Publications by authors named "Rosalba Carrozzo"

91Publications

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

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

Parkinsonism Relat Disord 2019 11 28;68:8-16. Epub 2019 Sep 28.

Departments of Neurosciences and Pediatrics, University of California San Diego, San Diego, CA, USA; Division of Neurology Rady Children's Hospital, San Diego, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.09.015DOI Listing
November 2019

The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.

Clin Chim Acta 2018 Nov 25;486:387-394. Epub 2018 Aug 25.

Clinical Division and Research Unit of Metabolic Diseases, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2018.08.039DOI Listing
November 2018

Biallelic mutations in early-onset, variably progressive neurodegeneration.

Neurology 2018 07 29;91(4):e319-e330. Epub 2018 Jun 29.

From the Genetics and Rare Diseases Research Division (V.M., G.C., T.R., M.D.N., A.C., F.P., R.C., M.T.), Ospedale Pediatrico Bambino Gesù; Department of Oncology and Molecular Medicine (E.F., S.M.) and Confocal Microscopy Unit (S.C.), Core Facilities, Istituto Superiore di Sanità, Rome, Italy; Center for Human Disease Modeling (Z.K., M.M.K., N.K.), Duke University School of Medicine, Durham, NC; Institutes of Neurology (G.P., S.S.) and Nuclear Medicine (D.D.G.), Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy; Department of Genetics (H.G., N.M.), Faculty of Science, Shahid Chamran University of Ahvaz; Narges Medical Genetics and Prenatal Diagnosis Laboratory (H.G., N.M., A. Sedaghat, J.Z., G.R.S.), Kianpars, Ahvaz; Research and Clinical Center for Infertility (M.D.), Yazd Reproductive Sciences Institute, Medical Genetics Research Centre (M.D., M.Y.V.M.), and Department of Medical Genetics (M.Y.V.M.), Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Department of Experimental Medicine (A.T., V.C.), Università "Sapienza," Rome, Italy; Genetics and Molecular Cell Sciences Research Centre (Y.J., R.M.), St. George's University of London, UK; Department of Paediatric Neurology (R.A.M.), Golestan Medical, Educational, and Research Center, and Department of Medical Genetics (G.R.S.), Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Iran; University of Exeter Medical School (A.R.J.), RILD, Royal Devon & Exeter Hospital, UK; and Department of Neurology (A. Sherafat), Kerman University of Medical Sciences, Iran.

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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.0000000000005869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070386PMC
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

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.

Eur J Hum Genet 2018 03 22;26(3):367-373. Epub 2018 Jan 22.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli", Rome, Italy.

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http://dx.doi.org/10.1038/s41431-017-0003-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839054PMC
March 2018

Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia.

Int J Mol Sci 2017 Oct 18;18(10). Epub 2017 Oct 18.

Unit of Neuromuscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Children's Hospital, Viale San Paolo 15, 00146 Rome, Italy.

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http://dx.doi.org/10.3390/ijms18102173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666854PMC
October 2017

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

Eur J Paediatr Neurol 2017 Nov 22;21(6):873-883. Epub 2017 Jul 22.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.07.009DOI Listing
November 2017

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.023DOI Listing
August 2017

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.

Cell Metab 2016 Feb 31;23(2):292-302. Epub 2015 Dec 31.

Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 9000 Rockville Pike, 20892, Bethesda, MD, USA. Electronic address:

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http://www.cell.com/cell-metabolism/pdf/S1550-4131(15)00620-
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http://linkinghub.elsevier.com/retrieve/pii/S155041311500620
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http://dx.doi.org/10.1016/j.cmet.2015.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4749439PMC
February 2016

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

Eur J Paediatr Neurol 2015 Sep 14;19(5):497-503. Epub 2015 May 14.

Unit of Neurology, Dept. of Pediatrics and Dept. of Neurology, Clínica las Condes, Santiago, Chile.

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http://dx.doi.org/10.1016/j.ejpn.2015.04.008DOI Listing
September 2015

Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1.

FEBS J 2014 Aug 1;281(15):3473-88. Epub 2014 Jul 1.

Department of Therapeutic Research and Medicines Evaluation, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.1111/febs.12874DOI Listing
August 2014

Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasis.

Int J Mol Sci 2014 Apr 4;15(4):5789-806. Epub 2014 Apr 4.

Unit for Neuromuscular and Neurodegenerative Diseases, Children's Hospital and Research Institute "Bambino Gesù", Piazza S. Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.3390/ijms15045789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4013596PMC
April 2014

Effects of levosimendan on mitochondrial function in patients with septic shock: a randomized trial.

Biochimie 2014 Jul 19;102:166-73. Epub 2014 Mar 19.

Department of Cardiovascular, Respiratory, Nephrological, Anesthesiological and Geriatric Sciences, University of Rome, "La Sapienza", Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03009084140008
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http://dx.doi.org/10.1016/j.biochi.2014.03.006DOI Listing
July 2014

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.

J Med Genet 2013 Feb 14;50(2):104-7. Epub 2012 Dec 14.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children’s Research Hospital, Rome, Italy

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2012-101204
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http://dx.doi.org/10.1136/jmedgenet-2012-101204DOI Listing
February 2013

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

Neurogenetics 2012 Nov 18;13(4):375-86. Epub 2012 Sep 18.

Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-012-0343-8DOI Listing
November 2012

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.

Neuropediatrics 2012 Aug 22;43(4):201-8. Epub 2012 May 22.

Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy.

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http://dx.doi.org/10.1055/s-0032-1315431DOI Listing
August 2012

Preliminary evidences on mitochondrial injury and impaired oxidative metabolism in breast cancer.

Mitochondrion 2012 May 18;12(3):363-9. Epub 2012 Feb 18.

Parasitology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.mito.2012.02.003DOI Listing
May 2012

Involvement of the mitochondrial compartment in human NCL fibroblasts.

Biochem Biophys Res Commun 2011 Dec 11;416(1-2):159-64. Epub 2011 Nov 11.

Department of Neurological, Psychological, Morphological and Motor Sciences, Divisions of Neurology (Child Neurology) and Neuropathology, University of Verona Medical School, Verona, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2011.11.016DOI Listing
December 2011

Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene.

J Bioenerg Biomembr 2011 Dec 13;43(6):683-90. Epub 2011 Oct 13.

Departamento de Biomedicina Cardiovascular, Instituto Nacional de Cardiología, Juan Badiano No 1 Tlalpan, Mexico, CP 14080, DF, Mexico.

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http://dx.doi.org/10.1007/s10863-011-9387-yDOI Listing
December 2011

Infantile-onset disorders of mitochondrial replication and protein synthesis.

J Child Neurol 2011 Jul 13;26(7):866-75. Epub 2011 May 13.

Department of Genetics, Centro de Genética Médica Jacinto de Magalhães/INSA, Porto, Portugal.

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http://dx.doi.org/10.1177/0883073811402072DOI Listing
July 2011

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

Mitochondrion 2009 Nov 8;9(6):438-42. Epub 2009 Aug 8.

Departments of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1016/j.mito.2009.08.003DOI Listing
November 2009

Clinical and audiological follow up of a family with the 8363G>A mutation in the mitochondrial DNA.

Neuromuscul Disord 2009 Apr 23;19(4):291-6. Epub 2009 Feb 23.

Department of Neurology and ORL, Sapienza University of Rome ICOT, Polo Pontino, 04100 Latina, Italy.

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http://dx.doi.org/10.1016/j.nmd.2009.01.013DOI Listing
April 2009

Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene.

J Cell Biochem 2009 Apr;106(5):878-86

Unidad de Investigacion Medica en Genetica, Centro Medico Nacional, Instituto Mexicano del Seguro Social, Mexico City, Mexico.

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http://dx.doi.org/10.1002/jcb.22055DOI Listing
April 2009

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.

Neurogenetics 2009 Apr 20;10(2):151-5. Epub 2008 Nov 20.

Molecular Medicine and Neurology, IRCCS Bambino Gesù Children's Hospital, Piazza S. Onofrio, 4 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-008-0159-8DOI Listing
April 2009

Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders.

Clin Chim Acta 2008 Dec 28;398(1-2):86-9. Epub 2008 Aug 28.

Division of Metabolism, Bambino Gesù Research Institute, Piazza S. Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2008.08.018DOI Listing
December 2008

Functional assays in high-resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines.

Electrophoresis 2007 Nov;28(21):3811-20

Molekulare Bioenergetik, Zentrum der Biologischen Chemie, Centre of Excellence Macromolecular Complexes, Universität Frankfurt, Frankfurt, Germany.

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http://dx.doi.org/10.1002/elps.200700367DOI Listing
November 2007

Infantile mitochondrial disorders.

Biosci Rep 2007 Jun;27(1-3):105-12

Molecular Medicine, IRCCS Bambino Gesù Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s10540-007-9039-yDOI Listing
June 2007

Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation.

Biochim Biophys Acta 2006 Sep-Oct;1757(9-10):1066-72. Epub 2006 May 12.

Molekulare Bioenergetik, Zentrum der Biologischen Chemie, Universitätsklinikum Frankfurt, Theodor-Stern-Kai 7, Haus 26, D-60590 Frankfurt, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S000527280600130
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http://dx.doi.org/10.1016/j.bbabio.2006.05.006DOI Listing
December 2006

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders.

Ann Neurol 2006 Feb;59(2):265-75

Unit of Molecular Medicine, Bambino Gesù Hospital and Research Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ana.20729DOI Listing
February 2006

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.

Neurogenetics 2006 Mar 12;7(1):51-7. Epub 2005 Nov 12.

Molecular Medicine, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-005-0015-zDOI Listing
March 2006

Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease.

J Biol Chem 2003 Oct 11;278(43):42588-95. Epub 2003 Aug 11.

Laboratory of Biochemistry, Children's Hospital and Research Institute Bambino Gesù, Piazza S. Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1074/jbc.M301872200DOI Listing
October 2003