ALLMedicine™ Ataxia-oculomotor Apraxia Type 4 Center
Research & Reviews 2 results
https://doi.org/10.1080/15513815.2019.1686784
Fetal and Pediatric Pathology; Bitarafan F, Khodaeian M et. al.
Nov 11th, 2019 - Pathogenic variants within polynucleotide kinase 3'phosphatase (PNKP) gene cause microcephaly, seizures, and developmental delay (MCSZ) and ataxia-oculomotor apraxia type 4 (AOA4) disorders due to unrepaired DNA lesions. Whole exome sequencing was...
https://doi.org/10.1080/01677063.2017.1322079
Journal of Neurogenetics; Schiess N, Zee DS et. al.
May 29th, 2017 - The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes. We report a ...
Clinicaltrials.gov 2 results
https://doi.org/10.1080/15513815.2019.1686784
Fetal and Pediatric Pathology; Bitarafan F, Khodaeian M et. al.
Nov 11th, 2019 - Pathogenic variants within polynucleotide kinase 3'phosphatase (PNKP) gene cause microcephaly, seizures, and developmental delay (MCSZ) and ataxia-oculomotor apraxia type 4 (AOA4) disorders due to unrepaired DNA lesions. Whole exome sequencing was...
https://doi.org/10.1080/01677063.2017.1322079
Journal of Neurogenetics; Schiess N, Zee DS et. al.
May 29th, 2017 - The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes. We report a ...
