Lista de obras -

A de novo GLI3 mutation in a patient with acrocallosal syndrome ⬇️

artículo científico publicado el 30 de abril de 2013

A mitochondrial tRNA Val gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes ⬇️

artículo científico publicado el 1 de enero de 1998

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands ⬇️

artículo científico publicado el 6 de abril de 2013

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

artículo científico publicado en 2007

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Combined cardiological and neurological abnormalities due to filamin A gene mutation ⬇️

artículo científico publicado el 22 de agosto de 2010

De novo mtDNA point mutations are common and have a low recurrence risk.

artículo científico publicado en 2016

Duplication of the proteolipid protein gene is the major cause of Pelizaeus‐Merzbacher disease ⬇️

artículo científico publicado el 1 de junio de 1998

Facial‐muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy ⬇️

artículo científico publicado el 19 de octubre de 2011

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

artículo científico publicado en 2018

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

artículo científico publicado en 2016

Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes ⬇️

artículo científico publicado el 1 de julio de 1998

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities ⬇️

artículo científico publicado el 17 de marzo de 2011

Long‐term follow‐up and treatment in nine boys with X‐linked creatine transporter defect ⬇️

artículo científico publicado el 10 de mayo de 2011

Lung disease in FLNA mutation: Confirmatory report ⬇️

artículo científico publicado el 29 de diciembre de 2010

Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities ⬇️

artículo científico publicado el 1 de julio de 1997

Molecular Cloning and Characterization of the Human Mitochondrial NADH:Oxidoreductase 10-kDa Gene (NDUFV3) ⬇️

artículo científico publicado el 15 de octubre de 1997

Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene ⬇️

artículo científico publicado el 10 de abril de 1995

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis

scientific article published on 31 October 2018

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

artículo científico publicado en 2017

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

scientific article published on 06 January 2020

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

artículo científico publicado en 2015

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.