Articles with "batten disease" as a keyword



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Successful treatment of cannabinoid administration against refractory epilepsy in Batten disease: a case report

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Published in 2020 at "Neurological Sciences"

DOI: 10.1007/s10072-020-04763-1

Abstract: Dear Editor, In recent years, the use of cannabinoids for therapeutic purposes has gained ground, particularly in CNS disorders [1]. We present a case with refractory epilepsy on the background of neuronal ceroid lipofuscinosis 6-syndrome… read more here.

Keywords: refractory epilepsy; treatment; per day; batten disease ... See more keywords
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Searching for novel biomarkers using a mouse model of CLN3-Batten disease

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Published in 2018 at "PLoS ONE"

DOI: 10.1371/journal.pone.0201470

Abstract: CLN3-Batten disease is a rare, autosomal recessive disorder involving seizures, visual, motor and cognitive decline, and premature death. The Cln3Δex7/8 mouse model recapitulates several phenotypic characteristics of the most common 1.02kb disease-associated deletion. Identification of… read more here.

Keywords: cln3 batten; disease; batten disease; cln3 ... See more keywords
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Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease)

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Published in 2022 at "Frontiers in Cell and Developmental Biology"

DOI: 10.3389/fcell.2022.812728

Abstract: The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a family of neurodegenerative diseases that affect all age groups and ethnicities around the globe. At least a dozen NCL subtypes have been… read more here.

Keywords: neuronal ceroid; ceroid lipofuscinoses; lipofuscinoses batten; ceroid ... See more keywords
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Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment

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Published in 2022 at "Frontiers in Neuroscience"

DOI: 10.3389/fnins.2022.834780

Abstract: Batten disease is unique among lysosomal storage disorders for the early and profound manifestation in the central nervous system, but little is known regarding potential neuron-specific roles for the disease-associated proteins. We demonstrate substantial overlap… read more here.

Keywords: interact shared; batten disease; disease; transmembrane batten ... See more keywords
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Batten's Disease: A Seizure Disorder's Battle for Diagnosis

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Published in 2021 at "Annals of Indian Academy of Neurology"

DOI: 10.4103/aian.aian_769_20

Abstract: Annals of Indian Academy of Neurology ¦ Volume 24 ¦ Issue 6 ¦ November-December 2021 953 Dear Editor, Batten’s disease is a rare neurodegenerative disorder named after a British pediatrician Frederick Batten, who described the… read more here.

Keywords: seizure disorder; disease seizure; batten disease; neurology ... See more keywords