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Page 1
[Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases].
Siegler Z, Neuwirth M, Hegyi M, Paraicz E, Pálmafy B, Tegzes A, Barsi P, Karcagi V, Claes L, De Jonghe P, Herczegfalvi A, Fogarasi A. Siegler Z, et al. Among authors: palmafy b. Ideggyogy Sz. 2008 Nov 30;61(11-12):402-8. Ideggyogy Sz. 2008. PMID: 19070316 Hungarian.
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium; Dobyns WB, Baas F, Poll-The BT. Namavar Y, et al. Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15. Brain. 2011. PMID: 20952379 Free PMC article.
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, Pálmafy B, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, DiMauro S, Prokisch H, Lochmüller H, Horvath R. Gempel K, et al. Among authors: palmafy b. Brain. 2007 Aug;130(Pt 8):2037-44. doi: 10.1093/brain/awm054. Epub 2007 Apr 5. Brain. 2007. PMID: 17412732 Free PMC article.
Left-handedness should not be overrated as a risk factor for postoperative speech impairment in children after posterior fossa tumour surgery: a prospective European multicentre study.
Grønbæk JK, Laustsen AF, Toescu S, Pizer B, Mallucci C, Aquilina K, Molinari E, Hjort MA, Gumbeleviciene L, Hauser P, Pálmafy B, van Baarsen K, Hoving E, Zipfel J, Ehrstedt C, Grillner P, Callesen MT, Frič R, Wibroe M, Nysom K, Schmiegelow K, Sehested A, Mathiasen R, Juhler M; CMS study group. Grønbæk JK, et al. Among authors: palmafy b. Childs Nerv Syst. 2022 Aug;38(8):1479-1485. doi: 10.1007/s00381-022-05567-8. Epub 2022 Jun 27. Childs Nerv Syst. 2022. PMID: 35759029
Postoperative speech impairment and surgical approach to posterior fossa tumours in children: a prospective European multicentre cohort study.
Grønbæk JK, Wibroe M, Toescu S, Frič R, Thomsen BL, Møller LN, Grillner P, Gustavsson B, Mallucci C, Aquilina K, Fellows GA, Molinari E, Hjort MA, Westerholm-Ormio M, Kiudeliene R, Mudra K, Hauser P, van Baarsen K, Hoving E, Zipfel J, Nysom K, Schmiegelow K, Sehested A, Juhler M, Mathiasen R; CMS study group. Grønbæk JK, et al. Lancet Child Adolesc Health. 2021 Nov;5(11):814-824. doi: 10.1016/S2352-4642(21)00274-1. Epub 2021 Oct 6. Lancet Child Adolesc Health. 2021. PMID: 34624241