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List of works by Davide Tonduti

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

scientific article

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

scientific article

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

scientific article published on May 2015

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

scientific article published on 20 December 2013

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies

scientific article published on 7 October 2013

COL4A1 mutations associated with a characteristic pattern of intracranial calcification

scientific article published in December 2011

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

scientific article published on 29 August 2012

Calcifying leukoencephalopathies: new overlapping phenotypes

scientific article published on 14 March 2012

Case definition and classification of leukodystrophies and leukoencephalopathies

scientific article

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders

scientific article

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

scientific article

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report

scientific article

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome

scientific article

Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations

scientific article

Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.

scientific article

Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.

scientific article published on 25 January 2016

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

scientific article published in April 2016

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

scientific article published on 16 August 2018

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

scientific article

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

scientific article published on 26 May 2019

More than hypomyelination in Pol-III disorder

scientific article published on January 2013

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

scientific article

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

scientific article published on 18 November 2015

Neurotransmitter abnormalities and response to supplementation in SPG11.

scientific article

New spastic paraplegia phenotype associated to mutation of NFU1.

scientific article published on 8 February 2015

Novel and emerging treatments for Aicardi-Goutières syndrome

scientific article published on 06 January 2020

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers.

scientific article published on 24 January 2013

Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency

scientific article published on 22 July 2019

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

scientific article published on 27 October 2011

Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy

scientific article published on 22 March 2011

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

scientific article

Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders

scientific article

Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease

scientific article published on 7 January 2016

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

scientific article published on 23 November 2020

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