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Items: 1 to 50 of 152

1.

ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.

Gasser M, Boonsimma P, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Krenn M, Zimprich F, Milenkovic I, Abicht A, Biskup S, Roser T, Shotelersuk V, Tacke M, Kuersten M, Wagner M, Borggraefe I, Suphapeetiporn K, von Stülpnagel C.

J Clin Neurosci. 2020 Jan 17. pii: S0967-5868(19)31942-3. doi: 10.1016/j.jocn.2020.01.041. [Epub ahead of print]

PMID:
31959558
2.

Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations.

Stingl KT, Kuehlewein L, Weisschuh N, Biskup S, Cremers FPM, Khan MI, Kelbsch C, Peters T, Ueffing M, Wilhelm B, Zrenner E, Stingl K.

Transl Vis Sci Technol. 2019 Dec 20;8(6):45. doi: 10.1167/tvst.8.6.45. eCollection 2019 Nov.

3.

Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression.

Tremmel R, Klein K, Battke F, Fehr S, Winter S, Scheurenbrand T, Schaeffeler E, Biskup S, Schwab M, Zanger UM.

Hum Genet. 2020 Feb;139(2):137-149. doi: 10.1007/s00439-019-02093-7. Epub 2019 Nov 30.

PMID:
31786673
4.

Identification of a rare presenilin 1 single amino acid deletion mutation (F175del) with unusual amyloid-β processing effects.

Vöglein J, Willem M, Trambauer J, Schönecker S, Dieterich M, Biskup S, Giudici C, Utz K, Oberstein T, Brendel M, Rominger A, Danek A, Steiner H, Haass C, Levin J.

Neurobiol Aging. 2019 Dec;84:241.e5-241.e11. doi: 10.1016/j.neurobiolaging.2019.08.034. Epub 2019 Sep 20.

PMID:
31627977
5.

IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures.

Ganos C, Zittel S, Hidding U, Funke C, Biskup S, Bhatia KP.

Parkinsonism Relat Disord. 2019 Nov;68:57-59. doi: 10.1016/j.parkreldis.2019.09.020. Epub 2019 Sep 17. No abstract available.

PMID:
31621620
6.

Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.

Nasser F, Kurtenbach A, Biskup S, Weidensee S, Kohl S, Zrenner E.

Acta Ophthalmol. 2019 Oct 3. doi: 10.1111/aos.14255. [Epub ahead of print]

PMID:
31580008
7.

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.

Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, Schwartz O, Rust S, Grüneberg M, Seelhöfer A, Schara U, Boltshauser E, Spitz DR, Marquardt T.

Brain. 2019 Aug 1;142(8):2230-2237. doi: 10.1093/brain/awz182.

PMID:
31332433
8.

Tumor mutation burden and circulating tumor DNA in combined CTLA-4 and PD-1 antibody therapy in metastatic melanoma - results of a prospective biomarker study.

Forschner A, Battke F, Hadaschik D, Schulze M, Weißgraeber S, Han CT, Kopp M, Frick M, Klumpp B, Tietze N, Amaral T, Martus P, Sinnberg T, Eigentler T, Keim U, Garbe C, Döcker D, Biskup S.

J Immunother Cancer. 2019 Jul 12;7(1):180. doi: 10.1186/s40425-019-0659-0.

9.

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J.

Mol Biol Rep. 2019 Aug;46(4):4507-4516. doi: 10.1007/s11033-019-04906-4. Epub 2019 Jul 3.

PMID:
31270756
10.

PEDIA: prioritization of exome data by image analysis.

Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM.

Genet Med. 2019 Dec;21(12):2807-2814. doi: 10.1038/s41436-019-0566-2. Epub 2019 Jun 5.

11.

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.

Heyne HO, Artomov M, Battke F, Bianchini C, Smith DR, Liebmann N, Tadigotla V, Stanley CM, Lal D, Rehm H, Lerche H, Daly MJ, Helbig I, Biskup S, Weber YG, Lemke JR.

Genet Med. 2019 Nov;21(11):2496-2503. doi: 10.1038/s41436-019-0531-0. Epub 2019 May 6.

PMID:
31056551
12.

A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.

Suriyanarayanan S, Othman A, Dräger B, Schirmacher A, Young P, Mulahasanovic L, Hörtnagel K, Biskup S, von Eckardstein A, Hornemann T, Lone MA.

Neuromolecular Med. 2019 Jun;21(2):182-191. doi: 10.1007/s12017-019-08534-w. Epub 2019 Apr 6.

PMID:
30955194
13.

The Parkinson's disease-linked Leucine-rich repeat kinase 2 (LRRK2) is required for insulin-stimulated translocation of GLUT4.

Funk N, Munz M, Ott T, Brockmann K, Wenninger-Weinzierl A, Kühn R, Vogt-Weisenhorn D, Giesert F, Wurst W, Gasser T, Biskup S.

Sci Rep. 2019 Mar 14;9(1):4515. doi: 10.1038/s41598-019-40808-y.

14.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

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, Xing 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, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, 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.

Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. No abstract available.

15.

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.

Fan C, Kuhn M, Mbiol AP, Groome J, Winston V, Biskup S, Lehmann-Horn F, Jurkat-Rott K.

Acta Myol. 2018 Sep 1;37(3):193-203. eCollection 2018 Sep.

16.

Molecular tumor analysis and liquid biopsy: a feasibility investigation analyzing circulating tumor DNA in patients with central nervous system lymphomas.

Hickmann AK, Frick M, Hadaschik D, Battke F, Bittl M, Ganslandt O, Biskup S, Döcker D.

BMC Cancer. 2019 Mar 1;19(1):192. doi: 10.1186/s12885-019-5394-x.

17.

A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort.

Klein K, Tremmel R, Winter S, Fehr S, Battke F, Scheurenbrand T, Schaeffeler E, Biskup S, Schwab M, Zanger UM.

Front Genet. 2019 Jan 31;10:7. doi: 10.3389/fgene.2019.00007. eCollection 2019.

18.

Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.

Sandestig A, Green A, Jonasson J, Vogt H, Wahlström J, Pepler A, Ellnebo K, Biskup S, Stefanova M.

Mol Syndromol. 2019 Jan;9(5):259-265. doi: 10.1159/000492267. Epub 2018 Aug 9.

19.

Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation.

Nasser F, Mulahasanovic L, Alkhateeb M, Biskup S, Stingl K, Zrenner E.

Doc Ophthalmol. 2019 Apr;138(2):153-160. doi: 10.1007/s10633-019-09675-w. Epub 2019 Feb 1.

PMID:
30710256
20.

Oncogenic KRAS hotspot mutations are rare in IDH-mutant gliomas.

Schittenhelm J, Krischker N, Gepfner-Tuma I, Behling F, Noell S, Eckert F, Biskup S, Tabatabai G.

Brain Pathol. 2019 May;29(3):321-324. doi: 10.1111/bpa.12709. Epub 2019 Feb 1. No abstract available.

PMID:
30676672
21.

Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.

Kuehlewein L, Schöls L, Llavona P, Grimm A, Biskup S, Zrenner E, Kohl S.

Graefes Arch Clin Exp Ophthalmol. 2019 Mar;257(3):629-638. doi: 10.1007/s00417-018-04233-7. Epub 2019 Jan 17.

PMID:
30656474
22.

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

Schene IF, Korenke CG, Huidekoper HH, van der Pol L, Dooijes D, Breur JMPJ, Biskup S, Fuchs SA, Visser G.

JIMD Rep. 2019;45:99-104. doi: 10.1007/8904_2018_148. Epub 2018 Dec 20.

23.

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

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, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group.

Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304.

24.

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.

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.

Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9. Erratum in: Neurology. 2020 Jan 24;:.

25.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

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, Xing 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, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, 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.

Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2019 Mar 7;104(3):562.

26.

TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids.

Traschütz A, Hayer SN, Bender B, Schöls L, Biskup S, Synofzik M.

Parkinsonism Relat Disord. 2019 Mar;60:176-178. doi: 10.1016/j.parkreldis.2018.09.031. Epub 2018 Sep 29. No abstract available.

PMID:
30297209
27.

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.

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.

Hum Mutat. 2018 Oct;39(10):1366-1371. doi: 10.1002/humu.23606. Epub 2018 Aug 22.

28.

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.

Zobor D, Zobor G, Hipp S, Baumann B, Weisschuh N, Biskup S, Sliesoraityte I, Zrenner E, Kohl S.

Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):3041-3052. doi: 10.1167/iovs.18-24033.

PMID:
30025130
29.

McArdle's disease: A differential diagnosis of idiopathic toe walking.

Pomarino D, Martin S, Pomarino A, Morigeau S, Biskup S.

J Orthop. 2018 May 8;15(2):685-689. doi: 10.1016/j.jor.2018.05.024. eCollection 2018 Jun.

30.

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

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.

Mol Vis. 2018 Apr 26;24:326-339. eCollection 2018.

31.

Why is it necessary to examine retina when the patient suffers from aplastic anemia?

Tomcikova D, Gerinec A, Busanyova B, Gresikova M, Biskup S, Hortnagel K.

Bratisl Lek Listy. 2018;119(5):275-277. doi: 10.4149/BLL_2018_051.

PMID:
29749240
32.

De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.

Ambrosino P, Soldovieri MV, Bast T, Turnpenny PD, Uhrig S, Biskup S, Döcker M, Fleck T, Mosca I, Manocchio L, Iraci N, Taglialatela M, Lemke JR.

Ann Neurol. 2018 Jun;83(6):1198-1204. doi: 10.1002/ana.25248.

PMID:
29740868
33.

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C.

Eur J Neurol. 2018 Jul;25(7):943-e71. doi: 10.1111/ene.13625. Epub 2018 Apr 15.

PMID:
29528531
34.

Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.

Hofstaetter C, Courage C, Bartholdi D, Biskup S, Raio L.

Clin Case Rep. 2018 Jan 17;6(2):420-425. doi: 10.1002/ccr3.1368. eCollection 2018 Feb.

35.

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.

Sonntag K, Hashimoto H, Eyrich M, Menzel M, Schubach M, Döcker D, Battke F, Courage C, Lambertz H, Handgretinger R, Biskup S, Schilbach K.

J Transl Med. 2018 Feb 6;16(1):23. doi: 10.1186/s12967-018-1382-1.

36.

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

Catarino CB, Vollmar C, Küpper C, Seelos K, Gallenmüller C, Bartkiewicz J, Biskup S, Hörtnagel K, Klopstock T.

J Neurol. 2018 Feb;265(2):388-393. doi: 10.1007/s00415-017-8711-9. Epub 2017 Dec 19.

PMID:
29260356
37.

Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L.

Schubert V, Auffenberg E, Biskup S, Jurkat-Rott K, Freilinger T.

Cephalalgia. 2018 Jul;38(8):1503-1508. doi: 10.1177/0333102417742365. Epub 2017 Nov 16.

PMID:
29145747
38.

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.

Wilke C, Baets J, De Bleecker JL, Deconinck T, Biskup S, Hayer SN, Züchner S, Schüle R, De Jonghe P, Synofzik M.

Neurobiol Aging. 2018 Feb;62:244.e9-244.e13. doi: 10.1016/j.neurobiolaging.2017.10.010. Epub 2017 Oct 24.

PMID:
29137817
39.

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.

Bock AS, Günther S, Mohr J, Goldberg LV, Jahic A, Klisch C, Hübner CA, Biskup S, Beetz C.

Hum Mutat. 2018 Feb;39(2):193-196. doi: 10.1002/humu.23369. Epub 2017 Nov 27.

PMID:
29124833
40.

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45.

Hermann A, Kitzler HH, Pollack T, Biskup S, Krüger S, Funke C, Terrile C, Haack TB.

Tremor Other Hyperkinet Mov (N Y). 2017 Aug 8;7:465. doi: 10.7916/D8251WB0. eCollection 2017.

41.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

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.

Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236.

PMID:
29053855
42.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

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.

Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195.

43.

Combined PET/MRI: Global Warming-Summary Report of the 6th International Workshop on PET/MRI, March 27-29, 2017, Tübingen, Germany.

Bailey DL, Pichler BJ, Gückel B, Antoch G, Barthel H, Bhujwalla ZM, Biskup S, Biswal S, Bitzer M, Boellaard R, Braren RF, Brendle C, Brindle K, Chiti A, la Fougère C, Gillies R, Goh V, Goyen M, Hacker M, Heukamp L, Knudsen GM, Krackhardt AM, Law I, Morris JC, Nikolaou K, Nuyts J, Ordonez AA, Pantel K, Quick HH, Riklund K, Sabri O, Sattler B, Troost EGC, Zaiss M, Zender L, Beyer T.

Mol Imaging Biol. 2018 Feb;20(1):4-20. doi: 10.1007/s11307-017-1123-5.

44.

Number of predicted tumour-neoantigens as biomarker for cancer immunotherapies.

Armeanu-Ebinger S, Hadaschik D, Kyzirakos C, Mohr C, Battke F, Kohlbacher O, Nahnsen S, Biskup S.

Ann Oncol. 2017 Oct;28 Suppl 7:vii12. doi: 10.1093/annonc/mdx509. No abstract available.

45.

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

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.

J Neurochem. 2017 Dec;143(5):507-522. doi: 10.1111/jnc.14217. Epub 2017 Nov 7.

46.

Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.

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.

Am J Med Genet A. 2017 Sep;173(9):2566. doi: 10.1002/ajmg.a.38329. Epub 2017 Jun 23. No abstract available.

PMID:
28816420
47.

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.

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.

Genet Med. 2018 Feb;20(2):240-249. doi: 10.1038/gim.2017.102. Epub 2017 Jul 27.

48.

The role of genetic testing in epilepsy diagnosis and management.

Weber YG, Biskup S, Helbig KL, Von Spiczak S, Lerche H.

Expert Rev Mol Diagn. 2017 Aug;17(8):739-750. doi: 10.1080/14737159.2017.1335598. Epub 2017 Jun 26. Review.

PMID:
28548558
49.

Nerve enlargement in an unusual case of inflammatory neuropathy and new gene mutation-morphology is the key.

Grimm A, Winter N, Wolking S, Vittore D, Biskup S, Axer H.

Neurol Sci. 2017 Aug;38(8):1525-1527. doi: 10.1007/s10072-017-2960-3. Epub 2017 Apr 19. No abstract available.

PMID:
28424919
50.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

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.

Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054.

PMID:
28379373

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