Associated Papers
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
34440436 (PubMed )
Supplement: genes-12-01262-s001.zip › genes-1321555-supplementary.pdf
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.
Jilani A et al.
Jimd Reports, 2019
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin.
Mathavarajah S et al.
Cells, 2018
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
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
Pérez-Poyato MS et al.
Journal of Inherited Metabolic Disease, 2011
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
Simonati A et al.
Pediatric Neurology, 2009
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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