Calpena E - 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: calpena e. Glia. 2013 Jul;61(7):1041-51. doi: 10.1002/glia.22493. Epub 2013 Apr 2. Glia. 2013. PMID: 23553667

2

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

Pla-Martín D, Calpena E, Lupo V, Márquez C, Rivas E, Sivera R, Sevilla T, Palau F, Espinós C. Pla-Martín D, et al. Among authors: calpena e. Hum Mol Genet. 2015 Jan 1;24(1):213-29. doi: 10.1093/hmg/ddu440. Epub 2014 Aug 28. Hum Mol Genet. 2015. PMID: 25168384

3

Autosomal recessive Charcot-Marie-Tooth neuropathy.

Espinós C, Calpena E, Martínez-Rubio D, Lupo V. Espinós C, et al. Among authors: calpena e. 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.

4

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: calpena e. J Child Neurol. 2015 Oct;30(11):1544-8. doi: 10.1177/0883073815571049. Epub 2015 Feb 18. J Child Neurol. 2015. PMID: 25694466

5

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: calpena e. Eur J Neurol. 2015 Dec;22(12):1548-55. doi: 10.1111/ene.12782. Epub 2015 Jul 24. Eur J Neurol. 2015. PMID: 26204789

6

The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway.

Calpena E, López Del Amo V, Chakraborty M, Llamusí B, Artero R, Espinós C, Galindo MI. Calpena E, et al. Dis Model Mech. 2018 Jan 17;11(1):dmm029082. doi: 10.1242/dmm.029082. Dis Model Mech. 2018. PMID: 29208631 Free PMC article.

7

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. JIMD Rep. 2013;7:123-8. doi: 10.1007/8904_2012_166. Epub 2012 Jul 6. JIMD Rep. 2013. PMID: 23430506 Free PMC article.

8

Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species.

Calpena E, Palau F, Espinós C, Galindo MI. Calpena E, et al. PLoS One. 2015 Jul 31;10(7):e0134106. doi: 10.1371/journal.pone.0134106. eCollection 2015. PLoS One. 2015. PMID: 26230726 Free PMC article.

9

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. 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

10

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. 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

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