Lista de obras -

AAV vector integration sites in mouse hepatocellular carcinoma.

artículo científico publicado en 2007

ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model

artículo científico publicado en 2011

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

artículo científico publicado en 2011

Clinical response to persistent, low-level beta-glucuronidase expression in the murine model of mucopolysaccharidosis type VII.

artículo científico publicado en 2007

Controlling the Release of Neurotrophin-3 and Chondroitinase ABC Enhances the Efficacy of Nerve Guidance Conduits

artículo científico publicado en 2020

Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome

artículo científico publicado en 2007

Fetal Brain-directed AAV Gene Therapy Results in Rapid, Robust, and Persistent Transduction of Mouse Choroid Plexus Epithelia

artículo científico publicado en 2013

Gene Therapy for the Treatment of Neurological Disorders: Amyotrophic Lateral Sclerosis.

artículo científico publicado en 2016

Gene, Stem Cell, and Alternative Therapies for SCA 1

artículo científico publicado en 2016

Increased frequency of congenital heart defects in Menkes disease

artículo científico publicado en 2012

Intracerebroventricular delivery of self-complementary adeno-associated virus serotype 9 to the adult rat brain.

artículo científico publicado en 2016

L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model

artículo científico publicado en 2012

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.

artículo científico publicado en 2012

Molecular correlates of epilepsy in early diagnosed and treated Menkes disease

artículo científico publicado en 2010

Neonatal diagnosis and treatment of Menkes disease

artículo científico publicado en 2008

Observed incidence of tumorigenesis in long-term rodent studies of rAAV vectors.

artículo científico publicado en 2001

Prenatal diagnostic conundrum involving a novel ATP7A duplication

artículo científico publicado en 2012

Progress in gene and cell therapies for the neuronal ceroid lipofuscinoses

article

Somatic mosaicism in Menkes disease suggests choroid plexus‐mediated copper transport to the developing brain ⬇️

artículo científico publicado el 1 de octubre de 2010

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.

artículo científico publicado en 2009

Lista de obras de

AAV vector integration sites in mouse hepatocellular carcinoma.

ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

Clinical response to persistent, low-level beta-glucuronidase expression in the murine model of mucopolysaccharidosis type VII.

Controlling the Release of Neurotrophin-3 and Chondroitinase ABC Enhances the Efficacy of Nerve Guidance Conduits

Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome

Fetal Brain-directed AAV Gene Therapy Results in Rapid, Robust, and Persistent Transduction of Mouse Choroid Plexus Epithelia

Gene Therapy for the Treatment of Neurological Disorders: Amyotrophic Lateral Sclerosis.

Gene, Stem Cell, and Alternative Therapies for SCA 1

Increased frequency of congenital heart defects in Menkes disease

Intracerebroventricular delivery of self-complementary adeno-associated virus serotype 9 to the adult rat brain.

L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.

Molecular correlates of epilepsy in early diagnosed and treated Menkes disease

Neonatal diagnosis and treatment of Menkes disease

Observed incidence of tumorigenesis in long-term rodent studies of rAAV vectors.

Prenatal diagnostic conundrum involving a novel ATP7A duplication

Progress in gene and cell therapies for the neuronal ceroid lipofuscinoses

Somatic mosaicism in Menkes disease suggests choroid plexus‐mediated copper transport to the developing brain ⬇️

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.