Lista de obras - Anna Ardissone - Dominio Público Uruguay

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

artículo científico publicado en 2016

A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.

artículo científico publicado en 2013

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

artículo científico publicado en 2015

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

artículo científico publicado en 2014

Childhood onset of acquired neuromyotonia: association with a ganglioneuroma.

artículo científico publicado en 2015

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

artículo científico publicado en 2018

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

scientific article published on 19 July 2018

Double-trouble in pediatric neurology: Myotonia congenita combined with charcot-marie-tooth disease type 1a

artículo científico publicado en 2014

Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration.

artículo científico publicado en 2016

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

artículo científico publicado en 2018

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

artículo científico publicado en 2016

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

artículo científico publicado en 2015

Mitochondrial dysfunction in central nervous system white matter disorders

artículo científico publicado en 2014

Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

artículo científico publicado en 2015

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

artículo científico publicado en 2014

Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

artículo científico publicado en 2016

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

artículo científico publicado en 2016

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

artículo científico publicado en 2017

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

artículo científico publicado en 2013

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

artículo científico publicado en 2016

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.

artículo científico publicado en 2016

Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease

artículo científico publicado en 2016

Lista de obras de Anna Ardissone

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Childhood onset of acquired neuromyotonia: association with a ganglioneuroma.

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

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

Double-trouble in pediatric neurology: Myotonia congenita combined with charcot-marie-tooth disease type 1a

Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration.

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

Mitochondrial dysfunction in central nervous system white matter disorders

Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.

Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease