Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2004 1
2007 1
2008 1
2009 2
2010 2
2011 3
2012 5
2013 5
2014 11
2015 10
2016 17
2017 20
2018 19
2019 17
2020 19
2021 26
2022 30
2023 30
2024 36
2025 35
2026 30

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

282 results

Results by year

Filters applied: . Clear all
Page 1
Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles.
Domínguez-Carral J, Domínguez Cobo AM, Balsells S, Aguilar-Ros A, Chang CT, Ludlam WG, Yang K, Bernardi K, Chinigioli M, Salazar-Villacorta A, Di Pisa V, Lamagrande-Casanova N, González-Alguacil E, De la Casa-Fages B, Okumura A, Rodríguez J, Agarwal A, Muñoz-Chesta D, Reynoso-Osnayo C, Lin A, Tabarki B, Parvin J, Gallo AA, Forno A, Maass F, Montiel Blanco J, Nasif S, Jennions E, Ramón-Gómez JL, Verhelst H, Nieto Barceló JJ, Čokolić Petrović D, García Ruiz LV, van Riesen C, Rego Sousa P, Massaro Sanchez MDP, Khan HA, Hakami W, Friedman J, Espinoza-Quinteros I, Troncoso M, Garg D, Pauni M, Kurahashi H, Miranda-Herrero MC, Duat-Rodriguez A, Soliani L, Kurian MA, Schteinschnaider A, Srivastava S, Ebrahimi-Fakhari D, Martemyanov KA, Ortigoza-Escobar JD. Domínguez-Carral J, et al. Ann Neurol. 2026 Jul;100(1):154-170. doi: 10.1002/ana.78213. Epub 2026 Apr 17. Ann Neurol. 2026. PMID: 41992961 Free PMC article.
OBJECTIVE: Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. ...We present the first longitudinal natural history study of GNAO1-related disorders (GNAO1-RD) to delineate phenotypic trajectories. METH …
OBJECTIVE: Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. ...We present …
Caregivers' Perspectives and Decision-Making on Deep Brain Stimulation in GNAO1-Related Disorders.
Domínguez-Carral J, Reinhard C, Yoo J, Soliani L, Cif L, Ortigoza-Escobar JD. Domínguez-Carral J, et al. Neuromodulation. 2026 Jul;29(5):824-832. doi: 10.1016/j.neurom.2025.05.005. Epub 2025 Jun 22. Neuromodulation. 2026. PMID: 40544367
OBJECTIVES: Deep brain stimulation (DBS) is an advanced treatment for individuals with GNAO1-related disorders (GNAO1-RD), which are characterized by severe movement abnormalities such as status dystonicus and dyskinetic crises. ...CONCLUSIONS: DBS is perceived by c …
OBJECTIVES: Deep brain stimulation (DBS) is an advanced treatment for individuals with GNAO1-related disorders (GNAO1-RD), whi …
Gnao1 acts as a gatekeeper to alleviate neuropathic pain by silencing pro-nociceptive signaling cascades.
Cai J, Li H, Chen L, Luo L, Wu X, Yuan M, Han M, Wen S, Zhu C, Gu Y. Cai J, et al. J Headache Pain. 2026 Jun 23. doi: 10.1186/s10194-026-02436-6. Online ahead of print. J Headache Pain. 2026. PMID: 42337441 Free article.
In vitro studies used BV2 microglia and primary DRG neurons with lentiviral Gnao1 overexpression and LPS or db-cAMP stimulation. RESULTS: Spatial transcriptomics revealed that Gnao1 is enriched in the spinal dorsal horn (SDH) and significantly downregulated after SN …
In vitro studies used BV2 microglia and primary DRG neurons with lentiviral Gnao1 overexpression and LPS or db-cAMP stimulation. RESU …
Exome sequencing of pashtun familial epilepsy in Pakistan reveals novel variants in LAMA5, KCNQ2 and GNAO1.
Ali Q, Azam S, Javed J, Zaheer M, Ullah S, Iqbal A, Khan I, Rehman SU. Ali Q, et al. Mol Biol Rep. 2026 Jun 18;53(1):938. doi: 10.1007/s11033-026-12121-1. Mol Biol Rep. 2026. PMID: 42313205
In family EP-72, a heterozygous variant of uncertain significance in GNAO1 (c.943C > A; p.Pro315Thr) was detected in a patient presenting with generalized tonic-clonic seizures without developmental delay. ...In silico analyses predicted deleterious effects on protein s …
In family EP-72, a heterozygous variant of uncertain significance in GNAO1 (c.943C > A; p.Pro315Thr) was detected in a patient pre …
G-protein regulatory network governs receptor internalization dynamics.
Rowe JB, Pandey S, Mayer RA, Ludlam WG, Drube J, Inoue A, Hoffmann C, Martemyanov KA. Rowe JB, et al. Proc Natl Acad Sci U S A. 2026 Jun 16;123(24):e2524866123. doi: 10.1073/pnas.2524866123. Epub 2026 Jun 9. Proc Natl Acad Sci U S A. 2026. PMID: 42263130 Free PMC article.
Beyond GH stimulation tests: genetic heterogeneity and treatment response in children with diagnosed GH deficiency.
Plachy L, Dusatkova P, Kavciak L, Amaratunga SA, Slavenko M, Drabova J, Maratova K, Neuman V, Obermannova B, Kolouskova S, Snajderova M, Sumnik Z, Lebl J, Pruhova S. Plachy L, et al. J Endocr Soc. 2026 May 7;10(6):bvag106. doi: 10.1210/jendso/bvag106. eCollection 2026 Jun. J Endocr Soc. 2026. PMID: 42181673 Free PMC article.
Only 13 of 39 (33%) findings confirmed GHD (genes CHD7, GH1, GHSR, GLI2, GNAO1, KMT2D, OTX2 [3], POU1F1, PROP1, SALL4, TBX3). The remaining 26 of 39 (67%) revealed alternative etiologies of growth failure: RASopathies (13/39; genes NF1 [2], PTPN11 [7], RAF1, SOS1 [2], SPRE …
Only 13 of 39 (33%) findings confirmed GHD (genes CHD7, GH1, GHSR, GLI2, GNAO1, KMT2D, OTX2 [3], POU1F1, PROP1, SALL4, TBX3). The rem …
Conditional Modeling of GNAO1 Disorder Dissociates Circuit Specific Contributions to Pathology and Rationalizes Ameliorative Strategies.
Brunori G, Zucca S, Lankford CK, Wang YZ, Franco M, Alekseeva NA, Ahmedova S, Van HM, Savas JN, Martemyanov KA. Brunori G, et al. Mov Disord. 2026 Jun;41(6):1528-1541. doi: 10.1002/mds.70276. Epub 2026 Mar 28. Mov Disord. 2026. PMID: 41902602 Free PMC article.
METHODS: In this study, we introduce a unique approach to modeling GNAO1 disorder, and neurodevelopmental disorders in general, by creating a conditional knock-in mouse model of a severe dominant negative GNAO1 variant G203R that allows circuit-specific induction of …
METHODS: In this study, we introduce a unique approach to modeling GNAO1 disorder, and neurodevelopmental disorders in general, by cr …
282 results