Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.

Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.

Item
http://www.wikidata.org/entity/Q52178120
Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.Tripeptidyl-peptidase I in health and disease.Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.Aorsin, a novel serine proteinase with trypsin-like specificity at acidic pH.Distribution of tripeptidyl peptidase I in human tissues under normal and pathological conditions.Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.Maturation of human tripeptidyl-peptidase I in vitro.Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil.Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
P2860

Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.

Item
http://www.wikidata.org/entity/Q52178120
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Reevaluation of neuronal ceroi ...... the result of CLN2 mutations.
@en
Reevaluation of neuronal ceroi ...... the result of CLN2 mutations.
@nl
type
label
Reevaluation of neuronal ceroi ...... the result of CLN2 mutations.
@en
Reevaluation of neuronal ceroi ...... the result of CLN2 mutations.
@nl
prefLabel
Reevaluation of neuronal ceroi ...... the result of CLN2 mutations.
@en
Reevaluation of neuronal ceroi ...... the result of CLN2 mutations.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Reevaluation of neuronal ceroi ...... the result of CLN2 mutations.
@en
P2093
P304
P31
P356
P433
P478
P577
P698