Results 41 to 50 of about 1,806 (157)

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 5

BMC Medical Genetics, 2020
Background Neuronal ceroid lipofuscinosis type 5 (CLN5) is a rare form of neuronal ceroid lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases characterized by progressive intellectual and motor deterioration, visual failure ...
Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang, Yiping Shen   +10 more
doaj   +1 more source

An Unusual Presentation of Neuronal Ceroid Lipofuscinosis With CLN6 Mutation [PDF]

Caspian Journal of Neurological Sciences, 2023
Background: Neuronal ceroid lipofuscinoses (NCL) is a rare progressive neurodegenerative disorder caused by more than 530 mutations of at least 13 different genes (CLN 1-14).
Shahin Koohmanaee, Seyyedeh Azadeh Hoseini Nouri , Vahid Aminzadeh, Manijeh Tabrizi, Reza Bayat, Fatemeh Kharaee , Maryam Shahrokhi, Afagh Hassanzadeh Rad, Saber Najafi Chakoosari, Setila Dalili, Ehsan Kazemnejad Leili   +10 more
doaj  

Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin

Data in Brief, 2016
The article contains raw and analyzed data related to the research article “Neuronal ceroid lipofuscinosis genes, CLN2, CLN3, CLN5 are spatially and temporally co-expressed in a developing mouse brain” (Fabritius et al., 2014) [1].
Helena M. Minye, Anna-Liisa Fabritius, Jouni Vesa, Leena Peltonen   +3 more
doaj   +1 more source

Late infantile neuronal ceroid lipofuscinosis with epilepsy as the first symptom: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
DOI: 10.3969/j.issn.1672-6731.2018.06 ...
Jing XIAO
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants

BMC Medical Genetics, 2018
Background Neuronal ceroid lipofuscinoses (NCLs) are one of the most frequent childhood-onset neurodegenerative pathologies characterized by seizures, progressive cognitive decline, motor impairment and loss of vision. For the past two decades, more than
Zhijie Gao, Hua Xie, Qian Jiang, Nan Wu, Xiaoli Chen, Qian Chen   +5 more
doaj   +1 more source

Integrated Proteomic and scRNA‐Seq Analysis Reveals Pyroptosis‐Related Subtypes in Lung Adenocarcinoma

The Clinical Respiratory Journal, Volume 20, Issue 7, July 2026.
ABSTRACT Background Pyroptosis is a recently identified form of programmed cell death that plays an important role in cancer initiation and progression. However, the function of pyroptosis in lung adenocarcinoma (LUAD) remains unclear. The study integrated proteomic and single‐cell RNA sequence (scRNA‐seq) data to investigate the potential role of ...
Tianchang Wei, Yongqi Wei, Weiqi Mao, Cuiping Zhang, Jian Xu, Chunlai Lu, Yuanlin Song, Xiaoyan Chen   +7 more
wiley   +1 more source

A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease

Arquivos de Neuro-Psiquiatria
Background Neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive, inherited, lysosomal, and neurodegenerative diseases that causes progressive dementia, seizures, movement disorders, language delay/regression, progressive ...
Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, André Pessoa, Bibiana Mello de Oliveira   +8 more
doaj   +1 more source

Sex‐Dependent Effects of CSF1R‐Mediated Myeloid Cell Depletion in a Mouse Model of Multiple System Atrophy

European Journal of Neuroscience, Volume 63, Issue 12, June 2026.
Myeloid cell depletion in males is rapid and initially more effective than in females, which leads to reduced occurrence of dystonia‐like neurological symptoms and alleviated neuronal loss in a mouse model of MSA. Overall, these findings indicate that the therapeutic efficacy of CSF1R‐mediated myeloid cell depletion in MSA is sex‐specific. ABSTRACT Sex‐
Kristina Battis, Michael Mante, Isabel Naumann, Marie Andert, Ha Yeon Kim, Wei Xiang, Robert A. Rissman, Jürgen Winkler, Alana Hoffmann   +8 more
wiley   +1 more source