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Gruber-Sedlmayr Ursula |

** = Publikationen gelistet in SCI/SSCI/Pubmed

2021

Originalarbeit (Zeitschrift)

** Voisin, N; Schnur, RE; Douzgou, S; Hiatt, SM; Rustad, CF; Brown, NJ; Earl, DL; Keren, B; Levchenko, O; Geuer, S; Verheyen, S; Johnson, D; Zarate, YA; Hančárová, M; Amor, DJ; Bebin, EM; Blatterer, J; Brusco, A; Cappuccio, G; Charrow, J; Chatron, N; Cooper, GM; Courtin, T; Dadali, E; Delafontaine, J; Del, Giudice, E; Doco, M; Douglas, G; Eisenkölbl, A; Funari, T; Giannuzzi, G; Gruber-Sedlmayr, U; Guex, N; Heron, D; Holla, ØL; Hurst, ACE; Juusola, J; Kronn, D; Lavrov, A; Lee, C; Lorrain, S; Merckoll, E; Mikhaleva, A; Norman, J; Pradervand, S; Prchalová, D; Rhodes, L; Sanders, VR; Sedláček, Z; Seebacher, HA; Sellars, EA; Sirchia, F; Takenouchi, T; Tanaka, AJ; Taska-Tench, H; Tønne, E; Tveten, K; Vitiello, G; Vlčková, M; Uehara, T; Nava, C; Yalcin, B; Kosaki, K; Donnai, D; Mundlos, S; Brunetti-Pierri, N; Chung, WK; Reymond, A Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
AM J HUM GENET. 2021; 108(5): 857-873. Doi: 10.1016/j.ajhg.2021.04.001 [OPEN ACCESS]
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2020

Originalarbeit (Zeitschrift)

** Pechmann, A; Baumann, M; Bernert, G; Flotats-Bastardas, M; Gruber-Sedlmayr, U; von der Hagen, M; Hasselmann, O; Hobbiebrunken, E; Horber, V; Johannsen, J; Kellersmann, A; Köhler, C; von Moers, A; Müller-Felber, W; Plecko, B; Reihle, C; Schlachter, K; Schreiber, G; Schwartz, O; Smitka, M; Steiner, E; Stoltenburg, C; Stüve, B; Theophil, M; Weiß, C; Wiegand, G; Wilichowski, E; Winter, B; Wittmann, W; Schara, U; Kirschner, J Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.
J Neuromuscul Dis. 2020; 7(1): 41-46. Doi: 10.3233/JND-190441
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2018

Originalarbeit (Zeitschrift)

** Bobbili, DR; Lal, D; May, P; Reinthaler, EM; Jabbari, K; Thiele, H; Nothnagel, M; Jurkowski, W; Feucht, M; Nürnberg, P; Lerche, H; Zimprich, F; Krause, R; Neubauer, BA; Reinthaler, EM; Zimprich, F; Feucht, M; Steinböck, H; Neophytou, B; Geldner, J; Gruber-Sedlmayr, U; Haberlandt, E; Ronen, GM; Altmüller, J; Lal, D; Nürnberg, P; Sander, T; Thiele, H; Krause, R; May, P; Balling, R; Lerche, H; Neubauer, BA; EUROEPINOMICS COGIE Consortium Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Eur J Hum Genet. 2018; 26(2):258-264 Doi: 10.1038/s41431-017-0034-x [OPEN ACCESS]
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2017

Originalarbeit (Zeitschrift)

** Haberlandt, E; Ensslen, M; Gruber-Sedlmayr, U; Plecko, B; Brunner-Krainz, M; Schimmel, M; Schubert-Bast, S; Neirich, U; Philippi, H; Kurleman, G; Tardieu, M; Wohlrab, G; Borggraefe, I; Rostásy, K Epileptic phenotypes, electroclinical features and clinical characteristics in 17 children with anti-NMDAR encephalitis.
Eur J Paediatr Neurol. 2017; 21(3):457-464 Doi: 10.1016/j.ejpn.2016.11.016
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** Hennes, EM; Baumann, M; Schanda, K; Anlar, B; Bajer-Kornek, B; Blaschek, A; Brantner-Inthaler, S; Diepold, K; Eisenkölbl, A; Gotwald, T; Kuchukhidze, G; Gruber-Sedlmayr, U; Häusler, M; Höftberger, R; Karenfort, M; Klein, A; Koch, J; Kraus, V; Lechner, C; Leiz, S; Leypoldt, F; Mader, S; Marquard, K; Poggenburg, I; Pohl, D; Pritsch, M; Raucherzauner, M; Schimmel, M; Thiels, C; Tibussek, D; Vieker, S; Zeches, C; Berger, T; Reindl, M; Rostásy, K; BIOMARKER Study Group Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome.
Neurology. 2017; 89(9):900-908 Doi: 10.1212/WNL.0000000000004312 [OPEN ACCESS]
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** Skrabl-Baumgartner, A; Plecko, B; Schmidt, WM; König, N; Hershfield, M; Gruber-Sedlmayr, U; Lee-Kirsch, MA Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.
Pediatr Rheumatol Online J. 2017; 15(1): 67-67. Doi: 10.1186/s12969-017-0193-x (- Case Report) [OPEN ACCESS]
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2016

Originalarbeit (Zeitschrift)

** Lal, D; Reinthaler, EM; Dejanovic, B; May, P; Thiele, H; Lehesjoki, AE; Schwarz, G; Riesch, E; Ikram, MA; van Duijn, CM; Uitterlinden, AG; Hofman, A; Steinböck, H; Gruber-Sedlmayr, U; Neophytou, B; Zara, F; Hahn, A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium; Gormley, P; Becker, F; Weber, YG; Cilio, MR; Kunz, WS; Krause, R; Zimprich, F; Lemke, JR; Nürnberg, P; Sander, T; Lerche, H; Neubauer, BA Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
PLoS One. 2016; 11(3):e0150426-e0150426 Doi: 10.1371/journal.pone.0150426 [OPEN ACCESS]
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** Lechner, C; Baumann, M; Hennes, EM; Schanda, K; Marquard, K; Karenfort, M; Leiz, S; Pohl, D; Venkateswaran, S; Pritsch, M; Koch, J; Schimmel, M; Häusler, M; Klein, A; Blaschek, A; Thiels, C; Lücke, T; Gruber-Sedlmayr, U; Kornek, B; Hahn, A; Leypoldt, F; Sandrieser, T; Gallwitz, H; Stoffels, J; Korenke, C; Reindl, M; Rostásy, K Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease.
J Neurol Neurosurg Psychiatry. 2016; 87(8):897-905 Doi: 10.1136/jnnp-2015-311743
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2015

Originalarbeit (Zeitschrift)

** Baumann, M; Sahin, K; Lechner, C; Hennes, EM; Schanda, K; Mader, S; Karenfort, M; Selch, C; Häusler, M; Eisenkölbl, A; Salandin, M; Gruber-Sedlmayr, U; Blaschek, A; Kraus, V; Leiz, S; Finsterwalder, J; Gotwald, T; Kuchukhidze, G; Berger, T; Reindl, M; Rostásy, K Clinical and neuroradiological differences of paediatric acute disseminating encephalomyelitis with and without antibodies to the myelin oligodendrocyte glycoprotein.
J Neurol Neurosurg Psychiatry. 2015; 86(3):265-272 Doi: 10.1136/jnnp-2014-308346 [OPEN ACCESS]
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** Reinthaler, EM; Dejanovic, B; Lal, D; Semtner, M; Merkler, Y; Reinhold, A; Pittrich, DA; Hotzy, C; Feucht, M; Steinböck, H; Gruber-Sedlmayr, U; Ronen, GM; Neophytou, B; Geldner, J; Haberlandt, E; Muhle, H; Ikram, MA; van Duijn, CM; Uitterlinden, AG; Hofman, A; Altmüller, J; Kawalia, A; Toliat, MR; EuroEPINOMICS Consortium; Nürnberg, P; Lerche, H; Nothnagel, M; Thiele, H; Sander, T; Meier, JC; Schwarz, G; Neubauer, BA; Zimprich, F Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Ann Neurol. 2015; 77(6):972-986 Doi: 10.1002/ana.24395
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** Strickland, AV; Schabhüttl, M; Offenbacher, H; Synofzik, M; Hauser, NS; Brunner-Krainz, M; Gruber-Sedlmayr, U; Moore, SA; Windhager, R; Bender, B; Harms, M; Klebe, S; Young, P; Kennerson, M; Garcia, AS; Gonzalez, MA; Züchner, S; Schule, R; Shy, ME; Auer-Grumbach, M Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
J Neurol. 2015; 262(9):2124-2134 Doi: 10.1007/s00415-015-7727-2 [OPEN ACCESS]
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2014

Originalarbeit (Zeitschrift)

** Klobassa, DS; Zoehrer, B; Paulke-Korinek, M; Gruber-Sedlmayr, U; Pfurtscheller, K; Strenger, V; Sonnleitner, A; Kerbl, R; Ausserer, B; Arocker, W; Kaulfersch, W; Hausberger, B; Covi, B; Eitelberger, F; Vécsei, A; Simma, B; Birnbacher, R; Kurz, H; Zwiauer, K; Weghuber, D; Heuberger, S; Quehenberger, F; Kollaritsch, H; Zenz, W The burden of pneumococcal meningitis in Austrian children between 2001 and 2008.
Eur J Pediatr. 2014; 173(7):871-878 Doi: 10.1007/s00431-013-2260-8
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** Reinthaler, EM; Lal, D; Jurkowski, W; Feucht, M; Steinböck, H; Gruber-Sedlmayr, U; Ronen, GM; Geldner, J; Haberlandt, E; Neophytou, B; Hahn, A; Altmüller, J; Thiele, H; Toliat, MR; EuroEPINOMICS Consortium; Lerche, H; Nürnberg, P; Sander, T; Neubauer, BA; Zimprich, F Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
EPILEPSIA. 2014; 55(8): e89-e93. Doi: 10.1111/epi.12712 [OPEN ACCESS]
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** Reinthaler, EM; Lal, D; Lebon, S; Hildebrand, MS; Dahl, HH; Regan, BM; Feucht, M; Steinböck, H; Neophytou, B; Ronen, GM; Roche, L; Gruber-Sedlmayr, U; Geldner, J; Haberlandt, E; Hoffmann, P; Herms, S; Gieger, C; Waldenberger, M; Franke, A; Wittig, M; Schoch, S; Becker, AJ; Hahn, A; Männik, K; Toliat, MR; Winterer, G; 16p11.2 European Consortium; Lerche, H; Nürnberg, P; Mefford, H; Scheffer, IE; Berkovic, SF; Beckmann, JS; EPICURE Consortium; EuroEPINOMICS Consortium; Sander, T; Jacquemont, S; Reymond, A; Zimprich, F; Neubauer, BA 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Hum Mol Genet. 2014; 23(22):6069-6080 Doi: 10.1093/hmg/ddu306 [OPEN ACCESS]
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2013

Originalarbeit (Zeitschrift)

** Kasperaviciute, D; Catarino, CB; Matarin, M; Leu, C; Novy, J; Tostevin, A; Leal, B; Hessel, EV; Hallmann, K; Hildebrand, MS; Dahl, HH; Ryten, M; Trabzuni, D; Ramasamy, A; Alhusaini, S; Doherty, CP; Dorn, T; Hansen, J; Krämer, G; Steinhoff, BJ; Zumsteg, D; Duncan, S; Kälviäinen, RK; Eriksson, KJ; Kantanen, AM; Pandolfo, M; Gruber-Sedlmayr, U; Schlachter, K; Reinthaler, EM; Stogmann, E; Zimprich, F; Théâtre, E; Smith, C; O'Brien, TJ; Meng Tan, K; Petrovski, S; Robbiano, A; Paravidino, R; Zara, F; Striano, P; Sperling, MR; Buono, RJ; Hakonarson, H; Chaves, J; Costa, PP; Silva, BM; da Silva, AM; de Graan, PN; Koeleman, BP; Becker, A; Schoch, S; von Lehe, M; Reif, PS; Rosenow, F; Becker, F; Weber, Y; Lerche, H; Rössler, K; Buchfelder, M; Hamer, HM; Kobow, K; Coras, R; Blumcke, I; Scheffer, IE; Berkovic, SF; Weale, ME; UK Brain Expression Consortium; Delanty, N; Depondt, C; Cavalleri, GL; Kunz, WS; Sisodiya, SM Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Brain. 2013; 136(Pt 10):3140-3150 Doi: 10.1093/brain/awt233 [OPEN ACCESS]
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** 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; Guerrero López, R; 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 Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Nat Genet. 2013; 45(9):1067-1072 Doi: 10.1038/ng.2728
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** Muhn, F; Klopocki, E; Graul-Neumann, L; Uhrig, S; Colley, A; Castori, M; Lankes, E; Henn, W; Gruber-Sedlmayr, U; Seifert, W; Horn, D Novel mutations of the PRKAR1A gene in patients with acrodysostosis.
Clin Genet. 2013; 84(6):531-538 Doi: 10.1111/cge.12106
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** Pichler, A; Enzinger, C; Fuchs, S; Plecko-Startinig, B; Gruber-Sedlmayr, U; Linortner, P; Langkammer, C; Khalil, M; Ebner, F; Ropele, S; Fazekas, F Differences and similarities in the evolution of morphologic brain abnormalities between paediatric and adult-onset multiple sclerosis.
Mult Scler. 2013; 19(2):167-172 Doi: 10.1177/1352458512448107
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2012

Originalarbeit (Zeitschrift)

** Huppke, P; Brendel, C; Kalscheuer, V; Korenke, GC; Marquardt, I; Freisinger, P; Christodoulou, J; Hillebrand, M; Pitelet, G; Wilson, C; Gruber-Sedlmayr, U; Ullmann, R; Haas, S; Elpeleg, O; Nürnberg, G; Nürnberg, P; Dad, S; Mller, LB; Kaler, SG; Gärtner, J Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
AM J HUM GENET. 2012; 90(1): 61-68. Doi: 10.1016/j.ajhg.2011.11.030 [OPEN ACCESS]
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** Nagel, B; Gruber-Sedlmayr, U; Uhrig, S; Stöllberger, C; Klopocki, E; Finsterer, J Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants.
BMC Med Genet. 2012; 13(8):60-60 Doi: 10.1186/1471-2350-13-60 (- Case Report) [OPEN ACCESS]
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2011

Originalarbeit (Zeitschrift)

** Demuth, I; Dutrannoy, V; Marques, W; Neitzel, H; Schindler, D; Dimova, PS; Chrzanowska, KH; Bojinova, V; Gregorek, H; Graul-Neumann, LM; von Moers, A; Schulze, I; Nicke, M; Bora, E; Cankaya, T; Oláh, É; Kiss, C; Bessenyei, B; Szakszon, K; Gruber-Sedlmayr, U; Kroisel, PM; Sodia, S; Goecke, TO; Dörk, T; Digweed, M; Sperling, K; de Sá, J; Lourenco, CM; Varon, R New mutations in the ATM gene and clinical data of 25 AT patients.
Neurogenetics. 2011; 12(4):273-282 Doi: 10.1007/s10048-011-0299-0
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2010

Originalarbeit (Zeitschrift)

** Jamali, S; Salzmann, A; Perroud, N; Ponsole-Lenfant, M; Cillario, J; Roll, P; Roeckel-Trevisiol, N; Crespel, A; Balzar, J; Schlachter, K; Gruber-Sedlmayr, U; Pataraia, E; Baumgartner, C; Zimprich, A; Zimprich, F; Malafosse, A; Szepetowski, P Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures.
PLoS One. 2010; 5(9): Doi: 10.1371/journal.pone.0012740 [OPEN ACCESS]
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2009

Originalarbeit (Zeitschrift)

** Schlachter, K; Gruber-Sedlmayr, U; Stogmann, E; Lausecker, M; Hotzy, C; Balzar, J; Schuh, E; Baumgartner, C; Mueller, JC; Illig, T; Wichmann, HE; Lichtner, P; Meitinger, T; Strom, TM; Zimprich, A; Zimprich, F A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.
NEUROLOGY. 2009; 72(11): 974-978. Doi: 10.1212/01.wnl.0000344401.02915.00
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Kurzbericht/Letter

** Schwarzbraun, T; Obenauf, A; Langmann, A; Gruber-Sedlmayr, U; Wagner, K; Speicher, M; Kroisel, P Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.
J Med Genet. 2009; 46(5): 341-344. Doi: 10.1136/jmg.2008.064972 (- Case Report) [OPEN ACCESS]
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Abstract (Zeitschrift)

** Zimprich, F; Schlachter, K; Gruber-Sedlmayr, U; Stogmann, E; Lausecker, M; Hotzy, C; Balzar, J; Schuh, E; Baumgartner, C; Mueller, JC; Illig, T; Wichmann, HE; Lichtner, P; Meitinger, T; Strom, TM; Zimprich, A A SPLICE SITE VARIANT IN THE SODIUM CHANNEL GENE SCN1A CONFERS RISK OF FEBRILE SEIZURES
EPILEPSIA. 2009; 50: 42-42.-6th Joint Meeting of the German, Austrian, and Swiss Sections of the International-League-Against-Epilepsy; MAY 20-24, 2009; Rostock, GERMANY. [Oral Communication]
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2008

Übersichtsarbeit

** Fritsch, P; Gruber-Sedlmayr, U; Pansi, H; Zohrer, B; Mutz, I; Spork, D; Zenz, W Tick-borne encephalitis in Styrian children from 1981 to 2005: a retrospective study and a review of the literature.
ACTA PAEDIAT. 2008; 97(5): 535-538. Doi: 10.1111/j.1651-2227.2008.00763.x
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2007

Kurzbericht/Letter

** Marschitz, I; Rödl, S; Gruber-Sedlmayr, U; Church, A; Giovannoni, G; Zobel, G; Mache, CJ; Raith, J; Plecko, B Severe chorea with positive anti-basal ganglia antibodies after herpesencephalitis.
J Neurol Neurosurg Psychiatry. 2007; 78(1):105-107 Doi: 10.1136/jnnp.2006.090555 (- Case Report) [OPEN ACCESS]
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2002

Abstract (Zeitschrift)

** Krametter, DF; Stuenzner, D; Gruber-Sedlmayr, U; Weishaupt, A; Hartung, HP; Archelos, JJ Epitope-specific humoral immune response to myelin protein zero (PO) in patients with Guillain-Barre syndrome and chronic inflammatory demyelinating polyradiculoneuropathy
NEUROLOGY 2002 58: A230-A231.
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