These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 33585817)

  • 1. Gain-of-function
    Absalom NL; Liao VWY; Kothur K; Indurthi DC; Bennetts B; Troedson C; Mohammad SS; Gupta S; McGregor IS; Bowen MT; Lederer D; Mary S; De Waele L; Jansen K; Gill D; Kurian MA; McTague A; Møller RS; Ahring PK; Dale RC; Chebib M
    Brain Commun; 2020; 2(2):fcaa162. PubMed ID: 33585817
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
    Lin SXN; Ahring PK; Keramidas A; Liao VWY; Møller RS; Chebib M; Absalom NL
    Brain; 2024 Jan; 147(1):224-239. PubMed ID: 37647766
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
    Absalom NL; Liao VWY; Johannesen KMH; Gardella E; Jacobs J; Lesca G; Gokce-Samar Z; Arzimanoglou A; Zeidler S; Striano P; Meyer P; Benkel-Herrenbrueck I; Mero IL; Rummel J; Chebib M; Møller RS; Ahring PK
    Nat Commun; 2022 Apr; 13(1):1822. PubMed ID: 35383156
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
    Janve VS; Hernandez CC; Verdier KM; Hu N; Macdonald RL
    Ann Neurol; 2016 May; 79(5):806-825. PubMed ID: 26950270
    [TBL] [Abstract][Full Text] [Related]  

  • 5. GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
    Papandreou A; McTague A; Trump N; Ambegaonkar G; Ngoh A; Meyer E; Scott RH; Kurian MA
    Dev Med Child Neurol; 2016 Apr; 58(4):416-20. PubMed ID: 26645412
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
    Møller RS; Wuttke TV; Helbig I; Marini C; Johannesen KM; Brilstra EH; Vaher U; Borggraefe I; Talvik I; Talvik T; Kluger G; Francois LL; Lesca G; de Bellescize J; Blichfeldt S; Chatron N; Holert N; Jacobs J; Swinkels M; Betzler C; Syrbe S; Nikanorova M; Myers CT; Larsen LH; Vejzovic S; Pendziwiat M; von Spiczak S; Hopkins S; Dubbs H; Mang Y; Mukhin K; Holthausen H; van Gassen KL; Dahl HA; Tommerup N; Mefford HC; Rubboli G; Guerrini R; Lemke JR; Lerche H; Muhle H; Maljevic S
    Neurology; 2017 Jan; 88(5):483-492. PubMed ID: 28053010
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Gabapentin increases a tonic inhibitory conductance in hippocampal pyramidal neurons.
    Cheng VY; Bonin RP; Chiu MW; Newell JG; MacDonald JF; Orser BA
    Anesthesiology; 2006 Aug; 105(2):325-33. PubMed ID: 16871066
    [TBL] [Abstract][Full Text] [Related]  

  • 8. GABA
    Nwosu GI; Shen W; Zavalin K; Poliquin S; Randhave K; Flamm C; Biven M; Langer K; Kang JQ
    Int J Mol Sci; 2023 May; 24(9):. PubMed ID: 37176165
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
    Ahring PK; Liao VWY; Gardella E; Johannesen KM; Krey I; Selmer KK; Stadheim BF; Davis H; Peinhardt C; Koko M; Coorg RK; Syrbe S; Bertsche A; Santiago-Sim T; Diemer T; Fenger CD; Platzer K; Eichler EE; Lerche H; Lemke JR; Chebib M; Møller RS
    Brain; 2022 May; 145(4):1299-1309. PubMed ID: 34633442
    [TBL] [Abstract][Full Text] [Related]  

  • 10. γ-Aminobutyric acid transporter and GABA
    Shen W; Nwosu G; Honer M; Clasadonte J; Schmalzbauer S; Biven M; Langer K; Flamm C; Poliquin S; Mermer F; Dedeurwaerdere S; Hernandez MC; Kang JQ
    Brain Commun; 2024; 6(2):fcae110. PubMed ID: 38650830
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
    Platzer K; Sticht H; Bupp C; Ganapathi M; Pereira EM; Le Guyader G; Bilan F; Henderson LB; Lemke JR; Taschenberger H; Brose N; Abou Jamra R; Wojcik SM
    Ann Neurol; 2022 Dec; 92(6):958-973. PubMed ID: 36073542
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular and clinical descriptions of patients with GABA
    Maillard PY; Baer S; Schaefer É; Desnous B; Villeneuve N; Lépine A; Fabre A; Lacoste C; El Chehadeh S; Piton A; Porter LF; Perriard C; Wardé MA; Spitz MA; Laugel V; Lesca G; Putoux A; Ville D; Mignot C; Héron D; Nabbout R; Barcia G; Rio M; Roubertie A; Meyer P; Paquis-Flucklinger V; Patat O; Lefranc J; Gerard M; ; de Bellescize J; Villard L; De Saint Martin A; Milh M
    Epilepsia; 2022 Oct; 63(10):2519-2533. PubMed ID: 35718920
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Heterozygous GABA
    Qu S; Jackson LG; Zhou C; Shen D; Shen W; Nwosu G; Howe R; Catron MA; Flamm C; Biven M; Kang JQ; Macdonald RL
    Epilepsia; 2023 Apr; 64(4):1061-1073. PubMed ID: 36495145
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations.
    Khair AM; Salvucci AE
    Oman Med J; 2021 Mar; 36(2):e240. PubMed ID: 33854792
    [No Abstract]   [Full Text] [Related]  

  • 15. Epiberberine induced p53/p21-dependent G2/M cell cycle arrest and cell apoptosis in gastric cancer cells by activating γ-aminobutyric acid receptor- β3.
    Li M; Yang J; Li J; Zhou Y; Li X; Ma Z; Li X; Ma H; Ye X
    Phytomedicine; 2024 Jan; 123():155198. PubMed ID: 38006806
    [TBL] [Abstract][Full Text] [Related]  

  • 16. GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man.
    DeLorey TM; Olsen RW
    Epilepsy Res; 1999 Sep; 36(2-3):123-32. PubMed ID: 10515160
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report.
    Zhang Y; Lian Y; Xie N
    Medicine (Baltimore); 2017 Dec; 96(50):e9273. PubMed ID: 29390378
    [TBL] [Abstract][Full Text] [Related]  

  • 18. GABA
    Qu S; Catron M; Zhou C; Janve V; Shen W; Howe RK; Macdonald RL
    Brain Commun; 2020; 2(1):fcaa028. PubMed ID: 32467926
    [TBL] [Abstract][Full Text] [Related]  

  • 19. De novo GABRG2 mutations associated with epileptic encephalopathies.
    Shen D; Hernandez CC; Shen W; Hu N; Poduri A; Shiedley B; Rotenberg A; Datta AN; Leiz S; Patzer S; Boor R; Ramsey K; Goldberg E; Helbig I; Ortiz-Gonzalez XR; Lemke JR; Marsh ED; Macdonald RL
    Brain; 2017 Jan; 140(1):49-67. PubMed ID: 27864268
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Antiepileptic action induced by a combination of vigabatrin and tiagabine.
    Fueta Y; Kunugita N; Schwarz W
    Neuroscience; 2005; 132(2):335-45. PubMed ID: 15802187
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.