(Q35906336)

11 August 2017

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. (English)

1 reference

amyotrophic lateral sclerosis

11 August 2017

1 reference

23

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49

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11 August 2017

48

Guy A Rouleau

0 references

Athina Soragia Gkazi

4

Athina Soragia Gkazi

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Jacqueline de Belleroche

22

Jacqueline de Belleroche

0 references

Diane McKenna-Yasek

26

Diane McKenna-Yasek

0 references

Wouter van Rheenen

34

Wouter van Rheenen

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Emma Scotter

Emma L Scotter

7

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Kelly L Williams

Kelly L Williams

43

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Simon Topp

Simon Topp

5

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Barbara Castellotti

Barbara Castellotti

21

0 references

Russell McLaughlin

Russell L McLaughlin

27

0 references

Bradley N. Smith

Bradley N Smith

1

0 references

Nicola Ticozzi

Nicola Ticozzi

2

0 references

Caroline Vance

Caroline Vance

12

0 references

Stefania Corti

Stefania Corti

38

0 references

Stefano Duga

Stefano Duga

37

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Cristina Cereda

Cristina Cereda

39

0 references

Cinzia Gellera

Cinzia Gellera

61

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Claire Troakes

Claire Troakes

14

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Kevin Talbot

Kevin Talbot

56

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Martin R. Turner

Martin R Turner

55

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Giuseppe Lauria

Giuseppe Lauria

36

0 references

Pamela Shaw

Pamela J Shaw

54

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Patrick A Dion

46

Patrick A Dion

1 reference

11 August 2017

Christopher E Shaw

65

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Viviana Pensato

Viviana Pensato

20

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Michael Simpson

Michael Simpson

32

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Ian P Blair

Ian P Blair

45

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Karen E Morrison

Karen E Morrison

42

0 references

Ammar Al-Chalabi

52

Ammar Al-Chalabi

1 reference

11 August 2017

Leonard H van den Berg

51

Leonard H van den Berg

1 reference

11 August 2017

50

Jan H Veldink

1 reference

11 August 2017

33

SLAGEN Consortium

1 reference

11 August 2017

40

Lucia Corrado

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11 August 2017

47

Claire S Leblond

1 reference

11 August 2017

8

Jason Kost

1 reference

11 August 2017

28

Meraida Polak

1 reference

11 August 2017

José Luis Muñoz-Blanco

31

José Luis Muñoz-Blanco

1 reference

11 August 2017

30

Jesús Esteban-Pérez

1 reference

11 August 2017

Alberto Garcia Redondo

58

Alberto García-Redondo

1 reference

11 August 2017

62

Antonia Ratti

1 reference

11 August 2017

6

Kevin P Kenna

1 reference

11 August 2017

9

Pamela Keagle

1 reference

11 August 2017

15

Cinzia Tiloca

1 reference

11 August 2017

16

Safa Al-Sarraj

1 reference

11 August 2017

25

Peter C Sapp

1 reference

11 August 2017

29

Seneshaw Asress

1 reference

11 August 2017

35

Frank P Diekstra

1 reference

11 August 2017

60

Jonathan D Glass

1 reference

11 August 2017

66

John E Landers

1 reference

11 August 2017

11

Daniela Calini

1 reference

11 August 2017

53

Hardev Pall

1 reference

11 August 2017

3

Claudia Fallini

1 reference

11 August 2017

19

Claudia Colombrita

1 reference

11 August 2017

63

Robert H Brown

1 reference

11 August 2017

Jack W Miller

10

1 reference

11 August 2017

Eric W Danielson

13

1 reference

11 August 2017

Elizabeth A Lewis

17

1 reference

11 August 2017

Andrew King

18

1 reference

11 August 2017

Anneloor L M A ten Asbroek

24

1 reference

11 August 2017

Gianni Sorarù

41

1 reference

11 August 2017

Garth A Nicholson

44

1 reference

11 August 2017

Franco Taroni

57

1 reference

11 August 2017

Zheyang Wu

59

1 reference

11 August 2017

Vincenzo Silani

64

1 reference

11 August 2017

language of work or name

English

0 references

publication date

22 October 2014

1 reference

11 August 2017

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84

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2

1 reference

11 August 2017

324-331

1 reference

describes a project that uses

11 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4521390/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Effects of tubulin acetylation and tubulin acetyltransferase binding on microtubule structure

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

In search of low-frequency and rare variants affecting complex traits

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

ArrayExpress update--trends in database growth and links to data analysis tools

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Extensive genetics of ALS: a population-based study in Italy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Molecular Basis for Specific Regulation of Neuronal Kinesin-3 Motors by Doublecortin Family Proteins

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Exome sequencing and the genetic basis of complex traits

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Computational and statistical approaches to analyzing variants identified by exome sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Unlocking Mendelian disease using exome sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

High-efficiency transfection of cultured primary motor neurons to study protein localization, trafficking, and function

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

In vivo destabilization of dynamic microtubules by HDAC6-mediated deacetylation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

A missense mutation in Tbce causes progressive motor neuronopathy in mice

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Microtubules containing acetylated alpha-tubulin in mammalian cells in culture

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Isolation of separate mRNAs for alpha- and beta-tubulin and characterization of the corresponding in vitro translation products.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Mutant dynactin in motor neuron disease.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4521390

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25374358

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEURON.2014.09.027

1 reference

11 August 2017

1 reference

11 August 2017

1 reference