Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
248 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2.
Brain. 2010.
PMID: 20129935
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.
Item in Clipboard
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S.
Engelen M, et al.
Brain. 2014 Mar;137(Pt 3):693-706. doi: 10.1093/brain/awt361. Epub 2014 Jan 29.
Brain. 2014.
PMID: 24480483
Item in Clipboard
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR 2nd, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S.
van Karnebeek CD, et al.
Pediatr Neurol. 2016 Jun;59:6-12. doi: 10.1016/j.pediatrneurol.2015.12.013. Epub 2016 Jan 11.
Pediatr Neurol. 2016.
PMID: 26995068
Review.
Item in Clipboard
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group.
Wolf NI, et al.
Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.
Neurology. 2014.
PMID: 25339210
Free PMC article.
Item in Clipboard
Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study.
Ketelslegers IA, Catsman-Berrevoets CE, Neuteboom RF, Boon M, van Dijk KG, Eikelenboom MJ, Gooskens RH, Niks EH, Overweg-Plandsoen WC, Peeters EA, Peeters-Scholte CM, Poll-The BT, de Rijk-van Andel JF, Samijn JP, Snoeck IN, Stroink H, Vermeulen RJ, Verrips A, Vles JS, Willemsen MA, Rodrigues Pereira R, Hintzen RQ.
Ketelslegers IA, et al.
J Neurol. 2012 Sep;259(9):1929-35. doi: 10.1007/s00415-012-6441-6. Epub 2012 Feb 17.
J Neurol. 2012.
PMID: 22349866
Free PMC article.
Item in Clipboard
Is hearing loss a feature of Joubert syndrome, a ciliopathy?
Kroes HY, Van Zanten BG, De Ru SA, Boon M, Mancini GM, Van der Knaap MS, Poll-The BT, Lindhout D.
Kroes HY, et al.
Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1034-8. doi: 10.1016/j.ijporl.2010.05.034. Epub 2010 Jun 29.
Int J Pediatr Otorhinolaryngol. 2010.
PMID: 20591505
Item in Clipboard
Clinical and biochemical spectrum of D-bifunctional protein deficiency.
Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gärtner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT.
Ferdinandusse S, et al.
Ann Neurol. 2006 Jan;59(1):92-104. doi: 10.1002/ana.20702.
Ann Neurol. 2006.
PMID: 16278854
Item in Clipboard
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YE, Backx AP, Nürnberg G, Nürnberg P, Baas F.
Weterman MA, et al.
Brain. 2013 Jan;136(Pt 1):282-93. doi: 10.1093/brain/aws293.
Brain. 2013.
PMID: 23365102
Item in Clipboard
The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.
Bok LA, Maurits NM, Willemsen MA, Jakobs C, Teune LK, Poll-The BT, de Coo IF, Toet MC, Hagebeuk EE, Brouwer OF, van der Hoeven JH, Sival DA.
Bok LA, et al.
Epilepsia. 2010 Dec;51(12):2406-11. doi: 10.1111/j.1528-1167.2010.02747.x. Epub 2010 Sep 30.
Epilepsia. 2010.
PMID: 20887371
Free article.
Item in Clipboard
Cite
248
results
Cite