Search details
1.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Lancet Oncol
; 24(1): 91-106, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36436516
2.
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
Mov Disord
; 34(10): 1547-1561, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31433872
3.
Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux.
J Biol Chem
; 291(41): 21363-21374, 2016 Oct 07.
Article
in English
| MEDLINE | ID: mdl-27551041
4.
Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".
Mov Disord
; 34(12): 1932-1933, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31845766
5.
Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis.
J Med Genet
; 50(1): 25-33, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-23160276
6.
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
Hum Mutat
; 34(1): 79-82, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-22936364
7.
Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CBLB [correction of CLBL] genes.
Mult Scler
; 18(7): 959-65, 2012 Jul.
Article
in English
| MEDLINE | ID: mdl-22194214
8.
A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis.
BMC Med Genet
; 12: 86, 2011 Jun 27.
Article
in English
| MEDLINE | ID: mdl-21708027
9.
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
BMC Neurol
; 10: 89, 2010 Oct 08.
Article
in English
| MEDLINE | ID: mdl-20932283
10.
[Generalized arterial calcification in childhood: A case report]. / Calcificación arterial generalizada idiopática de la infancia: a propósito de un caso.
Rev Esp Patol
; 53(3): 193-196, 2020.
Article
in Spanish
| MEDLINE | ID: mdl-32650971
11.
Does arterial hypertension influence the onset of Huntington's disease?
PLoS One
; 13(5): e0197975, 2018.
Article
in English
| MEDLINE | ID: mdl-29791508
12.
Absence of COCH gene mutations in patients with superior semicircular canal dehiscence.
Am J Med Genet A
; 158A(1): 251-3, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22139968
13.
Non-endocrine hyperaldosteronism. When hormones are supporting players.
Endocrinol Diabetes Nutr (Engl Ed)
; 69(9): 763-766, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36402732
14.
RNAseq based transcriptomics study of SMCs from carotid atherosclerotic plaque: BMP2 and IDs proteins are crucial regulators of plaque stability.
Sci Rep
; 7(1): 3470, 2017 06 14.
Article
in English
| MEDLINE | ID: mdl-28615715
15.
Effect of resveratrol on alcohol-induced mortality and liver lesions in mice.
BMC Gastroenterol
; 6: 35, 2006 Nov 14.
Article
in English
| MEDLINE | ID: mdl-17105669
16.
Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene.
PLoS One
; 10(7): e0131573, 2015.
Article
in English
| MEDLINE | ID: mdl-26148071
17.
Brachydactyly E: isolated or as a feature of a syndrome.
Orphanet J Rare Dis
; 8: 141, 2013 Sep 12.
Article
in English
| MEDLINE | ID: mdl-24028571
18.
Fine mapping and functional analysis of the multiple sclerosis risk gene CD6.
PLoS One
; 8(4): e62376, 2013.
Article
in English
| MEDLINE | ID: mdl-23638056
19.
Calcificación arterial generalizada idiopática de la infancia: a propósito de un caso / Generalized arterial calcification in childhood: a case report
Rev. esp. patol
; 53(3): 193-196, jul.-sept. 2020. ilus
Article
in Spanish
| IBECS (Spain) | ID: ibc-194271
20.
[Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier]. / Síndrome de Holt Oram. Descripción de una familia afectada sin mutación del gen TBX5 ni manifestaciones en un probable transmisor.
Rev Esp Cardiol
; 64(12): 1225-6, 2011 Dec.
Article
in Spanish
| MEDLINE | ID: mdl-21752519