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Items: 10

1.

A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex.

Overwater IE, Rietman AB, Mous SE, Bindels-de Heus K, Rizopoulos D, Ten Hoopen LW, van der Vaart T, Jansen FE, Elgersma Y, Moll HA, de Wit MY; ENCORE Expertise Centre for Neurodevelopmental Disorders.

Neurology. 2019 Jul 9;93(2):e200-e209. doi: 10.1212/WNL.0000000000007749. Epub 2019 Jun 19.

PMID:
31217257
2.

Tuberous sclerosis complex: Concerns and needs of patients and parents from the transitional period to adulthood.

Both P, Ten Holt L, Mous S, Patist J, Rietman A, Dieleman G, Ten Hoopen L, Vergeer M, de Wit MC, Bindels-de Heus K, Moll H, van Eeghen A.

Epilepsy Behav. 2018 Jun;83:13-21. doi: 10.1016/j.yebeh.2018.03.012. Epub 2018 Apr 7.

PMID:
29631156
3.

Mixoploidy combined with aneuploidy in a 13 year-old patient with severe multiple congenital abnormalities and intellectual disability.

van Zutven LJCM, Mancini GMS, Bindels-de Heus KGCB, van den Akker ELT, Hulsman LOM, Smit M, Berna Beverloo H.

Am J Med Genet A. 2018 Feb;176(2):492-495. doi: 10.1002/ajmg.a.38553. Epub 2017 Dec 11. No abstract available.

PMID:
29226581
4.

Sirolimus for epilepsy in children with tuberous sclerosis complex: A randomized controlled trial.

Overwater IE, Rietman AB, Bindels-de Heus K, Looman CW, Rizopoulos D, Sibindi TM, Cherian PJ, Jansen FE, Moll HA, Elgersma Y, de Wit MC.

Neurology. 2016 Sep 6;87(10):1011-8. doi: 10.1212/WNL.0000000000003077. Epub 2016 Aug 10.

PMID:
27511181
5.

CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

Mancini GM, Schot R, de Wit MC, de Coo RF, Oostenbrink R, Bindels-de Heus K, Berger LP, Lequin MH, de Vries FA, Wilke M, van Slegtenhorst MA.

Neurology. 2016 Mar 1;86(9):877-8. doi: 10.1212/WNL.0000000000002422. Epub 2016 Feb 3. No abstract available.

PMID:
26843564
6.

Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs.

Overwater IE, Bindels-de Heus K, Rietman AB, Ten Hoopen LW, Vergouwe Y, Moll HA, de Wit MC.

Epilepsia. 2015 Aug;56(8):1239-45. doi: 10.1111/epi.13050. Epub 2015 Jun 4.

7.

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.

Nellist M, Schot R, Hoogeveen-Westerveld M, Neuteboom RF, van der Louw EJ, Lequin MH, Bindels-de Heus K, Sibbles BJ, de Coo R, Brooks A, Mancini GM.

Mol Genet Metab. 2015 Mar;114(3):467-73. doi: 10.1016/j.ymgme.2014.11.018. Epub 2014 Dec 5.

PMID:
25523067
8.

Transferring young people with profound intellectual and multiple disabilities from pediatric to adult medical care: parents' experiences and recommendations.

Bindels-de Heus KG, van Staa A, van Vliet I, Ewals FV, Hilberink SR.

Intellect Dev Disabil. 2013 Jun;51(3):176-89. doi: 10.1352/1934-9556-51.3.176.

PMID:
23834214
9.

ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.

Meuwissen ME, Lequin MH, Bindels-de Heus K, Bruggenwirth HT, Knapen MF, Dalinghaus M, de Coo R, van Bever Y, Winkelman BH, Mancini GM.

Am J Med Genet A. 2013 Jun;161A(6):1376-80. doi: 10.1002/ajmg.a.35858. Epub 2013 Apr 23.

PMID:
23613326
10.

Epidemiology of low bone mineral density and fractures in children with severe cerebral palsy: a systematic review.

Mergler S, Evenhuis HM, Boot AM, De Man SA, Bindels-De Heus KG, Huijbers WA, Penning C.

Dev Med Child Neurol. 2009 Oct;51(10):773-8. doi: 10.1111/j.1469-8749.2009.03384.x. Epub 2009 Jul 8. Review.

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