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1999 1
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57 results

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Page 1
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Northrup H, et al. Pediatr Neurol. 2021 Oct;123:50-66. doi: 10.1016/j.pediatrneurol.2021.07.011. Epub 2021 Jul 24. Pediatr Neurol. 2021. PMID: 34399110 Free article.
International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).
de Vries PJ, Heunis TM, Vanclooster S, Chambers N, Bissell S, Byars AW, Flinn J, Gipson TT, van Eeghen AM, Waltereit R, Capal JK, Cukier S, Davis PE, Smith C, Kingswood JC, Schoeters E, Srivastava S, Takei M, Gardner-Lubbe S, Kumm AJ, Krueger DA, Sahin M, De Waele L, Jansen AC. de Vries PJ, et al. Among authors: van eeghen am. J Neurodev Disord. 2023 Sep 14;15(1):32. doi: 10.1186/s11689-023-09500-1. J Neurodev Disord. 2023. PMID: 37710171 Free PMC article.
Self-injurious behavior.
Huisman S, Mulder P, Kuijk J, Kerstholt M, van Eeghen A, Leenders A, van Balkom I, Oliver C, Piening S, Hennekam R. Huisman S, et al. Among authors: van eeghen a. Neurosci Biobehav Rev. 2018 Jan;84:483-491. doi: 10.1016/j.neubiorev.2017.02.027. Epub 2017 Jul 8. Neurosci Biobehav Rev. 2018. PMID: 28694012 Free article. Review.
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F, Bebin M, Dies K, Thompson C, Sparagana SP, Davies P, van Eeghen AM, Thiele EA, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: van eeghen am. Hum Mutat. 2013 Jan;34(1):167-75. doi: 10.1002/humu.22202. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22903760
[Fragile X syndrome: new therapeutic strategies].
Zeidler S, Dierckx B, Lubbers K, van Eeghen AM, Lincke CR, Kievit JA, Willemsen R, Rietman A. Zeidler S, et al. Among authors: van eeghen am. Tijdschr Psychiatr. 2018;60(5):338-342. Tijdschr Psychiatr. 2018. PMID: 29766482 Free article. Review. Dutch.
Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review.
von Scheibler ENMM, van Eeghen AM, de Koning TJ, Kuijf ML, Zinkstok JR, Müller AR, van Amelsvoort TAMJ, Boot E. von Scheibler ENMM, et al. Among authors: van eeghen am. Mov Disord Clin Pract. 2022 Oct 31;10(1):17-31. doi: 10.1002/mdc3.13577. eCollection 2023 Jan. Mov Disord Clin Pract. 2022. PMID: 36699000 Free PMC article. Review.
Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review.
Kwetsie H, van Schaijk M, Van Der Lee S, Maes-Festen D, Ten Hoopen LW, van Haelst MM, Coesmans M, Van Den Berg E, De Wit MCY, Pijnenburg Y, Aronica E, Boot E, Van Eeghen AM. Kwetsie H, et al. Among authors: van eeghen am. Neurology. 2024 Jun 11;102(11):e209413. doi: 10.1212/WNL.0000000000209413. Epub 2024 May 17. Neurology. 2024. PMID: 38759134 Free PMC article.
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.
Müller AR, den Hollander B, van de Ven PM, Roes KCB, Geertjens L, Bruining H, van Karnebeek CDM, Jansen FE, de Wit MCY, Ten Hoopen LW, Rietman AB, Dierckx B, Wijburg FA, Boot E, Brands MMG, van Eeghen AM. Müller AR, et al. Among authors: van eeghen am. BMC Psychiatry. 2024 Jan 4;24(1):23. doi: 10.1186/s12888-023-05422-3. BMC Psychiatry. 2024. PMID: 38177999 Free PMC article.
Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials.
den Hollander B, Rothuizen-Lindenschot M, Geertjens L, Vaz FM, Brands MM, Le HL, van Eeghen AM, van de Ven PM, Cornel MC, Jacobs BAW, Bruining H, van Karnebeek CD. den Hollander B, et al. Among authors: van eeghen am. Contemp Clin Trials Commun. 2023 Nov 17;36:101233. doi: 10.1016/j.conctc.2023.101233. eCollection 2023 Dec. Contemp Clin Trials Commun. 2023. PMID: 38144875 Free PMC article.
57 results