350 related articles for article (PubMed ID: 36054588)
1. 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]
2. 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]
3. Emerging Monogenic Complex Hyperkinetic Disorders.
Carecchio M; Mencacci NE
Curr Neurol Neurosci Rep; 2017 Oct; 17(12):97. PubMed ID: 29086067
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing in paediatric patients with movement disorders.
Kwong AK; Tsang MH; Fung JL; Mak CC; Chan KL; Rodenburg RJT; Lek M; Huang S; Pajusalu S; Yau MM; Tsoi C; Fung S; Liu KT; Ma CK; Wong S; Yau EK; Tai SM; Fung EL; Wu NS; Tsung LY; Smeitink J; Chung BH; Fung CW
Orphanet J Rare Dis; 2021 Jan; 16(1):32. PubMed ID: 33446253
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Deep brain stimulation effect in genetic dyskinetic cerebral palsy: The case of ADCY5- related disease.
Cif L; Demailly D; Gehin C; Chan Seng E; Dornadic M; Huby S; Poulen G; Roubertie A; Villessot M; Roujeau T; Coubes P
Mol Genet Metab; 2023 Jan; 138(1):106970. PubMed ID: 36610259
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.
Dy ME; Chang FC; Jesus SD; Anselm I; Mahant N; Zeilman P; Rodan LH; Foote KD; Tan WH; Eskandar E; Sharma N; Okun MS; Fung VS; Waugh JL
J Child Neurol; 2016 Jul; 31(8):1027-35. PubMed ID: 27052971
[TBL] [Abstract][Full Text] [Related]
10. Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases.
Garofalo M; Beudel M; Dijk JM; Bonouvrié LA; Buizer AI; Geytenbeek J; Prins RHN; Schuurman PR; van de Pol LA
Neuropediatrics; 2023 Feb; 54(1):44-52. PubMed ID: 36223877
[TBL] [Abstract][Full Text] [Related]
11. An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.
Ferrini A; Steel D; Barwick K; Kurian MA
Mov Disord; 2021 May; 36(5):1104-1114. PubMed ID: 33934385
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.
Cellini E; Vignoli A; Pisano T; Falchi M; Molinaro A; Accorsi P; Bontacchio A; Pinelli L; Giordano L; Guerrini R;
Dev Med Child Neurol; 2016 Jan; 58(1):93-7. PubMed ID: 26344814
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Chapter 33: the history of movement disorders.
Lanska DJ
Handb Clin Neurol; 2010; 95():501-46. PubMed ID: 19892136
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Phenotypic insights into ADCY5-associated disease.
Chang FC; Westenberger A; Dale RC; Smith M; Pall HS; Perez-Dueñas B; Grattan-Smith P; Ouvrier RA; Mahant N; Hanna BC; Hunter M; Lawson JA; Max C; Sachdev R; Meyer E; Crimmins D; Pryor D; Morris JG; Münchau A; Grozeva D; Carss KJ; Raymond L; Kurian MA; Klein C; Fung VS
Mov Disord; 2016 Jul; 31(7):1033-40. PubMed ID: 27061943
[TBL] [Abstract][Full Text] [Related]
18. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.
Dale RC; Grattan-Smith P; Nicholson M; Peters GB
Dev Med Child Neurol; 2012 Jul; 54(7):618-23. PubMed ID: 22515636
[TBL] [Abstract][Full Text] [Related]
19. GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.
Novelli M; Galosi S; Zorzi G; Martinelli S; Capuano A; Nardecchia F; Granata T; Pollini L; Di Rocco M; Marras CE; Nardocci N; Leuzzi V
Parkinsonism Relat Disord; 2023 Jun; 111():105405. PubMed ID: 37142469
[TBL] [Abstract][Full Text] [Related]
20. Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
Montaut S; Tranchant C; Drouot N; Rudolf G; Guissart C; Tarabeux J; Stemmelen T; Velt A; Fourrage C; Nitschké P; Gerard B; Mandel JL; Koenig M; Chelly J; Anheim M;
JAMA Neurol; 2018 Oct; 75(10):1234-1245. PubMed ID: 29913018
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
