A precise approach for nucleoside-based therapy of neuromuscular disorders with defects in mitochondrial DNA.
Genes y biomarcadores en la necrosis estriatal bilateral de la niñez
Papel causal y modificador de la vía de señalización Notch en las distrofias musculares: estudioespecífico con relación a mutaciones en genes POGLUT1, DMD y TRIM32
Neurodegeneration with Brain Iron Accumulation: Clinical Assessment and Genetic Characterization by means of a Spanish Multi-Centre Research Network.
Estudio de componentes genéticos implicados en la elasticidad neuronal en el síndrome de Tourette
EMTICS
Observational, multicentre, randomised, double-blinded, placebo-controlled trial of efficacy of amoxicilline/clavulanic acid in patients affected by tic disorder colonized by GAS
Elasticidad neuronal en el síndrome de Tourette
Predominación recíproca entre psicopatología y avance en pequeños clasificados de peligro neurosensorial al nacimiento: rastreo hasta el comienzo de la escolarización obligatoria
App de la tecnología de microrrays y MLPA a la identificación de nuevos loci relacionados con el Retardo Mental de causa genética
Genética de las conmociones febriles en Andalucía
Atención centrada en el avance de pequeños de prominente peligro de discapacidad para la prevención de modificaciones neuro-conductuales, cognitivas y del lenguaje a lo largo de la etapa anterior a la escuela: Predominación de un ambiente conveniente
TIC GENETICS
PORYECTOS DE I+D+i
Historia natural de la Atrofia Muscular Espinal: estudio observacional de rastreo en pacientes con Atrofia Muscular Espinal
A TWO PART SEAMLESS, OPEN-LABEL, MULTICENTER STUDY TO INVESTIGATE THE SAFETY, TOLERABILITY, PHARMACOKINETICS, PHARMACODYNAMICS AND EFFICACY OF RO7034067 IN INFANTS WITH TYPE 1 SPINAL MUSCULAR ATROPHY
A two part seamless multi-center randomized placebo-controlled, double-blind study to investigate the safety, tolerability, pharmacokinetics, pharmacodynamics and efficacy of RO7034067 in type 2 and 3 spinal muscular atrophy patients
Evaluación neurológica y neuropsicológica tras encefalitis por virus herpes fácil. Estudio prospectivo-retrospectivo
An open-label, multi-center, expanded acces study of RAD001 in patients with subependymal giant cell astrocytomas (SEGA) associated with Tuberous Sclerosis Complex (TSC). The effects study Everolimus for fast expanded access in TSC SEGA
NPC registry
Estudio observacional retrospectivo sobre los patrones de utilización de carbamazepina y oxcarbazepina en pacientes con epilepsia parcial en España
The effects of Nitric Oxide for Inhalation on the Development of Chronic Lung Disease in Preterm Infants
ALGUNAS PUBLICACIONES EN LIBROS Y REVISTAS CIENTÍFICAS
New insights into brain abnormalities and disease progression. PARKINSONIMS AND RELATED DISORDERS.
European Multicentre Tics in Children Studies (EMTICS): protocol for two cohort studies to assess risk factors for tic onset and exacerbation in children and adolescents.
Analysis of shared heritability in common disorders of the brain.
Consenso para el diagnostic, régimen y rastreo del tolerante con Distrofia Muscular de Duchenne.
Retrospective natural history of thymidine kinase 2 deficiency.
Síndrome de West criptogénico: perfil clínico, contestación al régimen y causantes pronósticos.
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
Pre- and perinatal compliactions in relation to Tourette syndrome and co-ocurring obsessive-compulisve disorder and attention-deficit/hyperactivity disorder.
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.
Unusual complication in a paediatric patient: Wernicke encephalopathy associated with thiamine-deficient parenteral nutrition.
Pablo Mir. Aberrant cortical associative plasticity associated with severe adult Tourette syndrome. Movement disorders : official journal of the Movement Disorder Society.
The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods
