Portal de recerca
CARACTERIZACION MOLECULAR DE PACIENTES CON SINDROME DE USHER. ESTUDIO DE LOS GENES RESPONSABLES: CDH23 Y PCDH15 Y CANDIDATOS: WHRN, CXADR Y PDZK7
Dades bàsiques
- Protocol:
- PI07/0558
- EURDRACT:
- NCT:
- Centre:
- Any inici:
- 2008
- Any de finalització:
- 2012
Documents
- No hi ha documents
Participants
Grups d'Investigació
Finançadors - Promotors
Resultats de l'Assaig Clínic
CPH-RP variants disrupt ciliogenesis of the retinal pigment epithelium: a novel cause of retinitis pigmentosa
Kalatzis, Vasiliki; (...); Perron, Muriel
Meeting Abstract. 2023
18 FDG PET/CT PREDICTS DECLINE IN FUNCTIONAL RESPIRATORY TESTS IN SYSTEMIC SCLEROSIS PATIENTS BUT NOT IN RHEUMATOID ARTHRITIS PATIENTS
Meeting Abstract. 10.1136/annrheumdis-2018-eular.6844. 2018
A genetic basis for mechanosensory traits in humans.
Frenzel H; (...); Lewin GR
Article. 10.1371/journal.pbio.1001318. 2012
A new approach to the treatment of the three symptoms of Meniere's disease: Labyrinthectomy and cochlear implant in the same surgical procedure.
Pérez-Garrigues H; (...); Morera C
Article. 10.1016/j.otorri.2013.11.007. 2015
Adalimumab Reduces Photoreceptor Cell Death in A Mouse Model of Retinal Degeneration
Martínez-Fernández de la Cámara C; (...); Rodrigo R
Article. 10.1038/srep11764. 2015
Altered antioxidant-oxidant status in the aqueous humor and peripheral blood of patients with retinitis pigmentosa.
Martínez-Fernández de la Cámara C; (...); Rodrigo R
Article. 10.1371/journal.pone.0074223. 2013
Altered antioxidant-oxidant status in the aqueous humor and peripheral blood of patients with retinitis pigmentosa.
Martínez-Fernández de la Cámara C; (...); Rodrigo R
Article. 2013
AMPK activation protects from neuronal dysfunction and vulnerability across nematode, cellular and mouse models of Huntington's disease
Vázquez-Manrique RP; (...); Neri C
Article. 10.1093/hmg/ddv513. 2016
An update on the genetics of usher syndrome.
Millán JM; (...); Ayuso C
Article. 10.1155/2011/417217. 2011
Analysis of the Ush2a gene in medaka fish (Oryzias latipes).
Aller E; (...); Mullor JL
Article. 10.1371/journal.pone.0074995. 2013
Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies
Fuster-Garcia, C; (...); Garcia-Garcia, G
Review. 10.3390/genes11050473. 2020
Aqueous humor levels of hepatocyte growth factor in retinitis pigmentosa.
Salom D; (...); Arevalo JF
Article. 10.1167/iovs.09-4390. 2010
Aqueous humor neutrophil gelatinase-associated lipocalin levels in patients with idiopathic acute anterior uveitis.
Salom D; (...); Diaz-Llopis M
Article. 2010
Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway
Ejarque I; (...); Pérez-Aytés A
Article. 10.33588/rn.6009.2014541. 2015
Atypical periodic alternating nystagmus responding to high-dose intravenous immunoglobulins: a case report
Argente-Escrig, H; (...); Casanova Estruch B
Article. 10.1186/s12974-017-0846-1. 2017
Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing Reply
Ayuso C; (...); Dal-Ré R
Letter. 10.1038/ejhg.2013.95. 2014
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Deveault C; (...); Héon E
Article. 10.1002/humu.21480. 2011
Beals-Hecht syndrome and choroidal neovascularization.
Gallego-Pinazo R; (...); Díaz-Llopis M
Article. 2010
cGMP-Phosphodiesterase Inhibition Prevents Hypoxia-Induced Cell Death Activation in Porcine Retinal Explants
Olivares-González L; (...); Rodrigo R
Article. 10.1371/journal.pone.0166717. 2016
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J; (...); Lapunzina P
Article. 10.1111/cge.14113. 2022
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
Baviera-Muñoz R; (...); Espinós C
Article. 10.1016/j.jns.2021.118062. 2021
Clinical Aspects of Usher Syndrome and the USH2A Gene in a Cohort of 433 Patients
Blanco-Kelly F; (...); Ayuso C
Article. 10.1001/jamaophthalmol.2014.4498. 2015
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Muelas, Nuria; (...); Vilchez, Juan J
Article. 10.1007/s00415-024-12821-3. 2025
CLINICAL TRIALS IN NEONATOLOGY: IS IT EASY TO CARRY THEM OUT?
Serrano-Millan, C.; (...); Izquierdo, I.
Meeting Abstract. 2016
Concomitant mutations in inherited retinal dystrophies: why the reproductive and therapeutic counselling should be addressed cautiously.
Rodriguez-Munoz, Ana; (...); Millan, Jose
Article. 10.1097/IAE.0000000000003103. 2021
Contribution of Mutation Load to the Intrafamilial Genetic Heterogeneity in a Large Cohort of Spanish Retinal Dystrophies Families
Sánchez-Alcudia R; (...); Ayuso C
Article. 10.1167/iovs.14-14938. 2014
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases
Calucho, M; (...); Tizzano, EF
Article. 10.1016/j.nmd.2018.01.003. 2018
Changes in lipid metabolism driven by steroid signalling modulate proteostasis in C. elegans.
Gomez-Escribano, Ana P.; (...); Vazquez-Manrique, Rafael P.
Article. 10.15252/embr.202255556. 2023
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.
van den Ouweland AM; (...); Halley DJ
Article. 10.1038/ejhg.2010.156. 2011
Charcot-Marie-Tooth disease Genetic and clinical spectrum in a Spanish clinical series
Sivera, Rafael; (...); Espinos, Carmen
Article. 10.1212/WNL.0b013e3182a9f56a. 2013
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
Sivera R; (...); Espinós C
Article. 10.1212/WNL.0b013e3182a9f56a. 2013
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
Esteve-Garcia A; (...); Aguilera C
Article. 10.3389/fgene.2024.1352063. 2024
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Blasco-Perez, Laura; (...); Tizzano, Eduardo F.
Article. 10.3390/ijms23158289. 2022
DEVELOPMENT OF A CELLULAR MODEL OF ACUTE MYELOID LEUKEMIA THROUGH CRISPR/CAS 9 TECHNOLOGY
Romero, EG; (...); Zamora, JVC
Meeting Abstract. 2017
Diagnoses in HyperCKemia: study from classical aproach to the use of new technologies (NGS).
Marti, P; (...); Padilla, JV
Meeting Abstract. 2018
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Munoz, Raquel; (...); Aller, Elena
Article. 10.1212/NXG.0000000000200038. 2022
DIFFERENCES IN BONE METABOLISM BETWEEN INTERMITTENT AND CONTINUOUS TREATMENT WITH LHRH AGONISTS IN PROSTATE CANCER PATIENTS
Arevalo, KR; (...); Roman, JA
Meeting Abstract. 10.1136/annrheumdis-2018-eular.6948. 2018
Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases
Blanco-Kelly F; (...); Ayuso C
Article. 10.1371/journal.pone.0149473. 2016
Doppler ultrasound and giant cell arteritis.
Suelves AM; (...); Díaz-Llopis M
Article. 10.2147/OPTH.S13006. 2010
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion
Poyatos-Garcia, Javier; (...); Jesus Vilchez, Juan
Article. 10.1002/ana.26461. 2022
Early evoked potentials in clinically isolated syndrome patients
Parra, S.; (...); Casanova, B.
Article. 2009
Editorial: Inherited retinal dystrophies: a light at the end of the tunnel?
Perkins, Brian D.; (...); Millan, Jose M.
Editorial Material. 10.3389/fcell.2023.1301279. 2023
Effects of Poly-Bioactive Compounds on Lipid Profile and Body Weight in a Moderately Hypercholesterolemic Population with Low Cardiovascular Disease Risk: A Multicenter Randomized Trial
Solà R; (...); Anguera A
Article. 10.1371/journal.pone.0101978. 2014
Efficacy and safety of the pars plana clip in the Ahmed valve device inserted via the pars plana in patients with refractory glaucoma.
Diaz-Llopis M; (...); Arevalo JF
Article. 2010
El asesoramiento genético en los déficits visuales y auditivos.
Millán JM; (...); Nájera C
Abstract of Published Item. 2008
El nuevo reto en oncologia: la secuenciacion NGS y su aplicacion a la medicina de precision.
Calabria I; (...); Castel V
Article. 10.1016/j.anpedi.2016.05.006. 2016
Enzymatic vitrectomy for diabetic retinopathy and diabetic macular edema.
Diaz-Llopis M; (...); Arevalo JF
Article. 10.4239/wjd.v4.i6.319. 2013
Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G > T; p.Cys759Phe in the USH2A gene
Zurita-Diaz, F; (...); Gallardo, ME
Article. 10.1016/j.scr.2018.08.002. 2018
Evaluation of machine learning models for the detection of familial predisposition in Meniere's disease
Roman-Naranjo, Pablo; (...); Lopez-Escamez, Antonio
Meeting Abstract. 2024
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment
Garcia-Garcia, Gema; (...); Ayuso, Carmen
Article. 2020
Expanding the clinical and molecular heterogeneity of nonsyndromic inherited retinal dystrophies.
Rodríguez-Muñoz A; (...); Millán JM
Article. 10.1016/j.jmoldx.2020.01.003. 2020
Expanding the Genetic Landscape of Usher-Like Phenotypes.
Fuster-García C; (...); Millán JM
Article. 10.1167/iovs.19-27470. 2019
Experience of targeted Usher exome sequencing as a clinical test.
Besnard T; (...); Roux AF
Article. 10.1002/mgg3.25. 2014
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
Garcia-Bohorquez, Belen; (...); Millan, Jose M
Article. 10.1016/j.omtn.2024.102374. 2024
Functional analysis of splicing mutations in MYO7A and USH2A genes.
Article. 10.1111/j.1399-0004.2010.01454.x. 2011
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
Rodriguez-Munoz, Ana; (...); Garcia-Garcia, Gema
Article. 10.1038/s41598-021-03925-1. 2022
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
del Carmen Ortuno-Costela, Maria; (...); Esther Gallardo, Maria
Article. 10.3390/ijms232213964. 2022
Genetic diagnostic of inherited retinal dystrophies through clinical exome sequencing
Barberan-Martinez, Pilar; (...); Millan, Jose M.
Meeting Abstract. 2024
Genetic Screening of the Usher Syndrome in Cuba
Santana, EE; (...); Lantigua, A
Article. 10.3389/fgene.2019.00501. 2019
Genetic Testing for Rare Diseases
Millan, Jose M., Garcia-Garcia, Gema
Article. 10.3390/diagnostics12040809. 2022
Genetic testing information standardization in HL7 CDA and ISO13606.
Bosca D; (...); Maldonado JA
Article. 10.3233/978-1-61499-289-9-338. 2013
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
Article. 10.1111/cge.12015. 2013
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2
Stemerdink M; (...); Millan JM
Article. 10.1007/s00439-021-02324-w. 2021
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Galbis-Martínez L; (...); Ayuso C
Article. 10.1111/aos.14795. 2021
Guidelines for genetic study of aniridia.
Blanco-Kelly F; (...); Ayuso C
Article. 10.1016/j.oftal.2012.07.006. 2013
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Palencia-Campos A; (...); Ruiz-Pérez VL
Article. 10.1002/humu.23921. 2020
HIF-1 alpha stabilization reduces retinal degeneration in a mouse model of retinitis pigmentosa
Olivares-Gonzalez, L; (...); Rodrigo, R
Article. 10.1096/fj.201700985R. 2018
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative
Fuster-Garcia, C; (...); Millan, JM
Article. 10.1038/s41598-018-35085-0. 2018
Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.
Article. 10.1167/iovs.10-5359. 2010
IL2 DECREASE AND INCREASE OF IL10 AND INF1A ARE ASSOCIATED TO CLINICAL ACTIVITY IN SYSTEMIC LUPUS ERYTHEMATOUSPATIENTS
Meeting Abstract. 10.1136/annrheumdis-2018-eular.6747. 2018
Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene
Alías L; (...); Tizzano EF
Article. 10.1111/cge.12222. 2014
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
Garcia-Garcia, Gema; (...); Aller, Elena
Article. 10.3390/genes11121467. 2020
Increased Velocity Storage in Subjects with Meniere's Disease
Krstulovic, C; (...); Perez, CM
Article. 10.5152/iao.2016.1947. 2016
Infliximab reduces Zaprinast-induced retinal degeneration in cultures of porcine retina
Martínez-Fernández de la Cámara C; (...); Rodrigo R
Article. 10.1186/s12974-014-0172-9. 2014
Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process.
Ayuso C; (...); Dal-Ré R
Article. 10.1038/ejhg.2012.297. 2013
Insights into the role of microRNAs in cardiac diseases: from biological signalling to therapeutic targets.
Zorio E; (...); Estellés A
Article. 2009
Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.
Borrego-Hernandez, Daniel; (...); Garcia-Redondo, Alberto
Article. 10.3390/biomedicines12020356. 2024
Intravitreal administration of adalimumab delays retinal degeneration in rd10 mice.
Olivares-González L; (...); Rodrigo R
Article. 10.1096/fj.202000044RR. 2020
Intravitreal ranibizumab for symptomatic drusenoid pigment epithelial detachment without choroidal neovascularization in age-related macular degeneration.
Gallego-Pinazo R; (...); Díaz-Llopis M
Article. 10.2147/OPTH.S15832. 2011
Intravitreal ranibizumab in the treatment of cystoid macular edema associated with retinitis pigmentosa.
Salom D; (...); Arevalo JF
Letter. 10.1089/jop.2010.0044. 2010
Lipid Oxidation at the Crossroads: Oxidative Stress and Neurodegeneration Explored in Caenorhabditis elegans
Tortajada-Perez, Julia; (...); Vazquez-Manrique, Rafael Pascual
Review. 10.3390/antiox14010078. 2025
Long-read sequencing for improving the characterization of rare inherited eye diseases
Rodilla, Cristina; (...); Ayuso, Carmen
Meeting Abstract. 2024
Macular retinal vessel density assessment of the superficial, deep plexus and choriocapillaris in patients with retinitis pigmentosa and in healthy individuals using SS-OCT Angiography
Valencia-Perez, C; (...); Millan, JM
Meeting Abstract. 2019
Management and return of incidental genomic findings in clinical trials
Ayuso C, Millan JM, Dal-Re R
Article. 10.1038/tpj.2014.62. 2015
Metformin intake associates with better cognitive function in patients with Huntington's disease
Hervas, David; (...); Vazquez-Manrique, Rafael P.
Article. 10.1371/journal.pone.0179283. 2017
Metformin to treat Huntington disease: a pleiotropic drug against a multi-system disorder.
Trujillo-Del Río C; (...); Vázquez-Manrique RP
Article. 10.1016/j.mad.2022.111670. 2022
Metformin treatment reduces motor and neuropsychiatric phenotypes in the zQ175 mouse model of Huntington disease
Sanchis, A; (...); Vazquez-Manrique, RP
Article. 10.1038/s12276-019-0264-9. 2019
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Article. 10.1167/iovs.09-4085. 2010
Micro-RNA regulation of the angiogenic response in the diabetic retina.
Campos-Borges HC; (...); Pinazo-Duran MD
Editorial Material. 10.1016/j.oftal.2019.09.003. 2020
miRNAs and Genes Involved in the Interplay between Ocular Hypertension and Primary Open-Angle Glaucoma. Oxidative Stress, Inflammation, and Apoptosis Networks
Raga-Cervera, J; (...); Zanon-Moreno, V
Article. 10.3390/jcm10112227. 2021
MODELING OF IDH2 GENE MUTATIONS IN THE CAENORHABDITIS ELEGANS ORGANISM. DEVELOPMENT OF A NEW STUDY MODEL
Gonzalez-Romero, E.; (...); Cervera-Zamora, J.
Meeting Abstract. 2021
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
Ávila-Fernández A; (...); Ayuso C
Article. 2010
Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.
Oshima A; (...); Kimberling WJ
Article. 10.1002/humu.20761. 2008
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
Jaijo T; (...); Kimberling WJ
Article. 2012
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Barragán I; (...); Antiñolo G
Article. 10.1002/humu.21334. 2010
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Alías L; (...); Tizzano EF
Article. 10.1007/s00439-008-0598-1. 2009
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
Garcia-Garcia G; (...); Aller E
Article. 10.1186/1750-1172-6-65. 2011
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases
Vieitez, I; (...); Navarro, C
Article. 10.1016/j.nrl.2015.12.009. 2017
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
Billingsley G; (...); Héon E
Article. 10.1136/jmg.2009.073205. 2010
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy
Muelas, N.; (...); Vilchez, J. J.
Article. 2010
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.
Muelas N; (...); Vílchez JJ
Article. 10.1212/WNL.0b013e3181eee4d5. 2010
Nasal ciliary beat frequency and beat pattern in retinal ciliopathies.
Armengot M; (...); Cortijo J
Article. 10.1167/iovs.11-8666. 2012
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy
Moreau-Le Lan, S; (...); Pedrola, L
Article. 10.1371/journal.pone.0207296. 2018
Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa
García-García G; (...); Millán JM
Article. 2014
Novel mutations in the USH1C gene in Usher syndrome patients.
Aparisi MJ; (...); Millán JM
Article. 2010
Novel mutations in the USH1C gene in Usher syndrome patients.
Aparisi MJ; (...); Millán JM
Article. 2010
NUTRARET: Effect of 2-Year Nutraceutical Supplementation on Redox Status and Visual Function of Patients With Retinitis Pigmentosa: A Randomized, Double-Blind, Placebo-Controlled Trial
Olivares-Gonzalez, Lorena; (...); Rodrigo, Regina
Article. 10.3389/fnut.2022.847910. 2022
Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.
Berzal-Serrano, Alba; (...); Millan, Jose M
Article. 10.3390/ijns11010007. 2025
Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration
Espinos, C; (...); Pallardo, FV
Review. 10.3390/antiox9040313. 2020
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Perez-Carro R; (...); Ayuso C
Article. 10.1038/srep19531. 2016
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa (vol 6, 19531, 2016)
Perez-Carro R; (...); Ayuso C
Correction. 10.1038/srep24843. 2016
PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.
González-Romero E; (...); Vázquez-Manrique RP
Article. 10.3390/cancers15174263. 2023
Phenotypic profile of autosomal dominant GDAP1 mutations causing Charcot-Marie-Tooth disease
Sivera, R.; (...); Sevilla, T.
Article. 2010
Phosphodiesterase inhibition induces retinal degeneration, oxidative stress and inflammation in cone-enriched cultures of porcine retina.
Martínez-Fernández de la Cámara C; (...); Rodrigo R
Article. 10.1016/j.exer.2013.03.015. 2013
Pilot study for the implementation of newborn screening for spinal muscular atrophy in Valencia
Berzal-Serrano, Alba; (...); Millan, Jose M.
Meeting Abstract. 10.2174/1871530323666230914122955. 2024
Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.
Bernal S; (...); Tizzano EF
Article. 10.1016/j.nmd.2011.03.009. 2011
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.
Bea-Mascato B; (...); Valverde D
Article. 10.3390/genes12020282. 2021
Progress in the genetic diagnosis of inherited retinal dystrophies
Rodriguez-Munoz, A; (...); Jaijo, T
Meeting Abstract. 2018
Reactive Species in Huntington Disease: Are They Really the Radicals You Want to Catch?
Bono-Yagüe J; (...); Vázquez-Manrique RP
Review. 10.3390/antiox9070577. 2020
Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population.
Sanchez-Jimeno C; (...); Del Río M
Letter. 10.1111/j.1365-2133.2012.11128.x. 2013
Recomendaciones de buenas prácticas para el diagnóstico genético de la distrofia miotónica.
Garcia Planells J; (...); Grupo AEGH
Article. 10.1016/j.medcli.2010.04.020. 2011
Redox Status in Retinitis Pigmentosa.
Olivares-González L; (...); Rodrigo R
Article. 10.1007/978-3-031-27681-1_65. 2023
Re-Evaluation Casts Doubt on the Pathogenicity of Homozygous USH2A p.C759F
Pozo MG; (...); Antiñolo G
Article. 10.1002/ajmg.a.37003. 2015
Repair of the prevalent c.2299delG mutation in the USH2A gene using CRISPR/Cas9 nucleases
Fuster-Garcia, C; (...); Aller, E
Meeting Abstract. 2018
Response Over Time of Vertigo Spells to Intratympanic Dexamethasone Treatment in Meniere's Disease Patients
Al Attrache, NA; (...); Garrigues, HP
Article. 10.5152/iao.2016.2177. 2016
Retinitis pigmentosa and allied conditions today: a paradigm of translational research.
Ayuso C, Millan JM
Article. 10.1186/gm155. 2010
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.
Krawitz PM; (...); Gross M
Article. 10.1002/mgg3.92. 2014
Severe and moderate hemophilia A: identification of 38 new genetic alterations.
Casaña P; (...); Aznar JA
Article. 10.3324/haematol.12344. 2008
Severe vestibulocochlear involvement in Wegener's granulomatosis: a rare presentation.
Tulsidas-Mahtani B; (...); Morera C
Article. 10.1016/j.otorri.2012.08.004. 2014
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.
Muelas N; (...); Vílchez JJ
Article. 10.1111/j.1399-0004.2011.01667.x. 2012
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.
Muelas, N; (...); Vílchez, JJ
Article. 2012
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain
Baviera-Munoz, Raquel; (...); Bataller, Luis
Article. 10.1002/mdc3.13740. 2023
STEROID HORMONE SIGNALING MAY REGULATE HOMEOSTASIS OF POLYQ-CONTAINING PROTEINS IN C. ELEGANS
Gomez-Escribano, A. P.; (...); Vazquez-Manrique, R.
Meeting Abstract. 10.1136/jnnp-2018-EHDN.26. 2018
STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.
Baviera-Munoz, Raquel; (...); Aller, Elena
Article. 10.1002/mds.29910. 2024
STUDY OF TRANSCRIPTIONAL DIFFERENCES BETWEEN THE IDH2 R140 AND R172 MUTATIONS BY MEANS OF MODELING IN THE ORGANISM CAENORHABDITIS ELEGANS
Gonzalez, Romero Elisa; (...); Cervera, Jose Vicente
Meeting Abstract. 2020
Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.
Aparisi MJ; (...); Millán JM
Article. 10.1371/journal.pone.0057506. 2013
Synergistic activation of AMPK prevents from polyglutamine-induced toxicity in Caenorhabditis elegans.
Gómez-Escribano AP; (...); Vázquez-Manrique RP
Article. 10.1016/j.phrs.2020.105105. 2020
SYNERGISTIC COMBINATIONS OF METFORMIN AND SALICYLATE REDUCE POLYGLUTAMINE TOXICITY IN C. ELEGANS
Bono-Yague, Jose; (...); Vazquez-Manrique, Rafael
Meeting Abstract. 10.1136/jnnp-2018-EHDN.256. 2018
Targeted next generation sequencing for molecular diagnosis of Usher syndrome
Aparisi MJ; (...); Millán JM
Article. 10.1186/s13023-014-0168-7. 2014
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet, Beatrice; (...); Kalatzis, Vasiliki
Article. 10.1172/jci.insight.169426. 2023
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor.
Bernal S; (...); Tizzano EF
Letter. 10.1136/jmg.2010.079004. 2010
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
García-García G; (...); Roux AF
Article. 2013
The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease
Rodriguez-Munoz, A; (...); Jaijo, T
Article. 10.1515/cclm-2017-0226. 2018
The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients
Tell-Marti, G; (...); Puig, S
Article. 10.1007/s12035-016-0305-5. 2017
The role of vertical semicircular canal function in the vertical component of skull vibration-induced nystagmus
Matos, R; (...); Perez-Garrigues, H
Article. 10.1080/00016489.2020.1751877. 2020
The USH2A c.2299delG mutation: dating its common origin in a Southern European population.
Article. 10.1038/ejhg.2010.14. 2010
Topical linezolid for refractory bilateral Mycobacterium chelonae post-laser-assisted in situ keratomileusis keratitis.
Dolz-Marco R; (...); Díaz-Llopis M
Letter. 10.1001/archophthalmol.2012.1495. 2012
TRANSCRIPTOMICAL ANALYSIS AND MODELING IN C.ELEGANS OF THE IDH2 R140 R172 MUTATION
Gonzalez-Romero, E.; (...); Cervera-Zamora, J., V
Meeting Abstract. 2019
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
García-García G; (...); Millán JM
Article. 2012
Uniparental Disomy of chromosome 16 as a cause of Primary Ciliary Dyskinesia
Carretero-Vilarroig, Lidon; (...); Jaijo, Teresa
Meeting Abstract. 2024
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families
Perez-Carro, R; (...); Ayuso, C
Article. 10.1371/journal.pone.0199048. 2018
Updating the Genetic Landscape of Inherited Retinal Dystrophies
Bohorquez, Belen Garcia; (...); Millán JM
Article. 10.3389/fcell.2021.645600. 2021
Use of CGH-array in paraffin-tissue samples of fetus with congenital defects
Pi, G; (...); Zuniga, A
Meeting Abstract. 2018
USE OF CRISPR/CAS9 TECHNOLOGY TO MODIFY THE IDH2 GENE IN BOTH IN-VIVO AND IN-VITRO MODELS
Gonzalez Romero, E.; (...); Cervera, J., V
Meeting Abstract. 2018
USH2A Gene Editing Using the CRISPR System
Fuster-Garcia, C; (...); Aller, E
Article. 10.1016/j.omtn.2017.08.003. 2017
USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans.
Schwaller F; (...); Lewin GR
Article. 10.1038/s41593-020-00751-y. 2021
Usher syndrome in Puerto Rico: a clinical and genetic study.
Colón-Casasnovas JE, Izquierdo NJ, Millán JM
Article. 2010
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
Vaché C; (...); Roux AF
Article. 10.1002/humu.21634. 2012
Usher Syndrome: Genetics of a Human Ciliopathy
Fuster-García C; (...); García-García G
Review. 10.3390/ijms22136723. 2021
Valencia's Cathedral Church Bell Acoustics Impact on the Hearing Abilities of Bell Ringers
Garcia, L; (...); Lloret, J
Article. 10.3390/ijerph16091564. 2019
Vestibular and auditory function in patients with Charcot-Marie-Tooth disease due to mutations in the SH3TC2 gene
Sivera, R.; (...); Sevilla, T.
Article. 2013
Vestibular impairment in Charcot-Marie-Tooth disease type 4C
Pérez-Garrigues H; (...); Sevilla T
Letter. 10.1136/jnnp-2013-307421. 2014
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.
Sevilla T; (...); Palau F
Article. 10.1093/brain/awn228. 2008
ZONISAMIDE TREATMENT IN FAMILIAL ESSENTIAL MYOCLONUS
Smeyers, P.; (...); Villanueva, V.
Article. 2009