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1.
Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation.
Neurol Sci
; 42(9): 3647-3654, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-33439394
2.
CONCOMITANT MUTATIONS IN INHERITED RETINAL DYSTROPHIES: Why the Reproductive and Therapeutic Counseling Should Be Addressed Cautiously.
Retina
; 41(9): 1966-1975, 2021 Sep 01.
Article
in English
| MEDLINE | ID: mdl-33411470
3.
Usher Syndrome: Genetics of a Human Ciliopathy.
Int J Mol Sci
; 22(13)2021 Jun 23.
Article
in English
| MEDLINE | ID: mdl-34201633
4.
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
Mol Vis
; 26: 216-225, 2020.
Article
in English
| MEDLINE | ID: mdl-32214787
5.
The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease.
Clin Chem Lab Med
; 56(2): 229-235, 2018 01 26.
Article
in English
| MEDLINE | ID: mdl-28742514
6.
A genetic basis for mechanosensory traits in humans.
PLoS Biol
; 10(5): e1001318, 2012.
Article
in English
| MEDLINE | ID: mdl-22563300
7.
Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.
Mol Vis
; 20: 1398-410, 2014.
Article
in English
| MEDLINE | ID: mdl-25352746
8.
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Neurol Genet
; 10(2): e200138, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38544965
9.
Phosphodiesterase inhibition induces retinal degeneration, oxidative stress and inflammation in cone-enriched cultures of porcine retina.
Exp Eye Res
; 111: 122-33, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23578797
10.
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.
Mov Disord Clin Pract
; 10(6): 992-997, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-37332636
11.
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
Mol Vis
; 18: 1719-26, 2012.
Article
in English
| MEDLINE | ID: mdl-22815625
12.
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
Mol Vis
; 18: 3070-8, 2012.
Article
in English
| MEDLINE | ID: mdl-23304067
13.
Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?
Diagnostics (Basel)
; 12(1)2022 Jan 06.
Article
in English
| MEDLINE | ID: mdl-35054295
14.
Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate "Diseased" Hepatocytes for Accurate Diagnosis.
J Pers Med
; 12(7)2022 Jul 07.
Article
in English
| MEDLINE | ID: mdl-35887608
15.
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
Sci Rep
; 12(1): 68, 2022 01 07.
Article
in English
| MEDLINE | ID: mdl-34996991
16.
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Neurol Genet
; 8(6): e200038, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-36530930
17.
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
Front Cell Dev Biol
; 9: 645600, 2021.
Article
in English
| MEDLINE | ID: mdl-34327195
18.
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.
Genes (Basel)
; 12(2)2021 02 16.
Article
in English
| MEDLINE | ID: mdl-33669459
19.
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
J Neurol Sci
; 429: 118062, 2021 10 15.
Article
in English
| MEDLINE | ID: mdl-34500365
20.
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome.
Front Mol Neurosci
; 14: 721047, 2021.
Article
in English
| MEDLINE | ID: mdl-34526879