Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
40589786 (PubMed )
Supplement: Table_1.xlsx › Hoja_1
Copper homeostasis and cuproptosis: implications for neurodegenerative diseases.
Tao F et al.
Frontiers in Aging Neuroscience, 2025
Copper Metabolism and Cuproptosis: Molecular Mechanisms and Therapeutic Perspectives in Neurodegenerative Diseases.
Ban XX et al.
Current Medical Science, 2024
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
37563452 (PubMed )
Supplement: 41390_2023_2767_MOESM1_ESM.pdf
Ethics in pre-ART genetics: a missed X-linked Menkes disease case.
Gerdes AA et al.
Journal of Assisted Reproduction and Genetics, 2023
Stem Cell Models and Gene Targeting for Human Motor Neuron Diseases.
Karpe Y et al.
Pharmaceuticals (basel, Switzerland), 2021
The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.
Bakkar N et al.
Neurobiology of Disease, 2021
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_II.docx
CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual.
Yun Y et al.
Communications Biology, 2020
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