[HTML][HTML] Seven-year follow-up of durability and safety of AAV CNS gene therapy for a lysosomal storage disorder in a large animal
S Marcó, V Haurigot, ML Jaén, A Ribera… - … Therapy Methods & …, 2021 - cell.com
Delivery of adeno-associated viral vectors (AAVs) to cerebrospinal fluid (CSF) has emerged
as a promising approach to achieve widespread transduction of the central nervous system …
as a promising approach to achieve widespread transduction of the central nervous system …
[HTML][HTML] Longitudinal natural history of pediatric subjects affected with mucopolysaccharidosis IIIB
I Okur, F Ezgu, R Giugliani, N Muschol, A Koehn… - The Journal of …, 2022 - Elsevier
Objective To characterize the longitudinal natural history of disease progression in pediatric
subjects affected with mucopolysaccharidosis (MPS) IIIB. Study design Sixty-five children …
subjects affected with mucopolysaccharidosis (MPS) IIIB. Study design Sixty-five children …
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p. K298E mutation
FE Pozzi, V Aprea, G Giovannelli, F Lattuada… - Neurogenetics, 2024 - Springer
We present an in-depth clinical and neuroimaging analysis of a family carrying the MAPT
K298E mutation associated with frontotemporal dementia (FTD). Initial identification of this …
K298E mutation associated with frontotemporal dementia (FTD). Initial identification of this …
Reliability of Automated Intracranial Volume Measurements by Synthetic Brain MRI in Children
V Weiss, N Vishwanathan, A Dutschke, N Stranger… - Applied Sciences, 2024 - mdpi.com
(1) Background: Hydrocephalus poses challenges in pediatric neuroimaging, and
conventional MRI methods have limitations regarding its accurate quantification. Synthetic …
conventional MRI methods have limitations regarding its accurate quantification. Synthetic …
[PDF][PDF] Seven-year follow-up of durability and safety of AAV CNS gene therapy for a lysosomal storage disorder in a large animal
G Elias, M Navarro, A Carretero, M Pumarola… - academia.edu
Delivery of adeno-associated viral vectors (AAVs) to cerebrospinal fluid (CSF) has emerged
as a promising approach to achieve widespread transduction of the central nervous system …
as a promising approach to achieve widespread transduction of the central nervous system …
Nöropsikiyatrik semptomlarla başvuran mukopolisakkaridoz olguları
F Erdem, MY Çelik, AY Yanbolu, E Canda… - … Sağlık Bilimleri Dergisi - dergipark.org.tr
Amaç: Mukopolisakkaridozlar (MPS); glikozaminoglikanların (GAG) lizozom içerisinde
yıkılamaması sonucu çoklu sistem tutulumlarına neden olan heterojen bir hastalık grubudur …
yıkılamaması sonucu çoklu sistem tutulumlarına neden olan heterojen bir hastalık grubudur …