Inmaculada Pitarch Castellano
Biographic Data
| ID | 8257484 |
|---|---|
| NAME | Inmaculada Pitarch Castellano |
| GIVEN NAMES | Inmaculada Pitarch |
| FAMILY NAME | Castellano |
| SIGNATURE | CASTELLANO I P |
| AFFILIATIONS | Instituto de Investigación de Enfermedades Raras |
| ORCID | 0000-0002-3864-7374 |
| VERIFIED | Yes |
| TOTAL WORKS | 2 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 2 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2023 |
| LATEST PUBLICATION YEAR | 2025 |
| H-INDEX | 0 |
Neurofilaments as Biomarkers of the Efficacy of Risdiplam Treatment in Early SMA Phenotypes Diagnosed by Newborn Screening
Risdiplam is an orally administered small molecule that modifies the mRNA splicing of SMN2 for the treatment of spinal muscular atrophy (SMA). Its use is approved in presymptomatic patients diagnosed by neonatal screening with early and severe forms with two copies of SMN2, but we do not have real data on the evolution of oral treatment in this early phenotype of SMA. We present two cases treated at one month of life with a follow-up of 12 months…
Pain in Children and Adolescents with Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a devastating genetic neurodegenerative disease caused by the insufficient production of Survival Motor Neuron (SMN) protein. It presents different phenotypes with frequent contractures and dislocations, scoliosis, and pain. This study aims to report the prevalence and description of pain and how it affects daily life by analyzing a new ad hoc questionnaire. An observational study of patients under 18 years of age…
No prominent works on this page.
Pain in Children and Adolescents with Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a devastating genetic neurodegenerative disease caused by the insufficient production of Survival Motor Neuron (SMN) protein. It presents different phenotypes with frequent contractures and dislocations, scoliosis, and pain. This study aims to report the prevalence and description of pain and how it affects daily life by analyzing a new ad hoc questionnaire. An observational study of patients under 18 years of age…
Neurofilaments as Biomarkers of the Efficacy of Risdiplam Treatment in Early SMA Phenotypes Diagnosed by Newborn Screening
Risdiplam is an orally administered small molecule that modifies the mRNA splicing of SMN2 for the treatment of spinal muscular atrophy (SMA). Its use is approved in presymptomatic patients diagnosed by neonatal screening with early and severe forms with two copies of SMN2, but we do not have real data on the evolution of oral treatment in this early phenotype of SMA. We present two cases treated at one month of life with a follow-up of 12 months…
Medicine (2 works) · Neurogenetic and Muscular Disorders Research (2 works) · SMA (2 works) · Activities of daily living (1 work) · Biology (1 work) · Cardiac Structural Anomalies and Repair (1 work) · Computer Science (1 work) · Congenital Anomalies and Fetal Surgery (1 work) · Disease (1 work) · Gene (1 work)