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) |
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Pages (from-to) | 241-243 |
Number of pages | 3 |
Journal | Neuron |
Volume | 84 |
Issue number | 2 |
DOIs | |
State | Published - Oct 22 2014 |
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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 journal › Article
}
TY - JOUR
T1 - Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS
AU - Rademakers, Rosa V
AU - Van Blitterswijk, Marka
PY - 2014/10/22
Y1 - 2014/10/22
N2 - 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.
AB - 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.
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U2 - 10.1016/j.neuron.2014.10.002
DO - 10.1016/j.neuron.2014.10.002
M3 - Article
C2 - 25374348
AN - SCOPUS:84908236505
VL - 84
SP - 241
EP - 243
JO - Neuron
JF - Neuron
SN - 0896-6273
IS - 2
ER -