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
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
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S2Tab_EDS_variant_genes
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
A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers-Danlos and Long COVID-19 Syndromes.
Wilson GN
Current Issues in Molecular Biology, 2023
37504295 (PubMed )
Supplement: cimb-45-00379-s001.zip › cimb-2463302-supplementary.xlsx › S2Tab_EDS_variant_genes
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
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.
Levin SW et al.
The Lancet. Neurology, 2014
Abstracts of the XLVII International Symposium of the ISCEV (International Society for Clinical Electrophysiology of Vision). Abano Terme-Padova, Italy. July 6-10, 2009.
Unknown Author
Documenta Ophthalmologica. Advances in Ophthalmology, 2009
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
Waliany S et al.
Human Mutation, 2000
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
Salonen T et al.
Human Mutation, 2000
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE et al.
Human Mutation, 1999
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