Publications by authors named "Andrea Cortese"

69Publications

Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.

Mov Disord 2020 10;35(10):1890-1891

Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.

View Article and Find Full Text PDF
October 2020

CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions.

J Neurol 2020 Sep 10. Epub 2020 Sep 10.

Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

View Article and Find Full Text PDF
September 2020

RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia.

J Hum Genet 2020 Dec 21;65(12):1143-1147. Epub 2020 Jul 21.

Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Chuo, Yamanashi, 409-3898, Japan.

View Article and Find Full Text PDF
December 2020

[CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia].

Nervenarzt 2020 Jun;91(6):537-540

Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Ismaninger Str. 22, 81675, München, Deutschland.

View Article and Find Full Text PDF
June 2020

RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy.

Mov Disord 2020 07 24;35(7):1277-1279. Epub 2020 Apr 24.

Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.

View Article and Find Full Text PDF
July 2020

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.

Neurology 2020 01 11;94(1):e51-e61. Epub 2019 Dec 11.

From the MRC Centre for Neuromuscular Diseases (A.C., J.M.P., R.P., M.S., A.M.R., M.L., P.J.T., H.H., M.M.R.), Department of Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; and the Department of Neurology (J.E.W., M.E.S.), University of Iowa Carver College of Medicine, Iowa City.

View Article and Find Full Text PDF
January 2020

Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype.

Neurol Neuroimmunol Neuroinflamm 2020 01 21;7(1). Epub 2019 Nov 21.

From the Department of Brain and Behavioral Sciences (A.C., I.C., G.C., R.C., E.V.), University of Pavia, Pavia, Italy; Department of Neuromuscular Disease (A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neuroalgology Unit (R.L., P.D., L.P., G.L.), IRCCS Fondazione Istituto Neurologico "Carlo Besta," Milan, Italy; Department of Neurosciences (C.B., M.R., A.S.), University of Padova, Padova, Italy; IRCCS Mondino Foundation (I.C., G.C., E.Z., R.C., M.G., E.V., E.A., A.B., D.F.), Pavia, Italy; Department of Neuroscience (L.B., C.D.M., A.S.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genova, Genova, Italy; IRCCS Ospedale Policlinico San Martino (L.B., C.D.M., A.S.), Genova, Italy; Department of Neurosciences (F.M., E.S., A.T.), Odontostomatological and Reproductive Sciences, University of Naples "Federico II," Naples, Italy; Fondazione Policlinico Universitario Agostino Gemelli-IRCCS. UOC Neurologia (M.L., A.R., M.S.), Rome, Italy; Università Cattolica del Sacro Cuore (M.L., A.R., M.S.), Rome, Italy; Section of Neurology (S.F., S.M.), Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy; Department of Neurology and Stroke Unit (A.M.C.), Ospedale di Circolo/Fondazione Macchi, Varese, Italy; Department of Systems Medicine (G.A.M., G.M.), University of Rome Tor Vergata, Rome, Italy; Neurological Department (A.R.), ASST Lecco; Ospedale Treviglio ASST Bergamo Ovest (M.C.), Italy; Department of Neurology (R.F., F.C.), San Raffaele Scientific Institute, Milan, Italy; Department of Neurorehabilitation Sciences (M.C.), Casa Cura Policlinico (CCP), Milan, Italy; Department of Clinical and Experimental Medicine (A.M.), University of Messina, Messina, Italy; Department of Medicine, Surgery and Neurosciences (F.G.), University of Siena, Italy; Referral Center for Neuromuscular Diseases and ALS (L.K., E.M.), AP-HM, Timone University Hospital, Marseille, France; Université de Bordeaux (C.M.), Interdisciplinary Institute for Neuroscience, Bordeaux, France; Humanitas Clinical and Research Center (C.G., P.D., E.N.-O.), Milan University, Milan, Italy; IRCCS Centro Neurolesi "Bonino Pulejo" (C.S.), Messina, Italy; Department of Biomedical and Clinical Sciences "Luigi Sacco" (G.B., G.L.), University of Milan, Milan, Italy; and Institute for Neurosciences of Montpellier (J.D.), INSERM U1051, Montpellier University, Hopital Saint Eloi, Montpellier, France.

View Article and Find Full Text PDF
January 2020

Splenic Infarction: A Dark Side of the Nephrotic Syndrome.

Am J Med 2020 03 9;133(3):e106-e107. Epub 2019 Nov 9.

Department of Radiology, San Camillo Hospital, Rome, Italy.

View Article and Find Full Text PDF
March 2020

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.

Neuromuscul Disord 2019 10 19;29(10):747-757. Epub 2019 Aug 19.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom. Electronic address:

View Article and Find Full Text PDF
October 2019

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Neurol Genet 2019 Apr 1;5(2):e322. Epub 2019 Apr 1.

Department of Neuromuscular Diseases (A.H., A.C., M.G.H., M.M.R.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Molecular Neuroscience (A.M.P., H.H.), UCL Queen Square Institute of Neurology; Department of Neuro-ophthalmology (F.B.F.R.C.O.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Division of Neuropathology (Z.J., S.B.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Clinical and Movement Neurosciences (Z.J.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (L.D., S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Human Genetics and Hussman Institute for Human Genomics (A.P.R., S.Z.), University of Miami, FL; Department of Neurogenetics (C.E.W., J.M.P.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Neurometabolic Unit (I.P.H.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; and Department of Neurodegenerative Disease (S.B.), UCL Queen Square Institute of Neurology, London, United Kingdom.

View Article and Find Full Text PDF
April 2019

MR microneurography and quantitative T2 and DP measurements of the distal tibial nerve in CIDP.

J Neurol Sci 2019 May 11;400:15-20. Epub 2019 Mar 11.

Department of Neuroradiology, C. Mondino National Neurological Institute, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, PV, Italy.

View Article and Find Full Text PDF
May 2019

Remarkable Rituximab Response on Tremor Related to Acute-Onset Chronic Inflammatory Demyelinating Polyradiculoneuropathy in an Antineurofascin155 Immunoglobulin G4-Seropositive Patient.

Mov Disord Clin Pract 2018 Sep-Oct;5(5):559-560. Epub 2018 Aug 24.

Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genova and IRCCS, Policlinico San Martino Genova Italy.

View Article and Find Full Text PDF
August 2018

IGHMBP2 mutation associated with organ-specific autonomic dysfunction.

Neuromuscul Disord 2018 12 29;28(12):1012-1015. Epub 2018 Aug 29.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3AR, UK. Electronic address:

View Article and Find Full Text PDF
December 2018

Severe cognitive impairment in a patient with CMT2A.

J Peripher Nerv Syst 2018 Jun 26;23(2):147-148. Epub 2018 Mar 26.

MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.

View Article and Find Full Text PDF
June 2018

Efficacy of rituximab as third-line therapy in combined central and peripheral demyelination.

Neurol Clin Pract 2017 Dec;7(6):534-537

Department of Pediatrics (SS, TF), University of Pavia, IRCCS Policllinico S. Matteo Foundation; Neuroscience Consortium (EV), University of Pavia, Monza Policlinico and Pavia Mondino; Department of Neurology (EM, EV), C. Mondino National Neurological Institute; C. Mondino National Neurological Institute (AC, AL, AP, DF), Pavia, Italy; and Molecular Neuroscience (AC), University College London Institute of Neurology, UK.

View Article and Find Full Text PDF
December 2017

Predictors of outcome in a large retrospective cohort of patients with transverse myelitis.

Mult Scler 2018 11 2;24(13):1743-1752. Epub 2017 Oct 2.

Laboratory of Neuroimmunology, IRCCS C. Mondino National Neurological Institute, Pavia, Italy/Department of General Neurology, IRCCS C. Mondino National Neurological Institute, Pavia, Italy.

View Article and Find Full Text PDF
November 2018

Air pollution is associated to the multiple sclerosis inflammatory activity as measured by brain MRI.

Mult Scler 2018 10 14;24(12):1578-1584. Epub 2017 Aug 14.

Unit of Biostatistics and Clinical Epidemiology, Department of Public Health, Experimental and Forensic Medicine, University of Pavia, Pavia, Italy.

View Article and Find Full Text PDF
October 2018

Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy.

J Neurol Neurosurg Psychiatry 2017 05 10;88(5):457-458. Epub 2017 Feb 10.

Amyloidosis Research and Treatment Center, IRCCS Fondazione Policlinico San Matteo, Pavia, Italy.

View Article and Find Full Text PDF
May 2017

Neurofascin-155 as a putative antigen in combined central and peripheral demyelination.

Neurol Neuroimmunol Neuroinflamm 2016 Aug 7;3(4):e238. Epub 2016 Jun 7.

IRCCS (A.C., E.Z., C.O., S.R., N.V., E.A., A.M., E.M., D.F.), C. Mondino National Neurological Institute, Pavia, Italy; CNRS (J.J.D., C.M.), CRN2M-UMR 7286, Aix-Marseille Université; Gui de Chauliac Hospital (G.T., C.C.D.), Montpellier University Hospital Center; CHU Amiens-Picardie (P.M.), France; IRCCS Foundation (G.P., E.S., D.P.), C. Besta Neurological Institute, Milan; and University of Pavia (E.Z., A.M.), Italy.

View Article and Find Full Text PDF
August 2016

Reply.

Ann Thorac Surg 2016 Feb;101(2):826-7

Unit of Thoracic Surgery, Azienda Ospedaliera San Camillo-Forlanini, Circonvallazione, Gianicolense, 87, Rome, Italy, 00149.

View Article and Find Full Text PDF
February 2016

Diagnosis and therapy of acute disseminated encephalomyelitis and its variants.

Expert Rev Neurother 2016 22;16(1):83-101. Epub 2015 Dec 22.

a C. Mondino National Institute of Neurology Foundation , IRCCS , Pavia , Italy.

View Article and Find Full Text PDF
April 2018

Author response.

Neurology 2015 Feb;84(6):632

View Article and Find Full Text PDF
February 2015

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Neurology 2014 Jun 14;82(23):2072-6. Epub 2014 May 14.

From the IRCCS National Institute of Neurology C. Mondino Foundation (A.C., G.P., C.A.G., E.M., C.C., G. Grieco, I.R., A.M.), Pavia, Italy; Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for Neuromuscular Diseases (A.T., A.P., J.H.), and Department of Neurodegenerative Disease (P.F.), UCL Institute of Neurology, London, UK; Neuromuscular Unit (P.C., L.N., V.L., M.R., R.V., G.F., M.M.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Dino Ferrari Centre, Università di Milano, Italy; Neurology Unit (G. Grampa), Saronno Hospital, Italy; MRC Laboratory for Molecular Cell Biology (S.E.M.), Department of Genetics, Evolution and Environment, and UCL Institute of Child Health, University College London, UK; and Department of Neurological Sciences (A.M.), University of Pavia, Italy.

View Article and Find Full Text PDF
June 2014

Correlation of clinical and molecular features in spinal bulbar muscular atrophy.

Neurology 2014 Jun 9;82(23):2077-84. Epub 2014 May 9.

From the Department of Neurodegenerative Disease (P.F., L.M., T.C., E.M.C.F.), Sobell Department of Motor Neuroscience and Movement Disorders (N.N., L.G.), and MRC Centre for Neuromuscular Disease (P.F., N.N., I.S., A.C., E.M.C.F., L.G., M.G.H.), UCL Institute of Neurology, Queen Square, London; Neurogenetics Unit (S.P.), National Hospital for Neurology and Neurosurgery, Queen Square, London; and Centre for Neuroscience & Trauma (A.M.), Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, UK.

View Article and Find Full Text PDF
June 2014

Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy.

Neurobiol Aging 2014 Jun 30;35(6):1491-8. Epub 2013 Dec 30.

MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, London, UK; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK. Electronic address:

View Article and Find Full Text PDF
June 2014

Graphical modelling of molecular networks underlying sporadic inclusion body myositis.

Mol Biosyst 2013 Jul 17;9(7):1736-42. Epub 2013 Apr 17.

Centre for Bioinformatics and Systems Biology, Imperial College London, London, UK.

View Article and Find Full Text PDF
July 2013

Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study.

Amyloid 2012 Jun 2;19 Suppl 1:34-6. Epub 2012 May 2.

Amyloid Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, and Department of Molecular Medicine, University of Pavia, Pavia, Italy.

View Article and Find Full Text PDF
June 2012

Bosentan and sildenafil in the treatment of HIV-associated pulmonary hypertension.

Infect Dis Rep 2011 Sep 22;3(2):e14. Epub 2011 Nov 22.

Second Infectious Diseases Unit, L. Spallanzani National Institute for Infectious Diseases, Rome;

View Article and Find Full Text PDF
September 2011

Biliodigestive anastomosis with circular mechanical device after pancreatoduodenectomy: our experience.

Updates Surg 2011 Dec 18;63(4):253-7. Epub 2011 Aug 18.

Department of Surgery, UOC General and Oncological Surgery, AORN "S. Camillo-Forlanini", Rome, Italy.

View Article and Find Full Text PDF
December 2011

Multiple memory-guided saccades: movement memory improves the accuracy of memory-guided saccades.

Prog Brain Res 2008 ;171:425-7

Neuro-otology and Neuro-ophthalmology Laboratory, IRCCS Neurological Institute C.Mondino Foundation, Pavia, Italy.

View Article and Find Full Text PDF
January 2009