226 related articles for article (PubMed ID: 33955715)
61. Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder.
Van Bergen NJ; Massey S; Stait T; Ellery M; Reljić B; Formosa LE; Quigley A; Dottori M; Thorburn D; Stroud DA; Christodoulou J
Neurobiol Dis; 2021 Jul; 155():105370. PubMed ID: 33905871
[TBL] [Abstract][Full Text] [Related]
62. A new cause of developmental and epileptic encephalopathy with continuous spike-and-wave during sleep: CDKL5 disorder.
Arican P; Gencpinar P; Olgac Dundar N
Neurocase; 2019; 25(1-2):59-61. PubMed ID: 31046567
[TBL] [Abstract][Full Text] [Related]
63. CDKL5 deficiency in forebrain glutamatergic neurons results in recurrent spontaneous seizures.
Wang HT; Zhu ZA; Li YY; Lou SS; Yang G; Feng X; Xu W; Huang ZL; Cheng X; Xiong ZQ
Epilepsia; 2021 Feb; 62(2):517-528. PubMed ID: 33400301
[TBL] [Abstract][Full Text] [Related]
64. Key clinical features to identify girls with CDKL5 mutations.
Bahi-Buisson N; Nectoux J; Rosas-Vargas H; Milh M; Boddaert N; Girard B; Cances C; Ville D; Afenjar A; Rio M; Héron D; N'guyen Morel MA; Arzimanoglou A; Philippe C; Jonveaux P; Chelly J; Bienvenu T
Brain; 2008 Oct; 131(Pt 10):2647-61. PubMed ID: 18790821
[TBL] [Abstract][Full Text] [Related]
65. Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping.
Neveling K; Mantere T; Vermeulen S; Oorsprong M; van Beek R; Kater-Baats E; Pauper M; van der Zande G; Smeets D; Weghuis DO; Stevens-Kroef MJPL; Hoischen A
Am J Hum Genet; 2021 Aug; 108(8):1423-1435. PubMed ID: 34237281
[TBL] [Abstract][Full Text] [Related]
66. Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.
Tan Y; Hou M; Ma S; Liu P; Xia S; Wang Y; Chen L; Chen Z
BMC Med Genet; 2018 Jun; 19(1):92. PubMed ID: 29866057
[TBL] [Abstract][Full Text] [Related]
67. Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.
Barseghyan H; Tang W; Wang RT; Almalvez M; Segura E; Bramble MS; Lipson A; Douine ED; Lee H; Délot EC; Nelson SF; Vilain E
Genome Med; 2017 Oct; 9(1):90. PubMed ID: 29070057
[TBL] [Abstract][Full Text] [Related]
68. A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder.
Tangarorang J; Leonard H; Epstein A; Downs J
Am J Med Genet A; 2019 Feb; 179(2):249-256. PubMed ID: 30561084
[TBL] [Abstract][Full Text] [Related]
69. nanotatoR: a tool for enhanced annotation of genomic structural variants.
Bhattacharya S; Barseghyan H; Délot EC; Vilain E
BMC Genomics; 2021 Jan; 22(1):10. PubMed ID: 33407088
[TBL] [Abstract][Full Text] [Related]
70. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
Boutry-Kryza N; Labalme A; Ville D; de Bellescize J; Touraine R; Prieur F; Dimassi S; Poulat AL; Till M; Rossi M; Bourel-Ponchel E; Delignières A; Le Moing AG; Rivier C; des Portes V; Edery P; Calender A; Sanlaville D; Lesca G
Eur J Med Genet; 2015 Feb; 58(2):51-8. PubMed ID: 25497044
[TBL] [Abstract][Full Text] [Related]
71. Analysis of chromosomal structural variations in patients with recurrent spontaneous abortion using optical genome mapping.
Rao H; Zhang H; Zou Y; Ma P; Huang T; Yuan H; Zhou J; Lu W; Li Q; Huang S; Liu Y; Yang B
Front Genet; 2023; 14():1248755. PubMed ID: 37732322
[No Abstract] [Full Text] [Related]
72. A new consensus for evaluating CDKL5/STK9-dependent signalling mechanisms.
Eyers PA
EMBO J; 2018 Dec; 37(24):. PubMed ID: 30377159
[TBL] [Abstract][Full Text] [Related]
73. The Lived Experience of Parents' Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child.
Demarest S; Marsh R; Treat L; Fisher MP; Dempsey A; Junaid M; Downs J; Leonard H; Benke T; Morris MA
J Child Neurol; 2022 May; 37(6):451-460. PubMed ID: 35196159
[TBL] [Abstract][Full Text] [Related]
74. AMPA Receptor Dysregulation and Therapeutic Interventions in a Mouse Model of CDKL5 Deficiency Disorder.
Yennawar M; White RS; Jensen FE
J Neurosci; 2019 Jun; 39(24):4814-4828. PubMed ID: 30952813
[TBL] [Abstract][Full Text] [Related]
75. Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder.
Lupori L; Sagona G; Fuchs C; Mazziotti R; Stefanov A; Putignano E; Napoli D; Strettoi E; Ciani E; Pizzorusso T
Hum Mol Genet; 2019 Sep; 28(17):2851-2861. PubMed ID: 31108505
[TBL] [Abstract][Full Text] [Related]
76. A GABA
Gennaccaro L; Fuchs C; Loi M; Roncacè V; Trazzi S; Ait-Bali Y; Galvani G; Berardi AC; Medici G; Tassinari M; Ren E; Rimondini R; Giustetto M; Aicardi G; Ciani E
Neurobiol Dis; 2021 Jun; 153():105304. PubMed ID: 33621640
[TBL] [Abstract][Full Text] [Related]
77. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
Scala E; Ariani F; Mari F; Caselli R; Pescucci C; Longo I; Meloni I; Giachino D; Bruttini M; Hayek G; Zappella M; Renieri A
J Med Genet; 2005 Feb; 42(2):103-7. PubMed ID: 15689447
[TBL] [Abstract][Full Text] [Related]
78. Expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical Rett syndrome.
Vitorino M; Cunha N; Conceição N; Cancela ML
Mol Biol Rep; 2018 Aug; 45(4):445-451. PubMed ID: 29752575
[TBL] [Abstract][Full Text] [Related]
79. Aminoglycoside drugs induce efficient read-through of
Fazzari M; Frasca A; Bifari F; Landsberger N
RNA Biol; 2019 Oct; 16(10):1414-1423. PubMed ID: 31232219
[TBL] [Abstract][Full Text] [Related]
80. Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).
Chen PF; Chen T; Forman TE; Swanson AC; O'Kelly B; Dwyer SA; Buttermore ED; Kleiman R; Js Carrington S; Lavery DJ; Swanson LC; Olson HE; Sahin M
Stem Cell Res; 2021 May; 53():102276. PubMed ID: 33714067
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]