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 *

154 related articles for article (PubMed ID: 36719128)

  • 1. [Encephalopathy GNAO1].
    Bobylova MY; Volkov IV; Gumennik EV; Rachmanina OA; Abramov MO; Volkova OK; Bayborina TS; Petrukhin AS
    Zh Nevrol Psikhiatr Im S S Korsakova; 2023; 123(1):122-130. PubMed ID: 36719128
    [TBL] [Abstract][Full Text] [Related]  

  • 2. GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype.
    Arya R; Spaeth C; Gilbert DL; Leach JL; Holland KD
    Epileptic Disord; 2017 Mar; 19(1):67-75. PubMed ID: 28202424
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.
    Koy A; Cirak S; Gonzalez V; Becker K; Roujeau T; Milesi C; Baleine J; Cambonie G; Boularan A; Greco F; Perrigault PF; Cances C; Dorison N; Doummar D; Roubertie A; Beroud C; Körber F; Stüve B; Waltz S; Mignot C; Nava C; Maarouf M; Coubes P; Cif L
    J Neurol Sci; 2018 Aug; 391():31-39. PubMed ID: 30103967
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation.
    Silachev D; Koval A; Savitsky M; Padmasola G; Quairiaux C; Thorel F; Katanaev VL
    Acta Neuropathol Commun; 2022 Jan; 10(1):9. PubMed ID: 35090564
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
    Kelly M; Park M; Mihalek I; Rochtus A; Gramm M; Pérez-Palma E; Axeen ET; Hung CY; Olson H; Swanson L; Anselm I; Briere LC; High FA; Sweetser DA; ; Kayani S; Snyder M; Calvert S; Scheffer IE; Yang E; Waugh JL; Lal D; Bodamer O; Poduri A
    Epilepsia; 2019 Mar; 60(3):406-418. PubMed ID: 30682224
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
    Gerald B; Ramsey K; Belnap N; Szelinger S; Siniard AL; Balak C; Russell M; Richholt R; De Both M; Claasen AM; Schrauwen I; Huentelman MJ; Craig DW; Rangasamy S; Narayanan V
    Semin Pediatr Neurol; 2018 Jul; 26():28-32. PubMed ID: 29961512
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.
    Schirinzi T; Garone G; Travaglini L; Vasco G; Galosi S; Rios L; Castiglioni C; Barassi C; Battaglia D; Gambardella ML; Cantonetti L; Graziola F; Marras CE; Castelli E; Bertini E; Capuano A; Leuzzi V
    Parkinsonism Relat Disord; 2019 Apr; 61():19-25. PubMed ID: 30642806
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis.
    Kim SY; Shim Y; Ko YJ; Park S; Jang SS; Lim BC; Kim KJ; Chae JH
    Orphanet J Rare Dis; 2020 Dec; 15(1):343. PubMed ID: 33298085
    [TBL] [Abstract][Full Text] [Related]  

  • 9. AAV9-Mediated Intrastriatal Delivery of
    Roy AJ; Leipprandt JR; Patterson JR; Stoll AC; Kemp CJ; Oula ZD; Mola T; Batista AR; Sortwell CE; Sena-Esteves M; Neubig RR
    J Pharmacol Exp Ther; 2024 Jul; 390(2):250-259. PubMed ID: 38866563
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing
    Larasati YA; Solis GP; Koval A; Griffiths ST; Berentsen R; Aukrust I; Lesca G; Chatron N; Ville D; Korff CM; Katanaev VL
    Cells; 2023 Oct; 12(20):. PubMed ID: 37887313
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
    Nakamura K; Kodera H; Akita T; Shiina M; Kato M; Hoshino H; Terashima H; Osaka H; Nakamura S; Tohyama J; Kumada T; Furukawa T; Iwata S; Shiihara T; Kubota M; Miyatake S; Koshimizu E; Nishiyama K; Nakashima M; Tsurusaki Y; Miyake N; Hayasaka K; Ogata K; Fukuda A; Matsumoto N; Saitsu H
    Am J Hum Genet; 2013 Sep; 93(3):496-505. PubMed ID: 23993195
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Movement disorder in
    Feng H; Sjögren B; Karaj B; Shaw V; Gezer A; Neubig RR
    Neurology; 2017 Aug; 89(8):762-770. PubMed ID: 28747448
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
    Saitsu H; Fukai R; Ben-Zeev B; Sakai Y; Mimaki M; Okamoto N; Suzuki Y; Monden Y; Saito H; Tziperman B; Torio M; Akamine S; Takahashi N; Osaka H; Yamagata T; Nakamura K; Tsurusaki Y; Nakashima M; Miyake N; Shiina M; Ogata K; Matsumoto N
    Eur J Hum Genet; 2016 Jan; 24(1):129-34. PubMed ID: 25966631
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of
    Solis GP; Kozhanova TV; Koval A; Zhilina SS; Mescheryakova TI; Abramov AA; Ishmuratov EV; Bolshakova ES; Osipova KV; Ayvazyan SO; Lebon S; Kanivets IV; Pyankov DV; Troccaz S; Silachev DN; Zavadenko NN; Prityko AG; Katanaev VL
    Cells; 2021 Oct; 10(10):. PubMed ID: 34685729
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Highlighting the Dystonic Phenotype Related to GNAO1.
    Wirth T; Garone G; Kurian MA; Piton A; Millan F; Telegrafi A; Drouot N; Rudolf G; Chelly J; Marks W; Burglen L; Demailly D; Coubes P; Castro-Jimenez M; Joriot S; Ghoumid J; Belin J; Faucheux JM; Blumkin L; Hull M; Parnes M; Ravelli C; Poulen G; Calmels N; Nemeth AH; Smith M; Barnicoat A; Ewenczyk C; Méneret A; Roze E; Keren B; Mignot C; Beroud C; Acosta F; Nowak C; Wilson WG; Steel D; Capuano A; Vidailhet M; Lin JP; Tranchant C; Cif L; Doummar D; Anheim M
    Mov Disord; 2022 Jul; 37(7):1547-1554. PubMed ID: 35722775
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)?
    Kehrl JM; Sahaya K; Dalton HM; Charbeneau RA; Kohut KT; Gilbert K; Pelz MC; Parent J; Neubig RR
    Mamm Genome; 2014 Jun; 25(5-6):202-10. PubMed ID: 24700286
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Results of the First GNAO1-Related Neurodevelopmental Disorders Caregiver Survey.
    Axeen E; Bell E; Robichaux Viehoever A; Schreiber JM; Sidiropoulos C; Goodkin HP
    Pediatr Neurol; 2021 Aug; 121():28-32. PubMed ID: 34139551
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.
    Menke LA; Engelen M; Alders M; Odekerken VJ; Baas F; Cobben JM
    J Child Neurol; 2016 Dec; 31(14):1598-1601. PubMed ID: 27625011
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotypes in children with
    Li Y; Chen H; Li L; Cao X; Ding X; Chen L; Cao D
    Front Pediatr; 2023; 11():1086970. PubMed ID: 37705601
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Effective Viral Delivery of Genetic Constructs to Neuronal Culture for Modeling and Gene Therapy of GNAO1 Encephalopathy].
    Lunev EA; Shmidt AA; Vassilieva SG; Savchenko IM; Loginov VA; Marina VI; Egorova TV; Bardina MV
    Mol Biol (Mosk); 2022; 56(4):604-618. PubMed ID: 35964317
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.