185 related articles for article (PubMed ID: 29349289)
21. Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
Mathieu ML; de Bellescize J; Till M; Flurin V; Labalme A; Chatron N; Sanlaville D; Chemaly N; des Portes V; Ostrowsky K; Arzimanoglou A; Lesca G
Eur J Paediatr Neurol; 2018 Nov; 22(6):1124-1132. PubMed ID: 30126759
[TBL] [Abstract][Full Text] [Related]
22. Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome.
Yalcintepe S; Gurkan H
Clin Dysmorphol; 2021 Jan; 30(1):36-38. PubMed ID: 33278113
[TBL] [Abstract][Full Text] [Related]
23. Impaired posttranslational processing and trafficking of an endosomal Na+/H+ exchanger NHE6 mutant (Δ(370)WST(372)) associated with X-linked intellectual disability and autism.
Ilie A; Weinstein E; Boucher A; McKinney RA; Orlowski J
Neurochem Int; 2014 Jul; 73():192-203. PubMed ID: 24090639
[TBL] [Abstract][Full Text] [Related]
24. Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with
Padmanabha H; Saini AG; Sahu JK; Singhi P
BMJ Case Rep; 2017 Dec; 2017():. PubMed ID: 29275387
[No Abstract] [Full Text] [Related]
25. X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.
Strømme P; Dobrenis K; Sillitoe RV; Gulinello M; Ali NF; Davidson C; Micsenyi MC; Stephney G; Ellevog L; Klungland A; Walkley SU
Brain; 2011 Nov; 134(Pt 11):3369-83. PubMed ID: 21964919
[TBL] [Abstract][Full Text] [Related]
26. Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies.
Lizarraga SB; Ma L; Maguire AM; van Dyck LI; Wu Q; Ouyang Q; Kavanaugh BC; Nagda D; Livi LL; Pescosolido MF; Schmidt M; Alabi S; Cowen MH; Brito-Vargas P; Hoffman-Kim D; Gamsiz Uzun ED; Schlessinger A; Jones RN; Morrow EM
Sci Transl Med; 2021 Feb; 13(580):. PubMed ID: 33568516
[TBL] [Abstract][Full Text] [Related]
27. The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.
Sinajon P; Verbaan D; So J
Hum Genet; 2016 Aug; 135(8):841-50. PubMed ID: 27142213
[TBL] [Abstract][Full Text] [Related]
28. Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development.
Ouyang Q; Lizarraga SB; Schmidt M; Yang U; Gong J; Ellisor D; Kauer JA; Morrow EM
Neuron; 2013 Oct; 80(1):97-112. PubMed ID: 24035762
[TBL] [Abstract][Full Text] [Related]
29. Novel SLC9A6 mutations in two families with Christianson syndrome.
Riess A; Rossier E; Krüger R; Dufke A; Beck-Woedl S; Horber V; Alber M; Gläser D; Riess O; Tzschach A
Clin Genet; 2013 Jun; 83(6):596-7. PubMed ID: 22931061
[No Abstract] [Full Text] [Related]
30. Case Report: Christianson Syndrome Caused by
Lan Y; Yi S; Li M; Wang J; Yang Q; Yi S; Chen F; Huang L; Ruan Y; Shen Y; Luo J; Qin Z
Front Genet; 2021; 12():783841. PubMed ID: 34987551
[TBL] [Abstract][Full Text] [Related]
31. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Gilfillan GD; Selmer KK; Roxrud I; Smith R; Kyllerman M; Eiklid K; Kroken M; Mattingsdal M; Egeland T; Stenmark H; Sjøholm H; Server A; Samuelsson L; Christianson A; Tarpey P; Whibley A; Stratton MR; Futreal PA; Teague J; Edkins S; Gecz J; Turner G; Raymond FL; Schwartz C; Stevenson RE; Undlien DE; Strømme P
Am J Hum Genet; 2008 Apr; 82(4):1003-10. PubMed ID: 18342287
[TBL] [Abstract][Full Text] [Related]
32. Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults.
Kavanaugh BC; Elacio J; Best CR; St Pierre DG; Pescosolido MF; Ouyang Q; Caruso P; Buch K; Biedermann J; Bradley RS; Liu JS; Jones RN; Morrow EM
medRxiv; 2023 Nov; ():. PubMed ID: 37987014
[TBL] [Abstract][Full Text] [Related]
33. Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome.
He H; Zhang H; Chen H; He F; Yin F; Stauber T; Zou X; Peng J
CNS Neurosci Ther; 2023 Dec; 29(12):4059-4069. PubMed ID: 37381736
[TBL] [Abstract][Full Text] [Related]
34. Complex Neurological Phenotype in Female Carriers of
Pescosolido MF; Kavanaugh BC; Pochet N; Schmidt M; Jerskey BA; Rogg JM; De Jager PL; Young-Pearse TL; Liu JS; Morrow EM
Mol Neuropsychiatry; 2019 Apr; 5(2):98-108. PubMed ID: 31192222
[TBL] [Abstract][Full Text] [Related]
35. Genetic disorders associated with postnatal microcephaly.
Seltzer LE; Paciorkowski AR
Am J Med Genet C Semin Med Genet; 2014 Jun; 166C(2):140-55. PubMed ID: 24839169
[TBL] [Abstract][Full Text] [Related]
36. Sodium-hydrogen exchanger 6 (NHE6) deficiency leads to hearing loss, via reduced endosomal signalling through the BDNF/Trk pathway.
Kucharava K; Brand Y; Albano G; Sekulic-Jablanovic M; Glutz A; Xian X; Herz J; Bodmer D; Fuster DG; Petkovic V
Sci Rep; 2020 Feb; 10(1):3609. PubMed ID: 32107410
[TBL] [Abstract][Full Text] [Related]
37. Donor Splice Site Variant in
Petraitytė G; Mikštienė V; Siavrienė E; Cimbalistienė L; Maldžienė Ž; Rančelis T; Vaitėnienė EM; Ambrozaitytė L; Dapkūnas J; Dzindzalieta R; Pranckevičienė E; Kučinskas V; Utkus A; Preikšaitienė E
Medicina (Kaunas); 2022 Feb; 58(3):. PubMed ID: 35334527
[TBL] [Abstract][Full Text] [Related]
38. Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.
Hussain SI; Muhammad N; Shah SUD; Fardous F; Khan SA; Khan N; Rehman AU; Siddique M; Wasan SA; Niaz R; Ullah H; Khan N; Muhammad N; Mirza MU; Wasif N; Khan S
BMC Neurol; 2023 Oct; 23(1):353. PubMed ID: 37794328
[TBL] [Abstract][Full Text] [Related]
39. Deletion of the sodium/hydrogen exchanger 6 causes low bone volume in adult mice.
Schnyder D; Albano G; Kucharczyk P; Dolder S; Siegrist M; Anderegg M; Pathare G; Hofstetter W; Baron R; Fuster DG
Bone; 2021 Dec; 153():116178. PubMed ID: 34508879
[TBL] [Abstract][Full Text] [Related]
40. Christianson syndrome in a patient with an interstitial Xq26.3 deletion.
Tzschach A; Ullmann R; Ahmed A; Martin T; Weber G; Decker-Schwering O; Pauly F; Shamdeen MG; Reith W; Oehl-Jaschkowitz B
Am J Med Genet A; 2011 Nov; 155A(11):2771-4. PubMed ID: 21932316
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
