Lista de obras - Sandra Alves - Dominio Público Uruguay

A shortcut to the lysosome: the mannose-6-phosphate-independent pathway.

artículo científico publicado en 2012

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants

scientific article published on 01 September 2020

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients

artículo científico publicado en 2011

Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

artículo científico publicado en 2015

Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique

artículo científico publicado en 2007

Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data

artículo científico publicado en 2002

Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia.

artículo científico publicado en 2006

From bedside to cell biology: a century of history on lysosomal dysfunction.

artículo científico

From rare to common and back again: 60years of lysosomal dysfunction.

artículo científico

Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

artículo científico publicado en 2015

Glycosaminoglycan storage disorders: a review

artículo científico publicado en 2011

I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis

artículo científico publicado en 2016

Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity

artículo científico publicado en 2001

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders

artículo científico publicado en 2016

Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach

scientific article published on 10 August 2020

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients

article

Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula

artículo científico publicado en 2008

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

artículo científico publicado en 2006

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)

artículo científico publicado en 2014

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

artículo científico publicado en 2012

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient

scientific article published on 15 September 2020

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

artículo científico publicado en 2010

Outcome in acute lymphoblastic leukemia: Influence of thiopurine methyltransferase genetic polymorphisms

Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

artículo científico publicado en 2014

Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis

artículo científico publicado en 2000

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

artículo científico publicado en 2016

The GSTM1 and GSTT1 genetic polymorphisms and susceptibility to acute lymphoblastic leukemia in children from north Portugal

artículo científico publicado en 2002

The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal

artículo científico publicado en 2005

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

artículo científico publicado en 2014

Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: preliminary data from the patterns of haplotypic association with two CA repeats.

artículo científico publicado en 2004

Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations

artículo científico publicado en 2017

Lista de obras de Sandra Alves

A shortcut to the lysosome: the mannose-6-phosphate-independent pathway.

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients

Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique

Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data

Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia.

From bedside to cell biology: a century of history on lysosomal dysfunction.

From rare to common and back again: 60years of lysosomal dysfunction.

Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

Glycosaminoglycan storage disorders: a review

I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis

Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders

Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients

Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

Outcome in acute lymphoblastic leukemia: Influence of thiopurine methyltransferase genetic polymorphisms

Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

The GSTM1 and GSTT1 genetic polymorphisms and susceptibility to acute lymphoblastic leukemia in children from north Portugal

The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: preliminary data from the patterns of haplotypic association with two CA repeats.

Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations