Publications by authors named "Daria Diodato"

48Publications

Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.

Neuroradiology 2020 Sep 30. Epub 2020 Sep 30.

Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, P.zza Sant'Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s00234-020-02573-yDOI Listing
September 2020

Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.

Neuroradiology 2020 Oct 22;62(10):1315-1321. Epub 2020 Jul 22.

Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, P.zza Sant'Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s00234-020-02501-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479017PMC
October 2020

A wearable video-oculography based evaluation of saccades and respective clinical correlates in patients with early onset ataxia.

J Neurosci Methods 2020 May 20;338:108697. Epub 2020 Mar 20.

Department of Neuroscience - Unit of Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Rome - Via Torre Di Palidoro s.n.c. 00050, Palidoro, Rome, Italy.

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http://dx.doi.org/10.1016/j.jneumeth.2020.108697DOI Listing
May 2020

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

Neuroradiology 2020 02 14;62(2):133-134. Epub 2019 Dec 14.

Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, Piazza Sant'Onofrio 4, IRCCS, 00100, Rome, Italy.

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http://dx.doi.org/10.1007/s00234-019-02344-4DOI Listing
February 2020

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

Neuroradiology 2020 Feb 4;62(2):241-249. Epub 2019 Nov 4.

Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00100, Rome, Italy.

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http://dx.doi.org/10.1007/s00234-019-02302-0DOI Listing
February 2020

Early neurodevelopmental characterization in children with cobalamin C/defect.

J Inherit Metab Dis 2020 03 16;43(2):367-374. Epub 2020 Jan 16.

Pediatric Neurology, Department of Human and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy.

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http://dx.doi.org/10.1002/jimd.12171DOI Listing
March 2020

Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.

Orphanet J Rare Dis 2019 08 23;14(1):208. Epub 2019 Aug 23.

Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1186/s13023-019-1181-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708179PMC
August 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy.

Neurology 2018 09 17;91(12):565-567. Epub 2018 Aug 17.

From Bambino Gesù Children's Hospital (D.D., G.O., S.P., D. Maiorani, D. Martinelli, F.D., R.T., M.D., C.D.-V.), IRCCS; and Catholic University (G.O.), Fondazione Policlinico Agostino Gemelli, Rome, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006209DOI Listing
September 2018

Biomarkers for mitochondrial energy metabolism diseases.

Essays Biochem 2018 07 20;62(3):443-454. Epub 2018 Jul 20.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Children's Hospital Bambino Gesù, Rome, Italy

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http://dx.doi.org/10.1042/EBC20170111DOI Listing
July 2018

The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders.

Clin Chim Acta 2018 Jun 10;481:156-160. Epub 2018 Mar 10.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS (Institute for Treatment and Research), Viale di S. Paolo 15, 00146 Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2018.03.002DOI Listing
June 2018

founder mutation in the Roma population causes recessive variant of H-ABC.

Neurology 2017 Oct 20;89(17):1821-1828. Epub 2017 Sep 20.

From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664304PMC
October 2017

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

Mol Genet Metab Rep 2017 Mar 15;10:24-27. Epub 2016 Dec 15.

Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20126 Milan, Italy.

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http://dx.doi.org/10.1016/j.ymgmr.2016.11.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5217772PMC
March 2017

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

Pediatr Neurol 2017 01 13;66:59-62. Epub 2016 Sep 13.

Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.09.003DOI Listing
January 2017

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

Brain 2016 Apr 25;139(Pt 4):1045-51. Epub 2016 Feb 25.

Department of Surgery and Transplantation, Bambino Gesù Children's Research Hospital IRCCS, Rome, Italy.

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http://dx.doi.org/10.1093/brain/aww013DOI Listing
April 2016

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

JIMD Rep 2015 13;22:115-20. Epub 2015 Mar 13.

Unit of Child Neurology, The Foundation "Carlo Besta" Neurological Institute (IRCCS), Via Celoria 11, 20133, Milan, Italy,

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http://dx.doi.org/10.1007/8904_2015_419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486273PMC
July 2015

Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology 2014 Jun 7;82(23):2063-71. Epub 2014 May 7.

From the Department of Life Sciences (C.D., E.B., I.F.), University of Parma; Unit of Molecular Neurogenetics (D.D., L.M., C.L., D.G.), SOSD Genetics of Neurodegenerative and Metabolic Diseases (C.M.), and Departments of Clinical Neurosciences (E.S.) and Neuroradiology (M.S.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Department of Child Neurology (S.H.K., E.M.H., T.E.M.A., N.I.W., M.S.v.d.K.), Department of Clinical Chemistry, Metabolic Unit (G.S.S.), Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Technical University, Munich; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Molecular and Human Genetics (L.-J.W.), Baylor College of Medicine, Houston, TX; Department of Genetics (K.C.), and Center for Genetic Medicine Research, Department of Neurology (A.V.), Children's National Medical Center, Washington, DC; Department of Clinical Genetics (A.C.), Liverpool Hospital, Sydney, Australia; Neurology Department (H.R.), Centro Hospitalar São João, and Department of Clinical Neuroscience and Mental Health, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Center (K.Ő.), United Laboratories, Tartu University Clinics, Estonia; Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Mitochondrial Biology Unit-MRC (M.Z.), Cambridge, UK.

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http://www.neurology.org/content/82/23/2063.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000049
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000000497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118500PMC
June 2014

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

Int J Cell Biol 2014 4;2014:787956. Epub 2014 Feb 4.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute "C. Besta", Via Temolo 4, 20126 Milan, Italy.

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http://dx.doi.org/10.1155/2014/787956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932222PMC
June 2014

MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.

Neuromuscul Disord 2012 Nov 23;22(11):990-4. Epub 2012 Jul 23.

Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico Carlo Besta - IRCCS, via Temolo 4, 20126 Milano, Italy.

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http://dx.doi.org/10.1016/j.nmd.2012.06.003DOI Listing
November 2012

The mitochondrial brain: From mitochondrial genome to neurodegeneration.

Biochim Biophys Acta 2010 Jan 6;1802(1):111-21. Epub 2009 Aug 6.

Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, NE24HH, UK.

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http://dx.doi.org/10.1016/j.bbadis.2009.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795853PMC
January 2010