BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

277 related articles for article (PubMed ID: 33298085)

  • 1. 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]  

  • 2. 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]  

  • 3. Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.
    Dzinovic I; Škorvánek M; Necpál J; Boesch S; Švantnerová J; Wagner M; Havránková P; Pavelekova P; Haň V; Janzarik WG; Berweck S; Diebold I; Kuster A; Jech R; Winkelmann J; Zech M
    Parkinsonism Relat Disord; 2021 Sep; 90():73-78. PubMed ID: 34399161
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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. Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.
    Ananth AL; Robichaux-Viehoever A; Kim YM; Hanson-Kahn A; Cox R; Enns GM; Strober J; Willing M; Schlaggar BL; Wu YW; Bernstein JA
    Pediatr Neurol; 2016 Jun; 59():81-4. PubMed ID: 27068059
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features.
    Okumura A; Maruyama K; Shibata M; Kurahashi H; Ishii A; Numoto S; Hirose S; Kawai T; Iso M; Kataoka S; Okuno Y; Muramatsu H; Kojima S
    Brain Dev; 2018 Nov; 40(10):926-930. PubMed ID: 29935962
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
    Pérez-Dueñas B; Gorman K; Marcé-Grau A; Ortigoza-Escobar JD; Macaya A; Danti FR; Barwick K; Papandreou A; Ng J; Meyer E; Mohammad SS; Smith M; Muntoni F; Munot P; Uusimaa J; Vieira P; Sheridan E; Guerrini R; Cobben J; Yilmaz S; De Grandis E; Dale RC; Pons R; Peall KJ; Leuzzi V; Kurian MA
    Mov Disord; 2022 Nov; 37(11):2197-2209. PubMed ID: 36054588
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotypes of
    Yang X; Niu X; Yang Y; Cheng M; Zhang J; Chen J; Yang Z; Zhang Y
    Front Neurol; 2021; 12():662162. PubMed ID: 34122306
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.
    Kulkarni N; Tang S; Bhardwaj R; Bernes S; Grebe TA
    J Child Neurol; 2016 Feb; 31(2):211-4. PubMed ID: 26060304
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mice with
    Larrivee CL; Feng H; Quinn JA; Shaw VS; Leipprandt JR; Demireva EY; Xie H; Neubig RR
    J Pharmacol Exp Ther; 2020 Apr; 373(1):24-33. PubMed ID: 31907305
    [TBL] [Abstract][Full Text] [Related]  

  • 17. GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.
    Marcé-Grau A; Dalton J; López-Pisón J; García-Jiménez MC; Monge-Galindo L; Cuenca-León E; Giraldo J; Macaya A
    Orphanet J Rare Dis; 2016 Apr; 11():38. PubMed ID: 27072799
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. GNAO1 Mutations Affecting the N-Terminal α-Helix of Gαo Lead to Parkinsonism.
    Solis GP; Larasati YA; Thiel M; Koval A; Koy A; Katanaev VL
    Mov Disord; 2024 Mar; 39(3):601-606. PubMed ID: 38358016
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 14.