Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 96

1.

In Memoriam: Professor Hermann Doose.

Neubauer BA, Schara U; Gesellschaft für Neuropädiatrie.

Neuropediatrics. 2018 Jun 19. doi: 10.1055/s-0038-1665549. [Epub ahead of print] No abstract available.

PMID:
29920626
2.

Erratum: Rett Syndrome.

Neubauer BA.

Neuropediatrics. 2018 Feb 26. doi: 10.1055/s-0038-1636996. [Epub ahead of print] No abstract available.

PMID:
29482254
3.

Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial.

Tacke M, Borggraefe I, Gerstl L, Heinen F, Vill K, Bonfert M, Bast T; HEAD Study group, Neubauer BA, Baumeister F, Baethmann M, Bentele K, Blank C, Blank HM, Bode H, Bosch F, Brandl U, Brockmann K, Dahlem P, Ernst JP, Feldmann E, Fiedler A, Gerigk M, Heß S, Hikel C, Hoffmann HG, Kieslich M, Klepper J, Kluger G, Koch H, Koch W, Korinthenberg R, Krois I, Kühne H, Kurlemann G, Mandl M, Mause U, Navratil P, Opp J, Penzien J, Prietsch V, Quattländer A, Rating D, Schara U, Shamdeen MG, Sprinz A, Wendker-Magrabi H, Stephani U, Muhle H, Straßburg HM, Töpke B, Trollmann R, Tuschen-Hofstätter E, Waltz S, Weber G, Wien FU, Wolff M, Polster T, Freitag H, Sönmez Ö, Reinhardt K, Traus M, Hoovey Z.

Seizure. 2018 Mar;56:115-120. doi: 10.1016/j.seizure.2018.01.015. Epub 2018 Feb 3.

PMID:
29475094
4.

Duplications at 19q13.33 in patients with neurodevelopmental disorders.

Pérez-Palma E, Saarentaus E, Ravoet M, De Ferrari GV, Nürnberg P, Isidor B, Neubauer BA, Lal D.

Neurol Genet. 2018 Jan 26;4(1):e210. doi: 10.1212/NXG.0000000000000210. eCollection 2018 Feb.

5.

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

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.

Eur J Hum Genet. 2018 Feb;26(2):258-264. doi: 10.1038/s41431-017-0034-x. Epub 2018 Jan 22.

PMID:
29358611
6.

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

Myers KA, McGlade A, Neubauer BA, Lal D, Berkovic SF, Scheffer IE, Hildebrand MS.

PLoS One. 2018 Jan 19;13(1):e0191546. doi: 10.1371/journal.pone.0191546. eCollection 2018.

7.

Erratum: Cognition and Behavior in Childhood Epilepsy.

Neubauer BA.

Neuropediatrics. 2018 Jan 4. doi: 10.1055/s-0037-1621744. [Epub ahead of print] No abstract available.

PMID:
29301151
8.

Rett Syndrome.

Neubauer BA.

Neuropediatrics. 2018 Apr;49(2):161-162. doi: 10.1055/s-0037-1609054. Epub 2017 Dec 13. No abstract available.

PMID:
29237191
9.

Chorea Minor Associated with Anti-Neurochondrin Autoantibodies.

Rommel FR, Miske R, Stöcker W, Arneth B, Neubauer BA, Hahn A.

Neuropediatrics. 2017 Dec;48(6):482-483. doi: 10.1055/s-0037-1606371. Epub 2017 Sep 29. No abstract available.

PMID:
28962041
10.

[Epilepsy-new diagnostic tools, old drugs? : Therapeutic consequences of epilepsy genetics].

Tacke M, Neubauer BA, Gerstl L, Roser T, Rémi J, Borggraefe I.

Nervenarzt. 2017 Dec;88(12):1385-1394. doi: 10.1007/s00115-017-0427-7. Review. German.

PMID:
28932874
11.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A.

Neurogenetics. 2017 Dec;18(4):185-194. doi: 10.1007/s10048-017-0520-x. Epub 2017 Aug 26.

12.

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
13.

Normal Head Shape Parameters in the First 2 Years of Life and Effect of Helmet Therapy.

Wilbrand JF, Kaps K, Tabak D, Bierther U, Wilbrand M, Neubauer BA, Pons-Kuehnemann J, Howaldt HP, Hahn A.

Neuropediatrics. 2017 Dec;48(6):432-441. doi: 10.1055/s-0037-1604482. Epub 2017 Aug 9. No abstract available.

PMID:
28793359
14.

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.

Pérez-Palma E, Helbig I, Klein KM, Anttila V, Horn H, Reinthaler EM, Gormley P, Ganna A, Byrnes A, Pernhorst K, Toliat MR, Saarentaus E, Howrigan DP, Hoffman P, Miquel JF, De Ferrari GV, Nürnberg P, Lerche H, Zimprich F, Neubauer BA, Becker AJ, Rosenow F, Perucca E, Zara F, Weber YG, Lal D.

J Med Genet. 2017 Sep;54(9):598-606. doi: 10.1136/jmedgenet-2016-104495. Epub 2017 Jul 29.

15.

DNM1 encephalopathy: A new disease of vesicle fission.

von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group.

Neurology. 2017 Jul 25;89(4):385-394. doi: 10.1212/WNL.0000000000004152. Epub 2017 Jun 30.

16.

Abstracts of the 43rd Annual Meeting of the Society for Neuropediatrics.

Neubauer BA.

Neuropediatrics. 2017 Apr;48(S 01):e1. doi: 10.1055/s-0037-1602699. Epub 2017 May 8. No abstract available.

PMID:
28482375
17.

Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.

Grzybowski M, Schänzer A, Pepler A, Heller C, Neubauer BA, Hahn A.

Neuropediatrics. 2017 Dec;48(6):451-455. doi: 10.1055/s-0037-1601868. Epub 2017 Apr 15.

PMID:
28411587
18.

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 Apr;173(4):959-965. doi: 10.1002/ajmg.a.38102. Erratum in: Am J Med Genet A. 2017 Sep;173(9):2566.

PMID:
28328125
19.

Invitation and Welcome to the 43rd Annual Meeting of the Society for Neuropediatrics.

Neubauer BA, Hahn A.

Neuropediatrics. 2017 Apr;48(2):61. doi: 10.1055/s-0037-1601319. Epub 2017 Mar 21. No abstract available.

PMID:
28324907
20.

Treatment of Super-Refractory Status Epilepticus in FIRES.

Neubauer BA.

Neuropediatrics. 2017 Feb;48(1):3-4. doi: 10.1055/s-0036-1597615. Epub 2016 Dec 27. No abstract available.

PMID:
28027569
21.

Effect of anticonvulsive treatment on neuropsychological performance in children with BECTS.

Tacke M, Gerstl L, Heinen F, Heukaeufer I, Bonfert M, Bast T, Cornell S, Neubauer BA, Borggraefe I; German HEAD Study group.

Eur J Paediatr Neurol. 2016 Nov;20(6):874-879. doi: 10.1016/j.ejpn.2016.07.015. Epub 2016 Jul 25.

PMID:
27553576
22.

Draft Genome Sequence of Lactobacillus delbrueckii Strain #22 Isolated from a Patient with Short Bowel Syndrome and Previous d-Lactic Acidosis and Encephalopathy.

Domann E, Fischer F, Glowatzki F, Fritzenwanker M, Hain T, Zechel-Gran S, Giffhorn-Katz S, Neubauer BA.

Genome Announc. 2016 Jul 28;4(4). pii: e00747-16. doi: 10.1128/genomeA.00747-16.

23.

Idiopathic focal epilepsies: the "lost tribe".

Pal DK, Ferrie C, Addis L, Akiyama T, Capovilla G, Caraballo R, de Saint-Martin A, Fejerman N, Guerrini R, Hamandi K, Helbig I, Ioannides AA, Kobayashi K, Lal D, Lesca G, Muhle H, Neubauer BA, Pisano T, Rudolf G, Seegmuller C, Shibata T, Smith A, Striano P, Strug LJ, Szepetowski P, Valeta T, Yoshinaga H, Koutroumanidis M.

Epileptic Disord. 2016 Sep 1;18(3):252-88. doi: 10.1684/epd.2016.0839. Review.

24.

Sphenoid Wing Dysplasia with Pulsatile Exophthalmos in Neurofibromatosis Type 1.

Rommel FR, Spors H, Grzybowski M, Hahn A, Neubauer BA.

Neuropediatrics. 2016 Aug;47(4):278-9. doi: 10.1055/s-0036-1584350. Epub 2016 Jun 9. No abstract available.

PMID:
27280756
25.

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

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.

Neurology. 2016 Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6.

26.

Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation.

Koenigstein K, Gramsch C, Kolodziej M, Neubauer BA, Weber A, Lechner S, Hahn A.

Neuropediatrics. 2016 Jun;47(3):197-201. doi: 10.1055/s-0036-1579785. Epub 2016 Apr 11.

PMID:
27064331
27.

Sulcal Artery Syndrome in a 10-Year-Old Boy.

Spors H, Merz C, Dießel J, Dutzmann CM, Neubauer BA, Hahn A.

Neuropediatrics. 2016 Jun;47(3):202-4. doi: 10.1055/s-0036-1579634. Epub 2016 Mar 18. No abstract available.

PMID:
26991050
28.

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

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.

PLoS One. 2016 Mar 18;11(3):e0150426. doi: 10.1371/journal.pone.0150426. eCollection 2016.

29.

Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians.

Strzelczyk A, Zschebek G, Bauer S, Baumgartner C, Grond M, Hermsen A, Kieslich M, Krämer G, Kurlemann G, May TW, Mayer T, Neubauer BA, Pfäfflin M, Plecko B, Ryvlin P, Schubert-Bast S, Stefan H, Trinka E, Knake S, Seifart C, Rosenow F.

Epilepsia. 2016 Apr;57(4):612-20. doi: 10.1111/epi.13337. Epub 2016 Feb 22.

30.

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.

Lal D, Neubauer BA, Toliat MR, Altmüller J, Thiele H, Nürnberg P, Kamrath C, Schänzer A, Sander T, Hahn A, Nothnagel M.

PLoS One. 2016 Jan 20;11(1):e0146040. doi: 10.1371/journal.pone.0146040. eCollection 2016.

31.

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

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 UBS.

J Neurol. 2016 Feb;263(2):334-343. doi: 10.1007/s00415-015-7984-0. Epub 2015 Dec 8.

PMID:
26645390
32.

From Genetics to Genomics: A Short Introduction for Pediatric Neurologists.

Neubauer BA, Lemke JR.

Neuropediatrics. 2016 Jan;47(1):5-11. doi: 10.1055/s-0035-1566448. Epub 2015 Nov 16. Review.

PMID:
26569157
33.

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

Larsen J, Johannesen KM, Ek J, Tang S, Marini C, Blichfeldt S, Kibaek M, von Spiczak S, Weckhuysen S, Frangu M, Neubauer BA, Uldall P, Striano P, Zara F; MAE working group of EuroEPINOMICS RES Consortium, Kleiss R, Simpson M, Muhle H, Nikanorova M, Jepsen B, Tommerup N, Stephani U, Guerrini R, Duno M, Hjalgrim H, Pal D, Helbig I, Møller RS.

Epilepsia. 2015 Dec;56(12):e203-8. doi: 10.1111/epi.13222. Epub 2015 Nov 5.

34.

Costs of epilepsy and cost-driving factors in children, adolescents, and their caregivers in Germany.

Riechmann J, Strzelczyk A, Reese JP, Boor R, Stephani U, Langner C, Neubauer BA, Oberman B, Philippi H, Rochel M, Seeger J, Seipelt P, Oertel WH, Dodel R, Rosenow F, Hamer HM; EpiPaed Study Group.

Epilepsia. 2015 Sep;56(9):1388-97. doi: 10.1111/epi.13089. Epub 2015 Aug 3.

35.

Investigation of GRIN2A in common epilepsy phenotypes.

Lal D, Steinbrücker S, Schubert J, Sander T, Becker F, Weber Y, Lerche H, Thiele H, Krause R, Lehesjoki AE, Nürnberg P, Palotie A, Neubauer BA, Muhle H, Stephani U, Helbig I, Becker AJ, Schoch S, Hansen J, Dorn T, Hohl C, Lüscher N; Epicure consortium; EuroEPINOMICS-CoGIE consortium, von Spiczak S, Lemke JR.

Epilepsy Res. 2015 Sep;115:95-9. doi: 10.1016/j.eplepsyres.2015.05.010. Epub 2015 Jun 2.

PMID:
26220384
36.

Percutaneous minimally invasive fetoscopic surgery for spina bifida aperta. Part III: neurosurgical intervention in the first postnatal year.

Graf K, Kohl T, Neubauer BA, Dey F, Faas D, Wanis FA, Reinges MH, Uhl E, Kolodziej MA.

Ultrasound Obstet Gynecol. 2016 Feb;47(2):158-61. doi: 10.1002/uog.14937.

37.

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.

Lal D, Ruppert AK, Trucks H, Schulz H, de Kovel CG, Kasteleijn-Nolst Trenité D, Sonsma AC, Koeleman BP, Lindhout D, Weber YG, Lerche H, Kapser C, Schankin CJ, Kunz WS, Surges R, Elger CE, Gaus V, Schmitz B, Helbig I, Muhle H, Stephani U, Klein KM, Rosenow F, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Lieb W, Franke A, Strauch K, Gieger C, Schurmann C, Schminke U, Nürnberg P; EPICURE Consortium, Sander T.

PLoS Genet. 2015 May 7;11(5):e1005226. doi: 10.1371/journal.pgen.1005226. eCollection 2015 May.

38.

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

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.

Ann Neurol. 2015 Jun;77(6):972-86. doi: 10.1002/ana.24395. Epub 2015 Mar 28.

PMID:
25726841
39.

Syndromes at risk of status epilepticus in children: genetic and pathophysiological issues.

Neubauer BA, Hahn A.

Epileptic Disord. 2014 Oct;16 Spec No 1:S89-95. doi: 10.1684/epd.2014.0688. Review.

PMID:
25323303
40.

Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.

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.

Epilepsia. 2014 Aug;55(8):e89-93. doi: 10.1111/epi.12712. Epub 2014 Jul 3.

41.

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

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.

Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16.

PMID:
24939913
42.

DEPDC5 mutations in genetic focal epilepsies of childhood.

Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Bäumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, Altmüller J, Thiele H, Lemke JR, Lerche H, Nürnberg P, Sander T, Weber Y, Zimprich F, Neubauer BA.

Ann Neurol. 2014 May;75(5):788-92. doi: 10.1002/ana.24127. Epub 2014 Apr 14.

PMID:
24591017
43.

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.

Dejanovic B, Lal D, Catarino CB, Arjune S, Belaidi AA, Trucks H, Vollmar C, Surges R, Kunz WS, Motameny S, Altmüller J, Köhler A, Neubauer BA, Epicure Consortium, Nürnberg P, Noachtar S, Schwarz G, Sander T.

Neurobiol Dis. 2014 Jul;67:88-96. doi: 10.1016/j.nbd.2014.02.001. Epub 2014 Feb 19.

PMID:
24561070
44.

RBFOX1 and RBFOX3 mutations in rolandic epilepsy.

Lal D, Reinthaler EM, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Lerche H, Hahn A, Møller RS, Muhle H, Sander T, Zimprich F, Neubauer BA.

PLoS One. 2013 Sep 6;8(9):e73323. doi: 10.1371/journal.pone.0073323. eCollection 2013.

45.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

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.

Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11.

PMID:
23933819
46.

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nürnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altmüller J, Frommolt P, Thiele H, Höhne W, Yigit G, Wollnik B, Neubauer BA, Nürnberg P, Noegel AA.

Hum Mol Genet. 2013 Dec 20;22(25):5199-214. doi: 10.1093/hmg/ddt374. Epub 2013 Aug 4.

PMID:
23918663
47.

Levetiracetam vs. sulthiame in benign epilepsy with centrotemporal spikes in childhood: a double-blinded, randomized, controlled trial (German HEAD Study).

Borggraefe I, Bonfert M, Bast T, Neubauer BA, Schotten KJ, Maßmann K, Noachtar S, Tuxhorn I, May TW, Heinen F; German HEAD Study Group.

Eur J Paediatr Neurol. 2013 Sep;17(5):507-14. doi: 10.1016/j.ejpn.2013.03.014. Epub 2013 Apr 30.

PMID:
23642492
48.

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.

Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BP, de Kovel CG, Visscher F, Weber YG, Lerche H, Becker F, Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, Franke A, Illig T, Ried JS, Leu C, Nürnberg P, Sander T; EMINet Consortium; EPICURE Consortium.

Epilepsia. 2013 Feb;54(2):265-71. doi: 10.1111/epi.12084. Epub 2013 Jan 25.

49.

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.

Lal D, Becker K, Motameny S, Altmüller J, Thiele H, Nürnberg P, Ahting U, Rolinski B, Neubauer BA, Hahn A.

Neurogenetics. 2013 Feb;14(1):85-7. doi: 10.1007/s10048-013-0355-z. Epub 2013 Jan 20. No abstract available.

PMID:
23334465
50.

Epileptic diaphragm myoclonus.

Hahn A, Neubauer BA.

Epileptic Disord. 2012 Dec;14(4):418-21. doi: 10.1684/epd.2012.0540.

Supplemental Content

Loading ...
Support Center