Associated Papers
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research.
Gnutti B et al.
Brain Sciences, 2025
C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).
Kumari R et al.
European Journal of Human Genetics : Ejhg, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG43
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.
Zhang Y et al.
Scientific Reports, 2021
33432021 (PubMed )
Supplement: 41598_2020_79694_MOESM2_ESM.xlsx › Sheet1
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives.
Peron C et al.
Frontiers in Neurology, 2021
The Downregulation of c19orf12 Negatively Affects Neuronal and Musculature Development in Zebrafish Embryos.
Mignani L et al.
Frontiers in Cell and Developmental Biology, 2020
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL et al.
Molecular Neurodegeneration, 2018
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.
Panteghini C et al.
Seminars in Pediatric Neurology, 2012
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