Publications by authors named "Alessandro Malandrini"

62Publications

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Neurol Genet 2019 Oct 16;5(5):e352. Epub 2019 Aug 16.

IRCCS Fondazione Stella Maris (A.R., G.A., J.B., G.B., S.L., F.M.S., D.C.), Pisa, Italy; Department of Medicine (A.M., C.B., M.T.D., A.F., F.G., S.S., N.V.), Surgery and Neurosciences, University of Siena; Department of Clinical and Experimental Medicine (C.D., G.S., D.T.), University of Pisa; Metabolic Disease Unit (M.A.D., M.S.), AOU Meyer Children Hospital, Florence; Department of Molecular and Developmental Medicine (S.G.), University of Siena, Siena; Pediatric Neurology (R.G., F.M.), AOU Meyer Children Hospital, Florence; Neurophysiopathology Multiple Sclerosis Center Hospital Binaghi (M.A.M.), Cagliari; Pediatric Neurology and Nemo Clinical Centre (E.M.), Fondazione Policlinico Universitario "A. Gemelli IRCSS", Università Cattolica del Sacro Cuore, Rome; and Department of Neurosciences (P.T.), Biomedicine and Movement Sciences, University of Verona, Italy.

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October 2019

Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report.

Neurol Sci 2019 Jun 11;40(6):1303-1306. Epub 2019 Jan 11.

Department of Medicine, Surgery and Neurosciences, University of Siena. Unit of Neurology and Neurometabolic Disorders, Azienda Ospedaliera Universitaria Senese, viale Bracci 11, 53100, Siena, Italy.

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June 2019

Discordant manifestations in Italian brothers with GNE myopathy.

J Neurol Sci 2018 03 5;386:1-3. Epub 2018 Jan 5.

Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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March 2018

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.

Eur J Hum Genet 2018 03 22;26(3):367-373. Epub 2018 Jan 22.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli", Rome, Italy.

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March 2018

Imaging of the thymus in myotonic dystrophy type 1.

Neurol Sci 2018 Feb 25;39(2):347-351. Epub 2017 Nov 25.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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February 2018

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.

J Neurol Sci 2017 Apr 27;375:198-202. Epub 2017 Jan 27.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy, Azienda Ospedaliera Universitaria Senese, Siena. Electronic address:

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April 2017

Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion.

J Neurol 2016 Jul 25;263(7):1449-51. Epub 2016 Apr 25.

Dipartimento di Medicina, Clinica Neurologica, Università degli Studi di Perugia, Ospedale S. Maria della Misericordia, 06156, Perugia, Italy.

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July 2016

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

Brain 2016 06 25;139(Pt 6):1723-34. Epub 2016 Mar 25.

1 Ecole Pratique des Hautes Etudes, EPHE, PSL université, laboratoire de neurogénétique, F-75013, Paris, France 2 Inserm, U1127, F-75013, Paris, France 3 CNRS, UMR7225, F-75013, Paris, France 4 Sorbonne Universités, UPMC Univ Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière - ICM, Pitié-Salpêtrière Hospital, F-75013, Paris, France.

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June 2016

Treatment of SPG5 with cholesterol-lowering drugs.

J Neurol 2015 Dec 14;262(12):2783-5. Epub 2015 Nov 14.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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December 2015

Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?

Neurol Sci 2015 Sep 7;36(9):1713-5. Epub 2015 Jun 7.

Department of Medicine, Surgery and Neuroscience, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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September 2015

Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed.

J Neurol Sci 2015 Feb 3;349(1-2):254-5. Epub 2015 Jan 3.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.

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February 2015

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

Neuromuscul Disord 2015 Jan 10;25(1):55-9. Epub 2014 Sep 10.

Neuromuscular Disease and Immunology, Fondazione IRCCS Istituto Neurologico "C. Besta", Milan, Italy. Electronic address:

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January 2015

Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism.

J Neurol 2014 Mar 8;261(3):617-9. Epub 2014 Feb 8.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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March 2014

A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia.

J Neurol Sci 2014 Mar 14;338(1-2):232-4. Epub 2014 Jan 14.

Dept. of Medical, Surgical and Neurological Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.

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March 2014

Homozygosity and severity of phenotypic presentation in a CADASIL family.

Neurol Sci 2014 Jan 26;35(1):91-3. Epub 2013 Nov 26.

Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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January 2014

Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome.

Mov Disord 2013 Oct 29;28(12):1751-2. Epub 2013 Apr 29.

Unit of Neurology and Neurometabolic Diseases Department of Medical, Surgical and Neurological Sciences University of Siena, Siena, Italy.

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October 2013

Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting.

Epileptic Disord 2012 Mar;14(1):85-9

Department of Neurological, Behavioural and Neurosurgical Sciences, Section of Neurological Sciences, University of Siena, Italy.

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March 2012

Dilated cardiomyopathy and inclusion body myositis.

Neurol Sci 2012 Apr 16;33(2):367-70. Epub 2011 Sep 16.

Cardiology Unit, S. Maria Annunziata Hospital, Local Health Unit, via dell'Antella 58, Florence, Italy.

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April 2012

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration.

Brain 2011 Apr;134(Pt 4):947-58

Division of Developmental Paediatrics, Child Development and Rehabilitation Centre, Oregon Health and Science University, Portland, OR 97239, USA.

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April 2011

A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features.

J Neurol Sci 2010 Oct 13;297(1-2):105-8. Epub 2010 Aug 13.

Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy.

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October 2010

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

Neurol Sci 2010 Aug 16;31(4):491-4. Epub 2010 Mar 16.

Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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August 2010

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

J Neurol 2010 Apr 13;257(4):575-9. Epub 2009 Nov 13.

Medical Genetics, Department Molecular Biology, University of Siena, Policlinico Le Scotte, viale Bracci 2, 53100, Siena, Italy.

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April 2010

Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family.

Brain Dev 2010 May 7;32(5):421-4. Epub 2009 May 7.

Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy.

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May 2010

Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis.

Brain Dev 2008 Apr 4;30(4):291-4. Epub 2007 Sep 4.

Unit of Neurometabolic Disease, Department of Neurological and Behavioural Sciences, University of Siena, Italy.

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April 2008

A case of dystonia with onset during pregnancy.

J Neurol Sci 2007 Sep 16;260(1-2):265-6. Epub 2007 May 16.

Department of Neurological and Behavioural Sciences, University of Siena, Italy.

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September 2007

A new missense mutation in caveolin-3 gene causes rippling muscle disease.

J Neurol Sci 2006 Apr 3;243(1-2):61-4. Epub 2006 Feb 3.

Department of Neurological and Behavioral Sciences, University of Siena, Italy.

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April 2006

Peripheral neuropathy in CADASIL.

J Neurol 2005 Oct 15;252(10):1206-9. Epub 2005 Apr 15.

Dept. of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.

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October 2005

A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL.

Arch Neurol 2004 Jun;61(6):942-5

Unit of Neurology and Neurometabolic Diseases, Department of Neurological and Behavioral Sciences, University of Siena, Italy.

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June 2004

Nerve growth factor expression in human dystrophic muscles.

Muscle Nerve 2003 Mar;27(3):370-3

Department of Human Pathology and Oncology, University of Siena, Via delle Scotte, 53100 Siena, Italy.

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March 2003