Therapeutic landscape for Batten disease: current treatments and future prospects
TB Johnson, JT Cain, KA White… - Nature Reviews …, 2019 - nature.com
Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of
devastating lysosomal storage disorders that collectively represent the most common …
devastating lysosomal storage disorders that collectively represent the most common …
Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA
S Worgall, D Sondhi, NR Hackett, B Kosofsky… - Human gene …, 2008 - liebertpub.com
Late infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive,
neurodegenerative lysosomal storage disease affecting the CNS and is fatal by age 8 to 12 …
neurodegenerative lysosomal storage disease affecting the CNS and is fatal by age 8 to 12 …
[HTML][HTML] Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
M Fietz, M AlSayed, D Burke, J Cohen-Pfeffer… - Molecular genetics and …, 2016 - Elsevier
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage
disorders. NCLs include the rare autosomal recessive neurodegenerative disorder neuronal …
disorders. NCLs include the rare autosomal recessive neurodegenerative disorder neuronal …
Gene therapy for late infantile neuronal ceroid lipofuscinosis: neurosurgical considerations
MM Souweidane, JF Fraser, LM Arkin… - Journal of …, 2010 - thejns.org
Object The authors conducted a phase I study of late infantile neuronal ceroid lipofuscinosis
using an adenoassociated virus serotype 2 (AAV2) vector containing the deficient CLN2 …
using an adenoassociated virus serotype 2 (AAV2) vector containing the deficient CLN2 …
Volumetric description of brain atrophy in neuronal ceroid lipofuscinosis 2: supratentorial gray matter shows uniform disease progression
U Löbel, J Sedlacik, M Nickel… - American Journal …, 2016 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Experimental therapies for ceroid lipofuscinosis, neuronal,
2 (CLN2), a genetic disorder of childhood associated with progressive brain atrophy, are …
2 (CLN2), a genetic disorder of childhood associated with progressive brain atrophy, are …
Differential diagnosis of normal pressure hydrocephalus by MRI mean diffusivity histogram analysis
M Ivkovic, B Liu, F Ahmed, D Moore… - American Journal …, 2013 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Accurate diagnosis of normal pressure hydrocephalus is
challenging because the clinical symptoms and radiographic appearance of NPH often …
challenging because the clinical symptoms and radiographic appearance of NPH often …
Arterial spin labeling and altered cerebral blood flow patterns in the minimally conscious state
Objective: To use arterial spin labeling (ASL) to compare cerebral blood flow (CBF) patterns
in minimally conscious state (MCS) patients with those in normal controls in an …
in minimally conscious state (MCS) patients with those in normal controls in an …
Gray matter growth is accompanied by increasing blood flow and decreasing apparent diffusion coefficient during childhood
ND Forkert, MD Li, RM Lober… - American Journal of …, 2016 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Normal values of gray matter volume, cerebral blood flow,
and water diffusion have not been established for healthy children. We sought to determine …
and water diffusion have not been established for healthy children. We sought to determine …
Prognostic Value of Quantitative Diffusion‐Weighted MRI in Patients with Traumatic Brain Injury
ABSTRACT BACKGROUND AND PURPOSE Data about the predictive value of quantitative
diffusion‐weighted MRI in traumatic brain injury (TBI) patients is lacking. This study aimed to …
diffusion‐weighted MRI in traumatic brain injury (TBI) patients is lacking. This study aimed to …
Assessment of disease severity in late infantile neuronal ceroid lipofuscinosis using multiparametric MR imaging
BACKGROUND AND PURPOSE: LINCL is a uniformly fatal lysosomal storage disease
resulting from mutations in the CLN2 gene that encodes for tripeptidyl peptidase 1, a …
resulting from mutations in the CLN2 gene that encodes for tripeptidyl peptidase 1, a …