Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 35

1.

Tapping-lips aggravated interictal bilateral discharges in EEG in the patients with Rett syndrome: a case report.

Luo X, Li C, Wang X, Yu X, Jiang J.

BMC Neurol. 2019 May 1;19(1):77. doi: 10.1186/s12883-019-1296-4.

2.

Correlation Between Dysphagia and Malocclusion in Rett Syndrome: A preliminary study.

Cocca S, Viviano M, Loglisci M, Parrini S, Monciatti G, Paganelli II, Livi W, Mezzedimi C.

Sultan Qaboos Univ Med J. 2018 Nov;18(4):e489-e493. doi: 10.18295/squmj.2018.18.04.010. Epub 2019 Mar 28.

3.

A Coordinated Attack: Rett Syndrome Therapeutic Development.

Gogliotti RG, Niswender CM.

Trends Pharmacol Sci. 2019 Apr;40(4):233-236. doi: 10.1016/j.tips.2019.02.007. Review.

4.

Attention measures of patients with Rett Syndrome need to overcome the challenges in evaluating the oculomotor function using electronystagmography.

Fabio RA.

Eur J Paediatr Neurol. 2019 Mar;23(2):232. doi: 10.1016/j.ejpn.2019.02.008. No abstract available.

PMID:
30876649
5.

Regression in Rett syndrome: Developmental pathways to its onset.

Einspieler C, Marschik PB.

Neurosci Biobehav Rev. 2019 Mar;98:320-332. doi: 10.1016/j.neubiorev.2019.01.028. Review.

6.

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.

Brown M, Ashcraft P, Arning E, Bottiglieri T, McClintock W, Giancola F, Lieberman D, Hauser NS, Miller R, Roullet JB, Pearl P, Gibson KM.

Mol Genet Genomic Med. 2019 May;7(5):e629. doi: 10.1002/mgg3.629. Epub 2019 Mar 4.

7.

Attentional shifting and disengagement in Rett syndrome.

Rose SA, Wass S, Jankowski JJ, Feldman JF, Djukic A.

Neuropsychology. 2019 Mar;33(3):335-342. doi: 10.1037/neu0000515. Epub 2019 Jan 28.

PMID:
30688490
8.

Disturbed redox homeostasis and oxidative stress: Potential players in the developmental regression in Rett syndrome.

Müller M.

Neurosci Biobehav Rev. 2019 Mar;98:154-163. doi: 10.1016/j.neubiorev.2018.12.009. Epub 2019 Jan 9. Review.

PMID:
30639673
9.

Challenges in evaluating the oculomotor function in individuals with Rett syndrome using electronystagmography.

de Breet LHM, Townend GS, Curfs LMG, Kingma H, Smeets EEJ, Lucieer F, Widdershoven J, van de Berg R.

Eur J Paediatr Neurol. 2019 Mar;23(2):262-269. doi: 10.1016/j.ejpn.2018.12.003. Epub 2018 Dec 18.

PMID:
30635145
10.

Spoken word processing in Rett syndrome: Evidence from event-related potentials.

Key AP, Jones D, Peters S.

Int J Dev Neurosci. 2019 Apr;73:26-31. doi: 10.1016/j.ijdevneu.2019.01.001. Epub 2019 Jan 7.

PMID:
30630072
11.

"Living an Obstacle Course": A Qualitative Study Examining the Experiences of Caregivers of Children with Rett Syndrome.

Palacios-Ceña D, Famoso-Pérez P, Salom-Moreno J, Carrasco-Garrido P, Pérez-Corrales J, Paras-Bravo P, Güeita-Rodriguez J.

Int J Environ Res Public Health. 2018 Dec 25;16(1). pii: E41. doi: 10.3390/ijerph16010041.

12.

An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation.

Yoon JA, Yoo Y, Lee JS, Kim YM, Shin YB.

Mol Genet Genomic Med. 2019 Mar;7(3):e532. doi: 10.1002/mgg3.532. Epub 2018 Dec 19.

13.

Characterization of human mosaic Rett syndrome brain tissue by single-nucleus RNA sequencing.

Renthal W, Boxer LD, Hrvatin S, Li E, Silberfeld A, Nagy MA, Griffith EC, Vierbuchen T, Greenberg ME.

Nat Neurosci. 2018 Dec;21(12):1670-1679. doi: 10.1038/s41593-018-0270-6. Epub 2018 Nov 19.

14.

De novo mutations in SCN1A are associated with classic Rett syndrome: a case report.

Henriksen MW, Ravn K, Paus B, von Tetzchner S, Skjeldal OH.

BMC Med Genet. 2018 Oct 11;19(1):184. doi: 10.1186/s12881-018-0700-z.

15.

Facilitators and Barriers of Participation in "Uptime" Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals.

Stahlhut M, Esbensen BA, Larsen JL, Bisgaard AM, Downs J, Nordmark E.

Qual Health Res. 2019 Mar;29(4):609-619. doi: 10.1177/1049732318803358. Epub 2018 Oct 10.

PMID:
30304998
16.

Polysomnographic findings in Rett syndrome.

Amaddeo A, De Sanctis L, Arroyo JO, Khirani S, Bahi-Buisson N, Fauroux B.

Eur J Paediatr Neurol. 2019 Jan;23(1):214-221. doi: 10.1016/j.ejpn.2018.09.003. Epub 2018 Sep 12.

PMID:
30262236
17.

Regenerative glutamate release in the hippocampus of Rett syndrome model mice.

Balakrishnan S, Mironov SL.

PLoS One. 2018 Sep 26;13(9):e0202802. doi: 10.1371/journal.pone.0202802. eCollection 2018.

18.

Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation.

Tani H, Ishikawa N, Kobayashi Y, Yamaoka S, Fujii Y, Kaneko K, Takahashi T, Kobayashi M.

Brain Dev. 2018 Nov;40(10):943-946. doi: 10.1016/j.braindev.2018.06.011. Epub 2018 Jul 4.

PMID:
30227938
19.

Quality of life related to clinical features in patients with Rett syndrome and their parents: a systematic review.

Corchón S, Carrillo-López I, Cauli O.

Metab Brain Dis. 2018 Dec;33(6):1801-1810. doi: 10.1007/s11011-018-0316-1. Epub 2018 Sep 16.

PMID:
30220073
20.

Behavioral profiles in Rett syndrome: Data from the natural history study.

Buchanan CB, Stallworth JL, Scott AE, Glaze DG, Lane JB, Skinner SA, Tierney AE, Percy AK, Neul JL, Kaufmann WE.

Brain Dev. 2019 Feb;41(2):123-134. doi: 10.1016/j.braindev.2018.08.008. Epub 2018 Sep 11.

PMID:
30217666

Supplemental Content

Loading ...
Support Center