau­er OM, Küm­pers P, Wiendl H, Meuth SG. A Novel PKD1 Muta­ti­on Asso­cia­ted With Auto­so­mal Domi­nant Kid­ney Disea­se and Cere­b­ral Caver­nous Mal­for­ma­ti­on. Front Neu­rol. 2018 May 25;9:383. doi: 10.3389/fneur.2018.00383. eCollec­tion 2018. PMID: 29887830 [PubMed].


Poma­ri­no D, Mar­tin S, Poma­ri­no A, Mori­ge­au S, Biskup S. McArdle’s disea­se: A dif­fe­ren­ti­al dia­gno­sis of idio­pa­thic toe wal­king. J Orthop. 2018 May 8;15(2):685–689. doi: 10.1016/j.jor.2018.05.024. eCollec­tion 2018 Jun. PMID: 29881221 [PubMed].


Waw­ro­cka A, Skor­c­zyk-Wer­ner A, Wicher K, Nied­zie­la Z, Ploski R, Ryd­za­nicz M, Sykul­ski M, Kociecki J, Weis­schuh N, Kohl S, Biskup S, Wis­sin­ger B, Kraw­c­zyn­ski MR. Novel vari­ants iden­ti­fied with next-genera­ti­on sequen­cing in Polish pati­ents with cone-rod dys­tro­phy. Mol Vis. 2018 Apr 26;24:326–339. eCollec­tion 2018. PMID: 29769798 [PubMed — in pro­cess].


Ryd­ning SL, Dude­sek A, Rim­me­le F, Fun­ke C, Krü­ger S, Biskup S, Vige­land MD, Hjort­h­aug HS, Sejer­sted Y, Tal­lak­sen C, Sel­mer KK, Kamm C. A novel hete­ro­zy­gous vari­ant in ERLIN2 cau­ses auto­so­mal domi­nant pure her­edita­ry spastic para­ple­gia. Eur J Neu­rol. 2018 Mar 12. doi: 10.1111/ene.13625. [Epub ahead of print] PMID: 29528531 [PubMed — as sup­plied by publisher].


Wal­ter D, Har­ter PN, Batt­ke F, Win­kel­mann R, Schnei­der M, Hol­zer K, Koch C, Bojun­ga J, Zeu­zem S, Hans­mann ML, Peve­ling-Ober­hag J, Waid­mann O. Gene­tic hete­ro­gen­ei­ty of pri­ma­ry lesi­on and meta­sta­sis in small intes­ti­ne neu­ro­en­docri­ne tumors. Sci Rep. 2018 Feb 28;8(1):3811. doi: 10.1038/s41598-018–22115-0. PMID: 29491456 [PubMed — in pro­cess].


Sonn­tag K, Hash­i­mo­to H, Eyrich M, Men­zel M, Schub­ach M, Döcker D, Batt­ke F, Cou­ra­ge C, Lam­bertz H, Hand­g­re­tin­ger R, Biskup S, Schil­bach K. Immu­ne moni­to­ring and TCR sequen­cing of CD4 T cells in a long term respon­si­ve pati­ent with meta­sta­si­zed pan­crea­tic duc­tal car­ci­no­ma trea­ted with indi­vi­dua­li­zed, neo­epi­t­ope-deri­ved mul­ti­pep­ti­de vac­ci­nes: a case report. J Transl Med. 2018 Feb 6;16(1):23. doi: 10.1186/s12967-018‑1382-1. PMID: 29409514 [PubMed — in pro­cess].


Wil­ke C, Baets J, De Ble­ecker JL, Deco­ninck T, Biskup S, Hay­er SN, Züch­ner S, Schü­le R, De Jonghe P, Syn­of­zik M. Bey­ond ALS and FTD: the phe­no­ty­pic spec­trum of TBK1 muta­ti­ons inclu­des PSP-like and cere­bel­lar phe­no­ty­pes. Neu­ro­bi­ol Aging. 2018 Feb;62:244.e9-244.e13. doi: 10.1016/j.neurobiolaging.2017.10.010. Epub 2017 Oct 24. PMID: 29137817 [PubMed — inde­xed for MEDLINE].


Hof­sta­et­ter C, Cou­ra­ge C, Bar­thol­di D, Biskup S, Raio L. Pre­na­tal dia­gno­sis of dia­pha­no­s­pon­dy­l­o­dyso­sto­sis (DSD): a case report. Clin Case Rep. 2018 Jan 17;6(2):420–425. doi: 10.1002/ccr3.1368. eCollec­tion 2018 Feb. PMID: 29445489 [PubMed].


Schän­zer A, Rupp S, Gräf S, Zen­ge­ler D, Jux C, Akin­türk H, Gulatz L, Maz­ha­ri N, Acker T, Van Cos­ter R, Gar­val­ov BK, Hahn A. Dys­re­gu­la­ted auto­pha­gy in restric­tive car­dio­myo­pa­thy due to Pro209Leu muta­ti­on in BAG3. Mol Genet Metab. 2018 Jan 6. pii: S1096-7192(17)30596–6. doi: 10.1016/j.ymgme.2018.01.001. [Epub ahead of print] PMID: 29338979 [PubMed — as sup­plied by publisher].


Mit­ter D, Pringsheim M, Kau­lisch M, Plüma­cher KS, Schrö­der S, War­the­mann R, Abou Jam­ra R, Baeth­mann M, Bast T, Büt­tel HM, Cohen JS, Cono­ver E, Cou­ra­ge C, Eger A, Fatemi A, Gre­be TA, Hau­ser NS, Hein­ritz W, Hel­big KL, Heruth M, Huh­le D, Höft K, Karch S, Klu­ger G, Koren­ke GC, Lem­ke JR, Lutz RE, Pat­zer S, Prehl I, Hoert­na­gel K, Ram­sey K, Rating T, Rieß A, Rohena L, Schim­mel M, West­man R, Zech FM, Zoll B, Mal­zahn D, Zirn B, Brock­mann K. FOXG1 syn­dro­me: geno­ty­pe-phe­no­ty­pe asso­cia­ti­on in 83 pati­ents with FOXG1 vari­ants. Genet Med. 2018 Jan;20(1):98–108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29. PMID: 28661489 [PubMed — inde­xed for MEDLINE].


Tomci­ko­va D, Geri­nec A, Bus­an­yo­va B, Gres­iko­va M, Biskup S, Hort­na­gel K. Why is it necessa­ry to exami­ne reti­na when the pati­ent suf­fers from aplastic anemia? Bra­tisl Lek Lis­ty. 2018;119(5):275–277. doi: 10.4149/BLL_2018_051. PMID: 29749240 [PubMed — in pro­cess].


Cata­ri­no CB, Voll­mar C, Küp­per C, See­los K, Gal­len­mül­ler C, Bart­kie­wicz J, Biskup S, Hört­na­gel K, Klopstock T. Brain dif­fu­si­on ten­sor ima­ging chan­ges in cere­bro­ten­din­ous xan­tho­ma­to­sis rever­sed with tre­at­ment. J Neu­rol. 2017 Dec 19. Doi: 10.1007/s00415-0178711–9. [Epub ahead of print] PMID: 29260356 [PubMed- as sup­plied by publisher].


Dohrn MF, Glöck­le N, Mulaha­s­a­no­vic L, Hel­ler C, Mohr J, Bau­er C, Riesch E, Becker A, Batt­ke F, Hört­na­gel K, Hor­n­e­mann T, Suri­ya­n­ara­ya­n­an S, Blan­ken­burg M, Schulz JB, Claeys KG, Gess B, Kato­na I, Fer­bert A, Vit­to­re D, Grimm A, Wol­king S, Schöls L, Ler­che H, Koren­ke GC, Fischer D, Schrank B, Kotzae­r­i­dou U, Kur­le­mann G, Drä­ger B, Schirma­cher A, Young P, Schlot­ter-Weigel B, Biskup S. Fre­quent genes in rare disea­ses: panel-based next genera­ti­on sequen­cing to dis­c­lo­se cau­sal muta­ti­ons in her­edita­ry neu­ro­pa­thies. J Neu­ro­chem. 2017 Dec;143(5):507–522. doi: 10.1111/jnc.14217.Epub 2017 Nov 7. PMID:28902413 [PubMed – ende­xed for MEDLINE].


Bock AS, Gün­ther S, Mohr J, Gold­berg LV, Jahic A, Klisch C, Hüb­ner CA, Biskup S, Beetz C. A non­stop vari­ant in REEP1 cau­ses peri­pheral neu­ro­pa­thy by unmas­king a 3’UTR-encoded, aggre­ga­ti­on-indu­cing motif. Hum Mutat. 2017 Nov 9. doi: 10.1002/humu.23369. [Epub ahead of print].


Nitu­rad CE, Lev D, Kal­scheu­er VM, Char­zew­s­ka A, Schu­bert J, Ler­man-Sagie T, Kroes HY, Oegema R, Tra­ver­so M, Spec­chio N, Las­so­ta M, Chel­ly J, Ben­nett-Back O, Car­mi N, Kof­f­ler-Brill T, Iaco­mi­no M, Tri­vi­sa­no M, Capo­vil­la G, Stria­no P, Nawa­ra M, Rzon­ca S, Fischer U, Bienek M, Jen­sen C, Hu H, Thie­le H, Alt­mül­ler J, Krau­se R, May P, Becker F; Euro­EPI­NO­MICS Con­sor­ti­um, Bal­ling R, Biskup S, Haas SA, Nürn­berg P, van Gas­sen KLI, Ler­che H, Zara F, Mal­je­vic S, Leshin­sky-Sil­ver E. Rare GABRA3 vari­ants are asso­cia­ted with epi­lep­tic sei­zu­res, ence­pha­lo­pa­thy and dys­mor­phic fea­tures.Brain. 2017 Oct 7. doi: 10.1093/brain/awx236. [Epub ahead of print]PMID: 29053855.


Moawia A, Shahe­en R, Raso­ol S, Waseem SS, Ewi­da N, Bud­de B, Kawa­lia A, Mota­meny S, Khan K, Fati­ma A, Jameel M, Ullah F, Akram T, Ali Z, Abdul­lah U, Irshad S, Höh­ne W, Noe­gel AA, Al-Owain M, Hört­na­gel K, Stö­be P, Baig SM, Nürn­berg P, Alku­ra­ya FS, Hahn A, Hus­sain MS. Muta­ti­ons of KIF14 Cau­se Pri­ma­ry Micro­ce­pha­ly by Impai­ring Cyto­ki­ne­sis. Ann Neu­rol. 2017 Sep 11. doi: 10.1002/ana.25044.


Syr­be S, Harms FL, Par­ri­ni E, Mon­to­mo­li M, Müt­ze U, Hel­big KL, Pols­ter T, Albrecht B, Bern­beck U, van Bins­ber­gen E, Biskup S, Bur­g­len L, Den­ecke J, Heron B, Hey­ne HO, Hoff­mann GF, Hor­n­e­mann F, Matsus­hi­ge T, Matsu­ura R, Kato M, Koren­ke GC, Kuech­ler A, Läm­mer C, Mer­ken­schla­ger A, Mignot C, Ruf S, Naka­shi­ma M, Saitsu H, Stam­ber­ger H, Pisa­no T, Tohya­ma J, Weck­huy­sen S, Werckx W, Wickert J, Mari F, Ver­beek NE, Møl­ler RS, Koe­le­man B, Mats­u­m­o­to N, Dobyns WB, Batta­glia D, Lem­ke JR, Kut­sche K, Guer­ri­ni R. Deli­nea­ting SPTAN1 asso­cia­ted phe­no­ty­pes: from iso­la­ted epi­le­psy to ence­pha­lo­pa­thy with pro­gres­si­ve brain atro­phy.Brain. 2017 Sep 1;140(9):2322–2336. doi: 10.1093/brain/awx195. PMID: 29050398.


Cata­ri­no CB, Aht­ing U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livo­ni­us B, Pro­kisch H, Klopstock T. Cha­rac­te­ri­za­ti­on of a Leber’s her­edita­ry optic neu­ro­pa­thy (LHON) fami­ly har­bo­ring two pri­ma­ry LHON muta­ti­ons m.11778G>A and m.14484T>C of the mito­chon­dri­al DNA. Mito­chon­dri­on. 2017 Sep;36:15–20. doi: 10.1016/j.mito.2016.10.002. Epub 2016 Oct 6. PMID: 27721048 [PubMed — inde­xed for MEDLINE].


Her­mann A, Kitz­ler HH, Poll­ack T, Biskup S, Krü­ger S, Fun­ke C, Ter­ri­le C, Haack TB. A Case of Beta-pro­pel­ler Pro­te­in-asso­cia­ted Neu­ro­de­ge­ne­ra­ti­on due to a Hete­ro­zy­gous Dele­ti­on of WDR45.Tre­mor Other Hyper­ki­net Mov (N Y). 2017 Aug 8;7:465. doi: 10.7916/D8251WB0. eCollec­tion 2017. PMID: 29082105 [PubMed — inde­xed for MEDLINE].


Mon­ta­gne­se F, Klupp E, Karam­pi­nos DC,Biskup S, Glä­ser D, Kirsch­ke JS, Scho­ser B. Two pati­ents with GMPPB muta­ti­on: The over­lap­ping phe­no­ty­pes of limb-gird­le myas­the­nic syn­dro­me and limb-gird­le mus­cu­lar dys­tro­phy dys­tro­gly­ca­no­pa­thy.Mus­cle Ner­ve. 2017 Aug;56(2):334–340. doi: 10.1002/mus.25485. Epub 2017 Feb 23.


Stingl K, May­er AK, Lla­vo­na P, Mulaha­s­a­no­vic L, Rudolph G, Jacob­son SG, Zren­ner E, Kohl S, Wis­sin­ger B, Weis­schuh N. CDHR1 muta­ti­ons in reti­nal dys­tro­phies. Sci Rep. 2017 Aug 1;7(1):6992. doi: 10.1038/s41598-017–07117-8.


Blau­wen­draat C, Wil­ke C, Simón-Sán­chez J, Jan­sen IE, Reif­schnei­der A, Capell A, Haass C, Cas­til­lo-Liz­ar­do M, Biskup S, Maetz­ler W, Riz­zu P, Heu­tink P, Syn­of­zik M. The wide gene­tic land­s­cape of cli­ni­cal fron­to­tem­po­ral demen­tia: sys­te­ma­tic com­bi­ned sequen­cing of 121 con­se­cu­ti­ve sub­jec­ts. Genet Med. 2017 Jul 27. doi: 10.1038/gim.2017.102. [Epub ahead of print] PMID: 28749476.


Smo­ga­vec M, Zschünt­zsch J, Kress W, Mohr J, Hel­len P, Zoll B, Pau­li S, Schmidt J. Novel fuku­tin muta­ti­ons in limb-gird­le mus­cu­lar dys­tro­phy type 2M with child­hood onset. Neu­rol Genet. 2017 Jul 10;3(4):e167. doi: 10.1212/NXG.0000000000000167. eCollec­tion 2017 Aug.


Mit­ter D, Pringsheim M, Kau­lisch M, Plüma­cher KS, Schrö­der S, War­the­mann R, Abou Jam­ra R, Baeth­mann M, Bast T, Büt­tel HM, Cohen JS, Cono­ver E, Cou­ra­ge C, Eger A, Fatemi A, Gre­be TA, Hau­ser NS, Hein­ritz W, Hel­big KL, Heruth M, Huh­le D, Höft K, Karch S, Klu­ger G, Koren­ke GC, Lem­ke JR, Lutz RE, Pat­zer S, Prehl I, Hoert­na­gel K, Ram­sey K, Rating T, Rieß A, Rohena L, Schim­mel M, West­man R, Zech FM, Zoll B, Mal­zahn D, Zirn B, Brock­mann K. FOXG1 syn­dro­me: geno­ty­pe-phe­no­ty­pe asso­cia­ti­on in 83 pati­ents with FOXG1 vari­ants. Genet Med. 2017 Jun 29. doi: 10.1038/gim.2017.75. [Epub ahead of print] PMID: 28661489.


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Karin I, Borg­grae­fe I, Cata­ri­no CB, Kuhm C, Hört­na­gel K, Biskup S, Opla­den T, Blau N, Hei­nen F, Klopstock T. (2017). Foli­nic acid the­ra­py in cere­b­ral fola­te defi­ci­en­cy: mar­ked impro­ve­ment in an adult pati­ent. J Neu­rol. 2017 Jan 4. doi: 10.1007/s00415-016‑8387-6. PMID: 28054128.


Schu­bert V, Auf­fen­berg E, Biskup S, Jur­kat-Rott K, Frei­lin­ger T. Two novel fami­lies with hemi­ple­gic migrai­ne cau­sed by recur­rent SCN1A muta­ti­on p.F1499L. Cepha­l­al­gia. 2017 Jan 1:333102417742365. doi: 10.1177/0333102417742365. [Epub ahead of print].


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Rem­pe T, Kuh­len­bäu­mer G, Krü­ger S, Biskup S, Matsch­ke J, Hagel C, Deu­schl G, van Eime­ren T. (2016). Ear­ly-onset par­kin­so­nism due to com­po­und hete­ro­zy­gous POLG muta­ti­ons. Par­kin­so­nism Relat Dis­ord. 2016 Apr 27. pii: S1353-8020(16)30124–9. doi: 10.1016/j.parkreldis.2016.04.020.


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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.


von Stülp­na­gel C, Fun­ke C, Haberl C, Hört­na­gel K, Jüng­ling J, Weber YG, Staudt M, Klu­ger G. (2015). SYNGAP1 Muta­ti­on in Focal and Gene­ra­li­zed Epi­le­psy: A Lite­ra­tu­re Over­view and A Case Report with Spe­cial Aspec­ts of the EEG. Neuro­pe­diatrics. 2015 Aug;46(4):287–91. doi: 10.1055/s-0035–1554098. PMID: 26110312.


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, Kern­land-Lang K, Hört­na­gel K, Itin P. (2014). Mono­ge­nic human skin dis­or­ders. Der­ma­to­lo­gy. 2014;229(2):55–64. doi: 10.1159/000362200. PMID: 25012694.


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


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.


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.


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.


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.


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.


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.


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, 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.


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.


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.


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.


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


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


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, 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.