C. Bessa

发表

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

Renee M. Brielmann, R. Morimoto, P. Maciel, 2015, Brain : a journal of neurology.

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

J. Ferreira, P. Cabral, A. Guimarães, 2006, Molecular genetics and metabolism.

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

B. Ylstra, F. Lopes, P. Maciel, 2013, Orphanet Journal of Rare Diseases.

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2 p 13 . 2

B. Ylstra, F. Lopes, P. Maciel, 2013 .

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

R. Boustany, A. Guimarães, E. Pinto, 2003, Journal of Neurology.

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

P. Maciel, C. Bessa, A. Rodrigues, 2013, Molecular Neurobiology.

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

N. Sousa, P. Marques, A. Carvalho, 2018, Cellular and Molecular Life Sciences.

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations

A. Jalanko, C. Heine, A. Kyttälä, 2010, Human mutation.

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

A. Guimarães, C. Bessa, L. Lacerda, 2008, Molecular genetics and metabolism.

Molecular Genetics of Intellectual Disability

F. Lopes, P. Maciel, C. Bessa, 2012 .

Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology.

R. Boustany, C. Ferreira, M. S. Sá Miranda, 2006, Biochimica et biophysica acta.

Neurotherapeutic effect of Hyptis spp. leaf extracts in Caenorhabditis elegans models of tauopathy and polyglutamine disease: role of the glutathione redox cycle.

A. Dias, P. Maciel, F. G. Silva, 2020, Free radical biology & medicine.

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

P. Maciel, C. Bessa, A. Rodrigues, 2013, Molecular Neurobiology.

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

D. Stephan, M. MacDonald, J. Espinola, 2003, Human mutation.

Using C . elegans to Decipher the Cellular and Molecular 5 Mechanisms Underlying Neurodevelopmental Disorders

P. Maciel, C. Bessa, A. Rodrigues, 2013 .