Dario Ronchi

Dario Ronchi

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Dario Ronchi

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Novel mutations in DNA2 associated with myopathy and mtDNA instability.

Ann Clin Transl Neurol 2019 Sep 2;6(9):1893-1899. Epub 2019 Sep 2.

Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1002/acn3.50888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764641PMC
September 2019

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

Parkinsonism Relat Disord 2019 Jun 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

Rhabdomyolysis-Associated Acute Kidney Injury.

Am J Kidney Dis 2018 06;71(6):A12-A14

Department of Nephrology, Dialysis and Transplantation, Fondazione IRCCS Policlinico San Matteo and University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1053/j.ajkd.2018.03.009DOI Listing
June 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

Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.

Brain 2018 01;141(1):e4

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

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http://dx.doi.org/10.1093/brain/awx302DOI Listing
January 2018

Linezolid-induced lactic acidosis: the thin line between bacterial and mitochondrial ribosomes.

Expert Opin Drug Saf 2017 Jul 1;16(7):833-843. Epub 2017 Jun 1.

a Dipartimento di Anestesia, Rianimazione ed Emergenza-Urgenza , Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico , Milan , Italy.

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http://dx.doi.org/10.1080/14740338.2017.1335305DOI Listing
July 2017

Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease.

Parkinsonism Relat Disord 2017 06 9;39:87-88. Epub 2017 Mar 9.

IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, via Francesco Sforza 35, 20122, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.03.007DOI Listing
June 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

Mutational analysis of COQ2 in patients with MSA in Italy.

Neurobiol Aging 2016 09 7;45:213.e1-213.e2. Epub 2016 Jun 7.

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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http://dx.doi.org/10.1016/j.neurobiolaging.2016.05.022DOI Listing
September 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

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

J Mol Neurosci 2016 Jul 22;59(3):351-9. Epub 2016 Apr 22.

Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, I.R.C.C.S. Foundation Ca' Granda, Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12031-016-0739-2DOI Listing
July 2016

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

Stroke 2016 07 31;47(7):1702-9. Epub 2016 May 31.

From the Department of Cerebrovascular Disease, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy (A.B., G.B.B., E.A.P., N.T.); Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (H.S.M.); Department of Bio-Medical Informatics, University of Pavia, Pavia, Italy (S.Q.); Department of Inherited Cardiovascular Disease, Foundation IRCCS Policlinico San Matteo, Pavia, Italy (E.A., M.G.); Neurology Unit, Department of Neuroscience and Sensory Organs, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy (S.L., L.C.); Neurology and Stroke Unit, Department of Urgency (G.M., A.C.), Department of Genetics (C.C., G.G.), and Brain MRI 3T Research Center (P.V.), IRCCS Foundation Casimiro Mondino Neurological Institute, Pavia, Italy; Department of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Foundation C, Besta Neurological Institute, Milan, Italy (F.T., C.G., S.B.); Department of Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy (S.P., L.M.); Department of Genomics for Human Disease Diagnosis and Laboratory of Clinical Molecular Biology, IRCCS San Raffaele hospital, Milan, Italy (P.C., M.F.); University Vita-Salute, Milano, Italy (M.F.); Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy (S.C., D.R., G.P.C.); Neurology Unit, Department of Neuroscience and Sensory Organs, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan, Milan, Italy (S.C., D.R., G.P.C.); Department of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy (M.T.B.); Center for amyloidosis, Department of medical Thecnologies, IRCCS Foundation San Matteo Policlinico, Pavia, Italy (L.O., G.M.); Vascular Neurology - Spedali Civili, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy (A. Pezzini, A. Padovani); Stroke Unit, Departmen

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http://dx.doi.org/10.1161/STROKEAHA.115.012281DOI Listing
July 2016

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Neurology 2016 07 8;87(1):71-6. Epub 2016 Jun 8.

From the Dipartimento di Biochimica Biofisica e Patologia Generale (M.S., G.D.F., A. Torella, A.G., T.G., F.D.V.B., G.E., G.P., V.N.), Seconda Università di Napoli; Telethon Institute of Genetics and Medicine (M.S., G.D.F., A. Torella, M. Mutarelli, V.S.M., A.G., T.G., G.E., V.N.), Pozzuoli; U.O.C. Neurologia Pediatrica e Malattie Muscolari (C.F., C.M., C.B.), IRCCS Istituto Giannina Gaslini, Genova; Centro Dino Ferrari, Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti (F.M., D.R., G.P.C.), and Neuromuscular and Rare Disease Unit, Dipartimento di Neuroscienze (M. Moggio), Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan; Dipartimento di Neuroscienze (M. Fanin, E.P.), Università di Padova; Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche (L.R., L.S.), Università degli Studi di Napoli "Federico II," Napoli; Dipartimento di Medicina Clinica e Sperimentale (G.R., G.S.), Università degli Studi di Pisa; Medicina Molecolare (G.A., F.M.S.), IRCCS Fondazione Stella Maris, Pisa; Dipartimento di Medicina Sperimentale (L. Passamano, P.D., R.P., L. Politano) and Dipartimento di Scienze Mediche, Chirurgiche, Neurologiche, Metaboliche, e dell'Invecchiamento (O.F., S.S., G.D.I.), Seconda Università di Napoli; Dipartimento di Neuroscienze (A.R., M. Mora, L.M.), Istituto Besta, Milano; Don Carlo Gnocchi ONLUS Foundation (G.T.), Milano; Dipartimento di Neuroscienze (A.D., E.B.), IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy; Center for Medical Genetics (S.J., K.C.) and Department of Neurology (J.D.B.), Ghent University Hospital, Belgium; Dipartimento di Neuroscienze (O.M., C.R., S.M., A. Toscano), Università degli Studi di Messina, Italy; Folkhälsan Institute of Genetics (A.E., P.H., B.U.), University of Helsinki, Finland; Section for Neuromuscular Diseases and Neuropathies (M. Filosto), Unit of Clinical Neurology, University Hospital 'Spedali Civili,' Brescia, Italy; Neuromusc

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http://dx.doi.org/10.1212/WNL.0000000000002800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932234PMC
July 2016

SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis.

Front Cell Neurosci 2015 25;9:336. Epub 2015 Aug 25.

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/10.3389/fncel.2015.00336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4548205PMC
September 2015

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

BMC Neurol 2015 Sep 24;15:172. Epub 2015 Sep 24.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, via F. Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1186/s12883-015-0428-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582941PMC
September 2015

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

Brain 2015 Aug 8;138(Pt 8):e372. Epub 2015 Jan 8.

1 Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy

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http://brain.oxfordjournals.org/content/brain/early/2015/01/
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http://www.brain.oxfordjournals.org/lookup/doi/10.1093/brain
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http://dx.doi.org/10.1093/brain/awu384DOI Listing
August 2015

Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability.

Int J Mol Sci 2015 Aug 5;16(8):18054-76. Epub 2015 Aug 5.

Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, via Francesco Sforza 35, Milan 20122, Italy.

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http://dx.doi.org/10.3390/ijms160818054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581235PMC
August 2015

Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype.

J Mol Neurosci 2015 May 9;56(1):212-5. Epub 2015 Jan 9.

Neurology Unit, Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12031-014-0483-4DOI Listing
May 2015

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

Mitochondrial fusion proteins and human diseases.

Neurol Res Int 2013 27;2013:293893. Epub 2013 May 27.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1155/2013/293893DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3678461PMC
June 2013

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

Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy.

Sci Transl Med 2012 Dec;4(165):165ra162

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan 20135, Italy.

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http://dx.doi.org/10.1126/scitranslmed.3004108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722730PMC
December 2012

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.

Hum Mol Genet 2012 Aug 16;21(16):3568-74. Epub 2012 May 16.

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tübingen 72076, Germany.

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http://dx.doi.org/10.1093/hmg/dds188DOI Listing
August 2012

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

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms: Experimental Neurology 2011; 229: 214-225.

Ann Neurosci 2011 Oct;18(4):156-7

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

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http://dx.doi.org/10.5214/ans.0972.7531.1118407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116957PMC
October 2011

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

Spinal cord calcification in an early-onset progressive leukoencephalopathy.

J Child Neurol 2011 Jul 22;26(7):876-80. Epub 2011 Mar 22.

Child Neurology and Psychiatry Unit, IRCCS C. Mondino National Institute of Neurology Foundation, Pavia, Italy.

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http://dx.doi.org/10.1177/0883073810390038DOI Listing
July 2011

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms.

Exp Neurol 2011 Jun 2;229(2):214-25. Epub 2011 Feb 2.

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.expneurol.2011.01.017DOI Listing
June 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

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