Publications by authors named "Eleonora Lamantea"

63Publications

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

Expanding the molecular and phenotypic spectrum of truncating mutations.

Neurol Genet 2020 Feb 7;6(1):e381. Epub 2020 Jan 7.

Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, "C. Besta," Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984135PMC
February 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

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

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.

Turk J Haematol 2017 12 23;34(4):376-377. Epub 2017 Aug 23.

Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy.

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http://dx.doi.org/10.4274/tjh.2017.0231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774363PMC
December 2017

C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome.

Acta Neurol Belg 2017 12 20;117(4):947-949. Epub 2017 May 20.

Neuroradiology Service, University Hospitals of Modena, Modena, Italy.

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http://dx.doi.org/10.1007/s13760-017-0793-8DOI Listing
December 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

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

Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.

J Neurol 2015 May 21;262(5):1216-27. Epub 2015 Mar 21.

Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Via Olgettina, 60, 20132, Milan, Italy.

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http://dx.doi.org/10.1007/s00415-015-7696-5DOI Listing
May 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 new mutation in GJC2 associated with subclinical leukodystrophy.

J Neurol 2014 Oct 25;261(10):1929-38. Epub 2014 Jul 25.

Departments of Neurology and Physiology and Pharmacology, SUNY Downstate, 450 Clarkson Avenue, Brooklyn, NY, 11203, USA,

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http://dx.doi.org/10.1007/s00415-014-7429-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4301586PMC
October 2014

Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

J Neurol 2013 Jun 29;260(6):1617-23. Epub 2013 Jan 29.

Unit of Neurology VIII, Fondazione IRCCS Istituto Neurologico C. Besta, via Celoria 11, 20133, Milan, Italy.

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http://link.springer.com/10.1007/s00415-013-6844-z
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http://dx.doi.org/10.1007/s00415-013-6844-zDOI Listing
June 2013

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

Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation.

J Neurol Sci 2011 Jan 12;300(1-2):165-8. Epub 2010 Oct 12.

IRCCS Foundation, C. Besta Neurological Institute, Via Celoria 11, 20133 Milano, Italy.

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http://dx.doi.org/10.1016/j.jns.2010.09.022DOI Listing
January 2011

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

Brain 2009 Feb 4;132(Pt 2):426-38. Epub 2008 Dec 4.

Department of Neurology, University of Pennsylvania School of Medicine, Room 464 Stemmler Hall, Philadelphia, PA 19104-6077, USA.

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http://dx.doi.org/10.1093/brain/awn328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2640216PMC
February 2009

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.

Neuromuscul Disord 2008 Jun 27;18(6):465-70. Epub 2008 May 27.

Department of Neuroscience, University of Modena, Modena, Italy.

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http://dx.doi.org/10.1016/j.nmd.2008.03.013DOI Listing
June 2008

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.

Brain 2007 Jul 29;130(Pt 7):1894-904. Epub 2007 May 29.

Unit of Molecular Neurogenetics, Neurological Institute C. Besta Foundation IRCCS, via Libero Temolo 4, 20126 Milano, Italy.

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http://dx.doi.org/10.1093/brain/awm114DOI Listing
July 2007

Effects of riboflavin in children with complex II deficiency.

Brain Dev 2006 Oct 5;28(9):576-81. Epub 2006 Jun 5.

Department of Child Neurology, Istituto Nazionale Neurologico C. Besta, Milano, Italy.

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http://dx.doi.org/10.1016/j.braindev.2006.04.001DOI Listing
October 2006

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Brain 2005 Apr 2;128(Pt 4):723-31. Epub 2005 Feb 2.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Institute of Neurology, Milano, Italy.

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http://dx.doi.org/10.1093/brain/awh410DOI Listing
April 2005

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Am J Hum Genet 2004 Feb 19;74(2):239-52. Epub 2004 Jan 19.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181922PMC
http://dx.doi.org/10.1086/381653DOI Listing
February 2004

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.

Hum Mol Genet 2003 Feb;12(4):399-413

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, Istituto Nazionale Neurologico C. Besta-IRCCS, Milano, Italy.

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http://dx.doi.org/10.1093/hmg/ddg038DOI Listing
February 2003

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Ann Neurol 2002 Aug;52(2):211-9

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

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http://dx.doi.org/10.1002/ana.10278DOI Listing
August 2002

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

Neuromuscul Disord 2002 Jan;12(1):49-52

Division of Biochemistry and Genetics, National Neurological Institute C. Besta via Celoria, 11. 20133 Milan, Italy.

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http://dx.doi.org/10.1016/s0960-8966(01)00244-9DOI Listing
January 2002