Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models.
Ziółkowska EA et al.
Science Translational Medicine, 2025
Diagnostic findings and yield of investigations for children with developmental regression.
Furley K et al.
American Journal of Medical Genetics. Part A, 2024
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.
Panjeshahi S et al.
Human Genetics, 2023
The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells.
Pezzini F et al.
Frontiers in Molecular Neuroscience, 2017
Proteomic Profiling in the Brain of CLN1 Disease Model Reveals Affected Functional Modules.
Tikka S et al.
Neuromolecular Medicine, 2016
Select a paper to view details