Lista de obras - Leslie Matalonga - Dominio Público Uruguay

A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus

artículo científico publicado en 2018

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

artículo científico publicado en 2015

Alazami syndrome: the first case of papillary thyroid carcinoma

scientific article published on 28 October 2019

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

artículo científico publicado en 2020

Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction.

artículo científico publicado en 2018

Discovery of a novel noniminosugar acid α glucosidase chaperone series

artículo científico publicado en 2012

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons

artículo científico publicado en 2015

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

artículo científico publicado en 2021

Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI

scientific article published on 10 April 2019

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

scientific article published on 01 May 2022

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

artículo científico publicado en 2019

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

scientific journal article

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

artículo científico publicado en 2013

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

artículo científico publicado en 2012

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.

artículo científico publicado en 2012

Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.

artículo científico publicado en 2017

Small molecules as therapeutic agents for inborn errors of metabolism

artículo científico publicado en 2016

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

artículo científico publicado en 2021

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

artículo científico publicado en 2021

Solving unsolved rare neurological diseases-a Solve-RD viewpoint

artículo científico publicado en 2021

Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease

artículo científico publicado en 2013

Lista de obras de Leslie Matalonga

A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

Alazami syndrome: the first case of papillary thyroid carcinoma

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction.

Discovery of a novel noniminosugar acid α glucosidase chaperone series

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.

Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.

Small molecules as therapeutic agents for inborn errors of metabolism

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Solving unsolved rare neurological diseases-a Solve-RD viewpoint

Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease