(Q51645900)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27406698%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

title

WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease (English)

1 reference

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18 March 2020

2

1 reference

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18 March 2020

Giovanni Morana

5

1 reference

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18 March 2020

author name string

A E Covone

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27406698%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

M Acquaviva

3

1 reference

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18 March 2020

F Trucco

4

1 reference

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18 March 2020

R Ravazzolo

6

1 reference

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18 March 2020

C Minetti

7

1 reference

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18 March 2020

publication date

10 February 2016

1 reference

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18 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27406698%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

volume

90

1 reference

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18 March 2020

issue

2

1 reference

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18 March 2020

page(s)

182-185

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27406698%20AND%20SRC:MED&resulttype=core&format=json

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

18 March 2020

cites work

1 reference

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

21 January 2018

1 reference

A general framework for estimating the relative pathogenicity of human genetic variants

21 January 2018

1 reference

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

21 January 2018

1 reference

Improved exome prioritization of disease genes through cross-species phenotype comparison

21 January 2018

1 reference

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

21 January 2018

1 reference

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis

21 January 2018

1 reference

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

21 January 2018

1 reference

Network organization of the human autophagy system

21 January 2018

1 reference

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12730

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27406698%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

1 reference