Jesús Esteban Pérez
Key information
- Association of variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis.
Professional Details
Hospital Ruber Internacional
SPECIALIST PHYSICIAN NEUROLOGY
August 1995
Hospital Universitario 12 de Octubre
Director of ALS Unit
January 2006
Hospital Universitario 12 de Octubre
Specialist doctor
January 1995
Mass Gen Hospital
Research Fellow
January 1992
Centro Nacional de Investigación Clínica. ISCIII
Specialist doctor
January 1990
Specialized Healthcare Training
Neurology Specialist
hospital
Another qualification
Research Fellow (Grant FIS 92/5768)
laboratory
Another qualification
Master in neurological electrodiagnostics
university
Another qualification
EMG Training Certification
NEW BIOMARKERS IN ALS: SOMATIC MUTATIONS, NEUROINFLAMMATION AND RNA METABOLISM (I)
Development of a diagnostic molecular algorithm in patients with Amyotrophic Lateral Sclerosis and Frontotemporal Lobular Degeneration.
DESIGN AND DEVELOPMENT OF INNOVATIVE DRUGS FOR THE TREATMENT OF AMYOTROPHIC LATERAL SCLEROSIS.
STUDY OF BIOMARKERS IN THE PATHOLOGICAL CONTINUUM EXISTING BETWEEN AMYOTROPHIC LATERAL SCLEROSIS (ALS) AND FRONTOTEMPORAL LOBULAR DEGENERATION (FTLD) - I.
Association of variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis.
Journal Article
Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.
Journal Article
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
Journal Article
Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
Journal Article
Pathogenic Huntington Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Journal Article
SOD1 mutations in adult onset distal Spinal Muscular Atrophy.
Journal Article
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