Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia
FZ Alkhars, AYB Ali, MA Almohanna… - Neurosciences …, 2020 - nsj.org.sa
Neuronal ceroid lipofuscinoses (NCLs) are the most common group of neurodegenerative
diseases that presents in childhood and are characterized by seizures and progressive …
diseases that presents in childhood and are characterized by seizures and progressive …
The neuronal ceroid lipofuscinoses-linked loss of function CLN5 and CLN8 variants disrupt normal lysosomal function
S Parvin, M Rezazadeh, H Hosseinzadeh… - NeuroMolecular …, 2019 - Springer
Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders caused
by mutations in fourteen distinct ceroid lipofuscinoses, neuronal (CLN) genes described with …
by mutations in fourteen distinct ceroid lipofuscinoses, neuronal (CLN) genes described with …
[HTML][HTML] A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21. 33-q31. 1 in a Chinese patient with neuronal ceroid lipofuscinosis type …
W Li, X Fan, Y Zhang, L Huang, T Jiang, Z Qin… - BMC Medical …, 2020 - Springer
Background Neuronal ceroid lipofuscinosis type 5 (CLN5) is a rare form of neuronal ceroid
lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases …
lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases …
Two novel CLN6 mutations in variant late‐infantile neuronal ceroid lipofuscinosis patients of Turkish origin
E Siintola, M Topcu, A Kohlschütter, T Salonen… - Clinical …, 2005 - Wiley Online Library
Neuronal ceroid lipofuscinoses (NCLs) are the most common neurodegenerative childhood‐
onset disorders characterized by autosomal recessive inheritance, epileptic seizures …
onset disorders characterized by autosomal recessive inheritance, epileptic seizures …
[HTML][HTML] Functional analysis of a novel CLN5 mutation identified in a patient with neuronal ceroid lipofuscinosis
S Luo, B Bi, B Zhu, L Tan, P Zhao, Y Huang… - Frontiers in …, 2020 - frontiersin.org
Neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive inherited
neurodegenerative disorders mainly affecting children, and at least 13 causative genes …
neurodegenerative disorders mainly affecting children, and at least 13 causative genes …
Clinical and molecular characteristics of neuronal ceroid lipofuscinosis in Saudi Arabia
ABSTRACT BACKGROUND Neuronal ceroid lipofuscinoses (NCLs) represent a
heterogeneous group of inherited metabolic lysosomal disorders characterized by …
heterogeneous group of inherited metabolic lysosomal disorders characterized by …
Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia
MA Al-Muhaizea, ZN Al-Hassnan, A Chedrawi - Pediatric neurology, 2009 - Elsevier
Variant late infantile neuronal ceroid lipofuscinosis is one of the multiethnically prevalent
types of neuronal ceroid lipofuscinoses. Reported here are three families representing the …
types of neuronal ceroid lipofuscinoses. Reported here are three families representing the …
[HTML][HTML] CLN genes mutational analysis in a sample of Egyptian patients
MM Refeat, SS Zaki, AS Gouda, AA Radwan… - Middle East Journal of …, 2019 - mxe.eg.net
Background Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of
autosomal recessive lysosomal neurodegenerative disorders, with a worldwide incidence of …
autosomal recessive lysosomal neurodegenerative disorders, with a worldwide incidence of …
[HTML][HTML] Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis
The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders
characterized by epilepsy, visual failure, progressive mental and motor deterioration …
characterized by epilepsy, visual failure, progressive mental and motor deterioration …
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis
K Reinhardt, M Grapp, K Schlachter, W Brück… - Clinical …, 2010 - Wiley Online Library
Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R. Novel CLN8 mutations
confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. The …
confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. The …