Lista de obras -

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

artículo científico publicado en 2007

A new form of leukoencephalopathy with calcifications and cysts with nonrecessive inheritance and absence of gadolinium enhancement.

artículo científico publicado en 2012

A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency

artículo científico publicado en 2006

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review

artículo científico publicado en 2016

Acute urinary retention due to a novel collagen COL4A1 mutation

artículo científico publicado en 2010

Amyloid imaging by 18F-florbetaben PET in a patient with isolated microbleeds and leukoencephalopathy

artículo científico publicado en 2015

COL4A1 mutation revealed by an isolated brain hemorrhage.

artículo científico publicado en 2013

COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.

artículo científico publicado en 2012

COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy

artículo científico publicado en 2014

Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.

artículo científico publicado en 2014

Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty

artículo científico publicado en 2013

Fetal intracerebral hemorrhage and cataract: think COL4A1

artículo científico publicado en 2014

First characterization of a large deletion of the PDHA 1 gene.

artículo científico publicado en 2005

Intracerebral hemorrhage and COL4A1 mutations, from preterm infants to adult patients

artículo científico publicado en 2009

Isolated Lacunar Infarct: An Early Clinical Presentation of CADASIL?

artículo científico publicado en 2013

Late diagnosis of COL4A1 mutation and problematic vascular risk factor management.

artículo científico publicado en 2014

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

artículo científico publicado en 2011

Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.

artículo científico publicado en 2003

Optical Coherence Tomography Angiography of Familial Retinal Arteriolar Tortuosity

artículo científico publicado en 2018

Proteomic Consequences of a Human Mitochondrial tRNA Mutation beyond the Frame of Mitochondrial Translation ⬇️

artículo científico publicado el 24 de abril de 2003

Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.

artículo científico publicado en 2003

The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis

artículo científico publicado en 2005

Lista de obras de

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

A new form of leukoencephalopathy with calcifications and cysts with nonrecessive inheritance and absence of gadolinium enhancement.

A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review

Acute urinary retention due to a novel collagen COL4A1 mutation

Amyloid imaging by 18F-florbetaben PET in a patient with isolated microbleeds and leukoencephalopathy

COL4A1 mutation revealed by an isolated brain hemorrhage.

COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.

COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy

Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.

Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty

Fetal intracerebral hemorrhage and cataract: think COL4A1

First characterization of a large deletion of the PDHA 1 gene.

Intracerebral hemorrhage and COL4A1 mutations, from preterm infants to adult patients

Isolated Lacunar Infarct: An Early Clinical Presentation of CADASIL?

Late diagnosis of COL4A1 mutation and problematic vascular risk factor management.

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.

Optical Coherence Tomography Angiography of Familial Retinal Arteriolar Tortuosity

Proteomic Consequences of a Human Mitochondrial tRNA Mutation beyond the Frame of Mitochondrial Translation ⬇️

Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.

The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis