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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 and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H.
Mihaylova V, et al. Among authors: weschke b.
Brain. 2008 Mar;131(Pt 3):747-59. doi: 10.1093/brain/awm325. Epub 2008 Jan 7.
Brain. 2008.
PMID: 18180250
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Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, Kok F, Leuzzi V, de Lonlay P, Megarbane A, Monaghan H, Renier WO, Rondot P, Ryan MM, Seeger J, Smeitink JA, Steenbergen-Spanjers GC, Wassmer E, Weschke B, Wijburg FA, Wilcken B, Zafeiriou DI, Wevers RA.
Willemsen MA, et al. Among authors: weschke b.
Brain. 2010 Jun;133(Pt 6):1810-22. doi: 10.1093/brain/awq087. Epub 2010 Apr 29.
Brain. 2010.
PMID: 20430833
Free article.
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Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease.
Henneke M, Gegner S, Hahn A, Plecko-Startinig B, Weschke B, Gärtner J, Brockmann K.
Henneke M, et al. Among authors: weschke b.
Neurology. 2010 Jun 1;74(22):1785-9. doi: 10.1212/WNL.0b013e3181e0f820.
Neurology. 2010.
PMID: 20513814
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Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group; van der Knaap MS.
Hamilton EMC, et al.
Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6.
Ann Neurol. 2018.
PMID: 30014503
Free PMC article.
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Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.
Kotulska K, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Jansen F, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Sijko K, Głowacka-Walas J, Borkowska J, Sadowski K, Domańska-Pakieła D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Benova B, Aronica E, de Ridder J, Lagae L, Jóźwiak S; EPISTOP Investigators.
Kotulska K, et al. Among authors: weschke b.
Ann Neurol. 2021 Feb;89(2):304-314. doi: 10.1002/ana.25956. Epub 2020 Nov 27.
Ann Neurol. 2021.
PMID: 33180985
Free PMC article.
Clinical Trial.
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Long-term results of deep brain stimulation in a cohort of eight children with isolated dystonia.
Krause P, Lauritsch K, Lipp A, Horn A, Weschke B, Kupsch A, Kiening KL, Schneider GH, Kühn AA.
Krause P, et al. Among authors: weschke b.
J Neurol. 2016 Nov;263(11):2319-2326. doi: 10.1007/s00415-016-8253-6. Epub 2016 Aug 27.
J Neurol. 2016.
PMID: 27567612
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Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study.
De Ridder J, Kotulska K, Curatolo P, Jansen AC, Aronica E, Kwiatkowski DJ, Jansen FE, Jóźwiak S, Lagae L; Epistop Consortium.
De Ridder J, et al.
Dev Med Child Neurol. 2022 Apr;64(4):495-501. doi: 10.1111/dmcn.15073. Epub 2021 Oct 2.
Dev Med Child Neurol. 2022.
PMID: 34601720
Free article.
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Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex.
Thumfart J, Weschke B, Ringe H, Weinhold N, Müller D.
Thumfart J, et al. Among authors: weschke b.
Eur J Paediatr Neurol. 2016 Jul;20(4):649-51. doi: 10.1016/j.ejpn.2016.04.014. Epub 2016 May 3.
Eur J Paediatr Neurol. 2016.
PMID: 27185581
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Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex.
Hulshof HM, Slot EMH, Lequin M, Breuillard D, Boddaert N, Jozwiak S, Kotulska K, Riney K, Feucht M, Samueli S, Scholl T, Krsek P, Benova B, Braun KPJ, Jansen FE, Nabbout R; EPISTOP consortium.
Hulshof HM, et al.
J Pediatr. 2021 Jun;233:156-162.e2. doi: 10.1016/j.jpeds.2021.02.060. Epub 2021 Feb 26.
J Pediatr. 2021.
PMID: 33640330
Free article.
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