Results 101 to 110 of about 1,648 (197)

The cerebellum in epilepsy

Epilepsia, Volume 66, Issue 6, Page 1773-1792, June 2025.
Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder, Rebecca Kerestes, Puneet Opal, Maria Marchese, Orrin Devinsky   +4 more
wiley   +1 more source

Enhanced expression of manganese-dependent superoxide dismutase in human and ovine CLN6 tissues

, 2003
Neuronal ceroid lipofuscinosis type 6 and its sheep model (OCL6) are lysosomal storage disorders caused by mutations in the CLN6 gene product of unknown function.
Tyynela, J, Kohlschutter, A, Palmer, D N, Cooper, J D, Heine, C, Elleder, M, Braulke, T   +6 more
core   +1 more source

Association of Lifestyle‐Induced Weight Loss With Gene Expression in Subcutaneous Adipose Tissue in Metabolic Syndrome

Journal of Diabetes, Volume 17, Issue 4, April 2025.
ABSTRACT Aims Lifestyle‐induced weight loss (LIWL) is considered an effective therapy for the treatment of metabolic syndrome (MetS). The role of differentially expressed genes (DEGs) in adipose tissue function and in the success of LIWL in MetS is still unclear.
Silke Zimmermann, Kirsten Roomp, Hans‐Jonas Meyer, Akash Mathew, Manuel Florian Struck, Matthias Blüher, Hugo N. G. Martin, Maria Keller, Kathrin Landgraf, Antje Körner, Anne Hoffmann, Yvonne Böttcher, Kathleen Biemann, Adhideb Ghosh, Christian Wolfrum, Falko Noé, Berend Isermann, Jochen G. Schneider, Ronald Biemann   +18 more
wiley   +1 more source

Table1_A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature.DOCX

, 2021
The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of autosomal recessive lysosomal storage disorders that are characterized by neurodegeneration, progressive cognitive decline, motor impairment, ataxia, loss of vision ...
Savvas S. Papacostas (6489914), Eleni Zamba-Papanicolaou (91067), Kyproula Christodoulou (91068), Christina Votsi (91065), Paschalis Nicolaou (91063), George A. Tanteles (9315770), Yiolanda-Panayiota Christou (11727911)   +6 more
core   +1 more source

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses

JIMD Reports, 2019
Background Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the CLN genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test results of the CLN ...
Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, Sarah Dyack, Jean Mathieu, Asuri N. Prasad, Chitra Prasad, Lianna Kyriakopoulou, Saadet Mercimek‐Andrews   +8 more
doaj   +1 more source

Cross–regulation of CLN5 and CLN6 gene expression in ovine Batten disease models

, 2017
Sheep with naturally occurring CLN5 and CLN6 forms of Batten disease (neuronal ceroid lipofuscinoses, NCLs) are studied as models of the human diseases.
Palmer, DN, Chen, J, Mitchell, Nadia
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Decreased dendritic spine density in the mature cortex of Cln6^nclf mice.

, 2013
Golgi impregnation was used to label dendritic spines on the primary dendrite of excitatory cortical projection neurons in age-matched 2 month controls (A) and Cln6nclf (B) mice.
Helen Magee (479018), Jonathan D. Cooper (169584), Jeremy P. Morgan (479017), Jill M. Weimer (479021), Andrew Wong (256256), Bettina Koch (479020), Tarah Nelson (479019)   +6 more
core   +1 more source

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

Molecular Genetics and Metabolism Reports, 2017
Lysosomal diseases (LD) comprise a group of approximately 60 hereditary conditions caused by progressive accumulation of metabolites due to defects in lysosomal enzymes and degradation pathways, which lead to a wide range of clinical manifestations.
Filippo Pinto Vairo, Nicole J. Boczek, Margot A. Cousin, Charu Kaiwar, Patrick R. Blackburn, Erin Conboy, Brendan C. Lanpher, Ralitza H. Gavrilova, Pavel N. Pichurin, Konstantinos N. Lazaridis, Dusica Babovic-Vuksanovic, Eric W. Klee   +11 more
doaj   +1 more source

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers

Molecular Genetics & Genomic Medicine, 2020
Background Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumulation of lipofuscin in the body's tissues.
Anastasiya A. Kozina, Elena G. Okuneva, Natalia V. Baryshnikova, Olga B. Kondakova, Ekaterina A. Nikolaeva, Inessa D. Fedoniuk, Svetlana V. Mikhailova, Anna Y. Krasnenko, Ivan F. Stetsenko, Nikolay A. Plotnikov, Olesia I. Klimchuk, Yaroslav V. Popov, Ekaterina I. Surkova, Peter A. Shatalov, Alexander S. Rakitko, Valery V. Ilinsky   +15 more
doaj   +1 more source

Investigating Disease Processes in CLN5 and CLN6 Batten Disease

, 2017
The neuronal ceroid lipofuscinoses (NCL, Batten disease) are a heterogeneous group of inherited neurodegenerative disorders, clinically characterised by blindness, myoclonic epilepsy, cerebral atrophy, and progressive cognitive and motor decline. To date,
Best, Hannah
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