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Autosomal recessive inheritance of GLUT1 deficiency syndrome.
Klepper J, Scheffer H, Elsaid MF, Kamsteeg EJ, Leferink M, Ben-Omran T. Klepper J, et al. Among authors: scheffer h. Neuropediatrics. 2009 Oct;40(5):207-10. doi: 10.1055/s-0030-1248264. Epub 2010 Mar 10. Neuropediatrics. 2009. PMID: 20221955
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA. Leen WG, et al. Among authors: scheffer h. Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. Brain. 2010. PMID: 20129935
MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course.
Zafeiriou DI, Rodenburg RJ, Scheffer H, van den Heuvel LP, Pouwels PJ, Ververi A, Athanasiadou-Piperopoulou F, van der Knaap MS. Zafeiriou DI, et al. Among authors: scheffer h. Neuropediatrics. 2008 Jun;39(3):172-5. doi: 10.1055/s-0028-1093336. Epub 2008 Nov 7. Neuropediatrics. 2008. PMID: 18991197
Milder phenotypes of glucose transporter type 1 deficiency syndrome.
Anand G, Padeniya A, Hanrahan D, Scheffer H, Zaiwalla Z, Cox D, Mann N, Hewertson J, Price S, Nemeth A, Arsov T, Scheffer I, Jayawant S, Pike M, McShane T. Anand G, et al. Among authors: scheffer i, scheffer h. Dev Med Child Neurol. 2011 Jul;53(7):664-8. doi: 10.1111/j.1469-8749.2011.03949.x. Epub 2011 Mar 24. Dev Med Child Neurol. 2011. PMID: 21649651 Free article.
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
de Bot ST, van den Elzen RT, Mensenkamp AR, Schelhaas HJ, Willemsen MA, Knoers NV, Kremer HP, van de Warrenburg BP, Scheffer H. de Bot ST, et al. Among authors: scheffer h. J Neurol Neurosurg Psychiatry. 2010 Oct;81(10):1073-8. doi: 10.1136/jnnp.2009.201103. Epub 2010 Jun 20. J Neurol Neurosurg Psychiatry. 2010. PMID: 20562464 Free article.
315 results