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 *

155 related articles for article (PubMed ID: 28628939)

  • 1. Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.
    Schorling DC; Dietel T; Evers C; Hinderhofer K; Korinthenberg R; Ezzo D; Bönnemann CG; Kirschner J
    Neuropediatrics; 2017 Oct; 48(5):371-377. PubMed ID: 28628939
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature.
    Ullman NL; Smith-Hicks CL; Desai S; Stafstrom CE
    Pediatr Neurol; 2018 Aug; 85():76-78. PubMed ID: 29807643
    [No Abstract]   [Full Text] [Related]  

  • 7. 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]  

  • 8. [GNAO1: a new gene to consider on early-onset childhood dystonia].
    Marecos C; Duarte S; Alonso I; Calado E; Moreira A
    Rev Neurol; 2018 May; 66(9):321-322. PubMed ID: 29696620
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Visual Function in Children with GNAO1-Related Encephalopathy.
    Gambardella ML; Pede E; Orazi L; Leone S; Quintiliani M; Amorelli GM; Petrianni M; Galanti M; Amore F; Musto E; Perulli M; Contaldo I; Veredice C; Mercuri EM; Battaglia DI; Ricci D
    Genes (Basel); 2023 Feb; 14(3):. PubMed ID: 36980817
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Not all
    Sadleir LG; Mountier EI; Gill D; Davis S; Joshi C; DeVile C; Kurian MA; ; Mandelstam S; Wirrell E; Nickels KC; Murali HR; Carvill G; Myers CT; Mefford HC; Scheffer IE
    Neurology; 2017 Sep; 89(10):1035-1042. PubMed ID: 28794249
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 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. 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]  

  • 17. Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.
    Nakamura Y; Togawa Y; Okuno Y; Muramatsu H; Nakabayashi K; Kuroki Y; Ieda D; Hori I; Negishi Y; Togawa T; Hattori A; Kojima S; Saitoh S
    Brain Dev; 2018 Feb; 40(2):134-139. PubMed ID: 28893434
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A wide clinical phenotype spectrum in patients with ATP1A2 mutations.
    Al-Bulushi B; Al-Hashem A; Tabarki B
    J Child Neurol; 2014 Feb; 29(2):265-8. PubMed ID: 24097848
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes.
    Feng H; Larrivee CL; Demireva EY; Xie H; Leipprandt JR; Neubig RR
    PLoS One; 2019; 14(1):e0211066. PubMed ID: 30682176
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.
    Vasconcellos LF; Soares VP; de Ricchezza LL
    Tremor Other Hyperkinet Mov (N Y); 2023; 13():11. PubMed ID: 37034444
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.