The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations

The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations

Item
http://www.wikidata.org/entity/Q28281773
Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IVSystematic screens for proteins that interact with the mucolipidosis type IV protein TRPML1Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder.Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV.Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.TRP channels and Ca2+ signaling.TRPMLs: in sickness and in health.Quality control gone wrong: mitochondria, lysosomal storage disorders and neurodegeneration.Mucolipidosis type IV: the effect of increased lysosomal pH on the abnormal lysosomal storage.A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.Co-deficiency of Lysosomal Mucolipins 3 and 1 in Cochlear Hair Cells Diminishes Outer Hair Cell Longevity and Accelerates Age-Related Hearing Loss.
P2860

The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations

Item
http://www.wikidata.org/entity/Q28281773
description
2005 nî lūn-bûn
@nan
2005 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
The frequency of mucolipidosis ...... on of 3 novel MCOLN1 mutations
@ast
The frequency of mucolipidosis ...... on of 3 novel MCOLN1 mutations
@en
The frequency of mucolipidosis ...... on of 3 novel MCOLN1 mutations
@nl
type
label
The frequency of mucolipidosis ...... on of 3 novel MCOLN1 mutations
@ast
The frequency of mucolipidosis ...... on of 3 novel MCOLN1 mutations
@en
The frequency of mucolipidosis ...... on of 3 novel MCOLN1 mutations
@nl
prefLabel
The frequency of mucolipidosis ...... on of 3 novel MCOLN1 mutations
@ast
The frequency of mucolipidosis ...... on of 3 novel MCOLN1 mutations
@en
The frequency of mucolipidosis ...... on of 3 novel MCOLN1 mutations
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P356
P1433
P1476
The frequency of mucolipidosis ...... on of 3 novel MCOLN1 mutations
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698