Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage (Q36017101)

11 August 2017

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage (English)

1 reference

11 August 2017

1 reference

14

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11 August 2017

Laura Canafoglia

5

0 references

Michela Morbin

object named as

Michela Morbin

6

0 references

Sara E. Mole

object named as

Sara E Mole

9

0 references

Samuel Berkovic

object named as

Samuel F Berkovic

17

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author name string

Katherine R Smith

1

1 reference

11 August 2017

John Damiano

2

1 reference

11 August 2017

Silvana Franceschetti

3

1 reference

11 August 2017

Stirling Carpenter

4

1 reference

11 August 2017

Giacomina Rossi

7

1 reference

11 August 2017

Davide Pareyson

8

1 reference

11 August 2017

John F Staropoli

10

1 reference

11 August 2017

Katherine B Sims

11

1 reference

11 August 2017

Jada Lewis

12

1 reference

11 August 2017

Wen-Lang Lin

13

1 reference

11 August 2017

Hans-Henrik Dahl

15

1 reference

11 August 2017

Melanie Bahlo

16

1 reference

11 August 2017

language of work or name

English

0 references

publication date

17 May 2012

1 reference

American Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

90

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11 August 2017

6

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11 August 2017

1102-1107

1 reference

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

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

A neurodegenerative disease mutation that accelerates the clearance of apoptotic cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

A map of human genome variation from population-scale sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

A method and server for predicting damaging missense mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

The granulin gene family: from cancer to dementia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Generating linkage mapping files from Affymetrix SNP chip data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Parkinsonism among Gaucher disease carriers

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Estimation of the inbreeding coefficient through use of genomic data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Dominance and homozygosity

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Cellular mechanism for the protective effect of haemoglobin S against P. falciparum malaria

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

A novel deletion in progranulin gene is associated with FTDP-17 and CBS.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Glucocerebrosidase mutations are an important risk factor for Lewy body disorders

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Synaptic dysfunction in progranulin-deficient mice

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

Heterogeneity within a large kindred with frontotemporal dementia: A novel progranulin mutation

21 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370276

10.1016/J.AJHG.2012.04.021

5 December 2018

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22608501

1 reference