[HTML][HTML] Neuronal ceroid lipofuscinosis: the multifaceted approach to the clinical issues, an overview

A Simonati, RE Williams - Frontiers in neurology, 2022 - frontiersin.org
The main aim of this review is to summarize the current state-of-art in the field of childhood
Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders. These …

[HTML][HTML] Gait phenotype in Batten disease: a marker of disease progression

JR Ostergaard - European Journal of Paediatric Neurology, 2021 - Elsevier
Background Gait impairment and its etiologic correlate has not previously been subject of
special attention in Batten disease. Methods In the present review, the clinical picture of gait …

Structural brain connectivity correlates with outcome in mild traumatic brain injury

T Roine, M Mohammadian, J Hirvonen… - Journal of …, 2022 - liebertpub.com
We investigated the topology of structural brain connectivity networks and its association
with outcome after mild traumatic brain injury, a major cause of permanent disability. Eighty …

Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations

S Panjeshahi, P Karimzadeh, A Movafagh… - Human Genetics, 2023 - Springer
Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative lysosomal storage diseases
which are considered among the most frequent causes of dementia in childhood worldwide …

[HTML][HTML] Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses

JR Ostergaard, HR Nelvagal, JD Cooper - Frontiers in Neurology, 2022 - frontiersin.org
Background The Neuronal Ceroid Lipofuscinoses (NCLs) may be considered distinct
neurodegenerative disorders with separate underlying molecular causes resulting from …

Topological Structural Brain Connectivity Alterations in Aspartylglucosaminuria: A Case-Control Study

U Roine, AM Tokola, T Autti… - American Journal of …, 2023 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: We investigated global and local properties of the
structural brain connectivity networks in aspartylglucosaminuria, an autosomal recessive …

[PDF][PDF] Influence of tractogram filtering in analysis of tractography data in rat brains

F MASCHIO - 2022 - thesis.unipd.it
Neuronal disorders could result in changes at brain connectomics level. One of the main
goal of structural connectomics analysis deals with the possibility to detect the changes at …