Hereditary ataxias and paraparesias: clinical and genetic update
L Parodi, G Coarelli, G Stevanin, A Brice… - Current opinion in …, 2018 - journals.lww.com
The increase of HSPs and HCAs-related phenotypes and the continuous discovery of genes
complicate clinical diagnostic in practice but, at the same time, it helps highlighting common …
complicate clinical diagnostic in practice but, at the same time, it helps highlighting common …
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and …
Objectives Genetics of epilepsy are highly heterogeneous and complex. Lesions detected
involve genes encoding various types of channels, transcription factors, and other proteins …
involve genes encoding various types of channels, transcription factors, and other proteins …
Graph-based multi-modality integration for prediction of cancer subtype and severity
Personalised cancer screening before therapy paves the way toward improving diagnostic
accuracy and treatment outcomes. Most approaches are limited to a single data type and do …
accuracy and treatment outcomes. Most approaches are limited to a single data type and do …
miR-124 coordinates metabolic regulators acting at early stages of human neurogenesis
G Son, Y Na, Y Kim, JH Son, GD Clemenson… - Communications …, 2024 - nature.com
Metabolic dysregulation of neurons is associated with diverse human brain disorders.
Metabolic reprogramming occurs during neuronal differentiation, but it is not fully understood …
Metabolic reprogramming occurs during neuronal differentiation, but it is not fully understood …
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia
H Hengel, R Keimer, W Deigendesch, A Rieß… - Clinical …, 2018 - Wiley Online Library
Various genetic defects can cause intellectual and developmental disabilities (IDDs). Often
IDD is a symptom of a more complex neurodevelopmental or neurodegenerative syndrome …
IDD is a symptom of a more complex neurodevelopmental or neurodegenerative syndrome …
GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates
The glutamate pyruvate transaminase 2 (GPT2) gene produces a nuclear-encoded
mitochondrial enzyme that catalyzes the reversible transfer of an amino group from …
mitochondrial enzyme that catalyzes the reversible transfer of an amino group from …
A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family
Abstract Intellectual disability (ID) affects 1–3% of the general population worldwide. Genetic
factors play an undeniable role in the etiology of Non-Syndromic Intellectual disability (NS …
factors play an undeniable role in the etiology of Non-Syndromic Intellectual disability (NS …
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability
J Liu, B Chen, Y Liu, J Kong, B Zhang, L Han… - European Journal of …, 2022 - Elsevier
Recessive mutations in glutamate pyruvate transaminase 2 (GPT2) have recently been
found to be associated with intellectual and developmental disability (IDD). In this study, we …
found to be associated with intellectual and developmental disability (IDD). In this study, we …
[引用][C] Demyelinating motor neuropathy associated with a homozygous GPT2 pathogenic variant
L Ruaud, B Keren, R Debs, C Mignot… - Muscle & …, 2021 - Wiley Online Library
GPT2, also known as alanine aminotransferase 2 (ALT2), encodes one of the two nuclear-
encoded mitochondrial enzymes that reversibly catalyzes transamination between alanine …
encoded mitochondrial enzymes that reversibly catalyzes transamination between alanine …