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
96 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
Child neurology: differential diagnosis of a low CSF glucose in children and young adults.
Leen WG, de Wit CJ, Wevers RA, van Engelen BG, Kamsteeg EJ, Klepper J, Verbeek MM, Willemsen MA.
Leen WG, et al. Among authors: klepper j.
Neurology. 2013 Dec 10;81(24):e178-81. doi: 10.1212/01.wnl.0000437294.20817.99.
Neurology. 2013.
PMID: 24323444
Review.
Item in Clipboard
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.
Willemsen MA, Vissers LE, Verbeek MM, van Bon BW, Geuer S, Gilissen C, Klepper J, Kwint MP, Leen WG, Pennings M, Wevers RA, Veltman JA, Kamsteeg EJ.
Willemsen MA, et al. Among authors: klepper j.
Eur J Hum Genet. 2017 Jun;25(6):771-774. doi: 10.1038/ejhg.2017.45. Epub 2017 Apr 5.
Eur J Hum Genet. 2017.
PMID: 28378819
Free PMC article.
Item in Clipboard
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.
Klepper J, Scheffer H, Leiendecker B, Gertsen E, Binder S, Leferink M, Hertzberg C, Näke A, Voit T, Willemsen MA.
Klepper J, et al.
Neuropediatrics. 2005 Oct;36(5):302-8. doi: 10.1055/s-2005-872843.
Neuropediatrics. 2005.
PMID: 16217704
Clinical Trial.
Item in Clipboard
Autosomal recessive inheritance of GLUT1 deficiency syndrome.
Klepper J, Scheffer H, Elsaid MF, Kamsteeg EJ, Leferink M, Ben-Omran T.
Klepper J, et al.
Neuropediatrics. 2009 Oct;40(5):207-10. doi: 10.1055/s-0030-1248264. Epub 2010 Mar 10.
Neuropediatrics. 2009.
PMID: 20221955
Item in Clipboard
Hypoglycorrhachia: a simple clue, simply missed.
Willemsen MA, Verrips A, Verbeek MM, Voit T, Klepper J.
Willemsen MA, et al. Among authors: klepper j.
Ann Neurol. 2001 May;49(5):685-6.
Ann Neurol. 2001.
PMID: 11357965
No abstract available.
Item in Clipboard
Refractory absence epilepsy associated with GLUT-1 deficiency syndrome.
Byrne S, Kearns J, Carolan R, Mc Menamin J, Klepper J, Webb D.
Byrne S, et al. Among authors: klepper j.
Epilepsia. 2011 May;52(5):1021-4. doi: 10.1111/j.1528-1167.2011.02989.x. Epub 2011 Mar 2.
Epilepsia. 2011.
PMID: 21366555
Free article.
Item in Clipboard
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
Klepper J, Akman C, Armeno M, Auvin S, Cervenka M, Cross HJ, De Giorgis V, Della Marina A, Engelstad K, Heussinger N, Kossoff EH, Leen WG, Leiendecker B, Monani UR, Oguni H, Neal E, Pascual JM, Pearson TS, Pons R, Scheffer IE, Veggiotti P, Willemsen M, Zuberi SM, De Vivo DC.
Klepper J, et al.
Epilepsia Open. 2020 Aug 13;5(3):354-365. doi: 10.1002/epi4.12414. eCollection 2020 Sep.
Epilepsia Open. 2020.
PMID: 32913944
Free PMC article.
Item in Clipboard
Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy.
Koy A, Assmann B, Klepper J, Mayatepek E.
Koy A, et al. Among authors: klepper j.
Dev Med Child Neurol. 2011 Dec;53(12):1154-6. doi: 10.1111/j.1469-8749.2011.04082.x. Epub 2011 Aug 12.
Dev Med Child Neurol. 2011.
PMID: 21838819
Free article.
Item in Clipboard
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS.
Wolff M, et al. Among authors: klepper j.
Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054.
Brain. 2017.
PMID: 28379373
Item in Clipboard
Cite
96
results
Cite