(Q30425611)

15 August 2017

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis (English)

1 reference

neuronal ceroid lipofuscinosis

15 August 2017

1 reference

11

Joachim Grötzinger

0 references

Laura Canafoglia

Laura Canafoglia

3

0 references

Michael Schwake

Michael Schwake

12

0 references

Michela Morbin

Michela Morbin

6

0 references

Jonathan D. Cooper

Jonathan D Cooper

19

0 references

Sara E. Mole

Sara E Mole

16

0 references

Samuel Berkovic

Samuel F Berkovic

22

0 references

Giorgio Giaccone

Giorgio Giaccone

8

1 reference

ORCID Public Data File 2021

Patrick Cossette

9

Patrick Cossette

1 reference

15 August 2017

Katherine R Smith

1

1 reference

15 August 2017

Hans-Henrik M Dahl

2

1 reference

15 August 2017

Eva Andermann

4

1 reference

15 August 2017

John Damiano

5

1 reference

15 August 2017

Amalia C Bruni

7

1 reference

15 August 2017

Paul Saftig

10

1 reference

15 August 2017

Joachim Grötzinger

11

1 reference

15 August 2017

Frederick Andermann

13

1 reference

15 August 2017

John F Staropoli

14

1 reference

15 August 2017

Katherine B Sims

15

1 reference

15 August 2017

Silvana Franceschetti

17

1 reference

15 August 2017

Noreen A Alexander

18

1 reference

15 August 2017

Harold A Chapman

20

1 reference

15 August 2017

Stirling Carpenter

21

1 reference

15 August 2017

Melanie Bahlo

23

1 reference

15 August 2017

language of work or name

English

0 references

publication date

7 January 2013

1 reference

15 August 2017

Human Molecular Genetics

1 reference

15 August 2017

22

1 reference

15 August 2017

7

1 reference

15 August 2017

1417-1423

1 reference

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

A map of human genome variation from population-scale sequencing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

A method and server for predicting damaging missense mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

Generating linkage mapping files from Affymetrix SNP chip data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

Mapping short DNA sequencing reads and calling variants using mapping quality scores

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

Estimation of the inbreeding coefficient through use of genomic data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

The crystal structure of human cathepsin F and its implications for the development of novel immunomodulators

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596852

MOLSCRIPT: a program to produce both detailed and schematic plots of protein structures

14 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDS558

Phospholipases and the molecular basis for the formation of ceroid in Batten disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23297359

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDS558

1 reference

15 August 2017

1 reference

15 August 2017

1 reference