A5043556422- Epilepsy research and treatment
- Muscle Physiology and Disorders
- Nanoparticle-Based Drug Delivery
- Genomics and Rare Diseases
- Autoimmune Neurological Disorders and Treatments
- Genetics and Neurodevelopmental Disorders
- Glioma Diagnosis and Treatment
- Fetal and Pediatric Neurological Disorders
- Neonatal and fetal brain pathology
- Myasthenia Gravis and Thymoma
- Migraine and Headache Studies
- Systemic Sclerosis and Related Diseases
- Facial Nerve Paralysis Treatment and Research
- Neuroscience and Neural Engineering
- Tuberous Sclerosis Complex Research
- RNA Interference and Gene Delivery
- Graphene and Nanomaterials Applications
- Peripheral Neuropathies and Disorders
- Neuroscience and Neuropharmacology Research
- Genomic variations and chromosomal abnormalities
- Psychosomatic Disorders and Their Treatments
- Moyamoya disease diagnosis and treatment
- Parvovirus B19 Infection Studies
- 3D Printing in Biomedical Research
- Metabolism and Genetic Disorders
Carol Davila University of Medicine and Pharmacy
2016-2025
Spitalul Clinic Dr. Victor Babes
2015-2025
Abstract SNURPORTIN-1, encoded by SNUPN , plays a central role in the nuclear import of spliceosomal small ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic biallelic variants, predominantly clustered last coding exon, are ascertained to segregate disease. We demonstrate that mutant SPN1 failed oligomerize...
Abstract Alterations in RNA-splicing are a molecular hallmark of several neurological diseases, including muscular dystrophies, where mutations genes involved RNA metabolism or characterized by alterations splicing have been described. Here, we present five patients from two unrelated families with limb-girdle dystrophy (LGMD) phenotype carrying biallelic variant SNUPN gene. Snurportin-1, the protein encoded SNUPN, plays an important role nuclear transport small ribonucleoproteins (snRNPs),...
Background and Clinical Significance: Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune demyelinating of the central nervous system, characterized by presence aquaporin-4 (AQP4) antibodies high relapse rate. We provide information about diagnosis, unusual symptoms, treatment paediatric patient with NMOSD. Case presentation: A 14-year-old girl was hospitalized for weakness paraesthesia lower limbs (LL). The underwent detailed investigations diagnosed NMOSD cryptogenic...
The transition from pediatric to adult care in Duchenne Muscular Dystrophy (DMD) is challenging due the disease's complexity and need for lifelong, comprehensive management. In Romania, ongoing efforts aim enhance multidisciplinary collaboration, though systemic barriers, such as fragmented healthcare services, persist. Nonsense mutations, including those exon 30 described here, are often associated with more severe disease progression. We present case of a 17-year-old Romanian DMD patient...
Objective To understand the etiological landscape and phenotypic differences between 2 developmental epileptic encephalopathy (DEE) syndromes: DEE with spike–wave activation in sleep (DEE‐SWAS) (EE‐SWAS). Methods All patients fulfilled International League Against Epilepsy (ILAE) DEE‐SWAS or EE‐SWAS criteria a Core cohort (n = 91) drawn from our Genetics research program, together 10 etiologically solved referred by collaborators Expanded 101). Detailed phenotyping analysis of molecular...
There is great interest in the development of prosthetic limbs capable complex activities that are wirelessly connected to patient’s neural system. Although some progress has been achieved this area, one main problems encountered selective acquisition nerve impulses and closing automation loop through stimulation sensitive branches patient. Large-scale research have so-called “cuff electrodes”; however, they present a big disadvantage: not selective. In article, we made an implantable system...
Early-onset developmental epileptic encephalopathy (DEE) refers to an age-specific, diverse group of epilepsy syndromes with electroclinical anomalies that are associated severe cognitive, behavioral, and impairments. Genetic DEEs have heterogeneous etiologies. This study includes 36 Romanian patients referred the Regional Centre for Medical Genetics Dolj genetic testing between 2017 2020. The had been admitted clinically evaluated at Doctor Victor Gomoiu Children’s Hospital Prof. Dr....