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Page 1
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
NPJ Genom Med. 2019 Dec 2;4:31. doi: 10.1038/s41525-019-0106-7. eCollection 2019.
NPJ Genom Med. 2019.
PMID: 31814998
Free PMC article.
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.
May P, et al.
Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.
Lancet Neurol. 2018.
PMID: 30033060
Free article.
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Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.
Marini C, Hardies K, Pisano T, May P, Weckhuysen S, Cellini E, Suls A, Mei D, Balling R, Jonghe PD, Helbig I, Garozzo D; EuroEPINOMICS consortium AR working group; Guerrini R.
Marini C, et al. Among authors: jonghe pd.
Am J Med Genet A. 2017 Apr;173(4):1119-1123. doi: 10.1002/ajmg.a.38112.
Am J Med Genet A. 2017.
PMID: 28328131
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Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation.
Al-Yahyaee SA, Al-Kindi M, Jonghe PD, Al-Asmi A, Al-Futaisi A, Vriendt ED, Deconinck T, Chand P.
Al-Yahyaee SA, et al. Among authors: jonghe pd.
J Child Neurol. 2013 Nov;28(11):1467-1473. doi: 10.1177/0883073812463610. Epub 2012 Nov 8.
J Child Neurol. 2013.
PMID: 23143715
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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröder JM, Vance JM.
Züchner S, et al. Among authors: jonghe pd.
Nat Genet. 2004 May;36(5):449-51. doi: 10.1038/ng1341. Epub 2004 Apr 4.
Nat Genet. 2004.
PMID: 15064763
No abstract available.
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Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.
Baets J, Dierick I, Groote CC, Ende Jv, Martin JJ, Geens K, Robberecht W, Nelis E, Timmerman V, Jonghe PD.
Baets J, et al. Among authors: jonghe pd.
Neuromuscul Disord. 2009 Feb;19(2):172-5. doi: 10.1016/j.nmd.2008.11.006. Epub 2009 Jan 22.
Neuromuscul Disord. 2009.
PMID: 19167223
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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
Zimoń M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landouré G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ, Timmerman V, Jordanova A, Jonghe PD.
Zimoń M, et al. Among authors: jonghe pd.
Brain. 2010 Jun;133(Pt 6):1798-809. doi: 10.1093/brain/awq109. Epub 2010 May 11.
Brain. 2010.
PMID: 20460441
Free PMC article.
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