(Q24613553)

4

0 references

Jan Senderek

8

0 references

Luitgard Graul-Neumann

13

0 references

Klaus Zerres

23

0 references

Michael Yourshaw

2

Michael Yourshaw

0 references

Michael S. Salman

Michael S Salman

9

0 references

Monique Ryan

Monique M Ryan

24

0 references

Harry V Vinters

21

Harry V Vinters

0 references

Manuel Castro-Gago

15

Manuel Castro-Gago

0 references

Joanna C Jen

26

Joanna C Jen

0 references

Stanley F Nelson

25

Stanley F Nelson

0 references

author name string

Jijun Wan

1

0 references

Hafsa Mamsa

3

0 references

Manoj P Menezes

5

0 references

Ji Eun Hong

6

0 references

Derek W Leong

7

0 references

David Chitayat

10

0 references

Pavel Seeman

11

0 references

Arpad von Moers

12

0 references

Andrew J Kornberg

14

0 references

María-Jesús Sobrido

16

0 references

Masafumi Sanefuji

17

0 references

Perry B Shieh

18

0 references

Noriko Salamon

19

0 references

Ronald C Kim

20

0 references

Zugen Chen

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

22

0 references

language of work or name

English

0 references

publication date

June 2012

0 references

published in

Nature Genetics

0 references

volume

44

0 references

issue

6

0 references

page(s)

704-8

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

A map of human genome variation from population-scale sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

RNA exosome depletion reveals transcription upstream of active human promoters

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Reconstitution, activities, and structure of the eukaryotic RNA exosome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Three novel components of the human exosome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

The yeast exosome and human PM-Scl are related complexes of 3' --> 5' exonucleases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

The exosome: a conserved eukaryotic RNA processing complex containing multiple 3'-->5' exoribonucleases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

7 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG.2254

A framework for variation discovery and genotyping using next-generation DNA sequencing data

22 April 2017

1 reference

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

High-resolution in situ hybridization to whole-mount zebrafish embryos

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Searching NCBI's dbSNP database

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Hypotonia, weakness, and pontocerebellar hypoplasia in siblings

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Activation of cytotoxic T lymphocytes against CML28-bearing tumors by dendritic cells transduced with a recombinant adeno-associated virus encoding the CML28 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

CML28 is a broadly immunogenic antigen, which is overexpressed in tumor cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Anterior horn cell disease and olivopontocerebellar hypoplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Anterior horn cell disease associated with pontocerebellar hypoplasia in infants

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Antinuclear antibody with distinct specificity for polymyositis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Autopsy case of later-onset pontocerebellar hypoplasia type 1: pontine atrophy and pyramidal tract involvement.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Cerebellar hypoplasia in Werdnig-Hoffmann disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366034

Amyotrophic cerebellar hypoplasia: a specific form of infantile spinal atrophy.

30 May 2018

1 reference

Pontocerebellar Hypoplasia Type 1: New Leads for an Earlier Diagnosis

21 January 2018

1 reference

Pontocerebellar hypoplasia type 1.

21 January 2018

1 reference

TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.

21 January 2018

1 reference

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.

21 January 2018

1 reference

Proneural gene-linked neurogenesis in zebrafish cerebellum.

21 January 2018

1 reference

Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy

21 January 2018

1 reference

12 December 2020

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

12 December 2020

[Pontocerebellar hypoplasia type I and mitochondrial pathology]

1 reference

12 December 2020

1 reference

12 December 2020

Familial pontocerebellar hypoplasia type I with anterior horn cell disease

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.2254

1 reference

Dimensions Publication ID

1741649

1022774728

0 references

Fatcat ID

release_oei4xvvmw5ewpjct5zdf674xpq

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/oei4xvvmw5ewpjct5zdf674xpq

24 November 2022

mapped directly with Wikidata item

1741649

1 reference

1 reference

1 reference