Lista de obras -

A reliable cell-based assay for testing unclassified TSC2 gene variants

artículo científico publicado en 2008

Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction

artículo científico publicado en 2010

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

artículo científico publicado en 2019

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience

artículo científico publicado en 2020

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

artículo científico publicado en 2014

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity

artículo científico publicado en 2019

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

artículo científico publicado en 2012

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex

artículo científico publicado en 2012

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

artículo científico publicado en 2011

Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo

scientific journal article

Genotype and brain pathology phenotype in children with tuberous sclerosis complex

artículo científico publicado en 2016

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

artículo científico publicado en 2017

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia

artículo científico publicado en 2014

High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy

artículo científico publicado en 2018

Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

artículo científico publicado en 2014

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex

artículo científico publicado en 2009

Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex

artículo científico publicado en 2014

Modelling the neuropathology of lysosomal storage disorders through disease-specific human induced pluripotent stem cells

scientific article published on 27 April 2019

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

artículo científico publicado en 2013

PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex

artículo científico publicado en 2015

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.

artículo científico publicado en 2016

Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.

artículo científico publicado en 2014

Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease

artículo científico publicado en 2012

Response to Herbert et al

artículo científico publicado en 2017

Rheb is essential for murine development

artículo científico publicado en 2011

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

scientific article published on 08 February 2019

Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant

artículo científico publicado en 2017

Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).

artículo científico publicado en 2016

TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice.

artículo científico publicado en 2013

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

artículo científico publicado en 2015

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

artículo científico publicado en 2018

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome ⬇️

artículo científico publicado el 1 de mayo de 2003

The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits

artículo científico publicado en 2012

The genotype-phenotype correlation in Pompe disease

artículo científico publicado en 2012

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

artículo científico publicado en 2012

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

artículo científico publicado en 2015

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

scientific article published in 2023

Lista de obras de

A reliable cell-based assay for testing unclassified TSC2 gene variants

Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo

Genotype and brain pathology phenotype in children with tuberous sclerosis complex

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia

High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy

Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex

Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex

Modelling the neuropathology of lysosomal storage disorders through disease-specific human induced pluripotent stem cells

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.

Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.

Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease

Response to Herbert et al

Rheb is essential for murine development

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant

Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).

TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice.

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome ⬇️

The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits

The genotype-phenotype correlation in Pompe disease

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders