Results 81 to 90 of about 1,648 (197)

Predictors of etiology and drug resistance in children with new‐onset focal seizures

Epilepsia Open, Volume 11, Issue 1, Page 123-135, February 2026.
Abstract Objective To examine the clinical features of new‐onset focal seizures in children and investigate clinical associations and predictors of underlying etiology and drug resistance. Methods Data were gathered from The Children's Hospital at Westmead admissions for patients aged 1 month to 18 years who presented with new‐onset focal seizures ...
Byoung Chan Lee, Russell C. Dale, Elizabeth H. Barnes, Shekeeb S. Mohammad, Sachin Gupta, Chong Wong, Deepak Gill, Kavitha Kothur   +7 more
wiley   +1 more source

The specific loss of GnRH-positive neurons from the hypothalamus of sheep with CLN6 neuronal ceroid lipofuscinosis occurs without glial activation and has only minor effects on reproduction

Neurobiology of Disease, 2011
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are characterized by progressive neurodegeneration resulting in widespread brain atrophy. Each form is assumed to be the consequence of some universal intracellular event; however, time course ...
Graham W. Kay, Nigel P. Jay, David N. Palmer   +2 more
doaj   +1 more source

Glycolysis reprogramming predicts poor prognosis and drives therapy resistance via CLN6 in lethal prostate cancer

Acta Biochimica et Biophysica Sinica
Lethal prostate cancer is marked by tumor heterogeneity and resistance to androgen receptor signaling inhibitors (ARSIs). In this study we identify glycolysis as a driver of disease progression and therapy resistance.
Zhou-Da Cai, Jianming Lu, Shanshan Mo, Jipu Liu, Chuanfan Zhong, Yongding Wu, Fen Zou, Jian-Heng Ye, Zhaodong Han, Yuxiang Liang, Le Zhang, Fengping Liu, Weide Zhong   +12 more
semanticscholar   +1 more source

Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6)

Neurobiology of Disease, 2005
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are fatal inherited neurodegenerative diseases characterized by gross brain atrophy, blindness, and intracellular accumulation of lysosome-derived storage bodies.
Manfred J. Oswald, David N. Palmer, Graham W. Kay, Stephen J.A. Shemilt, Payam Rezaie, Jonathan D. Cooper   +5 more
doaj   +1 more source

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non‐Finnish populations.
Eriko Nishi, Kumiko Yanagi, Morimasa Shima, Naoko Yamazaki, Kazumi Kawato, Aya Narita, Norio Sakai, Nobuhiko Okamoto, Keiko Yanagihara, Tadashi Kaname   +9 more
wiley   +1 more source

Identification of a novel mutation and a rare case of CLN6 and computation protein structure

, 2023
Abstract Neuronal ceroid lipofuscinoses (NCLs) also known as Batten disease jointly account the highest incidences of hereditary neurodegenerative disease in childhood. This disease is mostly presented by vision loss, ataxia, premature mortality in later stages of disease and epileptic seizures.
Fozhan Saboori, Nazanin Ghaderi Nejad
openaire   +1 more source

“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era

Journal of Inborn Errors of Metabolism and Screening, 2021
Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration.
Favio Pesaola, Guillermo Guelbert, Ana Clara Venier, Inés Adriana Cismondi, Adriana Becerra, Juan Carlos G. Vazquez, Elmer Fernandez, Ana Lucia De Paul, Norberto Guelbert, Inés Noher   +9 more
doaj   +1 more source

Brainstem Disconnection Syndrome in a Patient With Respiratory Failure and Failed Weaning From Oxygen: A Case Report

Case Reports in Radiology, Volume 2026, Issue 1, 2026.
Background Brainstem disconnection syndrome (BDS) is an exceedingly rare congenital malformation of the hindbrain characterized by disconnection of the brainstem, often presenting with severe neurological deficits and early neonatal mortality. Whereas previous cases have documented isolated neurological anomalies, this report delineates a distinctive ...
Afnan Alshehri, Marah Ashi, Sarah Sulaiman, Ahmed Alzahrani, Shashank Kaushik   +4 more
wiley   +1 more source

Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses

Annals of Clinical and Translational Neurology, 2018
Objective Neuronal Ceroid Lipofuscinoses (NCL) are fatal inherited neurodegenerative diseases with established neuronal cell death and increased ceramide levels in brain, hence, a need for disease‐modifying drug candidates, with potential to enhance ...
Joelle Makoukji, Fadi Saadeh, Karl Albert Mansour, Sally El‐Sitt, Jamal Al Ali, Nihar Kinarivala, Paul C. Trippier, Rose‐Mary Boustany   +7 more
doaj   +1 more source

The Roles of MicroRNAs, Oncogenes, and Tumor Suppressor Gene Molecular Subtypes of Breast Cancer: Therapeutic Potential of Pharmaceutical and Natural Products

International Journal of Breast Cancer, Volume 2026, Issue 1, 2026.
Background Breast cancer (BC) is the most common malignancy among women, with 2.3 million new cases and over 670,000 deaths annually. Despite advances in detection and therapy, relapse, metastasis, and resistance remain significant challenges. Tumor suppressor genes (TSGs) regulate abnormal cell division, whereas oncogenes, which arise from proto ...
Md. Sadikuj Jaman, Md. Maniruzzaman, Md. Rokibul Hasan Bhuiyan, Md Shajedul Haque, Irfan Ahmad   +4 more
wiley   +1 more source