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Human Molecular Genetics
|
April 22, 2008
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome
Andrea Balreira, Paulo Gaspar, Daniel Caiola, et al.
The FEBS Journal
|
December 24, 2014
Improving the accuracy of recombinant protein production through integration of bioinformatics, statistical and mass spectrometry methodologies
Lapo Ragionieri, Rui Vitorino, Joerg Frommlet, et al.
Journal of Parkinson'S Disease
|
October 10, 2019
Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees
Miguel Fernandes Gago, Olga Azevedo, Andreia Guimarães, et al.
International Journal of Molecular Sciences
|
May 7, 2025
Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease
Maria Eduarda Moutinho, Mariana Gonçalves, Ana Joana Duarte, et al.
International Journal of Molecular Sciences
|
February 13, 2025
mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis
Juliana Inês Santos, Mariana Gonçalves, Matilde Barbosa Almeida, et al.
Journal of Lipid Research
|
November 12, 2013
Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis
Paulo Gaspar, Wouter W Kallemeijn, Anneke Strijland, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 16, 2014
LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance
Michelle Rothaug, Friederike Zunke, Joseph R Mazzulli, et al.
Molecular Genetics and Metabolism
|
January 12, 2016
Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders
Maria J Ferraz, André R A Marques, Paulo Gaspar, et al.
Orphanet Journal of Rare Diseases
|
June 18, 2026
Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II
Mariana Gonçalves, Marisa Encarnação, Luciana Moreira, et al.
Molecular Genetics and Metabolism
|
September 15, 2019
Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype
Olga Azevedo, Andreas Gal, Rui Faria, et al.
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Search research articles
Search
Showing results (11-20 of 28) with videos related to
Sort By:
Page
of 3
Human Molecular Genetics
|
April 22, 2008
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome
Andrea Balreira, Paulo Gaspar, Daniel Caiola, et al.
The FEBS Journal
|
December 24, 2014
Improving the accuracy of recombinant protein production through integration of bioinformatics, statistical and mass spectrometry methodologies
Lapo Ragionieri, Rui Vitorino, Joerg Frommlet, et al.
Journal of Parkinson'S Disease
|
October 10, 2019
Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees
Miguel Fernandes Gago, Olga Azevedo, Andreia Guimarães, et al.
International Journal of Molecular Sciences
|
May 7, 2025
Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease
Maria Eduarda Moutinho, Mariana Gonçalves, Ana Joana Duarte, et al.
International Journal of Molecular Sciences
|
February 13, 2025
mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis
Juliana Inês Santos, Mariana Gonçalves, Matilde Barbosa Almeida, et al.
Journal of Lipid Research
|
November 12, 2013
Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis
Paulo Gaspar, Wouter W Kallemeijn, Anneke Strijland, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 16, 2014
LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance
Michelle Rothaug, Friederike Zunke, Joseph R Mazzulli, et al.
Molecular Genetics and Metabolism
|
January 12, 2016
Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders
Maria J Ferraz, André R A Marques, Paulo Gaspar, et al.
Orphanet Journal of Rare Diseases
|
June 18, 2026
Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II
Mariana Gonçalves, Marisa Encarnação, Luciana Moreira, et al.
Molecular Genetics and Metabolism
|
September 15, 2019
Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype
Olga Azevedo, Andreas Gal, Rui Faria, et al.
Page
of 3