Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit
G Yoon, R Westmacott, L MacMillan, N Quercia… - Case …, 2009 - casereports.bmj.com
Ataxia with oculomotor apraxia type 1 (AOA1) is a recently described autosomal-recessive
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit
G Yoon, R Westmacott, L MacMillan… - Journal of …, 2008 - search.proquest.com
Test name Normative mean (SD) Patient's performance Qualitative description Age
equivalent** WPPSI-III FSIQ* 100 (15) 69 Impaired WPPSI-III VIQ 100 (15) 77 Borderline …
equivalent** WPPSI-III FSIQ* 100 (15) 69 Impaired WPPSI-III VIQ 100 (15) 77 Borderline …
[引用][C] Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit
G Yoon, R Westmacott, L MacMillan… - Journal of Neurology …, 2008 - cir.nii.ac.jp
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe
phenotype and cognitive deficit | CiNii Research CiNii 国立情報学研究所 学術情報ナビゲータ[サイニィ …
phenotype and cognitive deficit | CiNii Research CiNii 国立情報学研究所 学術情報ナビゲータ[サイニィ …
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit
G Yoon, R Westmacott, L MacMillan… - Journal of Neurology …, 2008 - jnnp.bmj.com
DISCUSSION We describe a patient with homozygous deletion of the APTX gene, who
presents with rapid cognitive and neurological decline. Deletion of the APTX gene has been …
presents with rapid cognitive and neurological decline. Deletion of the APTX gene has been …
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit
G Yoon, R Westmacott, L Macmillan… - BMJ case …, 2009 - pubmed.ncbi.nlm.nih.gov
Ataxia with oculomotor apraxia type 1 (AOA1) is a recently described autosomal-recessive
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.
G Yoon, R Westmacott, L Macmillan, N Quercia… - BMJ Case …, 2009 - europepmc.org
Ataxia with oculomotor apraxia type 1 (AOA1) is a recently described autosomal-recessive
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …
[PDF][PDF] Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit
SS O'Sullivan, JL Holton, LA Massey… - J Neurol Neurosurg …, 2008 - academia.edu
Ataxia with oculomotor apraxia type 1 (AOA1) is a recently described autosomalrecessive
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …
[PDF][PDF] Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit
SS O'Sullivan, JL Holton, LA Massey… - J Neurol Neurosurg …, 2008 - Citeseer
Ataxia with oculomotor apraxia type 1 (AOA1) is a recently described autosomalrecessive
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …
[PDF][PDF] Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit
SS O'Sullivan, JL Holton, LA Massey… - J Neurol Neurosurg …, 2008 - researchgate.net
Ataxia with oculomotor apraxia type 1 (AOA1) is a recently described autosomalrecessive
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …
[PDF][PDF] Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit
SS O'Sullivan, JL Holton, LA Massey… - J Neurol Neurosurg …, 2008 - academia.edu
Ataxia with oculomotor apraxia type 1 (AOA1) is a recently described autosomalrecessive
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …