Portal de investigación
TRANSLATIONAL RESEARCH, EXPERIMENTAL MEDICINE AND THERAPEUTICS ON CHARCOT-MARIE-TOOTH. TREAT-CMT
Datos básicos
- Protocolo:
- TREAT-CMT
- EUDRACT:
- NCT:
- Centro:
- Año de incio:
- 2012
- Año de finalización:
- 2015
Objetivos del proyecto
FAVORABLE
Documentos
- No hay documentos
Participantes
Grupos
Financiadores - Promotores
Resultados del Ensayo Clínico
[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].
Berciano J; (...); Illa I
Abstract of Published Item. 10.1016/j.nrl.2011.04.015. 2012
CPH-RP variants disrupt ciliogenesis of the retinal pigment epithelium: a novel cause of retinitis pigmentosa
Kalatzis, Vasiliki; (...); Perron, Muriel
Meeting Abstract. 2023
A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study
Davila, Lucia Galan; (...); Tarilonte, Patricia
Article. 10.1186/s13023-024-03304-9. 2024
A Multicenter, Double-Blind, Placebo-Controlled, Pivotal Phase III Study (PLEO-CMT) of a Fixed Combination of Baclofen, Naltrexone and Sorbitol (PXT3003) for Charcot-Marie-Tooth Disease Type 1A (CMT1A)
Attarian, S; (...); Goedkoop, R
Meeting Abstract. 2018
A mutation in TNPO3 causes LGMD1F and characteristic nuclear pathology
Kubota, A.; (...); Hirano, M.
Article. 10.1016/j.nmd.2013.06.464. 2013
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: the role of nerve pathology in defining a demyelinating neuropathy.
Argente-Escrig, Herminia; (...); Sevilla, Teresa
Article. 10.1111/nan.12817. 2022
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome
Chaouch, A.; (...); Lochmueller, H.
Article. 10.1016/j.nmd.2011.12.004. 2012
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.
Chaouch A; (...); Lochmüller H
Article. 10.1007/s00415-011-6204-9. 2012
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Cabrera-Serrano, M; (...); Paradas, C
Article. 10.1212/WNL.0000000000005862. 2018
A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.
Muelas N; (...); Vilchez JJ
Article. 10.1111/ene.14630. 2021
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4
Argente-Escrig, H; (...); Sevilla, T
Article. 10.1016/j.jns.2019.05.015. 2019
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4
Argente-Escrig, H.; (...); Sevilla, T.
Meeting Abstract. 2019
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
Analysis of Juvenile Onset Pompe Disease patients included in the Spanish Pompe Registry
Martinez Marin, R.; (...); Diaz Manera, J.
Meeting Abstract. 2022
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D; (...); Díaz-Manera J
Article. 10.1007/s00415-023-11862-4. 2023
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
García-Redondo A; (...); Lleó A
Article. 10.1002/humu.22211. 2013
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain
Dols-Icardo O; (...); Clarimón J
Letter. 10.1093/brain/awv175. 2015
Analysis of the diagnostic pathway and delay in patients with amyotrophic lateral sclerosis in the Valencian Community.
Vázquez-Costa JF; (...); Sevilla-Mantecón T
Article. 10.1016/j.nrl.2018.03.026. 2018
Analysis of the diagnostic pathway and delay in patients with amyotrophic lateral sclerosis in the Valencian Community.
Vazquez-Costa, J F; (...); Sevilla-Mantecon, T
Article. 10.1016/j.nrleng.2018.03.023. 2021
Analysis of the Ush2a gene in medaka fish (Oryzias latipes).
Aller E; (...); Mullor JL
Article. 10.1371/journal.pone.0074995. 2013
ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism
Rubio-Solsona, E; (...); Hoenicka, J
Article. 10.1371/journal.pone.0197254. 2018
Antibodies against nodo-paranodal proteins are not present in genetic neuropathies.
Martín-Aguilar L; (...); Querol L
Article. 10.1212/WNL.0000000000009189. 2020
AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action
Cerro-Herreros, Estefania; (...); Artero, Ruben
Article. 10.1126/sciadv.adn6525. 2024
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
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
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy
Article. 10.1016/j.jmoldx.2015.10.005. 2016
Asymptomatic HyperCKemia in the Pediatric Population A Prospective Study Utilizing Next-Generation Sequencing and Ancillary Tests
Marti, Pilar; (...); Vilchez, Juan Jesus
Article. 10.1212/WNL.0000000000210116. 2025
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
McDonald, CM; (...); ACT DMD Study Group
Article. 10.1016/S0140-6736(17)31611-2. 2017
Atypical desminopathy with new mutation and autosomal recessive transmission
Marti, P; (...); Padilla, JJV
Meeting Abstract. 2018
Audiological Findings in Charcot-Marie-Tooth Disease Type 4C
Sivera, R; (...); Sevilla, T
Article. 10.5152/iao.2017.3379. 2017
Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia.
Sivera R; (...); Bataller L
Article. 10.1007/s00415-011-6266-8. 2012
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
AUTOSOMAL RECESSIVE MME MUTATIONS BROADEN THE CLINICAL PHENOTYPE ASSOCIATED WITH CMT2T
Lupo, V; (...); Espinos, C
Meeting Abstract. 2017
Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.
Article. 10.1111/ene.14512. 2020
BIN1 founder mutation in the Spanish gypsy population is the most frequent cause of adult onset centronuclear myopathies in the south of Spain
Cabrera-Serrano, M; (...); Paradas, C
Meeting Abstract. 10.1016/j.nmd.2017.06.288. 2017
Brain signal intensity changes as biomarkers in amyotrophic lateral sclerosis
Vazquez-Costa, JF; (...); Sevilla, T
Article. 10.1111/ane.12863. 2018
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 and genetic profile, and assessment of disability in childhood hereditary motor neuropathy
Argente-Escrig, H; (...); Menezes, M
Meeting Abstract. 2020
Clinical and genetic spectrum of a large cohort of delta-sarcoglycan muscular dystrophy
Alonso-Perez, J; (...); Diaz-Manera, J
Meeting Abstract. 10.1016/j.nmd.2021.07.202. 2021
Clinical and Magnetic Resonance Imaging features of a series of 11 Spanish patients who carry mutations in the BICD2 gene
Carrera, MF; (...); Sevilla, T
Meeting Abstract. 2018
CLINICAL AND MAGNETIC RESONANCE IMAGING FEATURES OF THREE NOVEL MUTATIONS IN THE BICD2 GENE
Frasquet, M; (...); Sevilla, T
Meeting Abstract. 2017
Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia
Vázquez-Costa JF; (...); Sevilla T
Article. 10.3109/21678421.2015.1112407. 2016
Clinical and therapeutic features of myasthenia gravis in adults based on age at onset.
Cortés-Vicente E; (...); Illa I
Article. 10.1212/WNL.0000000000008903. 2020
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 characteristics and outcomes of thymoma associated myasthenia gravis.
Álvarez-Velasco R; (...); Cortés-Vicente E
Article. 10.1111/ene.14820. 2021
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 guidelines for late-onset Pompe disease.
Barba-Romero MA; (...); Vilchez-Padilla JJ
Article. 10.33588/rn.5408.2012088. 2012
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.
Peterle E; (...); Angelini C
Article. 10.1007/s00415-013-6931-1. 2013
Clinical profile of motor neuron disease patients with lower urinary tract symptoms and neurogenic bladder
Vazquez-Costa, JF; (...); Sevilla, T
Article. 10.1016/j.jns.2017.04.053. 2017
CLINICAL TRIALS IN NEONATOLOGY: IS IT EASY TO CARRY THEM OUT?
Serrano-Millan, C.; (...); Izquierdo, I.
Meeting Abstract. 2016
Clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy.
Argente-Escrig H; (...); Menezes MP
Article. 10.1212/WNL.0000000000011054. 2021
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia
Rodriguez-Lopez, C; (...); Dominguez-Gonzalez, C
Article. 10.1136/jmedgenet-2019-106649. 2020
CMT genetic distribution in Spanish TREAT-CMT consortium
Sivera, R.; (...); Sevilla, T.
Meeting Abstract. 2015
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
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V; (...); Lochmüller H
Article. 10.1007/s00415-011-6262-z. 2012
Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy.
Nascimento Osorio A; (...); Vilchez Padilla JJ
Article. 10.1016/j.nrl.2018.01.001. 2019
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
Contribution of the NGS analysis to the hyperCKemia
Marti, P; (...); Vilchez, J
Meeting Abstract. 10.1016/j.nmd.2017.06.372. 2017
Co-ocurrence of myasthenia gravis with Parkinson's disease: A not to be missed diagnosis
Tung-Chen Y; (...); López-Aldeguer J
Letter. 10.1111/ggi.12558. 2016
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D; (...); Díaz-Manera J
Correction. 10.1007/s00415-023-12178-z. 2024
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
CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2.
Poyatos-Garcia, Javier; (...); Vilchez, Juan Jesus
Article. 10.1016/j.omtn.2023.01.004. 2023
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
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
Lupo, V; (...); SEVILLA, T
Article. 10.1136/jmedgenet-2018-105650. 2018
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations
Sancho, P; (...); Espinos, C
Article. 10.1093/hmg/ddz006. 2019
Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.
Vazquez-Costa, Juan F.; (...); Garcia-Redondo, Alberto
Article. 10.1111/ene.15661. 2022
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain
Sivera R; (...); Sevilla T
Article. 10.1111/ene.15001. 2021
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
Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model
Poyatos-Garcia, Javier; (...); Vilchez, Juan J
Article. 10.1186/s13395-024-00353-3. 2024
DEMOGRAPHICS AND TREATMENT PATTERNS FOR CHARCOT-MARIE-TOOTH DISEASE IN THE EU AND US: INTERIM RESULTS FROM AN INTERNATIONAL DIGITAL REAL-WORLD STUDY
Ziemssen, T.; (...); Larkin, M.
Meeting Abstract. 2019
DEPRESSION IN PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A): FINDINGS FROM A REAL-WORLD DIGITAL STUDY
Thomas, Florian; (...); Boutalbi, Youcef
Meeting Abstract. 2022
DESCRIPTION OF A CLUSTER OF PATIENTS WITH THE HSPB1 P.R140G MUTATION
Frasquet, M.; (...); Sevilla, T.
Meeting Abstract. 2016
Description of a series of Spanish patients carrying the HSPB1 p.r140g mutation
Carrera, MF; (...); Mantecon, MTS
Meeting Abstract. 2017
Design of a Phase 2, Randomized, Double-Blind, Placebo-Controlled, 24-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects with Facioscapulohumeral Muscular Dystrophy (FSHD): ReDUX4
Tawil, A; (...); Cadavid, D
Meeting Abstract. 2020
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
Diagnostic yield of an NGS panel of muscle genes in a Reference Unit in Neuromuscular Diseases
Marti, P; (...); Vilchez, J. J.
Meeting Abstract. 2020
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Topf, Ana; (...); Straub, Volker
Article. 10.1038/s41588-023-01651-0. 2024
Disseminated toxoplasma infection after hematopoietic stem cell transplantation with myositis and encephalitis.
Asensi Cantó P; (...); Guerreiro M
Article. 10.1111/tid.14067. 2023
Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation.
Frasquet, Marina; (...); Lupo, Vincenzo
Article. 10.1111/ene.14700. 2021
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Sivera, R; (...); Sevilla, T
Article. 10.1038/s41598-017-06894-6. 2017
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
Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.
Gutiérrez-Rivas E; (...); Lukacs Z
Article. 2015
DRP2 mutations as a cause of Charcot Marie Tooth in Spain
Sivera, R.; (...); Sevilla, T.
Meeting Abstract. 2023
Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.
Cortes-Vicente, Elena; (...); Gallardo, Eduard
Article. 10.1002/acn3.51492. 2022
Dysferlin deficiency in patients with asymptomatic or paucisymptomatic hyperCKaemia
Marti, P.; (...); Vilchez, J.
Article. 2013
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion
Poyatos-Garcia, Javier; (...); Jesus Vilchez, Juan
Article. 10.1002/ana.26461. 2022
Early Referral to an ALS Center Reduces Several Months the Diagnostic Delay: A Multicenter-Based Study.
Martínez-Molina M; (...); Vázquez-Costa JF
Article. 10.3389/fneur.2020.604922. 2020
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
Effects of Spinal Cord Stimulation in Patients with Small Fiber and Associated Comorbidities from Neuropathy After Multiple Etiologies
Canos-Verdecho, Angeles; (...); Morales-Suarez-Varela, Maria
Article. 10.3390/jcm14020652. 2025
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
Ephedrine and 3,4 diaminopyridine responsive myasthenic syndrome in plectin-related epidermolysis bullosa simplex with muscular dystrophy
Argente-Escrig, H; (...); Vilchez, JJ
Meeting Abstract. 2017
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
European Federation of the Neurological Societies guidelines on the diagnostic approach to paucisymptomatic or asymptomatic hyperCKemia.
Kyriakides T; (...); Hilton-Jones D
Letter. 10.1002/mus.26777. 2020
Evaluacion de la sustancia negra mediante ultrasonografia transcraneal.
Vivo-Orti MN; (...); Burguera JA
Article. 10.33588/rn.5605.2012638. 2013
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
Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients.
Fernandez-Costa JM; (...); Artero RD
Article. 10.1093/hmg/dds478. 2013
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 Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Article. 10.1212/WNL.0000000000209174. 2024
Expanding the Genetic Landscape of Usher-Like Phenotypes.
Fuster-García C; (...); Millán JM
Article. 10.1167/iovs.19-27470. 2019
Expanding the molecular characterization of the CMT2Z disease associated gene MORC2
Sancho, P; (...); Espinos, C
Meeting Abstract. 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
Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin?
Vazquez-Costa, JF; (...); Sevilla, T
Article. 10.1080/21678421.2019.1582671. 2019
Family with a new mutation in the DES gene of autosomal recessive transmission
Marti, P; (...); Vilchez, J
Meeting Abstract. 10.1016/j.nmd.2018.06.299. 2018
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
GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1 MUTATIONS IN SPAIN, A NATIONWIDE STUDY
Sivera, R.; (...); Sevilla, T.
Meeting Abstract. 2016
Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene
Marti, S; (...); Torres, J
Editorial Material. 10.1016/j.scr.2016.11.017. 2017
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 and constitutional factors are major contributors to substantia nigra hyperechogenicity
Vazquez-Costa, JF; (...); Sevilla, T
Article. 10.1038/s41598-017-07835-z. 2017
Genetic diagnostic of inherited retinal dystrophies through clinical exome sequencing
Barberan-Martinez, Pilar; (...); Millan, Jose M.
Meeting Abstract. 2024
GENETIC DISTRIBUTION IN THE SPANISH TREAT-CMT CONSORTIUM
Barreiro, M.; (...); Sevilla, T.
Meeting Abstract. 2016
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 and phenotype spectrum of SORD neuropathy
Cortese, A; (...); SORD Nat Hist Study Grp
Meeting Abstract. 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
Genotype-phenotype correlations in recessive titinopathies.
Savarese M; (...); Udd B
Article. 10.1038/s41436-020-0914-2. 2020
Givinostat in DMD: results of the Epidys Study
Mercuri, E.; (...); McDonald, C.
Meeting Abstract. 10.1016/j.nmd.2022.07.223. 2022
GLOBAL TRANSCRIPTOME ANALYSES REVEAL A KEY ROLE FOR MORC2 IN THE AXONAL METABOLISM
Sancho, P; (...); Espinos, C
Meeting Abstract. 2017
Guidelines for genetic study of aniridia.
Blanco-Kelly F; (...); Ayuso C
Article. 10.1016/j.oftal.2012.07.006. 2013
Guidelines for monitoring late-onset Pompe disease
Gutieerrez-Rivas, E; (...); de Munain, AL
Article. 10.33588/rn.6007.2015029. 2015
HEALTHCARE RESOURCE USE IN CHARCOT-MARIE-TOOTH DISEASE IN THE EU AND US: INTERIM RESULTS FROM AN INTERNATIONAL DIGITAL REAL-WORLD STUDY
Ziemssen, T.; (...); Larkin, M.
Meeting Abstract. 2019
Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain.
de Frutos, Fernando; (...); Gonzalez-Costello, Jose
Article. 10.1016/j.rec.2024.12.012. 2025
Hereditary transthyretin amyloidosis caused by Val142Ile variant in Spain: phenotypic characteristics, geographic distribution and population frequency
Seminario, F. De Frutos; (...); Gonzalez-Costello, J.
Meeting Abstract. 10.1093/eurheartj/ehae666.2073. 2024
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
HNRNPDL-related limb girdle muscular dystrophy in a Spanish family with scapulo-peroneal phenotype, the first family in Europe
Vicente, LM; (...); VILCHEZ, JJ
Letter. 10.1016/j.jns.2020.116875. 2020
Human skeletal myopathy myosin mutations disrupt myosin head sequestration
Carrington, Glenn; (...); Ochala, Julien
Article. 2023
Human skeletal myopathy myosin mutations disrupt myosin head sequestration.
Carrington, Glenn; (...); Ochala, Julien
Article. 10.1172/jci.insight.172322. 2023
Identification of a novel gene involved in Charcot-Marie-Tooth disease
Sivera, R.; (...); Espinos, C.
Meeting Abstract. 2015
Immunoproteomic studies on paediatric opsoclonus-myoclonus associated with neuroblastoma
Torres-Vega E; (...); Bataller L
Article. 10.1016/j.jneuroim.2016.05.015. 2016
Impact of SARS-CoV-2 infection and COVID-19 pandemic on the morbidity and mortality of amyotrophic lateral sclerosis patients in Valencia, Spain
Garcia-Casanova, Pilar H.; (...); Vazquez-Costa, Juan F.
Article. 10.1111/ene.16465. 2024
Implication of the breakpoints position in patients with the macrodeletion of exons 45 to 55 in the DMD gene
Poyatos-Garcia, J; (...); Vilchez, JJ
Meeting Abstract. 2019
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 autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model
Bargiela A; (...); Artero R
Article. 10.1242/dmm.018127. 2015
Infection placentaria for malaria
Perez-Rojas, J; (...); Mayordomo, F
Article. 10.1016/j.sine.7013.10.007. 2015
Infections of the Central Nervous System after Untelated Donor Umbilical Cord Blood Transplantation or Human teukocyte Antigen-Matched Sibling Transplantation
Balaguer Rosello A; (...); Sanz, J
Article. 10.1016/j.bbmt.2016.10.005. 2017
Inflammatory amyloid angiopathy
Vazquez-Costa, JF; (...); Vilchez-Padilla, JJ
Letter. 10.1016/j.nrl.2012.06.004. 2014
Inflammatory amyloid angiopathy.
JUAN FRANCISCO VÁZQUEZ COSTA; (...); Vílchez-Padilla, J J
Article. 2012
Inflammatory myopathy related to Chikungunya virus: a case report
Muelas, N; (...); Vilchez, J
Meeting Abstract. 10.1016/j.nmd.2017.06.239. 2017
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
Influence of the intronic breakpoint of the DYS 45-55 exon deletion on the clinical phenotype
Poyatos, J; (...); Vilchez, J
Meeting Abstract. 10.1016/j.nmd.2018.06.270. 2018
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 phenotypic variability caused by GARS1 pathogenic variants.
Jiménez-Jiménez J; (...); Sivera R
Article. 10.1111/ene.16416. 2024
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
INTERNATIONAL, MULTI-CENTER, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED PHASE 3 STUDY ASSESSING IN PARALLEL GROUPS THE EFFICACY AND SAFETY OF 2 DOSES OF PXT3003 IN PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1A TREATED FOR 15 MONTHS
Attarian, S.; (...); Cohen, D.
Meeting Abstract. 2016
Intravitreal administration of adalimumab delays retinal degeneration in rd10 mice.
Olivares-González L; (...); Rodrigo R
Article. 10.1096/fj.202000044RR. 2020
IqYmune® is an effective maintenance treatment for multifocal motor neuropathy: a randomised, double-blind, multicenter cross-over non-inferiority study versus Kiovig® - The LIME Study.
Léger JM; (...); Merkies I
Article. 10.1111/jns.12291. 2019
ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.
Cabello-Murgui, Javier; (...); Sivera, Rafael
Article. 10.1111/ene.16485. 2024
JUNCTOPHILIN-1 EXPRESSION LEVELS COULD MODIFY THE EFFECTS OF GDAP1 MUTATIONS IN CHARCOT-MARIE-TOOTH DISEASE
Calpena, E.; (...); Espinos, C.
Meeting Abstract. 2015
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease
Pla-Martín D; (...); Espinós C
Article. 10.1093/hmg/ddu440. 2015
KY mutations are a cause of distal neuromyopathies
Muelas, N.; (...); Vilchez, J.
Meeting Abstract. 2023
Late clinical and radiological complications of stereotactical radiosurgery of arteriovenous malformations of the brain.
Parkhutik V; (...); Vazquez V
Article. 10.1007/s00234-012-1115-8. 2013
Late-onset Pompe disease presenting as asymptomatic hyperCKemia and early respiratory impairment
Vilchez, J. J.; (...); Martin, P.
Article. 2012
Lenalidomide induced reversible parkinsonism, dystonia, and dementia in subclinical Creutzfeldt-Jakob disease
Argente-Escrig, H; (...); Bataller, L
Letter. 10.1016/j.jns.2018.08.027. 2018
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Melià MJ; (...); Martí R
Article. 10.1093/brain/awt074. 2013
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
Longitudinally extensive transverse myelitis with AQP4 antibodies revealing ovarian teratoma.
Frasquet M; (...); Casanova B
Article. 10.1016/j.jneuroim.2013.07.003. 2013
Long-read sequencing for improving the characterization of rare inherited eye diseases
Rodilla, Cristina; (...); Ayuso, Carmen
Meeting Abstract. 2024
Long-term follow up of patients with dystrophin deficiency and isolated hyperCKemia
Marti, P; (...); Vilchez, J.
Article. 2015
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations
Natera-de Benito D; (...); Nascimento A
Article. 10.1016/j.nmd.2015.10.013. 2016
Long-term follow-up of patients with dystrophin deficiency and isolated hyperCKemia
Marti, P.; (...); Vilchez, J. J.
Meeting Abstract. 2015
Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: a retrospective study.
Querol L; (...); Illa I
Article. 10.1002/mus.23843. 2013
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
Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study.
Losada Lopez, Ines; (...); Setaro, Francesca
Article. 10.3390/jcm13247587. 2024
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy
Campbell, C; (...); Clinical Evaluator Training Grp
Article. 10.2217/cer-2020-0095. 2020
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
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
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
Marco-Hernández AV; (...); Martínez-Castellano F
Article. 10.1111/cge.14093. 2022
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
Molecular characterization of congenital myasthenic syndromes in Spain
Natera-de Benito, D; (...); Nascimento, A
Article. 10.1016/j.nmd.2017.08.003. 2017
MOLECULAR DIAGNOSIS OF INHERITED PERIPHERAL NEUROPATHIES: GENE PANEL VS. EXOME SEQUENCING
Lupo, V; (...); Espinos, C
Meeting Abstract. 2017
Molecular diagnosis of inherited peripheral neuropathies: gene panel vs. exome sequencing
Lupo, V; (...); Espinos, C
Meeting Abstract. 2018
Msi2 enhances muscle dysfunction in a myotonic dystrophy type 1 mouse model.
Sabater-Arcis, Maria; (...); Artero, Ruben
Article. 10.1016/j.bj.2023.100667. 2023
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
Díaz-Manera J; (...); Illa I
Article. 10.1016/j.nmd.2015.10.001. 2016
Muscle MRI and CT help to differentiate between mutations in emerin and lamin A/C gene in patients with Emery Dreifuss clinical phenotypes
Diaz-Manera, J.; (...); Illa, I.
Meeting Abstract. 10.1016/j.nmd.2014.06.173. 2014
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Alonso-Jimenez, A; (...); Diaz-Manera, J
Article. 10.1136/jnnp-2018-319578. 2019
Muscle MRI-phenotyping of patients with likely pathogenic anoctamin 5 variants
Poulsen, N.; (...); Vissing, J.
Meeting Abstract. 10.1016/j.nmd.2024.07.187. 2024
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 MME cause autosomal recessive late-onset CMT type-2 disease
Carrera, MF; (...); Sevilla, T
Meeting Abstract. 2018
MUTATIONS IN MORC2 GENE CAUSE AXONAL CHARCOT-MARIE-TOOTH DISEASE
Sancho, P.; (...); Espinos, C.
Meeting Abstract. 2016
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
Article. 10.1093/brain/awv311. 2016
Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle.
Laitila, Jenni; (...); Ochala, Julien
Article. 10.1113/JP286870. 2024
Myosin dysregulation in nemaline myopathy
Laitila, J.; (...); Ochala, J.
Article. 10.1016/j.nmd.2022.07.017. 2022
Nasal ciliary beat frequency and beat pattern in retinal ciliopathies.
Armengot M; (...); Cortijo J
Article. 10.1167/iovs.11-8666. 2012
NATURAL HISTORY STUDY OF SORD NEUROPATHY
Cortese, Andrea; (...); Zuchner, Stephan
Meeting Abstract. 2022
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
Ranu, Natasha; (...); Ochala, Julien
Article. 10.1186/s40478-022-01491-9. 2023
Netrin-1 receptor antibodies in thymoma-associated neuromyotonia with myasthenia gravis
Torres-Vega, E; (...); Bataller, L
Article. 10.1212/WNL.0000000000003778. 2017
New developments and data highlights in the international myotubular and centronuclear myopathy patient registry
Laitila, J.; (...); Ochala, J.
Meeting Abstract. 10.1016/j.nmd.2022.07.018. 2022
New insights into the pathophysiology of fasciculations in amyotrophic lateral sclerosis: An ultrasound study
Vazquez-Costa, JF; (...); Sevilla, T
Article. 10.1016/j.clinph.2018.09.014. 2018
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
Noninfectious Neurologic Complications after Allogeneic Hematopoietic Stem Cell Transplantation
Balaguer-Rosello, A; (...); Sanz, Jaime
Article. 10.1016/j.bbmt.2019.05.024. 2019
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 GAMMA CARBOXYLASE GENE CAUSING VKCFD1
Angeles Dasi, M.; (...); Corral, J.
Meeting Abstract. 2014
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/-Cardiac Myosin (MYH7) Distal Myopathy
Lamont PJ; (...); Laing NG
Article. 10.1002/humu.22553. 2014
Nusinersen in adult patients with 5q spinal muscular atrophy: Amulticenter observational cohorts' study.
Vazquez-Costa, Juan F.; (...); Hervas, David
Article. 10.1111/ene.15501. 2022
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
Onasemnogene Abeparvovec Administration via Peripherally Inserted Central Catheter: A Case Report.
Pitarch Castellano, Inmaculada; (...); Poveda Andres, Jose L
Case Reports. 10.3390/children11050590. 2024
Outcome of patients with sustained hyperCKemia after statin treatment
Muelas, N; (...); Vilchez, JJ
Meeting Abstract. 2019
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
Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study.
Thomas, Florian P.; (...); Boutalbi, Youcef
Review. 10.2217/nmt-2020-0044. 2021
PATIENT-REPORTED SYMPTOM BURDEN OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A): FINDINGS FROM A REAL-WORLD DIGITAL STUDY
Thomas, Florian; (...); Boutalbi, Youcef
Meeting Abstract. 2022
Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study.
Thomas, Florian P; (...); Boutalbi, Youcef
Article. 10.1097/CND.0000000000000426. 2022
PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.
González-Romero E; (...); Vázquez-Manrique RP
Article. 10.3390/cancers15174263. 2023
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
Argente-Escrig H; (...); Sevilla T
Article. 10.1002/acn3.51432. 2021
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum
Panades-de Oliveira, L; (...); Dominguez-Gonzalez, C
Article. 10.1007/s00415-020-09872-7. 2020
Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.
de Frutos, Fernando; (...); Garcia-Pavia, Pablo
Article. 10.1080/13506129.2022.2142110. 2022
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G > A mutation
Frasquet M; (...); Sevilla T
Letter. 10.1136/jnnp-2015-312890. 2016
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up
Natera-de Benito D; (...); Vilchez JJ
Article. 10.1016/j.nmd.2016.08.005. 2016
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene
Frasquet, M; (...); Sevilla, T
Article. 10.1016/j.jns.2018.02.021. 2018
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
Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients
Soldevilla, B; (...); Cuezva, JM
Article. 10.1371/journal.pone.0178376. 2017
PLASMA-METABOLITE AND SKIN-PROTEIN SIGNATURES OF CHARCOT-MARIE-TOOTH 1A PROVIDE MOLECULAR MARKERS OF DISEASE AND SUGGEST FUTURE THERAPEUTIC INTERVENTIONS
Soldevilla, B.; (...); Cuezva, J. M.
Meeting Abstract. 2016
Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome.
Argente-Escrig H; (...); Schröder R
Letter. 10.1111/nan.12652. 2020
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, a-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Servián-Morilla E; (...); Paradas C
Article. 10.1007/s00401-019-02117-6. 2020
Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy.
Cerro-Herreros, E; (...); Artero, R
Article. 10.1016/j.omtn.2021.07.017. 2021
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome
Vazquez-Costa, JF; (...); SEVILLA, T
Article. 10.3389/fnmol.2021.721047. 2021
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.
Bea-Mascato B; (...); Valverde D
Article. 10.3390/genes12020282. 2021
Primary Lateral Sclerosis and Hereditary Spastic Paraplegia in Sporadic Patients. An important distinction in descriptive studies
Vázquez-Costa JF, Bataller L, Vílchez JJ
Letter. 10.1002/ana.24671. 2016
PRODUCTIVITY LOSSES IN PEOPLE WITH CHARCOT-MARIE-TOOTH DISEASE IN THE EU AND US: INTERIM RESULTS FROM AN INTERNATIONAL DIGITAL REAL-WORLD EVIDENCE STUDY
Ziemssen, T.; (...); Larkin, M.
Meeting Abstract. 2019
Prognostic features of LGMD presenting as symptomatic or paucisymptomatic hyperCKemia
Marti, P; (...); Vilchez, J.
Article. 2015
Progress in the genetic diagnosis of inherited retinal dystrophies
Rodriguez-Munoz, A; (...); Jaijo, T
Meeting Abstract. 2018
PXT3003, A FIXED COMBINATION OF BACLOFEN, NALTREXONE AND SORBITOL, FOR THE TREATMENT OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A): STATUS OF A MULTICENTER, DOUBLE-BLIND, PLACEBO-CONTROLLED, PIVOTAL PHASE III STUDY (PLEO-CMT)
Attarian, S; (...); PLEO-CMT Study Grp
Meeting Abstract. 2017
Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice
Bargiela, Ariadna; (...); Artero, Ruben
Article. 10.1038/s41598-023-27661-w. 2023
Quantitative neuromuscular ultrasound analysis as biomarkers in amyotrophic lateral sclerosis
Rios-Diaz, J; (...); Martinez-Paya, JJ
Article. 10.1007/s00330-018-5943-8. 2019
Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.
Statland, Jeffrey M.; (...); Attie, Kenneth M.
Article. 10.1002/mus.27558. 2022
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
Real life experience of tafamidis for the treatment of Spanish patients with Val30Met transthyretin amyloidosis with polyneuropathy.
Sanso, Maria Antonia Ribot; (...); Gonzalez-Moreno, Juan
Article. 10.1016/j.medcli.2024.01.008. 2024
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
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
Risdiplam in non-sitter patients aged 16years and older with 5q spinal muscular atrophy.
Nungo Garzon, Nancy Carolina; (...); Vazquez-Costa, Juan F
Article. 10.1002/mus.27804. 2023
Role of the nigrosome 1 absence as a biomarker in amyotrophic lateral sclerosis
Isabel Moreno-Gambin, Maria; (...); Vázquez-Costa JF
Article. 10.1007/s00415-021-10729-w. 2021
Safety and efficacy of botulinum toxin A for the treatment of spasticity in amyotrophic lateral sclerosis: results of a pilot study
Vázquez-Costa JF; (...); Sevilla T
Article. 10.1007/s00415-016-8223-z. 2016
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Mercuri E; (...); McDonald CM
Article. 10.1016/S1474-4422(24)00036-X. 2024
Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.
Tawil R; (...); Jiang JG
Article. 10.1016/S1474-4422(24)00073-5. 2024
Safety and efficacy of nipocalimab in adults with generalised myasthenia gravis (Vivacity-MG3): a phase 3, randomised double-blind, placebo-controlled study
Antozzi, Carlo; (...); Sun, Hong
Article. 2025
Safety and Efficacy of Nipocalimab in Patients With Generalized Myasthenia Gravis: Results From the Randomized Phase 2 Vivacity-MG Study
Antozzi, Carlo; (...); Arroyo, Santiago
Article. 10.1212/WNL.0000000000207937. 2024
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
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
Kornak U; (...); Kurth I
Article. 10.1093/brain/awt357. 2014
SERUM AUTOANTIBODY LOWERING BY THE ANTI-FCRN MONOCLONAL ANTIBODY, NIPOCALIMAB, CORRELATES WITH CLINICAL IMPROVEMENT IN GENERALIZED MYASTHENIA GRAVIS PATIENTS
Guptill, Jeffrey; (...); Sun, Hong
Meeting Abstract. 2022
Small fiber neuropathy associated with copper deficiency
Ibanez, M. J.; (...); Vilchez, J. J.
Meeting Abstract. 2015
Spanish family with scapulo-peroneal myopathy due to HNRNPDL mutation: the first European family
Martinez Vicente, L.; (...); Vilchez, J. J.
Meeting Abstract. 2020
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 Pompe Registry: New data based on the 130 patients included
Marin, R. Martinez; (...); Manera, J. Diaz
Meeting Abstract. 2023
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain
Baviera-Munoz, Raquel; (...); Bataller, Luis
Article. 10.1002/mdc3.13740. 2023
Statin-induced myopathies: beyond immuno-mediated necrotizing myopathies
Muelas, MMN; (...); Vilchez, JJ
Meeting Abstract. 2018
Status of the pivotal phase III study of PXT3003 for Charcot-Marie-Tooth Type 1A disease (CMT1A)
Goedkoop, R; (...); Cohen, D
Meeting Abstract. 2018
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
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy
Evilä A; (...); Udd B
Article. 10.1007/s12035-016-0242-3. 2017
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort
Gutiérrez-Rivas E; (...); Lukacs Z
Article. 10.1016/j.nmd.2015.04.008. 2015
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet, Beatrice; (...); Kalatzis, Vasiliki
Article. 10.1172/jci.insight.169426. 2023
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
García-García G; (...); Roux AF
Article. 2013
The cross-sectional area of the median nerve: An independent prognostic biomarker in amyotrophic lateral sclerosis.
Martinez-Paya, J J; (...); Vazquez-Costa, J F
Article. 10.1016/j.nrleng.2024.07.003. 2024
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease
Article. 10.1111/ene.12782. 2015
The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis
Cortes-Vicente, E; (...); Illa, I
Article. 10.1002/acn3.564. 2018
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 mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection
Rodriguez-Mora, Sara; (...); Alcami, Jose
Article. 2019
The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection.
Rodríguez-Mora S; (...); Alcamí J
Article. 10.1371/journal.ppat.1007958. 2019
The natural history of HSJ1-related hereditary neuropathies: a case series of 9 patients with long-term follow-up
Frasquet Carrera, M.; (...); Sevilla, T.
Meeting Abstract. 2015
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 phenotype of POGLUT1 mutations: Broad clinical expression and distinctive muscle imaging pattern
Servian-Morilla, E; (...); Paradas, C
Meeting Abstract. 10.1016/j.nmd.2017.06.068. 2017
The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy
Thangarajh, M; (...); Ataluren Phase 2b Study Grp
Article. 10.1212/WNL.0000000000006245. 2018
The role of DNAJB2 in amyotrophic lateral sclerosis
Frasquet M, Vázquez-Costa JF, Sevilla T
Letter. 10.1093/brain/aww154. 2016
The role ofDNAJB2in amyotrophic lateral sclerosis
Marina Frasquet, Juan F. Vázquez-Costa, Teresa Sevilla
Article. 2016
The study of deep brain structures by transcranial duplex sonography and imaging resonance correlation.
Sahuquillo P; (...); Lago A
Article. 10.1016/j.ultrasmedbio.2012.09.008. 2013
The width of the third ventricle associates with cognition and behaviour in motor neuron disease
Vazquez-Costa, JF; (...); Sevilla, T
Article. 10.1111/ane.13022. 2019
Therapeutic potential of oleic acid supplementation in myotonic dystrophy muscle cell models.
Moreno, Nerea; (...); Artero, Ruben
Article. 10.1186/s40659-024-00496-z. 2024
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
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy
Buyse, GM; (...); DELOS Study Group
Article. 10.1002/ppul.23547. 2017
Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.
Alejaldre A; (...); Pichiecchio A
Article. 10.1016/j.nmd.2012.05.011. 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
Urodynamic findings in amyotrophic lateral sclerosis patients with lower urinary tract symptoms: Results from a pilot study
Arlandis, S; (...); Broseta, E
Article. 10.1002/nau.22976. 2017
Urodynamic findings in amyotrophic lateral sclerosis patients with lower urinary tract symptoms: Results from a pilot study.
Arlandis, Salvador; (...); Broseta, Enrique
Article. 2016
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
Use of NGS for diagnosis of asymptomatic hyperCKemia in childhood
Marti, P; (...); VILCHEZ, J
Meeting Abstract. 10.1016/j.nmd.2021.07.340. 2021
Usefulness of MRI in cases of hyperCKemia
Marti, P; (...); Vilchez, J
Meeting Abstract. 10.1016/j.nmd.2017.06.115. 2017
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: Genetics of a Human Ciliopathy
Fuster-García C; (...); García-García G
Review. 10.3390/ijms22136723. 2021
Validación de la versión española de la Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS).
Pitarch-Castellano I; (...); Burns J
Article. 10.33588/rn.7403.2021489. 2022
Validation of Neuromyotype: A smart keyboard for the evaluation of spinal muscular atrophy patients.
Cortes, P Lizandra; (...); Vázquez-Costa JF
Article. 10.1016/j.nrleng.2022.05.001. 2022
Vamorolone versus placebo and prednisone in Duchenne muscular dystrophy: results from a 24-week double-blind randomized trial
Guglieri, M; (...); Andres Sant Joan Deu Hosp
Meeting Abstract. 2021
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
VIVACITY-MG: A PHASE 2, MULTICENTER, RANDOMIZED, DOUBLE- BLIND, PLACEBO-CONTROLLED STUDY TO EVALUATE THE SAFETY, TOLERABILITY, EFFICACY, PHARMACO-KINETICS, PHARMACODYNAMICS, AND IMMUNOGENICITY OF NIPOCALIMAB ADMINISTERED TO ADULTS WITH GENERALIZED MYASTHENIA GRAVIS
Antozzi, Carlo; (...); Arroyo, Santiago
Meeting Abstract. 2023
Vivacity-MG: A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Nipocalimab Administered to Adults with Generalized Myasthenia Gravis
Guptill, Jeffrey; (...); Arroyo, Santiago
Meeting Abstract. 2021
What is wrong with nuclei in Transportin 3 (TPNO3)-related muscular dystrophy?
Curtis-Wetton, E; (...); Ochala, J
Meeting Abstract. 10.1016/S0960-8966(18)30315-8. 2018
WORK IMPACTS IN PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A): FINDINGS FROM A REAL-WORLD DIGITAL STUDY
Thomas, Florian; (...); Boutalbi, Youcef
Meeting Abstract. 2022