Juvenile Batten's disease: an ophthalmological assessment of 26 patients.
about
Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neuronsAutofluorescence and infrared retinal imaging in patients and obligate carriers with neuronal ceroid lipofuscinosis.Macular pigment and age related macular degeneration.Batten disease: features to facilitate early diagnosisPhotoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Δex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease).Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)Autosomal dominant cone-rod dystrophy with negative electroretinogram.Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye.Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.Timing of cognitive decline in CLN3 disease.
P2860
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P2860
Juvenile Batten's disease: an ophthalmological assessment of 26 patients.
description
1980 nî lūn-bûn
@nan
1980 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1980 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1980年の論文
@ja
1980年論文
@yue
1980年論文
@zh-hant
1980年論文
@zh-hk
1980年論文
@zh-mo
1980年論文
@zh-tw
1980年论文
@wuu
name
Juvenile Batten's disease: an ophthalmological assessment of 26 patients.
@ast
Juvenile Batten's disease: an ophthalmological assessment of 26 patients.
@en
type
label
Juvenile Batten's disease: an ophthalmological assessment of 26 patients.
@ast
Juvenile Batten's disease: an ophthalmological assessment of 26 patients.
@en
prefLabel
Juvenile Batten's disease: an ophthalmological assessment of 26 patients.
@ast
Juvenile Batten's disease: an ophthalmological assessment of 26 patients.
@en
P2093
P2860
P356
P1476
Juvenile Batten's disease: an ophthalmological assessment of 26 patients.
@en
P2093
P2860
P304
P356
10.1136/BJO.64.10.726
P407
P577
1980-10-01T00:00:00Z