Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS

Research output: Contribution to journalArticle

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Abstract

Identifying disease genes implicated in late-onset neurodegenerative disorders can be challenging due to the lack of DNA samples from multiple affected family members. To overcome this limitation, Smith etal. (2014) report in this issue of Neuron the first exome-wide rare variant analysis in unrelated familial amyotrophic lateral sclerosis (ALS) patients associating TUBA4A with ALS. Identifying disease genes implicated in late-onset neurodegenerative disorders can be challenging due to the lack of DNA samples from multiple affected family members. To overcome this limitation Smith etal. (2014) report in this issue of Neuron the first exome-wide rare variant analysis in unrelated familial amyotrophic lateral sclerosis (ALS) patients associating TUBA4A with ALS.

Original languageEnglish (US)
Pages (from-to)241-243
Number of pages3
JournalNeuron
Volume84
Issue number2
DOIs
StatePublished - Oct 22 2014

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Exome
Amyotrophic Lateral Sclerosis
Neurodegenerative Diseases
Neurons
DNA
Genes
Late Onset Disorders
Amyotrophic lateral sclerosis 1

ASJC Scopus subject areas

  • Neuroscience(all)
  • Medicine(all)

Cite this

Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS. / Rademakers, Rosa V; Van Blitterswijk, Marka.

In: Neuron, Vol. 84, No. 2, 22.10.2014, p. 241-243.

Research output: Contribution to journalArticle

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