Publications by authors named "Andreina Bordoni"

58Publications

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.

Parkinsonism Relat Disord 2019 06 1;63:66-72. Epub 2019 Mar 1.

Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020193009
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http://dx.doi.org/10.1016/j.parkreldis.2019.02.045DOI Listing
June 2019

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1.

J Neurosci Res 2018 09;96(9):1576-1585

Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/jnr.24263DOI Listing
September 2018

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice.

Biochim Biophys Acta Mol Basis Dis 2018 10 1;1864(10):3407-3417. Epub 2018 Aug 1.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; University of Milan, Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Milan, Italy.

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http://dx.doi.org/10.1016/j.bbadis.2018.07.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134197PMC
October 2018

A de novo C19orf12 heterozygous mutation in a patient with MPAN.

Parkinsonism Relat Disord 2018 03 27;48:109-111. Epub 2017 Dec 27.

IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020173086
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http://dx.doi.org/10.1016/j.parkreldis.2017.12.025DOI Listing
March 2018

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.

Sci Rep 2017 04 6;7:46271. Epub 2017 Apr 6.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/srep46271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382781PMC
April 2017

Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.

Hum Mol Genet 2016 10 9;25(19):4266-4281. Epub 2016 Aug 9.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy

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http://hmg.oxfordjournals.org/content/early/2016/08/08/hmg.d
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http://dx.doi.org/10.1093/hmg/ddw258DOI Listing
October 2016

Changes in Whole-Body Oxygen Consumption and Skeletal Muscle Mitochondria During Linezolid-Induced Lactic Acidosis.

Crit Care Med 2016 Jul;44(7):e579-82

1Rianimazione Generale "Emma Vecla," Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy. 2Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy. 3Terapia Intensiva Generale 1, Azienda Ospedaliera Ospedale Niguarda Ca' Granda, Milan, Italy. 4U.O. Anatomia Patologica, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy. 5Dipartimento di Scienze della Salute, Università degli Studi di Milano-Bicocca, Milan, Italy.

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http://dx.doi.org/10.1097/CCM.0000000000001478DOI Listing
July 2016

Glycogen storage disease type III: A novel Agl knockout mouse model.

Biochim Biophys Acta 2014 Nov 1;1842(11):2318-28. Epub 2014 Aug 1.

Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2014.07.029DOI Listing
November 2014

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.

Neurology 2014 Jun 7;82(22):1990-8. Epub 2014 May 7.

From the Dino Ferrari Center (A.D.F., D.R., I.T., M.R., A.B., F.F., S.S., S.C., N.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan; Department of Medical Biotechnology and Translational Medicine (F.G., E.N.-O.), 2nd Neurology, Humanitas Clinical and Research Center, Rozzano, Milan; Division of Pathology (F.M.C., S.B.), Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico and Department of Pathophysiology and Transplantation, University of Milan; Departments of Molecular Medicine (A.V., E.D.M., O.Z.), Industrial and Information Engineering (R.B.), and Public Health, Neuroscience, Experimental and Forensic Medicine (M.C.), University of Pavia; Departments of Neurological Emergency (I.L., G. Micieli, O.Z.) and General Neurology (I.R., M.C.), IRCCS C. Mondino National Neurological Institute, Pavia, Italy; Mitochondrial Research Group (E.F.), Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK; and Department of Neurorehabilitation (G. Mora), IRCCS Salvatore Maugeri Foundation, Milan, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000476DOI Listing
June 2014

Postural effects on lung and chest wall volumes in late onset type II glycogenosis patients.

Respir Physiol Neurobiol 2013 May 15;186(3):308-14. Epub 2013 Mar 15.

Fonds Erasme pour la Recherche Médicale, Université Libre de Bruxelles (ULB), 1070 Brussels, Belgium.

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http://dx.doi.org/10.1016/j.resp.2013.03.004DOI Listing
May 2013

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

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.

J Neurol Sci 2012 Apr 22;315(1-2):146-9. Epub 2011 Dec 22.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1016/j.jns.2011.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315002PMC
April 2012

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.

Eur J Hum Genet 2012 Mar 21;20(3):357-60. Epub 2011 Dec 21.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/ejhg.2011.238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283170PMC
March 2012

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.

Biochem Biophys Res Commun 2011 Aug 27;412(2):245-8. Epub 2011 Jul 27.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2011.07.076DOI Listing
August 2011

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.

J Neurol 2011 Sep 12;258(9):1610-23. Epub 2011 Mar 12.

Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, I.R.C.C.S. Foundation Ca' Granda, Ospedale Maggiore Policlinico, Padiglione Ponti, Via Francesco Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1007/s00415-011-5979-zDOI Listing
September 2011

Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.

Arch Neurol 2010 Jul;67(7):849-54

Department of Neurological Sciences, "Dino Ferrari" Center, Università degli Studi di Milano, Scientific Institute for Research and Treatment Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1001/archneurol.2010.128DOI Listing
July 2010

The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment.

J Neurol Sci 2010 May 18;292(1-2):107-10. Epub 2010 Feb 18.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S0022510X1000056
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http://dx.doi.org/10.1016/j.jns.2010.01.026DOI Listing
May 2010

Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.

J Neurol Sci 2009 Jun 10;281(1-2):85-92. Epub 2009 Mar 10.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1016/j.jns.2009.01.025DOI Listing
June 2009

Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction.

J Neurol Sci 2009 Jan 8;276(1-2):170-4. Epub 2008 Nov 8.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1016/j.jns.2008.09.030DOI Listing
January 2009

Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids.

Nucleic Acids Res 2008 Oct 16;36(18):5872-81. Epub 2008 Sep 16.

Department of Molecular Cell Therapy, Center for Biotechnology and Biomedicine, Universität Leipzig, Deutscher Platz 5, 04103 Leipzig, Germany.

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http://dx.doi.org/10.1093/nar/gkn592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2566888PMC
October 2008

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

J Neurol 2008 Sep 30;255(9):1384-91. Epub 2008 Jun 30.

Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, Fondazione I.R.C.C.S. Ospedale Maggiore, Policlinico, Mangiagolli e Regina Elena, Via Sforza 35, 20122, Milano, Italy.

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http://dx.doi.org/10.1007/s00415-008-0926-3DOI Listing
September 2008

Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.

Neuromuscul Disord 2007 Dec 24;17(11-12):960-3. Epub 2007 Jul 24.

Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Italy.

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http://dx.doi.org/10.1016/j.nmd.2007.05.002DOI Listing
December 2007

A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast.

FASEB J 2006 Sep 4;20(11):1910-2. Epub 2006 Aug 4.

Scientific Institute IRCCS E. Medea, Bosisio Parini (LC), Italy.

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http://dx.doi.org/10.1096/fj.05-5635fjeDOI Listing
September 2006

Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.

Hum Mol Genet 2006 Jan 8;15(2):167-87. Epub 2005 Dec 8.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1093/hmg/ddi446DOI Listing
January 2006

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.

J Neurol Sci 2005 Dec 15;239(1):21-4. Epub 2005 Sep 15.

Fondazione IRCCS Ospedale Maggiore-Policlinico Mangiagalli e Regina Elena, Dipartimento di Neuroscienze, Centro Dino Ferrari, Via Francesco Sforza, 35-20122 Milano, Italy.

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http://dx.doi.org/10.1016/j.jns.2005.07.008DOI Listing
December 2005

Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: the confirmation in two new cases.

Mitochondrion 2004 Apr;3(5):279-83

Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, IRCCS Ospedale Maggiore Policlinico, Centro Dino Ferrari, 20122 Milan, Italy.

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http://dx.doi.org/10.1016/j.mito.2004.02.004DOI Listing
April 2004

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

Pediatr Res 2004 May 5;55(5):842-6. Epub 2004 Feb 5.

Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, IRCCS Ospedale Maggiore Policlinico, Centro di Eccellenza per le malattie Neuro-Degenerative, 20122 Milano, Italy.

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http://dx.doi.org/10.1203/01.PDR.0000117844.73436.68DOI Listing
May 2004

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.

Hum Mutat 2003 Dec;22(6):498-9

Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, I.R.C.C.S. Ospedale Maggiore Policlinico and Centro di Eccellenza per le Malattie Neurodegenerative, Milano, Italy.

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http://dx.doi.org/10.1002/humu.9203DOI Listing
December 2003

Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion.

Eur J Hum Genet 2003 Nov;11(11):896-8

Centro Dino Ferrari, Centro di eccellenza per le malattie neuro-degenerative, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, I.R.C.C.S. Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201056DOI Listing
November 2003

High mutational burden in the mtDNA control region from aged muscles: a single-fiber study.

Neurobiol Aging 2003 Oct;24(6):829-38

Centro Dino Ferrari, Centro di Eccellenza per le Malattie Neurodegenerative, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, I.R.C.C.S. Ospedale Maggiore Policlinico, Via F. Sforza, 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1016/s0197-4580(02)00233-6DOI Listing
October 2003

A collection of 33 novel human mtDNA homoplasmic variants.

Hum Mutat 2002 Nov;20(5):409

Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, I.R.C.C.S. Ospedale Maggiore Policlinico and Centro di Eccellenza per le Malattie Neurodegenerative, Milan, Italy.

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http://dx.doi.org/10.1002/humu.9079DOI Listing
November 2002

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients.

J Neurol Sci 2002 Oct;202(1-2):85-91

Department of Neurological Sciences, Centro Dino Ferrari, Padiglione Ponti, University of Milan, IRCCS Ospedale Maggiore Policlinico, 20122, Via F Sforza, 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1016/s0022-510x(02)00247-2DOI Listing
October 2002

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