Results 71 to 80 of about 1,071 (153)

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

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

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

Embracing the future: Neonatal screening for epileptic syndromes

Epilepsia, Volume 66, Issue 6, Page 1843-1853, June 2025.
Rima Nabbout, Mathieu Kuchenbuch
wiley   +1 more source

Generierung monoklonaler Antikörper gegen das Protein CLN6

, 2017
Neuronal Ceroid Lipofuscinoses NCL /CLN are neurodegenerative hereditary disorders of children and adolescents caused by mutations in CLN proteins. The functions of most CLN proteins are unknown. The ER membrane protein CLN6 has been identified as a cause of juvenile NCL and its involvement in growth processes in the Dorsal Root Ganglion, and a ...
openaire   +2 more sources

Morphometric Brain Changes in a Merino Sheep (Ovis aries) CLN6 Neuronal Ceroid Lipofuscinosis Model

Biology
The neuronal ceroid lipofuscinoses are the most common group of human paediatric genetic neurodegenerative disorders and have also been reported in multiple animal species.
Amelia Nanni, Emma Elcombe, Maverick Ho Ming Cheung, Timothy Stait-Gardner, Marina Gimeno, Imke Tammen, Marianne D. Keller   +6 more
doaj   +1 more source

CLN6 Mutation in a Patient with Progressive Myoclonus Epilepsy [PDF]

Journal of the korean child neurology society, 2018
null 이현경, null 우영종, null 김명규, null 윤보애, null 김영옥   +4 more
openaire   +1 more source

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins

BMC Cell Biology, 2009
Background Neuronal ceroid lipofuscinoses (NCLs) comprise at least eight genetically characterized neurodegenerative disorders of childhood. Despite of genetic heterogeneity, the high similarity of clinical symptoms and pathology of different NCL ...
Jalanko Anu, Sipilä Tessa, Schmiedt Mia-Lisa, Heine Claudia, von Schantz Carina, Lyly Annina, Kyttälä Aija   +6 more
doaj   +1 more source

Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6

Animal Genetics
AbstractNeuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative disorders that occur in humans, dogs, and several other species. NCL is characterised clinically by progressive deterioration of cognitive and motor function, epileptic seizures, and visual impairment.
Kim K. L. Bellamy, Fredrik S. Skedsmo, Josefin Hultman, Johan Høgset Jansen, Frode Lingaas   +4 more
openaire   +2 more sources

Issue Information

Epilepsia Open, Volume 10, Issue 1, Page 1-9, February 2025.
wiley   +1 more source