Espinós C - Search Results

1

Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.

Lupo V, Pascual-Pascual SI, Sancho P, Calpena E, Gutiérrez-Molina M, Mateo-Martínez G, Espinós C, Arriola-Pereda G. Lupo V, et al. Among authors: espinos c. J Child Neurol. 2015 Oct;30(11):1544-8. doi: 10.1177/0883073815571049. Epub 2015 Feb 18. J Child Neurol. 2015. PMID: 25694466

2

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.

3

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.

4

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.

5

Autosomal recessive Charcot-Marie-Tooth neuropathy.

Espinós C, Calpena E, Martínez-Rubio D, Lupo V. Espinós C, et al. Adv Exp Med Biol. 2012;724:61-75. doi: 10.1007/978-1-4614-0653-2_5. Adv Exp Med Biol. 2012. PMID: 22411234 Review.

6

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.

Calpena E, Casado M, Martínez-Rubio D, Nascimento A, Colomer J, Gargallo E, García-Cazorla A, Palau F, Artuch R, Espinós C. Calpena E, et al. Among authors: espinos c. JIMD Rep. 2013;7:123-8. doi: 10.1007/8904_2012_166. Epub 2012 Jul 6. JIMD Rep. 2013. PMID: 23430506 Free PMC article.

7

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

8

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Dueñas B, Pérez-Cerda C, Artuch R. Tondo M, et al. Among authors: espinos c. Mol Genet Metab. 2013 Nov;110(3):231-6. doi: 10.1016/j.ymgme.2013.06.021. Epub 2013 Jul 6. Mol Genet Metab. 2013. PMID: 23890588

9

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Sivera R, Sevilla T, Vílchez JJ, Martínez-Rubio D, Chumillas MJ, Vázquez JF, Muelas N, Bataller L, Millán JM, Palau F, Espinós C. Sivera R, et al. Among authors: espinos c. Neurology. 2013 Oct 29;81(18):1617-25. doi: 10.1212/WNL.0b013e3182a9f56a. Epub 2013 Sep 27. Neurology. 2013. PMID: 24078732 Free PMC article.

10

New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.

Calpena E, Deshpande AA, Yap S, Kumar A, Manning NJ, Bachhawat AK, Espinós C. Calpena E, et al. Among authors: espinos c. Eur J Pediatr. 2015 Mar;174(3):407-11. doi: 10.1007/s00431-014-2397-0. Epub 2014 Aug 17. Eur J Pediatr. 2015. PMID: 25129617

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