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Items: 1 to 50 of 112

1.

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.

Bindels-de Heus KGCB, Mous SE, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Navis C, Rietman AB, Ten Hoopen LW, Brooks AS; ENCORE Expertise Center for AS, Elgersma Y, Moll HA, de Wit MY.

Am J Med Genet A. 2019 Nov 15. doi: 10.1002/ajmg.a.61382. [Epub ahead of print]

PMID:
31729827
2.

Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.

Heimer G, van Woerden GM, Barel O, Marek-Yagel D, Kol N, Munting JB, Borghei M, Atawneh OM, Nissenkorn A, Rechavi G, Anikster Y, Elgersma Y, Kushner SA, Ben Zeev B.

Hum Mutat. 2019 Nov 6. doi: 10.1002/humu.23945. [Epub ahead of print]

PMID:
31692205
3.

Effects of antiepileptic drugs in a new TSC/mTOR-dependent epilepsy mouse model.

Koene LMC, van Grondelle SE, Proietti Onori M, Wallaard I, Kooijman NHRM, van Oort A, Schreiber J, Elgersma Y.

Ann Clin Transl Neurol. 2019 Jul;6(7):1273-1291. doi: 10.1002/acn3.50829. Epub 2019 Jun 24.

4.

Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.

Avagliano Trezza R, Sonzogni M, Bossuyt SNV, Zampeta FI, Punt AM, van den Berg M, Rotaru DC, Koene LMC, Munshi ST, Stedehouder J, Kros JM, Williams M, Heussler H, de Vrij FMS, Mientjes EJ, van Woerden GM, Kushner SA, Distel B, Elgersma Y.

Nat Neurosci. 2019 Aug;22(8):1235-1247. doi: 10.1038/s41593-019-0425-0. Epub 2019 Jun 24.

PMID:
31235931
5.

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
6.

Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes.

Sonzogni M, Hakonen J, Bernabé Kleijn M, Silva-Santos S, Judson MC, Philpot BD, van Woerden GM, Elgersma Y.

Mol Autism. 2019 May 22;10:23. doi: 10.1186/s13229-019-0277-1. eCollection 2019.

7.

CAMK2-Dependent Signaling in Neurons Is Essential for Survival.

Kool MJ, Proietti Onori M, Borgesius NZ, van de Bree JE, Elgersma-Hooisma M, Nio E, Bezstarosti K, Buitendijk GHS, Aghadavoud Jolfaei M, Demmers JAA, Elgersma Y, van Woerden GM.

J Neurosci. 2019 Jul 10;39(28):5424-5439. doi: 10.1523/JNEUROSCI.1341-18.2019. Epub 2019 May 7.

PMID:
31064859
8.

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M.

Am J Med Genet A. 2019 Jun;179(6):1091-1097. doi: 10.1002/ajmg.a.61125. Epub 2019 Mar 25.

PMID:
30908877
9.

From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.

Ferner RE, Bakker A, Elgersma Y, Evans DGR, Giovannini M, Legius E, Lloyd A, Messiaen LM, Plotkin S, Reilly KM, Schindeler A, Smith MJ, Ullrich NJ, Widemann B, Sherman LS.

Am J Med Genet A. 2019 Jun;179(6):1098-1106. doi: 10.1002/ajmg.a.61112. Epub 2019 Mar 25.

PMID:
30908866
10.

A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants.

Sonzogni M, Wallaard I, Santos SS, Kingma J, du Mee D, van Woerden GM, Elgersma Y.

Mol Autism. 2018 Sep 14;9:47. doi: 10.1186/s13229-018-0231-7. eCollection 2018.

11.

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.

Proietti Onori M, Koopal B, Everman DB, Worthington JD, Jones JR, Ploeg MA, Mientjes E, van Bon BW, Kleefstra T, Schulman H, Kushner SA, Küry S, Elgersma Y, van Woerden GM.

Hum Mutat. 2018 Dec;39(12):2008-2024. doi: 10.1002/humu.23647. Epub 2018 Sep 19.

12.

Adult Ube3a Gene Reinstatement Restores the Electrophysiological Deficits of Prefrontal Cortex Layer 5 Neurons in a Mouse Model of Angelman Syndrome.

Rotaru DC, van Woerden GM, Wallaard I, Elgersma Y.

J Neurosci. 2018 Sep 12;38(37):8011-8030. doi: 10.1523/JNEUROSCI.0083-18.2018. Epub 2018 Aug 6.

13.

Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1).

Eijk S, Mous SE, Dieleman GC, Dierckx B, Rietman AB, de Nijs PFA, Ten Hoopen LW, van Minkelen R, Elgersma Y, Catsman-Berrevoets CE, Oostenbrink R, Legerstee JS.

J Autism Dev Disord. 2018 Jul;48(7):2278-2285. doi: 10.1007/s10803-018-3478-0.

14.

Enhanced Transmission at the Calyx of Held Synapse in a Mouse Model for Angelman Syndrome.

Wang T, van Woerden GM, Elgersma Y, Borst JGG.

Front Cell Neurosci. 2018 Jan 4;11:418. doi: 10.3389/fncel.2017.00418. eCollection 2017.

15.

Modulation of Murine Olivary Connexin 36 Gap Junctions by PKA and CaMKII.

Bazzigaluppi P, Isenia SC, Haasdijk ED, Elgersma Y, De Zeeuw CI, van der Giessen RS, de Jeu MTG.

Front Cell Neurosci. 2017 Dec 14;11:397. doi: 10.3389/fncel.2017.00397. eCollection 2017.

16.

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PMJ, Hoencamp E, Bergink V; GROUP Study Consortium, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA.

Mol Psychiatry. 2019 May;24(5):757-771. doi: 10.1038/s41380-017-0004-2. Epub 2018 Jan 4.

17.

Improvement of ubiquitylation site detection by Orbitrap mass spectrometry.

van der Wal L, Bezstarosti K, Sap KA, Dekkers DHW, Rijkers E, Mientjes E, Elgersma Y, Demmers JAA.

J Proteomics. 2018 Feb 10;172:49-56. doi: 10.1016/j.jprot.2017.10.014. Epub 2017 Nov 6.

18.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S.

Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.

19.

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF, Kousi M, van Woerden GM, Klein M, Bralten J, Mancini GMS, van Essen T, Proietti-Onori M, Smeets EEJ, van Gastel M, Stegmann APA, Stevens SJC, Lelieveld SH, Gilissen C, Pfundt R, Tan PL, Kleefstra T, Franke B, Elgersma Y, Katsanis N, Brunner HG.

Nat Commun. 2017 Oct 20;8(1):1052. doi: 10.1038/s41467-017-00933-6.

20.

A brain proteomic investigation of rapamycin effects in the Tsc1+/- mouse model.

Wesseling H, Elgersma Y, Bahn S.

Mol Autism. 2017 Aug 1;8:41. doi: 10.1186/s13229-017-0151-y. eCollection 2017.

21.

Ube3a loss increases excitability and blunts orientation tuning in the visual cortex of Angelman syndrome model mice.

Wallace ML, van Woerden GM, Elgersma Y, Smith SL, Philpot BD.

J Neurophysiol. 2017 Jul 1;118(1):634-646. doi: 10.1152/jn.00618.2016. Epub 2017 May 3.

22.

Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models.

Schreiber J, Grimbergen LA, Overwater I, Vaart TV, Stedehouder J, Schuhmacher AJ, Guerra C, Kushner SA, Jaarsma D, Elgersma Y.

Sci Rep. 2017 Apr 28;7(1):1256. doi: 10.1038/s41598-017-01218-0.

23.

Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex.

Overwater IE, Verhaar BJ, Lingsma HF, Bindels-de Heus GC, van den Ouweland AM, Nellist M, Ten Hoopen LW, Elgersma Y, Moll HA, de Wit MC.

J Neurol. 2017 Jan;264(1):161-167. doi: 10.1007/s00415-016-8335-5. Epub 2016 Nov 22.

24.

Calcium threshold shift enables frequency-independent control of plasticity by an instructive signal.

Piochon C, Titley HK, Simmons DH, Grasselli G, Elgersma Y, Hansel C.

Proc Natl Acad Sci U S A. 2016 Nov 15;113(46):13221-13226. Epub 2016 Oct 31.

25.

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
26.

The molecular, temporal and region-specific requirements of the beta isoform of Calcium/Calmodulin-dependent protein kinase type 2 (CAMK2B) in mouse locomotion.

Kool MJ, van de Bree JE, Bodde HE, Elgersma Y, van Woerden GM.

Sci Rep. 2016 May 31;6:26989. doi: 10.1038/srep26989.

27.

Arc expression identifies the lateral amygdala fear memory trace.

Gouty-Colomer LA, Hosseini B, Marcelo IM, Schreiber J, Slump DE, Yamaguchi S, Houweling AR, Jaarsma D, Elgersma Y, Kushner SA.

Mol Psychiatry. 2016 Aug;21(8):1153. doi: 10.1038/mp.2016.91. Epub 2016 May 24. No abstract available.

PMID:
27217149
28.

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.

Stevenson DA, Schill L, Schoyer L, Andresen BS, Bakker A, Bayrak-Toydemir P, Burkitt-Wright E, Chatfield K, Elefteriou F, Elgersma Y, Fisher MJ, Franz D, Gelb BD, Goriely A, Gripp KW, Hardan AY, Keppler-Noreuil KM, Kerr B, Korf B, Leoni C, McCormick F, Plotkin SR, Rauen KA, Reilly K, Roberts A, Sandler A, Siegel D, Walsh K, Widemann BC.

Am J Med Genet A. 2016 Aug;170(8):1959-66. doi: 10.1002/ajmg.a.37723. Epub 2016 May 7.

29.

GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility.

Judson MC, Wallace ML, Sidorov MS, Burette AC, Gu B, van Woerden GM, King IF, Han JE, Zylka MJ, Elgersma Y, Weinberg RJ, Philpot BD.

Neuron. 2016 Apr 6;90(1):56-69. doi: 10.1016/j.neuron.2016.02.040. Epub 2016 Mar 24.

30.

Impaired Neurite Contact Guidance in Ubiquitin Ligase E3a (Ube3a)-Deficient Hippocampal Neurons on Nanostructured Substrates.

Tonazzini I, Meucci S, Van Woerden GM, Elgersma Y, Cecchini M.

Adv Healthc Mater. 2016 Apr 6;5(7):850-62. doi: 10.1002/adhm.201500815. Epub 2016 Feb 4.

PMID:
26845073
31.

Behavioral and cognitive outcomes for clinical trials in children with neurofibromatosis type 1.

van der Vaart T, Rietman AB, Plasschaert E, Legius E, Elgersma Y, Moll HA; NF1-SIMCODA Study Group.

Neurology. 2016 Jan 12;86(2):154-60. doi: 10.1212/WNL.0000000000002118. Epub 2015 Oct 30.

32.

Neurofibromin regulates HCN activity in Parvalbumin-positive interneurons.

Omrani A, van Woerden GM, Elgersma Y.

Mol Psychiatry. 2015 Nov;20(11):1263. doi: 10.1038/mp.2015.154. No abstract available.

PMID:
26487477
33.

Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model.

Bruinsma CF, Schonewille M, Gao Z, Aronica EM, Judson MC, Philpot BD, Hoebeek FE, van Woerden GM, De Zeeuw CI, Elgersma Y.

J Clin Invest. 2015 Nov 2;125(11):4305-15. doi: 10.1172/JCI83541. Epub 2015 Oct 20.

34.

An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.

Bruinsma CF, Savelberg SM, Kool MJ, Jolfaei MA, Van Woerden GM, Baarends WM, Elgersma Y.

Hum Mol Genet. 2016 Jan 1;25(1):1-8. doi: 10.1093/hmg/ddv436. Epub 2015 Oct 16.

PMID:
26476408
35.

Neurodevelopmental disease: A molecular tightrope.

Elgersma Y.

Nature. 2015 Oct 1;526(7571):50-1. doi: 10.1038/526050b. No abstract available.

PMID:
26432241
36.

PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex.

Alves MM, Fuhler GM, Queiroz KC, Scholma J, Goorden S, Anink J, Spek CA, Hoogeveen-Westerveld M, Bruno MJ, Nellist M, Elgersma Y, Aronica E, Peppelenbosch MP.

Sci Rep. 2015 Sep 28;5:14534. doi: 10.1038/srep14534.

37.

In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome.

Wang T, de Kok L, Willemsen R, Elgersma Y, Borst JG.

Front Cell Neurosci. 2015 Jul 3;9:234. doi: 10.3389/fncel.2015.00234. eCollection 2015.

38.

Treatment of Cognitive Deficits in Genetic Disorders: A Systematic Review of Clinical Trials of Diet and Drug Treatments.

van der Vaart T, Overwater IE, Oostenbrink R, Moll HA, Elgersma Y.

JAMA Neurol. 2015 Sep;72(9):1052-60. doi: 10.1001/jamaneurol.2015.0443. Review.

PMID:
26168015
39.

HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1.

Omrani A, van der Vaart T, Mientjes E, van Woerden GM, Hojjati MR, Li KW, Gutmann DH, Levelt CN, Smit AB, Silva AJ, Kushner SA, Elgersma Y.

Mol Psychiatry. 2015 Nov;20(11):1311-21. doi: 10.1038/mp.2015.48. Epub 2015 Apr 28.

40.

The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.

Korf B, Ahmadian R, Allanson J, Aoki Y, Bakker A, Wright EB, Denger B, Elgersma Y, Gelb BD, Gripp KW, Kerr B, Kontaridis M, Lazaro C, Linardic C, Lozano R, MacRae CA, Messiaen L, Mulero-Navarro S, Neel B, Plotkin S, Rauen KA, Roberts A, Silva AJ, Sittampalam SG, Zhang C, Schoyer L.

Am J Med Genet A. 2015 Aug;167A(8):1741-6. doi: 10.1002/ajmg.a.37089. Epub 2015 Apr 21.

41.

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.

Silva-Santos S, van Woerden GM, Bruinsma CF, Mientjes E, Jolfaei MA, Distel B, Kushner SA, Elgersma Y.

J Clin Invest. 2015 May;125(5):2069-76. doi: 10.1172/JCI80554. Epub 2015 Apr 13.

42.

Arc expression identifies the lateral amygdala fear memory trace.

Gouty-Colomer LA, Hosseini B, Marcelo IM, Schreiber J, Slump DE, Yamaguchi S, Houweling AR, Jaarsma D, Elgersma Y, Kushner SA.

Mol Psychiatry. 2016 Mar;21(3):364-75. doi: 10.1038/mp.2015.18. Epub 2015 Mar 24. Erratum in: Mol Psychiatry. 2016 Aug;21(8):1153.

43.

Intact neuronal function in Rheb1 mutant mice: implications for TORC1-based treatments.

Goorden SM, Abs E, Bruinsma CF, Riemslagh FW, van Woerden GM, Elgersma Y.

Hum Mol Genet. 2015 Jun 15;24(12):3390-8. doi: 10.1093/hmg/ddv087. Epub 2015 Mar 10.

PMID:
25759467
44.

Conditional deletion of α-CaMKII impairs integration of adult-generated granule cells into dentate gyrus circuits and hippocampus-dependent learning.

Arruda-Carvalho M, Restivo L, Guskjolen A, Epp JR, Elgersma Y, Josselyn SA, Frankland PW.

J Neurosci. 2014 Sep 3;34(36):11919-28. doi: 10.1523/JNEUROSCI.0652-14.2014.

45.

Temporal and region-specific requirements of αCaMKII in spatial and contextual learning.

Achterberg KG, Buitendijk GH, Kool MJ, Goorden SM, Post L, Slump DE, Silva AJ, van Woerden GM, Kushner SA, Elgersma Y.

J Neurosci. 2014 Aug 20;34(34):11180-7. doi: 10.1523/JNEUROSCI.0640-14.2014.

46.

Distinct roles of α- and βCaMKII in controlling long-term potentiation of GABAA-receptor mediated transmission in murine Purkinje cells.

Gao Z, van Woerden GM, Elgersma Y, De Zeeuw CI, Hoebeek FE.

Front Cell Neurosci. 2014 Feb 3;8:16. doi: 10.3389/fncel.2014.00016. eCollection 2014.

47.

Mammalian target of rapamycin complex I (mTORC1) activity in ras homologue enriched in brain (Rheb)-deficient mouse embryonic fibroblasts.

Groenewoud MJ, Goorden SM, Kassies J, Pellis-van Berkel W, Lamb RF, Elgersma Y, Zwartkruis FJ.

PLoS One. 2013 Nov 26;8(11):e81649. doi: 10.1371/journal.pone.0081649. eCollection 2013.

48.

Treatment of intractable epilepsy in tuberous sclerosis complex with everolimus is not yet evidence-based.

Overwater IE, Rietman AB, Elgersma Y, de Wit MC.

Ann Neurol. 2014 Jan;75(1):163-4. doi: 10.1002/ana.24047. Epub 2014 Jan 2. No abstract available.

PMID:
24243580
49.

Interaction of SH-SY5Y cells with nanogratings during neuronal differentiation: comparison with primary neurons.

Tonazzini I, Cecchini A, Elgersma Y, Cecchini M.

Adv Healthc Mater. 2014 Apr;3(4):581-7. doi: 10.1002/adhm.201300216. Epub 2013 Oct 1.

PMID:
24115396
50.

Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial.

van der Vaart T, Plasschaert E, Rietman AB, Renard M, Oostenbrink R, Vogels A, de Wit MC, Descheemaeker MJ, Vergouwe Y, Catsman-Berrevoets CE, Legius E, Elgersma Y, Moll HA.

Lancet Neurol. 2013 Nov;12(11):1076-83. doi: 10.1016/S1474-4422(13)70227-8. Epub 2013 Oct 1.

PMID:
24090588

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