Fernández-Marmiesse A - Search Results

1

Paucisymptomatic hyperCKemia due to a mutation in the ANO5 gene.

Alcahut-Rodríguez C, Díaz-Maroto I, Fernández-Marmiesse A, García-García J. Alcahut-Rodríguez C, et al. Among authors: fernandez marmiesse a. Neurologia (Engl Ed). 2020 Sep;35(7):510-512. doi: 10.1016/j.nrl.2018.10.007. Epub 2019 Mar 8. Neurologia (Engl Ed). 2020. PMID: 30857783 Free article. English, Spanish. No abstract available.

2

Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy.

Ribeiro J, Rebelo O, Fernández-Marmiesse A, Negrão L. Ribeiro J, et al. Acta Myol. 2018 Jun 1;37(2):117-120. eCollection 2018 Jun. Acta Myol. 2018. PMID: 30057996 Free PMC article.

3

[De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia].

Carrasco-Marina ML, Quijada-Fraile P, Fernandez-Marmiesse A, Gutierrez-Cruz N, Martin-Del Valle F. Carrasco-Marina ML, et al. Among authors: fernandez marmiesse a. Rev Neurol. 2019 May 1;68(9):398-399. doi: 10.33588/rn.6809.2018455. Rev Neurol. 2019. PMID: 31017293 Free article. Spanish.

4

The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.

Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B; MITOSPAIN Working Group; Martín MA, Montoya J, Artuch R. Bellusci M, et al. Genes (Basel). 2021 Oct 9;12(10):1590. doi: 10.3390/genes12101590. Genes (Basel). 2021. PMID: 34680984 Free PMC article.

5

Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions.

de Fuenmayor-Fernández de la Hoz CP, Hernández-Laín A, Olivé M, Fernández-Marmiesse A, Domínguez-González C. de Fuenmayor-Fernández de la Hoz CP, et al. Neuromuscul Disord. 2016 Nov;26(11):749-753. doi: 10.1016/j.nmd.2016.07.003. Epub 2016 Jul 16. Neuromuscul Disord. 2016. PMID: 27618135

6

A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.

De Fuenmayor-Fernández De La Hoz CP, Domínguez-González C, Gonzalo-Martínez JF, Esteban-Pérez J, Fernández-Marmiesse A, Arenas J, Martín MA, Hernández-Laín A. De Fuenmayor-Fernández De La Hoz CP, et al. Muscle Nerve. 2016 Oct;54(4):806-8. doi: 10.1002/mus.25183. Epub 2016 Jun 9. Muscle Nerve. 2016. PMID: 27169979 No abstract available.

7

SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family.

Almendra L, Laranjeira F, Fernández-Marmiesse A, Negrão L. Almendra L, et al. Acta Myol. 2018 May 1;37(1):2-4. eCollection 2018 May. Acta Myol. 2018. PMID: 30079398 Free PMC article.

8

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement.

Fernández-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, Nascimento A, Ortez C, Romero N, Palacios L, Jimenez-Mallebrera C, Jou C, Gouveia S, Couce ML. Fernández-Marmiesse A, et al. Neuromuscul Disord. 2017 Feb;27(2):188-192. doi: 10.1016/j.nmd.2016.11.002. Epub 2016 Nov 11. Neuromuscul Disord. 2017. PMID: 28040389

9

[18F-fluoro-L-DOPA PET-CT imaging combined with genetic analysis for optimal classification and treatment in a child with severe congenital hyperinsulinism].

Arbizu Lostao J, Fernández-Marmiesse A, Garrastachu Zumarrán P, Martino Casado E, Azcona San Julián C, Carracedo A, Richter Echevarría JA. Arbizu Lostao J, et al. An Pediatr (Barc). 2008 May;68(5):481-5. doi: 10.1157/13120046. An Pediatr (Barc). 2008. PMID: 18447993 Free article. Spanish.

10

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M, Fraga JM, Lacerda L, Gouveia S, Pérez-Poyato MS, Armstrong J, Castiñeiras D, Cocho JA. Fernández-Marmiesse A, et al. Orphanet J Rare Dis. 2014 Apr 25;9:59. doi: 10.1186/1750-1172-9-59. Orphanet J Rare Dis. 2014. PMID: 24767253 Free PMC article.

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