about
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease.Advances and pitfalls of cell therapy in metabolic leukodystrophies.Systemic delivery of bone marrow-derived mesenchymal stromal cells diminishes neuropathology in a mouse model of Krabbe's disease.Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant.Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.Primary bone marrow mesenchymal stromal cells rescue the axonal phenotype of Twitcher mice.CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.CNS Axons Globally Increase Axonal Transport after Peripheral Conditioning
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P50
description
researcher ORCID ID = 0000-0001-6277-6400
@en
wetenschapper
@nl
name
Carla Andreia Teixeira
@ast
Carla Andreia Teixeira
@en
Carla Andreia Teixeira
@es
Carla Andreia Teixeira
@nl
type
label
Carla Andreia Teixeira
@ast
Carla Andreia Teixeira
@en
Carla Andreia Teixeira
@es
Carla Andreia Teixeira
@nl
prefLabel
Carla Andreia Teixeira
@ast
Carla Andreia Teixeira
@en
Carla Andreia Teixeira
@es
Carla Andreia Teixeira
@nl
P1153
14058872700
P21
P31
P496
0000-0001-6277-6400