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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

207 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
Espinós C, Pineda M, Martínez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R. Espinós C, et al. Among authors: palau f. J Med Genet. 2009 Jun;46(6):407-11. doi: 10.1136/jmg.2008.060632. Epub 2009 Mar 19. J Med Genet. 2009. PMID: 19304569 Free article.
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Sevilla T, Sivera R, Martínez-Rubio D, Lupo V, Chumillas MJ, Calpena E, Dopazo J, Vílchez JJ, Palau F, Espinós C. Sevilla T, et al. Among authors: palau f. Eur J Neurol. 2015 Dec;22(12):1548-55. doi: 10.1111/ene.12782. Epub 2015 Jul 24. Eur J Neurol. 2015. PMID: 26204789
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.
Frasquet M, Chumillas MJ, Vílchez JJ, Márquez-Infante C, Palau F, Vázquez-Costa JF, Lupo V, Espinós C, Sevilla T. Frasquet M, et al. Among authors: palau f. J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1265-1268. doi: 10.1136/jnnp-2015-312890. Epub 2016 Apr 15. J Neurol Neurosurg Psychiatry. 2016. PMID: 27083531 No abstract available.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Among authors: palau f. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F. Claramunt R, et al. Among authors: palau f. J Med Genet. 2005 Apr;42(4):358-65. doi: 10.1136/jmg.2004.022178. J Med Genet. 2005. PMID: 15805163 Free PMC article. No abstract available.
A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.
Calpena E, Martínez-Rubio D, Arpa J, García-Peñas JJ, Montaner D, Dopazo J, Palau F, Espinós C. Calpena E, et al. Among authors: palau f. Neuromuscul Disord. 2014 Aug;24(8):660-5. doi: 10.1016/j.nmd.2014.04.004. Epub 2014 May 9. Neuromuscul Disord. 2014. PMID: 24878226
207 results