List of works - Daria Diodato

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

scientific article

A millennium-long reconstruction of damaging hydrological events across Italy

scientific article published on 10 July 2019

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

scientific article published on 15 July 2015

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

scientific article published on 21 April 2016

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

scientific article published on 3 January 2018

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

scientific article published on 09 March 2019

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

scientific article

Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility.

scientific article

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

scientific article published on 12 March 2018

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

scientific article

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

scientific article published on 10 October 2013

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

scientific article published on 9 April 2015

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

scientific article

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

scientific article published on 01 October 2018

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

scientific article published on 01 August 2018

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

scientific article

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease

scientific article

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

scientific article

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

scientific article

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

scientific article

Novel (ovario) leukodystrophy related to AARS2 mutations

scientific article

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

scientific article

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

scientific article published on 26 October 2016

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

scientific article published on 28 November 2016

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.

scientific article

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

scientific article published on 13 September 2016

Reply to: Viability of diffusion tensor imaging for assessing retrochiasmatic involvement in Kearns-Sayre syndrome remains elusive

scientific article published on 14 December 2019

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

scholarly article by Rosalba Carrozzo published in September 2014

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

scientific journal article

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

scientific article

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

scientific article published on 13 July 2016

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

scientific article

The mitochondrial brain: From mitochondrial genome to neurodegeneration

scientific article published on 06 August 2009

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

scientific article published on 24 June 2014

Visual pathways evaluation in Kearns Sayre syndrome: a diffusion tensor imaging study

scientific article published on 04 November 2019

List of works by Daria Diodato

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

A millennium-long reconstruction of damaging hydrological events across Italy

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

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

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility.

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

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

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

Novel (ovario) leukodystrophy related to AARS2 mutations

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

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

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Reply to: Viability of diffusion tensor imaging for assessing retrochiasmatic involvement in Kearns-Sayre syndrome remains elusive

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

The mitochondrial brain: From mitochondrial genome to neurodegeneration

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

Visual pathways evaluation in Kearns Sayre syndrome: a diffusion tensor imaging study