263 related articles for article (PubMed ID: 34325981)
1. The Neurological Manifestations of Phelan-McDermid Syndrome.
Frank Y
Pediatr Neurol; 2021 Sep; 122():59-64. PubMed ID: 34325981
[TBL] [Abstract][Full Text] [Related]
2. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.
Samogy-Costa CI; Varella-Branco E; Monfardini F; Ferraz H; Fock RA; Barbosa RHA; Pessoa ALS; Perez ABA; Lourenço N; Vibranovski M; Krepischi A; Rosenberg C; Passos-Bueno MR
J Neurodev Disord; 2019 Jul; 11(1):13. PubMed ID: 31319798
[TBL] [Abstract][Full Text] [Related]
3. Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by
De Rubeis S; Siper PM; Durkin A; Weissman J; Muratet F; Halpern D; Trelles MDP; Frank Y; Lozano R; Wang AT; Holder JL; Betancur C; Buxbaum JD; Kolevzon A
Mol Autism; 2018; 9():31. PubMed ID: 29719671
[TBL] [Abstract][Full Text] [Related]
4. A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.
Xu N; Lv H; Yang T; Du X; Sun Y; Xiao B; Fan Y; Luo X; Zhan Y; Wang L; Li F; Yu Y
Orphanet J Rare Dis; 2020 Nov; 15(1):335. PubMed ID: 33256793
[TBL] [Abstract][Full Text] [Related]
5. Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.
Costales JL; Kolevzon A
Neurotherapeutics; 2015 Jul; 12(3):620-30. PubMed ID: 25894671
[TBL] [Abstract][Full Text] [Related]
6. Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.
Harony-Nicolas H; De Rubeis S; Kolevzon A; Buxbaum JD
J Child Neurol; 2015 Dec; 30(14):1861-70. PubMed ID: 26350728
[TBL] [Abstract][Full Text] [Related]
7. Gait Abnormalities in Children with Phelan-McDermid Syndrome.
Frank Y; Levy T; Lozano R; Friedman K; Underwood S; Kostic A; Walker H; Kolevzon A
J Child Neurol; 2023 Dec; 38(13-14):665-671. PubMed ID: 37849292
[No Abstract] [Full Text] [Related]
8. Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.
Oberman LM; Boccuto L; Cascio L; Sarasua S; Kaufmann WE
Orphanet J Rare Dis; 2015 Aug; 10():105. PubMed ID: 26306707
[TBL] [Abstract][Full Text] [Related]
9. Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.
Schön M; Lapunzina P; Nevado J; Mattina T; Gunnarsson C; Hadzsiev K; Verpelli C; Bourgeron T; Jesse S; van Ravenswaaij-Arts CMA; ; Hennekam RC
Eur J Med Genet; 2023 Jul; 66(7):104754. PubMed ID: 37003575
[TBL] [Abstract][Full Text] [Related]
10. Psychiatric illness and regression in individuals with Phelan-McDermid syndrome.
Kohlenberg TM; Trelles MP; McLarney B; Betancur C; Thurm A; Kolevzon A
J Neurodev Disord; 2020 Feb; 12(1):7. PubMed ID: 32050889
[TBL] [Abstract][Full Text] [Related]
11. Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.
Vitrac A; Leblond CS; Rolland T; Cliquet F; Mathieu A; Maruani A; Delorme R; Schön M; Grabrucker AM; van Ravenswaaij-Arts C; Phelan K; Tabet AC; Bourgeron T
Eur J Med Genet; 2023 May; 66(5):104732. PubMed ID: 36822569
[TBL] [Abstract][Full Text] [Related]
12. Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.
Ricciardello A; Tomaiuolo P; Persico AM
Am J Med Genet A; 2021 Jul; 185(7):2211-2233. PubMed ID: 33949759
[TBL] [Abstract][Full Text] [Related]
13. Phelan McDermid Syndrome: Multiple Sclerosis as a Rare but Treatable Cause for Regression-A Case Report.
Jesse S; Delling JP; Schön M; Boeckers TM; Ludolph A; Senel M
Int J Mol Sci; 2021 Feb; 22(5):. PubMed ID: 33669083
[TBL] [Abstract][Full Text] [Related]
14. Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism.
Breen MS; Browne A; Hoffman GE; Stathopoulos S; Brennand K; Buxbaum JD; Drapeau E
Mol Autism; 2020 Jun; 11(1):53. PubMed ID: 32560742
[TBL] [Abstract][Full Text] [Related]
15. Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.
Landlust AM; Koza SA; Carbin M; Walinga M; Robert S; Cooke J; Vyshka K; ; van Balkom IDC; van Ravenswaaij-Arts C
Eur J Med Genet; 2023 Jul; 66(7):104771. PubMed ID: 37120079
[TBL] [Abstract][Full Text] [Related]
16. Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.
Kolevzon A; Delaby E; Berry-Kravis E; Buxbaum JD; Betancur C
Mol Autism; 2019; 10():50. PubMed ID: 31879555
[TBL] [Abstract][Full Text] [Related]
17. Increased rates of cerebral protein synthesis in Shank3 knockout mice: Implications for a link between synaptic protein deficit and dysregulated protein synthesis in autism spectrum disorder/intellectual disability.
Torossian A; Saré RM; Loutaev I; Smith CB
Neurobiol Dis; 2021 Jan; 148():105213. PubMed ID: 33276083
[TBL] [Abstract][Full Text] [Related]
18. SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.
Shcheglovitov A; Shcheglovitova O; Yazawa M; Portmann T; Shu R; Sebastiano V; Krawisz A; Froehlich W; Bernstein JA; Hallmayer JF; Dolmetsch RE
Nature; 2013 Nov; 503(7475):267-71. PubMed ID: 24132240
[TBL] [Abstract][Full Text] [Related]
19. Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the
Drapeau E; Riad M; Kajiwara Y; Buxbaum JD
eNeuro; 2018; 5(3):. PubMed ID: 30302388
[TBL] [Abstract][Full Text] [Related]
20. Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat.
Harony-Nicolas H; Kay M; du Hoffmann J; Klein ME; Bozdagi-Gunal O; Riad M; Daskalakis NP; Sonar S; Castillo PE; Hof PR; Shapiro ML; Baxter MG; Wagner S; Buxbaum JD
Elife; 2017 Jan; 6():. PubMed ID: 28139198
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]