Publications

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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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. Read abstract here.


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. Read abstract here.


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. Read abstract here.


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]. Read abstract here.


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]. Read abstract here.


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. Read abstract here.


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. Read abstract here.


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. Read abstract here.


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. Read abstract here.


Weber YG, Biskup S, Helbig KL, Von Spiczak S, Lerche H. The role of genetic testing in epilepsy diagnosis and management. Expert Rev Mol Diagn. 2017 Jun 26:1-12. doi: 10.1080/14737159.2017.1335598. [Epub ahead of print] PMID: 28548558. Read abstract here.


Von Stülpnagel C, Ensslen M, Møller RS, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartlieb T, Herberhold T, Hughes E, Koch M, Kutzer C, Hörtnagel K, Nitanda J, Pohl M, Rostásy K, Haack TB, Stöhr K, Kluger G, Borggraefe I. Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs. Eur J Paediatr Neurol. 2017 May;21(3):530-541. doi: 10.1016/j.ejpn.2017.01.001. Epub 2017 Jan 14. PMID: 28109652 [PubMed – indexed for MEDLINE]. Read abstract here.


Feldhaus B, Kohl S, Hörtnagel K, Weisschuh N, Zobor D. Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family. Ophthalmic Genet. 2017 May 8:1-4. doi: 10.1080/13816810.2017.1318925. PMID: 28424919.


Grimm A, Winter N, Wolking S, Vittore D, Biskup S, Axer H. Nerve enlargement in an unusual case of inflammatory neuropathy and new gene mutation-morphology is the key. Ophthalmic Genet. 2017 May 8:1-4. doi: 10.1080/13816810.2017.1318925. PMID: 28481129. Read abstract here.


Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. PMID: 28379373. Read abstract here.


Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR.GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet. 2017 Apr 4. pii: jmedgenet-2016-104509. doi: 10.1136/jmedgenet-2016-104509. PMID: 28377535. Read abstract here.


Logeswaran T, Friedburg C, Hofmann K, Akintuerk H, Biskup S, Graef M, Rad A, Weber A, Neubauer BA, Schranz D, Bouvagnet P, Lorenz B, Hahn A. (2017). Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.Am J Med Genet A. 2017 Apr;173(4):959-965. doi: 10.1002/ajmg.a.38102. Read abstract here.


Hoelz H, Coppenrath E, Hoertnagel K, Roser T, Tacke M, Gerstl L, Borggraefe I, Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation.Clin EEG Neurosci. 2017 Mar 1:1550059417697841. doi: 10.1177/1550059417697841. [Epub ahead of print]. Read abstract here.


Walter D, Döring C, Feldhahn M, Battke F, Hartmann S, Winkelmann R, Schneider M, Bankov K, Schnitzbauer A, Zeuzem S, Hansmann ML, Peveling-Oberhag J. Intratumoral heterogeneity of intrahepatic cholangiocarcinoma.Oncotarget. 2017 Feb 28;8(9):14957-14968. doi: 10.18632/oncotarget.14844.PMID: 28146430. Read abstract here.


von Stülpnagel C, Ensslen M, Møller RS, Pal DK, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartlieb T, Herberhold T, Hughes E, Koch M, Kutzer C, Hörtnagel K, Nitanda J, Pohl M, Rostásy K, Haack TB, Stöhr K, Kluger G, Borggraefe I. (2017). Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs. Eur J Paediatr Neurol. 2017 Jan 14. doi: 10.1016/j.ejpn.2017.01.001. PMID: 28109652. Read abstract here.


Michelis JP, Hattingen E, Gaertner FC, Minnerop M, Träber F, Biskup S, Klockgether T, Paus S. (2017). Expanded phenotype and hippocampal involvement in a novel compound heterozygosity of adult PLA2G6 associated neurodegeneration (PARK14). Parkinsonism Relat Disord. 2017 Jan 10. doi: 10.1016/j.parkreldis.2017.01.005. PMID: 28094106.


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]. Read abstract here.


Bonifert T, Gonzalez Menendez I, Battke F, Theurer Y, Synofzik M, Schöls L, Wissinger B. Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1. Mol Ther Nucleic Acids. 2016 Nov 22;5(11):e390. doi: 10.1038/mtna.2016.93.


Linnebank M, McDougall CG, Krüger S, Biskup S, Neumann M, Weller M, Valavanis A, Prudlo J. (2016). Novel cases of amyotrophic lateral sclerosis after treatment of cerebral arteriovenous malformationss. Swiss Med Wkly. 2016 Nov 12;146:w14361. doi: 10.4414/smw.2016.14361. Read abstract here.


Krüger S, Battke F, Sprecher A, Munz M, Synofzik M, Schöls L, Gasser T, Grehl T, Prudlo J, Biskup S. (2016). Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort. Front Mol Neurosci. 2016 Oct 13;9:92. PMID: 27790088. Read abstract here.


Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ. (2016). GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. Am J Hum Genet. 2016 Oct 6;99(4):802-816. doi: 10.1016/j.ajhg.2016.07.013. PMID: 27616483.


Mohammad S, Wolfe LA, Stöbe P, Biskup S, Wainwright MS, Melin-Aldana H, Malladi P, Muenke M, Gahl WA, Whitington PF. (2016). Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B. J Pediatr. 2016 Sep 15. pii: S0022-3476(16)30722-3. doi: 10.1016/j.jpeds.2016.08.043. PMID: 27640355.


Hogrebe M, Murakami Y, Wild M, Ahlmann M, Biskup S, Hörtnagel K, Grüneberg M, Reunert J, Linden T, Kinoshita T, Marquardt T. (2016). A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. Am J Med Genet A. 2016 Sep 14. doi: 10.1002/ajmg.a.37950. PMID: 27626616.


Syrbe S, Zhorov BS, Bertsche A, Bernhard MK, Hornemann F, Mütze U, Hoffmann J, Hörtnagel K, Kiess W, Hirsch FW, Lemke JR, Merkenschlager A. (2016). Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A. Mol Syndromol. 2016 Sep;7(4):182-188. PMID: 27781028.


Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad C, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S. (2016). Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Neurology. 2016 Aug 12. pii: 10.1212/WNL.0000000000003087.


Hörtnagel K, Krägeloh-Mann I, Bornemann A, Döcker M, Biskup S, Mayrhofer H, Battke F, du Bois G, Harzer K. (2016). The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement. J Inherit Metab Dis. 2016 Jul 29. PMID: 27473128.


Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, Hörtnagel K, Schlüter A, Ruiz M, Pujol A, Züchner S, Riess O, Schüle R, Bauer P, Schöls L. (2016). Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. 2016 Jul 12;87(2):186-91. doi: 10.1212/WNL.0000000000002843. Epub 2016 Jun 17.


Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM. (2016). TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology.2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8. PMID: 27281533.


Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S. (2016). Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology. 2016 May 6. pii: 10.1212/WNL.0000000000002740.


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.


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.


Fradin M, Colin E, Hannouche-Bared D, Audo I, Sahel JA, Biskup S, Carré W, Ziegler A, Wilhelm C, Guichet A, Odent S, Bonneau D. (2016). Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45. Ophthalmic Genet. 2016 Feb 22:1-4.


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.


Wilke C, Gillardon F, Deuschle C, Dubois E, Hobert MA, Vom Hagen JM, Krüger S, Biskup S, Blauwendraat C, Hruscha M, Kaeser SA, Heutink P, Maetzler W, Synofzik M. (2016). Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease. Curr Alzheimer Res. 2016;13(6):654-62.


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.


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.