The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.
about
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten diseaseKufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinosesAccumulation of the adenosine triphosphate synthase subunit C in the mnd mutant mouse. A model for neuronal ceroid lipofuscinosisNeuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9Juvenile Batten's disease: an ophthalmological assessment of 26 patients.Neuronal ceroid lipofuscinosis and arthropathy: a family study.The ultrastructural spectrum of lysosomal storage diseases.Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.The neuronal ceroid lipofuscinoses: unfolding the genetic defect.Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature.The progressive myoclonic epilepsies.Adult ceroid-lipofuscinosis: diagnostic value of biopsies and of neurophysiological investigations.Vitamin E deficiency and metabolic deficits in neuronal ceroid lipofuscinosis described by bioinformatics.Congenital amaurotic idiocy--a pathological, histochemical, biochemical and ultrastructural study.Axonal enlargements (meganeurites) in neuronal ceroid lipofuscinosis (NCL).
P2860
Q24310339-1DCD18E5-0E4D-44E1-A577-88878FBB6BF5Q24626677-904D4ACA-1279-4E30-A07A-F7C8E14BAF28Q24672777-66106466-AEF3-4CAE-878C-5433578F4487Q24676562-C34663BA-A612-4F68-B2F9-52E9CE13B875Q28591663-48235640-09A4-4A9C-9806-A88A1E4C8BF0Q33652147-7FC680C6-525C-47FB-8333-E4B95564C244Q33668532-D7BBCE68-0B59-46DC-88DC-6B689AA2292FQ35971523-7EB70A99-C8F3-4E79-82CB-CBBE766DAD08Q36017101-42C2D5B0-9D82-4BF8-96B0-FD5DB25CBD44Q36458996-91FA280E-7DE2-47E4-B07E-DEE8A6410401Q36505427-04ED6AA0-4BD5-40CE-89B1-E94A3E5963ABQ37159478-86B24D97-2672-4780-882A-F8574106D815Q38008465-6EDE6AED-98A8-4BB9-A587-A106B6343178Q38365594-7D5883E3-4E4D-4C8C-A251-5C0C5634248DQ39277111-A1A70CA9-27AA-4762-A893-90D862F2615EQ44186141-5D972603-0F05-4779-A017-5E14B3B69C3DQ48437102-89DAC632-06C6-4426-A556-92F2FD2B6B18Q48930524-74E8BFDF-17A9-450B-B1C9-F77500FEEBEF
P2860
The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.
description
1977 nî lūn-bûn
@nan
1977 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1977 թվականի մարտին հրատարակված գիտական հոդված
@hy
1977年の論文
@ja
1977年論文
@yue
1977年論文
@zh-hant
1977年論文
@zh-hk
1977年論文
@zh-mo
1977年論文
@zh-tw
1977年论文
@wuu
name
The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.
@ast
The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.
@en
The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.
@nl
type
label
The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.
@ast
The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.
@en
The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.
@nl
prefLabel
The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.
@ast
The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.
@en
The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.
@nl
P2093
P356
P1433
P1476
The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.
@en
P2093
Andermann E
Andermann F
Carpenter S
P304
P356
10.1093/BRAIN/100.1.137
P407
P478
P577
1977-03-01T00:00:00Z