Publications by authors named "Daniele Ghezzi"

85Publications

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.

Hum Mutat 2020 Jul 11. Epub 2020 Jul 11.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.1002/humu.24081DOI Listing
July 2020

Epileptic phenotypes in children with early-onset mitochondrial diseases.

Acta Neurol Scand 2019 Sep 6;140(3):184-193. Epub 2019 Jun 6.

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1111/ane.13130DOI Listing
September 2019

New missense variants of NDUFA11 associated with late-onset myopathy.

Muscle Nerve 2019 08 30;60(2):E11-E14. Epub 2019 May 30.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1002/mus.26511DOI Listing
August 2019

Clinical and Biochemical Features in a Patient With Gene Alteration.

Front Genet 2018 7;9:625. Epub 2018 Dec 7.

Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.3389/fgene.2018.00625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292958PMC
December 2018

Human diseases associated with defects in assembly of OXPHOS complexes.

Essays Biochem 2018 07 20;62(3):271-286. Epub 2018 Jul 20.

Medical Research Council - Mitochondrial Biology Unit, University of Cambridge, Cambridge, U.K.

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http://dx.doi.org/10.1042/EBC20170099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056716PMC
July 2018

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

Eur J Med Genet 2018 Oct 3;61(10):581-584. Epub 2018 Apr 3.

Molecular Neurogenetics, Foundation IRCCS Neurological Institute Besta, Milan, Italy; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.03.011DOI Listing
October 2018

Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

Metab Brain Dis 2018 06 23;33(3):805-812. Epub 2018 Jan 23.

Pediatric Neurology Unit, Department of Women's and Children's Health, University Hospital of Padua, Padua, Italy.

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http://dx.doi.org/10.1007/s11011-017-0181-3DOI Listing
June 2018

Functionally pathogenic variants in vitro may not manifest a phenotype in vivo.

Neurol Genet 2017 Aug 14;3(4):e162. Epub 2017 Jul 14.

Baylor Research Institute (N.M., B.L., R.S.), Baylor Scott and White Health, Dallas, TX; Unit of Molecular Neurogenetics (A.N., D.G.), Foundation IRCCS Institute of Neurology "Besta," Milan, Italy; Mitochondrial Biology Unit (A.R.), Medical Research Council, Cambridge, United Kingdom; Department of Bioinformatics (B.C.), University of Texas Southwestern Medical Center, Dallas; and Department of Neurology (A.V.), George Washington University School of Medicine, Children's National Health, DC.

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http://dx.doi.org/10.1212/NXG.0000000000000162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511247PMC
August 2017

Clinicopathologic and molecular spectrum of -related mitochondrial disease.

Neurol Genet 2017 Jun 2;3(3):e149. Epub 2017 May 2.

MRC Centre for Neuromuscular Diseases (E.B., O.V.P., A.M., A.H., J.L.H., H.H., M.G.H., R.D.S.P.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (A.M., A.M.P., J.L.H., H.H., M.G.H.), Division of Neuropathology (J.L.H.), Department of Clinical Neuroscience (J.-W.T., A.S., I.J.H.), UCL Institute of Neurology; Neurometabolic Unit (I.H.), Neurogenetics Unit (C.E.W., M.G.S.), Department of Neuro-ophthalmology (G.T.P.), National Hospital for Neurology and Neurosurgery, London; Nuffield Department of Obstetrics and Gynaecology (J.P.), University of Oxford; MRC-Mitochondrial Biology Unit (M.Z.), Cambridge, UK; Unit of Molecular Neurogenetics (D.G.), Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan, Italy; Oxford Medical Genetics Laboratories (J.T., C.S., C.F.), Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, UK; Department of Neurology (M.A.K.), Nizam's Institute of Medical Sciences; CSIR-Centre for Cellular and Molecular Biology (A.P., K.T.), Hyderabad, Telangana, India; MRC Mill Hill Laboratory (I.J.H.), London, UK; Biodonostia Research Institute (I.J.H.), San Sebastián, Spain; and Department of Basic and Clinical Neuroscience (R.D.S.P.), Institute of Psychiatry, Psychology and Neuroscience, King's College London, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413961PMC
June 2017

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

Hum Mutat 2016 09 11;37(9):898-903. Epub 2016 Jul 11.

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

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http://dx.doi.org/10.1002/humu.23033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108486PMC
September 2016

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

Biochim Biophys Acta 2016 Aug 8;1857(8):1326-1335. Epub 2016 Mar 8.

Mitochondrial Biology Unit, Medical Research Council, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2016.02.022DOI Listing
August 2016

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

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders.

J Child Neurol 2015 Nov 23;30(13):1800-5. Epub 2015 Apr 23.

Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS, Milan, Italy

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http://dx.doi.org/10.1177/0883073815581608DOI Listing
November 2015

A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy.

EMBO Mol Med 2015 Jul;7(7):918-29

Molecular Neurogenetics Unit, Foundation IRCCS Institute of Neurology "Carlo Besta", Milan, Italy MRC Mitochondrial Biology Unit, CB2 0XY, Cambridge, UK

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http://embomolmed.embopress.org/cgi/doi/10.15252/emmm.201404
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http://dx.doi.org/10.15252/emmm.201404803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520657PMC
July 2015

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.

Front Genet 2015 11;6:78. Epub 2015 Mar 11.

Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, Foundation of the Carlo Besta Neurological Institute IRCCS, Milan, Italy.

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http://dx.doi.org/10.3389/fgene.2015.00078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356157PMC
March 2015

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

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.

Front Genet 2014 20;5:412. Epub 2014 Nov 20.

Unit of Child Neurology, Istituto Neurologico "Carlo Besta," Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Milan, Italy.

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http://dx.doi.org/10.3389/fgene.2014.00412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4238403PMC
December 2014

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction.

Eur J Paediatr Neurol 2015 Jan 18;19(1):64-8. Epub 2014 Oct 18.

Neuropediatrics Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798140017
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http://dx.doi.org/10.1016/j.ejpn.2014.10.003DOI Listing
January 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
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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

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

Neurology 2013 Oct 11;81(17):1523-30. Epub 2013 Sep 11.

From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; INSERM U692 (A.E.-L.), Université de Strasbourg, France; Unit of Molecular Neurogenetics (D.G., L.M., M.Z.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Service des Maladies Héréditaires du Métabolisme (M.C., M.M., S.P., B.M.deC.), Centre de Biotechnologie Cellulaire (I.R.), Unité de Cardiogénétique Moléculaire (D.B.), and Service de Neurobiologie (P.L.), Centre de Biologie et de Pathologie Est, CHU Lyon, Bron, France; and Département d'Anatomopathologie (B.L.), Hôpitaux Universitaires, Strasbourg, France.

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http://dx.doi.org/10.1212/WNL.0b013e3182a4a518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888171PMC
October 2013

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.

Hum Mutat 2013 Dec 23;34(12):1619-22. Epub 2013 Sep 23.

Unit of Molecular Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico "Carlo Besta", Milan, Italy.

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http://dx.doi.org/10.1002/humu.22441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4028993PMC
December 2013

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.

Mol Genet Metab 2012 Nov 7;107(3):403-8. Epub 2012 Sep 7.

Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, via Temolo 4, 20126 Milan, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2012.08.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490101PMC
November 2012

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

Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology.

Adv Exp Med Biol 2012 ;748:65-106

Carlo Besta Institute of Neurology, Milan, Italy.

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http://link.springer.com/10.1007/978-1-4614-3573-0_4
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http://dx.doi.org/10.1007/978-1-4614-3573-0_4DOI Listing
September 2012

Infantile mitochondrial encephalopathy.

Semin Fetal Neonatal Med 2011 Aug 26;16(4):205-15. Epub 2011 May 26.

Unit of Child Neurology, The 'Carlo Besta' Neurological Institute Foundation (IRCCS), via Celoria 11, 20133 Milan, Italy.

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http://mightymitty.wikispaces.com/file/view/mit3.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S1744165X1100028
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http://dx.doi.org/10.1016/j.siny.2011.04.003DOI Listing
August 2011

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

Am J Hum Genet 2010 Apr 1;86(4):639-49. Epub 2010 Apr 1.

Division of Molecular Neurogenetics, The Carlo Besta Neurological Institute Foundation, Istituto di Ricovero e Cura a Carattere Scientifico, via Temolo 4, 20126, Milan, Italy.

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http://dx.doi.org/10.1016/j.ajhg.2010.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2850437PMC
April 2010

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.

Hum Mol Genet 2010 Mar 30;19(6):1098-107. Epub 2009 Dec 30.

Department of Genetics, Biology of Microorganisms, Anthropology and Evolution, University of Parma, Parma 43100, Italy.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddp581DOI Listing
March 2010

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

Nat Genet 2009 Jun 24;41(6):654-6. Epub 2009 May 24.

Unit of Molecular Neurogenetics-Pierfranco and Luisa Mariani Center for Study of Children's Mitochondrial Disorders, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.

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http://dx.doi.org/10.1038/ng.378DOI Listing
June 2009

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.

Hum Mol Genet 2009 Mar 5;18(6):1058-64. Epub 2009 Jan 5.

Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy.

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https://hmg.oxfordjournals.org/content/18/6/1058.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddn441
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http://dx.doi.org/10.1093/hmg/ddn441DOI Listing
March 2009

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.

Am J Hum Genet 2008 Sep 4;83(3):415-23. Epub 2008 Sep 4.

Division of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan, Italy.

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http://dx.doi.org/10.1016/j.ajhg.2008.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2556431PMC
September 2008

Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.

Mov Disord 2008 Jan;23(1):28-34

Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milano, Italy.

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http://dx.doi.org/10.1002/mds.21715DOI Listing
January 2008

High frequency stimulation of the subthalamic nucleus is efficacious in Parkin disease.

J Neurol 2005 Feb;252(2):208-11

Istituto Nazionale Neurologico Carlo Besta, Via G. Celoria, 11, 20133 Milano, Italy.

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http://dx.doi.org/10.1007/s00415-005-0638-xDOI Listing
February 2005