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List of works by Carlos Bessa

CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.

scientific article published on 23 October 2007

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

scientific article

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

scientific article

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

scientific article

Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease

scientific article

Sorting nexin 3 mutation impairs development and neuronal function in Caenorhabditis elegans

scientific article published in December 2017

Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

scientific article

Using C. elegans to Decipher the Cellular and Molecular Mechanisms Underlying Neurodevelopmental Disorders ⬇️

scientific article published on March 14, 2013

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