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pro vyhledávání: '"Juvenile Neuronal Ceroid Lipofuscinosis"'
Akademický článek
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Autor:
John R. Ostergaard
Publikováno v:
Frontiers in Psychiatry, Vol 14 (2023)
BackgroundJuvenile neuronal ceroid lipofuscinosis (JNCL, CLN3) is a childhood-onset neurodegenerative disease with prominent symptoms comprising a pediatric dementia syndrome. As in adult dementia, behavioral symptoms like mood disturbances and anxie
Externí odkaz:
https://doaj.org/article/7f0b93fb83f7417ca0777526325d355b
Autor:
Sueanne Chear, Sharn Perry, Richard Wilson, Aidan Bindoff, Jana Talbot, Tyson L. Ware, Alexandra Grubman, James C. Vickers, Alice Pébay, Jonathan B. Ruddle, Anna E. King, Alex W. Hewitt, Anthony L. Cook
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 12 (2022)
Externí odkaz:
https://doaj.org/article/8506b6697e2647a08022c28a7bd9530c
Pacemaker Implantation in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)–A Long-Term Follow-Up Study
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
It is well documented that deteriorating heart function due to deposition of ceroid lipopigment is a significant co-morbidity in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 disease) although the exact disease mechanisms remain unknown in any NCL fo
Externí odkaz:
https://doaj.org/article/b50d0cd3d7ba43b594f86a70f6ea307d
Autor:
Jaime Cárcel-Trullols
Publikováno v:
International Clinical Neuroscience Journal, Vol 7, Iss 1, Pp 6-15 (2020)
Background: Juvenile neuronal ceroid lipofuscinosis (JNCL), one of the most frequent forms of the NCL storage diseases, is known to be caused by loss-of-function mutations in ceroid-lipofuscinosis neuronal protein 3 (CLN3), but its cell function has
Externí odkaz:
https://doaj.org/article/1a2a876a12784e44a19b209636ecae18
Publikováno v:
Epilepsy & Behavior Reports, Vol 15, Iss , Pp 100427- (2021)
The Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of rare neurolipidosis disorders characterized by progressive blindness, deterioration of speech and motor function, cognitive decline, behavior problems, seizures, and premature death. We re
Externí odkaz:
https://doaj.org/article/3a1075f83cf9427484e9c4eccc5297d0
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Data in Brief, Vol 32, Iss , Pp 106076- (2020)
Juvenile neuronal ceroid lipofuscinosis (JNCL, aka. juvenile Batten disease or CLN3 disease), a lethal pediatric neurodegenerative disease without cure, often presents with vision impairment and characteristic ophthalmoscopic features including focal
Externí odkaz:
https://doaj.org/article/a75a940506794613b66eca791fc9fb5e
Publikováno v:
Biology Direct, Vol 13, Iss 1, Pp 1-9 (2018)
Abstract Background Mutations in the CLN3 gene lead to so far an incurable juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or Batten disease that starts at the age of 4–6 years with a progressive retinopathy leading to blindness. Motor disturb
Externí odkaz:
https://doaj.org/article/f78a10a255d44a4393fb15e8319a415d
Autor:
Ostergaard, John R.
Publikováno v:
Ostergaard, J R 2023, ' Etiology of anxious and fearful behavior in juvenile neuronal ceroid lipofuscinosis (CLN3 disease) ', Frontiers in Psychiatry, vol. 14, 1059082 . https://doi.org/10.3389/fpsyt.2023.1059082
BackgroundJuvenile neuronal ceroid lipofuscinosis (JNCL, CLN3) is a childhood-onset neurodegenerative disease with prominent symptoms comprising a pediatric dementia syndrome. As in adult dementia, behavioral symptoms like mood disturbances and anxie