An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. - Wikidata - wikimedia - TriplyDB

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.

http://www.wikidata.org/entity/Q34315263

about

Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses.Genetics of the neuronal ceroid lipofuscinoses (Batten disease).Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.

P2860

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P2860

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.

http://www.wikidata.org/entity/Q34315263

description

2012 nî lūn-bûn

@nan

2012 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

name

An atypical case of neuronal c ...... ably penetrant POLG1 mutation.

@ast

An atypical case of neuronal c ...... ably penetrant POLG1 mutation.

@en

An atypical case of neuronal c ...... ably penetrant POLG1 mutation.

@nl

type

label

An atypical case of neuronal c ...... ably penetrant POLG1 mutation.

@ast

An atypical case of neuronal c ...... ably penetrant POLG1 mutation.

@en

An atypical case of neuronal c ...... ably penetrant POLG1 mutation.

@nl

prefLabel

An atypical case of neuronal c ...... ably penetrant POLG1 mutation.

@ast

An atypical case of neuronal c ...... ably penetrant POLG1 mutation.

@en

An atypical case of neuronal c ...... ably penetrant POLG1 mutation.

@nl

P1433

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1471-2350-13-50

P1433

BMC Medical Genetics

P1476

An atypical case of neuronal c ...... ably penetrant POLG1 mutation.

@en

P2093

John F Staropoli

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Katherine B Sims

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Rosemary Barone

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Susan L Cotman

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Winnie Xin

http://www.w3.org/2001/XMLSchema#string

P2860

Premature ageing in mice expressing defective mitochondrial DNA polymerase

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells

In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells.

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Bestrophins and retinopathies.

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.

Experimental models of NCL: the yeast model.

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

P2888

1471-2350-13-50

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50

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scholarly article

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10.1186/1471-2350-13-50

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13

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2012-06-24T00:00:00Z

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228061136

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1001828490

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22727047

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3443422

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