Results 21 to 30 of about 1,809 (153)

Perioperative care of a patient with neuronal ceroid lipofuscinoses

Saudi Journal of Anaesthesia, 2013
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited, autosomal recessive, and progressive neurodegenerative diseases, which result from an enzymatic defect or the deficiency of a transmembrane protein, leading to the accumulation of ...
Hiromi Kako, David P Martin, Joseph D Tobias   +2 more
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Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions [PDF]

Neurobiology of Disease, 2017
The neuronal ceroid lipofuscinoses (NCLs) are devastating inherited progressive neurodegenerative diseases, with most forms having a childhood onset of clinical signs.
Martin L. Katz, Eline Rustad, Grace O. Robinson, Rebecca E.H. Whiting, Jeffrey T. Student, Joan R. Coates, Kristina Narfstrom   +6 more
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Global Brain Transcriptome Analysis of a Neuronal Ceroid Lipofuscinoses Mouse Model [PDF]

ASN Neuro, 2019
In humans, homozygous mutations in the TPP1 gene results in loss of tripeptidyl peptidase 1 (TPP1) enzymatic activity, leading to late infantile neuronal ceroid lipofuscinoses disease.
Miriam S. Domowicz, Wen-Ching Chan, Patricia Claudio-Vázquez, Judith G. Henry, Christopher B. Ware, Jorge Andrade, Glyn Dawson, Nancy B. Schwartz   +7 more
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Ocular therapies for neuronal ceroid lipofuscinoses: more than meets the eye [PDF]

Neural Regeneration Research, 2022
Samantha J Murray, Nadia L Mitchell
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The Neuronal Ceroid Lipofuscinoses

Abstract The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited lysosomal storage disorders that share similar pathological and clinical features. They are characterized by accumulation of autofluorescent storage material within the lysosome and the death of neurons.
Mole SE.
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Sunken eyes as a peculiar finding in neuronal ceroid lipofuscinoses [PDF]

Arquivos de Neuro-Psiquiatria
Raphael Pinheiro Camurugy da Hora, Victor Rebelo Procaci, João Victor Cabral Correia Férrer, Thiago Yoshinaga Tonholo Silva, Flávio Moura de Rezende Filho, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +6 more
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Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association

Epilepsy & Behavior Reports, 2020
The neuronal ceroid lipofuscinoses (NCL) are a collection of lysosomal storage diseases characterised by the accumulation of characteristic inclusions containing lipofuscin in various tissues of the body and are one of the causes of progressive myoclonic
Jamie Talbot, Priyanka Singh, Clinda Puvirajasinghe, Sanjay M. Sisodiya, Fergus Rugg-Gunn   +4 more
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Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

Journal of Medical Case Reports, 2018
Background The neuronal ceroid lipofuscinoses are a group of neurodegenerative, lysosomal storage disorders. They are inherited as an autosomal recessive pattern with the exception of adult neuronal ceroid lipofuscinosis, which can be inherited in either
Ali Hosseini Bereshneh, Masoud Garshasbi
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The Neuronal Ceroid-Lipofuscinoses [PDF]

Journal of Neuropathology & Experimental Neurology, 2003
The neuronal ceroid-lipofuscinoses (NCLs) collectively constitute the most common group of neurodegenerative diseases in childhood and usually show an autosomal recessive mode of inheritance. Despite varying ages of onset and clinical course characterized in most instances by progressive mental and motor deterioration, blindness, epileptic seizures ...
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Neuronal ceroid lipofuscinoses

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2009
The neuronal ceroid lipofuscinoses (NCL) are severe neurodegenerative lysosomal storage disorders of childhood, characterized by accumulation of autofluorescent ceroid lipopigments in most cells. NCLs are caused by mutations in at least ten recessively inherited human genes, eight of which have been characterized.
Jalanko, Anu, Braulke, Thomas
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