Results 91 to 100 of about 1,071 (153)

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

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

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

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

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

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

Генетично верифициран случай на невронална цероидлипофусциноза с нова мутация в CLN6 гена

Българска неврология, 2019
Невроналните цероидни липофусцинози, носещи сборно наименование Болест на Batten (NCLs) представляват хетерогенна група често срещани наследствени невродегенеративни заболявания с начало в различни периоди на детската възраст и по-рядко у възрастни.
Maya Koleva, V. Bojinova, N. Ivanova, K. Mihova, R. Kuneva, I. Tournev   +5 more
doaj  

Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report. [PDF]

World J Clin Cases, 2023
Wang XQ, Chen CB, Zhao WJ, Fu GB, Zhai Y.   +4 more
europepmc   +1 more source

Progressive MRI brain volume changes in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinosis. [PDF]

Brain Commun, 2023
Murray SJ, Almuqbel MM, Felton SA, Palmer NJ, Myall DJ, Shoorangiz R, Ella A, Keller M, Palmer DN, Melzer TR, Mitchell NL.   +10 more
europepmc   +1 more source