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]