Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS

Rosa V Rademakers; Marka Van Blitterswijk

doi:10.1016/j.neuron.2014.10.002

Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS

Rosa V Rademakers, Marka Van Blitterswijk

Neuroscience

Research output: Contribution to journal › Article

7 Citations (Scopus)

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 language	English (US)
Pages (from-to)	241-243
Number of pages	3
Journal	Neuron
Volume	84
Issue number	2
DOIs	https://doi.org/10.1016/j.neuron.2014.10.002
State	Published - 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

Rademakers, R. V., & Van Blitterswijk, M. (2014). Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS. Neuron, 84(2), 241-243. https://doi.org/10.1016/j.neuron.2014.10.002

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 journal › Article

Rademakers, RV & Van Blitterswijk, M 2014, 'Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS', Neuron, vol. 84, no. 2, pp. 241-243. https://doi.org/10.1016/j.neuron.2014.10.002

Rademakers RV , Van Blitterswijk M. Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS. Neuron. 2014 Oct 22;84(2):241-243. https://doi.org/10.1016/j.neuron.2014.10.002

Rademakers, Rosa V ; Van Blitterswijk, Marka. / Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS. In: Neuron. 2014 ; Vol. 84, No. 2. pp. 241-243.

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10.1016/j.neuron.2014.10.002