(Q47168134)

10 January 2018

title

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia (English)

1 reference

10 January 2018

Joana R Loureiro

2

0 references

Isabel Silveira

Isabel Silveira

21

0 references

Jorge Sequeiros

Jorge Sequeiros

18

0 references

Guy A. Rouleau

13

Guy A Rouleau

1 reference

10 January 2018

Ana I Seixas

1

0 references

José Bessa

José Bessa

16

0 references

Peter Heutink

17

Peter Heutink

1 reference

10 January 2018

Cristina Costa

3

1 reference

10 January 2018

Andrés Ordóñez-Ugalde

4

1 reference

10 January 2018

Hugo Marcelino

5

1 reference

10 January 2018

Cláudia L Oliveira

6

1 reference

10 January 2018

José L Loureiro

7

1 reference

10 January 2018

Ashutosh Dhingra

8

1 reference

10 January 2018

Eva Brandão

9

1 reference

10 January 2018

Vitor T Cruz

10

1 reference

10 January 2018

Angela Timóteo

11

1 reference

10 January 2018

Beatriz Quintáns

12

1 reference

10 January 2018

Patrizia Rizzu

14

1 reference

10 January 2018

Ángel Carracedo

15

1 reference

10 January 2018

Maria J Sobrido

19

1 reference

10 January 2018

Paula Coutinho

20

1 reference

10 January 2018

language of work or name

English

0 references

publication date

1 July 2017

1 reference

10 January 2018

American Journal of Human Genetics

published in

1 reference

10 January 2018

volume

101

1 reference

10 January 2018

issue

1

1 reference

10 January 2018

page(s)

87-103

1 reference

10 January 2018

New developments in RAN translation: insights from multiple diseases

cites work

1 reference

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Reelin Regulates the Maturation of Dendritic Spines, Synaptogenesis and Glial Ensheathment of Newborn Granule Cells.

23 May 2018

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Unstable repeat expansions in neurodegenerative diseases: nucleocytoplasmic transport emerges on the scene

23 May 2018

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Abnormalities in synaptic dynamics during development in a mouse model of spinocerebellar ataxia type 1.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells

23 May 2018

1 reference

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ELOVL5 mutations cause spinocerebellar ataxia 38

23 May 2018

1 reference

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A promoter-level mammalian expression atlas

23 May 2018

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New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Efficient genome editing in zebrafish using a CRISPR-Cas system

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Fiji: an open-source platform for biological-image analysis

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

A matter of life or death: how microsatellites emerge in and vanish from the human genome

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Epidemiology and population genetics of degenerative ataxias

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Cellular toxicity of expanded RNA repeats: focus on RNA foci

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities!

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Non-ATG-initiated translation directed by microsatellite expansions

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

RNA-mediated neurodegeneration in repeat expansion disorders

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Repeat expansion disease: progress and puzzles in disease pathogenesis

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Emerging pathogenic pathways in the spinocerebellar ataxias

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

The gene encoding disabled-1 (DAB1), the intracellular adaptor of the Reelin pathway, reveals unusual complexity in human and mouse

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Cerebellar disorganization characteristic of reeler in scrambler mutant mice despite presence of reelin.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Scrambler and yotari disrupt the disabled gene and produce a reeler-like phenotype in mice

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Mouse disabled (mDab1): a Src binding protein implicated in neuronal development

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

FXTAS, SCA10, and SCA17 in American patients with movement disorders.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501871

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

14 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28686858

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2017.06.007

1 reference

10 January 2018

PMC publication ID

5501871

1 reference

10 January 2018

PubMed ID

28686858

1 reference

10 January 2018