Results 71 to 80 of about 6,644 (221)

Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 276-286, February 2026.
This original article is commented on by Mole on pages 156–157 of this issue. Abstract Aim To address disease progression in a cohort of patients with childhood‐onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia. Method In this retrospective study, selected clinical features (age at onset, at death,
Alessandro Simonati, Francesco Pezzini, Nardo Nardocci, CLNet Consortium, C Aiello, R Battini, R Biancheri, M Bonsignore, R Carrozzo, B Dalla Bernardina, S Della Vecchia, S Doccini, A Donati, M Filocamo, B Garavaglia, T Granata, S Grosso, AM Laverda, V Leuzzi, C Marini, M Mastrangelo, T Messena, M Salandin, S Sartori, N Specchio, P Striano, F Taioli, A Tessa, E Veneselli, Filippo M. Santorelli   +29 more
wiley   +1 more source

Fluorescent Dyes for Probing Intracellular and Subcellular Polarity

Chemistry–Methods, Volume 6, Issue 1, January 2026.
Fluorescent probes are crucial tools for measuring cellular microenvironment polarity, a parameter that influences physiological organelle function and diseases such as cancer. This text details the probes' physicochemical principles, intracellular targeting strategies, and key photophysical parameters for polarity estimation.
M. Carmen Gonzalez‐Garcia, Maria J. Ruedas‐Rama, Juan A. González‐Vera, Emilio Garcia‐Fernandez, Angel Orte   +4 more
wiley   +1 more source

A clinical case of neuronal ceroid lipofuscinosis type 2

Бюллетень сибирской медицины, 2020
Neuronal ceroid lipofuscinoses (NCL, Batten disease) are a group of inherited neurodegenerative diseases characterized by age-related onset, progressive myoclonus epilepsy, visual impairment and progressive intellectual and motor disorders.
L. S. Kraeva, E. S. Koroleva, V. M. Alifirova, A. V. Kuzmina   +3 more
doaj   +1 more source

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Jonathan Martens, Udo F. H. Engelke, Ron A. Wevers, Dirk J. Lefeber, Purva Kulkarni   +4 more
wiley   +1 more source

Cardiac involvement in neuronal ceroid lipofuscinosis

Kardiologia Polska, 2013
We present a case of a 58-year-old female with neuropsychiatric symptoms, followed by recurrent episodes of atrial flagellation and symptoms of heart failure. Based on intraoperative myocardial biopsy, neuronal ceroid lipofuscinosis was diagnosed.
Małgorzata, Szwoch, Dagmara, Wojtowicz, Karolina, Dorniak, Ewa, Walczak, Grzegorz, Raczak, Anna, Fidziańska   +5 more
openaire   +2 more sources

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

Human Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren, Congling Dai, Fei Meng, Pan Zhang, Chunbo Xie, Wenjuan Xiao, Wenbin He, Shimin Yuan, Xiurong Li, Qianjun Zhang, Weiling Tang, Liang Hu, Zixu Chen, Guangxiu Lu, Juan Du, Sicong Zeng, Ge Lin, Stuart Scott   +17 more
wiley   +1 more source

A Case of Late Infantile Neuronal Ceroid Lipofuscinosis Associated With Precocious Puberty

, 2000
Neuronal ceroid lipofuscinosis is one of the heredodegenerative diseases for which clinical and neuropathologic findings are well documented. We present a patient with late infantile neuronal ceroid lipofuscinosis with true precocious puberty; to our ...
Türkan Küçükali, Aysun, S, Kucukali, T, R. Arul Apak, Apak, RA, Sabiha Aysun   +5 more
core   +1 more source

Linkage analysis of multiplex Caribbean Hispanic families loaded for unexplained early‐onset cases identifies novel Alzheimer's disease loci

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2018
Introduction Less than 10% of early‐onset Alzheimer's disease (EOAD) is explained by known mutations. Methods We conducted genetic linkage analysis of 68 well‐phenotyped Caribbean Hispanic families without clear inheritance patterns or mutations in APP ...
Rong Cheng, Min Tang, Izri Martinez, Temitope Ayodele, Penelope Baez, Dolly Reyes‐Dumeyer, Rafael Lantigua, Martin Medrano, Ivonne Jimenez‐Velazquez, Joseph H. Lee, Gary W. Beecham, Christiane Reitz   +11 more
doaj   +1 more source

Proteomic analysis links truncated tau to lysosome motility, autophagy, and endo‐lysosomal dysfunction

Alzheimer's &Dementia, Volume 21, Issue 12, December 2025.
Abstract INTRODUCTION Tauopathies involve progressive accumulation of abnormal tau species that disrupt the autophagy‐lysosomal pathway (ALP), critical for degrading intracellular macromolecules and aggregates, leading to toxicity and cell death. This study examines how overexpression of the N‐terminally truncated Tau35 protein affects proteolytic ...
Despoina Goniotaki, Maximilian Hausherr, Steven Lynham, Ayushin Ale, George Chennell, Stefania Marcotti, Katrin Marcus, Wendy Noble, Diane P. Hanger, Graham Fraser, Deepak P. Srivastava   +10 more
wiley   +1 more source

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations

, 2009
The neuronal ceroid lipofuscinoses are a heterogeneous group of inherited degenerative disorders of the central nervous system. Cases of ceroid lipofuscinosis with cytoplasmic storage of granular osmiophilic deposits are associated with reduced activity ...
Tessa, A., Bonsignore, M., Simonati, A., Santorelli, F. M., Tozzi, G., Biancheri, R., Grosso, Salvatore, Veneselli, E., Bernardina, B. D., Piemonte, F.   +9 more
core   +1 more source