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

Results by year

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

Year Number of Results
2003 1
2004 2
2006 1
2008 2
2009 1
2011 2
2012 1
2023 2
2024 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

14 results

Results by year

Filters applied: . Clear all
Page 1
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. Schlüter A, et al. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B; Study Group of GNAO1 patients from Spain. Lasa-Aranzasti A, et al. Mov Disord. 2024 Sep;39(9):1578-1591. doi: 10.1002/mds.29881. Epub 2024 Jun 16. Mov Disord. 2024. PMID: 38881224
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.
Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart J, Čokolić Petrović D, Espinoza I, Ortigoza-Escobar JD, Martemyanov KA; GNAO1-Study Group. Domínguez-Carral J, et al. Ann Neurol. 2023 Nov;94(5):987-1004. doi: 10.1002/ana.26758. Epub 2023 Aug 31. Ann Neurol. 2023. PMID: 37548038 Free PMC article.
[Holt-Oram syndrome].
Cáceres Marzal C, Galán Gómez E, Campo Sampedro FM, Cardesa García JJ. Cáceres Marzal C, et al. An Pediatr (Barc). 2004 Jan;60(1):91-2. doi: 10.1016/s1695-4033(04)78225-9. An Pediatr (Barc). 2004. PMID: 14718140 Free article. Spanish. No abstract available.
[Zellweger syndrome. Reports on two new cases].
Cáceres-Marzal C, Vaquerizo-Madrid J, Girós M, Ruiz F, Roels F. Cáceres-Marzal C, et al. Rev Neurol. 2003 Jun 1-15;36(11):1030-4. Rev Neurol. 2003. PMID: 12808498 Free article. Spanish.
Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome.
Galán-Gómez E, Guerrero-Rico A, Cáceres-Marzal C, Zambrano-Castaño M, Moreno-Tejero ML, Grande-Tejada AM, Fernández-Hernández S, Vaquerizo-Madrid J, Cardesa-García JJ. Galán-Gómez E, et al. Among authors: caceres marzal c. Eur J Med Genet. 2008 May-Jun;51(3):268-71. doi: 10.1016/j.ejmg.2008.02.005. Epub 2008 Mar 4. Eur J Med Genet. 2008. PMID: 18396123
14 results