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Items: 15

1.

Clinical spectrum of STX1B-related epileptic disorders.

Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007089. doi: 10.1212/WNL.0000000000007089. [Epub ahead of print]

PMID:
30737342
2.

Rare gene deletions in genetic generalized and Rolandic epilepsies.

Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, Altmüller J, Toliat MR, Kraaij R, van Rooij J, Uitterlinden AG, Ikram MA; EuroEPINOMICS CoGIE Consortium, Zara F, Lehesjoki AE, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Lerche H, Nürnberg P.

PLoS One. 2018 Aug 27;13(8):e0202022. doi: 10.1371/journal.pone.0202022. eCollection 2018.

3.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium.

Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.

4.

Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.

McCormack M, Gui H, Ingason A, Speed D, Wright GEB, Zhang EJ, Secolin R, Yasuda C, Kwok M, Wolking S, Becker F, Rau S, Avbersek A, Heggeli K, Leu C, Depondt C, Sills GJ, Marson AG, Auce P, Brodie MJ, Francis B, Johnson MR, Koeleman BPC, Striano P, Coppola A, Zara F, Kunz WS, Sander JW, Lerche H, Klein KM, Weckhuysen S, Krenn M, Gudmundsson LJ, Stefánsson K, Krause R, Shear N, Ross CJD, Delanty N; EPIGEN Consortium;, Pirmohamed M, Carleton BC; Canadian Pharmacogenomics Network for Drug Safety;, Cendes F, Lopes-Cendes I, Liao WP, O'Brien TJ, Sisodiya SM; EpiPGX Consortium;, Cherny S, Kwan P, Baum L; International League Against Epilepsy Consortium on Complex Epilepsies;, Cavalleri GL.

Neurology. 2018 Jan 23;90(4):e332-e341. doi: 10.1212/WNL.0000000000004853. Epub 2017 Dec 29. Erratum in: Neurology. 2018 Oct 16;91(16):765.

5.

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.

6.

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.

Androsova G, Krause R, Borghei M, Wassenaar M, Auce P, Avbersek A, Becker F, Berghuis B, Campbell E, Coppola A, Francis B, Wolking S, Cavalleri GL, Craig J, Delanty N, Koeleman BPC, Kunz WS, Lerche H, Marson AG, Sander JW, Sills GJ, Striano P, Zara F, Sisodiya SM, Depondt C; EpiPGX Consortium.

Epilepsia. 2017 Oct;58(10):1734-1741. doi: 10.1111/epi.13871. Epub 2017 Aug 31.

7.

Macrodactylia lipomatosa with fibrolipomatous hamartomas: Macroscopic and ultrasound clues.

Weiss D, Zrenner B, Wolking S, Freilinger T, Grimm A.

Clin Neurophysiol. 2017 Jul;128(7):1315-1316. doi: 10.1016/j.clinph.2017.04.027. Epub 2017 May 12. No abstract available.

PMID:
28558315
8.

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
9.

Activation of AMP-activated kinase modulates sensitivity of glioma cells against epidermal growth factor receptor inhibition.

Hartel I, Ronellenfitsch M, Wanka C, Wolking S, Steinbach JP, Rieger J.

Int J Oncol. 2016 Jul;49(1):173-80. doi: 10.3892/ijo.2016.3498. Epub 2016 Apr 25.

PMID:
27121290
10.

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.

Fan C, Wolking S, Lehmann-Horn F, Hedrich UB, Freilinger T, Lerche H, Borck G, Kubisch C, Jurkat-Rott K.

Cephalalgia. 2016 Nov;36(13):1238-1247. doi: 10.1177/0333102415608360. Epub 2016 Jul 11.

11.

The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies.

Grimm A, Rasenack M, Athanasopoulou IM, Dammeier NM, Lipski C, Wolking S, Vittore D, Décard BF, Axer H.

J Neurol. 2016 Feb;263(2):221-230. doi: 10.1007/s00415-015-7953-7. Epub 2015 Nov 11.

PMID:
26559821
12.

Impact of Genetic Polymorphisms of ABCB1 (MDR1, P-Glycoprotein) on Drug Disposition and Potential Clinical Implications: Update of the Literature.

Wolking S, Schaeffeler E, Lerche H, Schwab M, Nies AT.

Clin Pharmacokinet. 2015 Jul;54(7):709-35. doi: 10.1007/s40262-015-0267-1. Review.

PMID:
25860377
13.

Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature.

Wolking S, Becker F, Bast T, Wiemer-Kruel A, Mayer T, Lerche H, Weber YG.

J Neurol. 2014 Oct;261(10):1881-6. doi: 10.1007/s00415-014-7433-5. Epub 2014 Jul 15. Review.

PMID:
25022942
14.

Episodic itch in a case of spinal glioma.

Wolking S, Lerche H, Dihné M.

BMC Neurol. 2013 Sep 23;13:124. doi: 10.1186/1471-2377-13-124.

15.

Antagonism of the mammalian target of rapamycin selectively mediates metabolic effects of epidermal growth factor receptor inhibition and protects human malignant glioma cells from hypoxia-induced cell death.

Ronellenfitsch MW, Brucker DP, Burger MC, Wolking S, Tritschler F, Rieger J, Wick W, Weller M, Steinbach JP.

Brain. 2009 Jun;132(Pt 6):1509-22. doi: 10.1093/brain/awp093. Epub 2009 May 4.

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