Espinós C - Search Results

1

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.

Gouttenoire EA, Lupo V, Calpena E, Bartesaghi L, Schüpfer F, Médard JJ, Maurer F, Beckmann JS, Senderek J, Palau F, Espinós C, Chrast R. Gouttenoire EA, et al. Among authors: espinos c. Glia. 2013 Jul;61(7):1041-51. doi: 10.1002/glia.22493. Epub 2013 Apr 2. Glia. 2013. PMID: 23553667

2

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millán JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D. Adato A, et al. Among authors: espinos c. Eur J Hum Genet. 2002 Jun;10(6):339-50. doi: 10.1038/sj.ejhg.5200831. Eur J Hum Genet. 2002. PMID: 12080385

3

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.

García-Planells J, Burguera JA, Solís P, Millán JM, Ginestar D, Palau F, Espinós C. García-Planells J, et al. Among authors: espinos c. Hum Mutat. 2005 May;25(5):453-9. doi: 10.1002/humu.20167. Hum Mutat. 2005. PMID: 15832309 Free article.

4

Autosomal recessive cerebellar ataxias.

Palau F, Espinós C. Palau F, et al. Among authors: espinos c. Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. Orphanet J Rare Dis. 2006. PMID: 17112370 Free PMC article. Review.

5

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.

Fernández-Burriel M, Martínez-Rubio D, Lupo V, Pérez-Colosía V, Piñán-López E, Palau F, Espinós C. Fernández-Burriel M, et al. Among authors: espinos c. Pediatr Res. 2008 Sep;64(3):262-4. doi: 10.1203/PDR.0b013e31817d9bf7. Pediatr Res. 2008. PMID: 18458655 Free article.

6

Gene symbol: SH3TC2. Disease: Charcot-Marie-Tooth type 4C.

Martínez-Rubio D, Millán JM, Palau F, Espinós C. Martínez-Rubio D, et al. Among authors: espinos c. Hum Genet. 2008 Oct;124(3):320. Hum Genet. 2008. PMID: 18846676 No abstract available.

7

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

Lupo V, Galindo MI, Martínez-Rubio D, Sevilla T, Vílchez JJ, Palau F, Espinós C. Lupo V, et al. Among authors: espinos c. Hum Mol Genet. 2009 Dec 1;18(23):4603-14. doi: 10.1093/hmg/ddp427. Epub 2009 Sep 10. Hum Mol Genet. 2009. PMID: 19744956 Free article.

8

Genetics and pathogenesis of inherited ataxias and spastic paraplegias.

Espinós C, Palau F. Espinós C, et al. Adv Exp Med Biol. 2009;652:263-96. doi: 10.1007/978-90-481-2813-6_18. Adv Exp Med Biol. 2009. PMID: 20225032 Review.

9

Inherited neuromuscular diseases. Translation from pathomechanisms to therapies.

Espinós C, Felipo V, Palau F. Espinós C, et al. Adv Exp Med Biol. 2009;652:v-vi. Adv Exp Med Biol. 2009. PMID: 20235380 No abstract available.

10

Congenital hypomyelinating neuropathy due to a novel MPZ mutation.

Sevilla T, Lupo V, Sivera R, Marco-Marín C, Martínez-Rubio D, Rivas E, Hernández A, Palau F, Espinós C. Sevilla T, et al. Among authors: espinos c. J Peripher Nerv Syst. 2011 Dec;16(4):347-52. doi: 10.1111/j.1529-8027.2011.00369.x. J Peripher Nerv Syst. 2011. PMID: 22176150 Free article.

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