Alessandra Tessa

Alessandra Tessa

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Alessandra Tessa

Publications by authors named "Alessandra Tessa"

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SPG8 mutations in Italian families: clinical data and literature review.

Neurol Sci 2019 Dec 9. Epub 2019 Dec 9.

Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.

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http://dx.doi.org/10.1007/s10072-019-04180-zDOI Listing
December 2019

Clinical and molecular studies in two new cases of ARSACS.

Neurogenetics 2019 03 24;20(1):45-49. Epub 2019 Jan 24.

Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2 Calambrone, 56128, Pisa, Italy.

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http://link.springer.com/10.1007/s10048-019-00564-7
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http://dx.doi.org/10.1007/s10048-019-00564-7DOI Listing
March 2019

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.

Eur J Paediatr Neurol 2018 May 5;22(3):563-567. Epub 2018 Jan 5.

Department of Pediatrics, University of L'Aquila, L'Aquila, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.12.020DOI Listing
May 2018

Spinocerebellar Ataxia Type 3 in Italy: Time to Change Mind.

Neuroepidemiology 2016 19;46(4):268. Epub 2016 Mar 19.

Department of Medico-Surgical Sciences and Biotechnologies, Rome Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1159/000444642DOI Listing
March 2018

Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization.

J Cell Physiol 2018 Mar 18;233(3):2324-2331. Epub 2017 Sep 18.

Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1002/jcp.26104DOI Listing
March 2018

Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.

Neurogenetics 2018 01 6;19(1):1-8. Epub 2017 Dec 6.

Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, 56128, Pisa, Italy.

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http://dx.doi.org/10.1007/s10048-017-0532-6DOI Listing
January 2018

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Eur J Paediatr Neurol 2017 Jul 15;21(4):671-677. Epub 2017 Apr 15.

Molecular Medicine, IRCCS Stella Maris, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.04.004DOI Listing
July 2017

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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http://dx.doi.org/10.1016/j.jns.2017.01.069DOI Listing
April 2017

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

J Neurol 2016 Aug 3;263(8):1604-11. Epub 2016 Jun 3.

First Department of Pediatrics, Aghia Sophia Children's Hospital, University of Athens, Thivon and Micras Asias, 11527, Athens, Greece.

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http://dx.doi.org/10.1007/s00415-016-8179-zDOI Listing
August 2016

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

J Neurol Sci 2016 Mar 4;362:287-91. Epub 2016 Feb 4.

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

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http://dx.doi.org/10.1016/j.jns.2016.02.007DOI Listing
March 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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http://link.springer.com/content/pdf/10.1007/s00415-015-7971
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http://link.springer.com/10.1007/s00415-015-7971-5
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http://dx.doi.org/10.1007/s00415-015-7971-5DOI Listing
December 2015

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.

JIMD Rep 2016 21;28:119-126. Epub 2015 Nov 21.

Clinical genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128, Padova, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059204PMC
http://dx.doi.org/10.1007/8904_2015_514DOI Listing
November 2015

Hereditary spastic paraplegia type 11 with a very late onset.

J Neurol 2015 Aug 17;262(8):1987-9. Epub 2015 Jul 17.

Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.

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http://dx.doi.org/10.1007/s00415-015-7854-9DOI Listing
August 2015

Acute optic neuropathy associated with a novel MFN2 mutation.

J Neurol 2015 Jul 10;262(7):1678-80. Epub 2015 May 10.

Dept. Scienze e Biotecnologie Medico-Chirurgiche, Rome Sapienza University Polo Pontino, Rome, Italy,

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http://dx.doi.org/10.1007/s00415-015-7756-xDOI Listing
July 2015

De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.

Neurol Sci 2015 Jun 31;36(6):1063-4. Epub 2015 Jan 31.

Department of Medical-Surgical Sciences and Biotechnologies, Polo Pontino-Sapienza University of Rome, Latina, Italy.

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http://dx.doi.org/10.1007/s10072-015-2097-1DOI Listing
June 2015

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.

Muscle Nerve 2015 Apr 24;51(4):604-8. Epub 2015 Feb 24.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131, Naples, Italy.

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http://dx.doi.org/10.1002/mus.24467DOI Listing
April 2015

Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease.

J Neurol 2014 Sep 17;261(9):1691-4. Epub 2014 Jun 17.

Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Latina, Italy.

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http://dx.doi.org/10.1007/s00415-014-7394-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221246PMC
September 2014

Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.

J Neurol 2014 Apr 12;261(4):747-51. Epub 2014 Feb 12.

Department of Medico-Surgical Sciences and Biotechnologies, "Sapienza" University of Rome, Corso della Repubblica, 79, 04100, Latina, Italy,

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http://dx.doi.org/10.1007/s00415-014-7247-5DOI Listing
April 2014

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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http://dx.doi.org/10.1007/s00415-014-7253-7DOI Listing
March 2014

The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.

J Neurol 2014 Jan 20;261(1):52-9. Epub 2013 Oct 20.

Department of Clinical and Experimental Medicine, University of Sassari, Viale San Pietro 10, Sassari, Italy.

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http://link.springer.com/10.1007/s00415-013-7151-4
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http://dx.doi.org/10.1007/s00415-013-7151-4DOI Listing
January 2014

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

Neurol Sci 2014 Jan 7;35(1):95-7. Epub 2013 Dec 7.

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

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http://dx.doi.org/10.1007/s10072-013-1592-5DOI Listing
January 2014

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition.

Neurol Sci 2013 Sep 18;34(9):1699-701. Epub 2012 Dec 18.

Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Pz.le Spedali Civili 1, 25100, Brescia, Italy,

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http://dx.doi.org/10.1007/s10072-012-1266-8DOI Listing
September 2013

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.

J Neurol 2013 Apr 30;260(4):1116-21. Epub 2012 Nov 30.

Department of Neurological Sciences, University Federico II, Via Pansini 5, 80131 Naples, NA, Italy.

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http://dx.doi.org/10.1007/s00415-012-6770-5DOI Listing
April 2013

Molecular investigation of pediatric portuguese patients with sensorineural hearing loss.

Genet Res Int 2011 25;2011:587602. Epub 2011 Sep 25.

Genetics Department, Medical Genetics Center, National Institute of Health (INSA), Praça Pedro Nunes 88, 4099-028 Porto, Portugal.

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http://www.hindawi.com/journals/gri/2011/587602/
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http://dx.doi.org/10.4061/2011/587602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335713PMC
August 2012

Infantile childhood onset of spinocerebellar ataxia type 2.

Cerebellum 2012 Jun;11(2):526-30

Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Via Francesco Faggiana 34, Latina, Italy.

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http://dx.doi.org/10.1007/s12311-011-0315-9DOI Listing
June 2012

New findings in the ataxia of Charlevoix-Saguenay.

J Neurol 2012 May 13;259(5):869-78. Epub 2011 Oct 13.

Service of Neurology, Hospital Universitario Miguel Servet, Avenida Isabel la Católica, 1-3, 50009, Zaragoza, Spain.

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http://dx.doi.org/10.1007/s00415-011-6269-5DOI Listing
May 2012

Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI.

J Neurol 2011 Dec 29;258(12):2240-7. Epub 2011 May 29.

Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s00415-011-6106-xDOI Listing
December 2011

Involvement of the mitochondrial compartment in human NCL fibroblasts.

Biochem Biophys Res Commun 2011 Dec 11;416(1-2):159-64. Epub 2011 Nov 11.

Department of Neurological, Psychological, Morphological and Motor Sciences, Divisions of Neurology (Child Neurology) and Neuropathology, University of Verona Medical School, Verona, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2011.11.016DOI Listing
December 2011

A new Italian FHM2 family: clinical aspects and functional analysis of the disease-associated mutation.

Cephalalgia 2011 May 11;31(7):808-19. Epub 2011 Mar 11.

Department of Neurological Sciences, University Federico II of Naples, Via Sergio Pansini 5, Naples, Italy.

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http://dx.doi.org/10.1177/0333102411399351DOI Listing
May 2011

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.

Mov Disord 2011 Feb 4;26(3):553-6. Epub 2011 Mar 4.

Department of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1002/mds.23552DOI Listing
February 2011

Complex phenotype in an Italian family with a novel mutation in SPG3A.

J Neurol 2010 Mar 19;257(3):328-31. Epub 2009 Sep 19.

Department of Neurological Sciences, Federico II University, Via S. Pansini 5, 80131, Naples, Italy.

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http://dx.doi.org/10.1007/s00415-009-5311-3DOI Listing
March 2010

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity.

Neuromuscul Disord 2009 Dec 22;19(12):837-40. Epub 2009 Oct 22.

Department of Neurosciences, University of Rome-Tor Vergata and IRCCS-Fondazione S. Lucia, Via Montpellier 1, I-00135 Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2009.08.013DOI Listing
December 2009

Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.

Neuromuscul Disord 2009 Nov 20;19(11):779-83. Epub 2009 Sep 20.

Department of Neuroscience, Institute of Neurology, Catholic University, Largo Agostino Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2009.08.015DOI Listing
November 2009

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.

Pediatr Neurol 2009 Apr;40(4):271-6

Department of Neurological and Visual Sciences, University of Verona School of Medicine, Verona, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.10.018DOI Listing
April 2009

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.

Neuromuscul Disord 2009 Jan;19(1):62-5

IRCCS G. Gaslini Pediatric Institute and University of Genoa, Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2008.10.009DOI Listing
January 2009

Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family.

J Affect Disord 2008 Feb 22;106(1-2):173-7. Epub 2007 Jun 22.

Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa, Italy.

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http://dx.doi.org/10.1016/j.jad.2007.05.016DOI Listing
February 2008

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy.

Neuromuscul Disord 2008 Feb 3;18(2):153-5. Epub 2007 Dec 3.

Molecular Medicine, Bambino Gesù Children's Research Hospital, P.zza S.Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2007.09.013DOI Listing
February 2008

A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy.

Mitochondrion 2007 Dec 19;7(6):396-8. Epub 2007 Aug 19.

Instituto de Genética Médica, Jacinto de Magalhães, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.

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http://dx.doi.org/10.1016/j.mito.2007.08.002DOI Listing
December 2007

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

Biochem Biophys Res Commun 2007 Nov 25;363(4):1033-7. Epub 2007 Sep 25.

Muscular and Neurodegenerative Disease Unit, G. Gaslini Institute and University of Genova, Largo Gaslini 5, 16147 Genova, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2007.09.066DOI Listing
November 2007

Infantile mitochondrial disorders.

Biosci Rep 2007 Jun;27(1-3):105-12

Molecular Medicine, IRCCS Bambino Gesù Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s10540-007-9039-yDOI Listing
June 2007

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.

Biochem Biophys Res Commun 2007 Mar 23;354(4):937-41. Epub 2007 Jan 23.

Instituto de Genética Médica Jacinto de Magalhães, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.

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http://dx.doi.org/10.1016/j.bbrc.2007.01.068DOI Listing
March 2007

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.

Biochem Biophys Res Commun 2007 Mar 2;355(1):181-7. Epub 2007 Feb 2.

Department of Medical Biochemistry, Medical Biology and Medical Physics, University of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2007.01.140DOI Listing
March 2007

Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.

Eur J Paediatr Neurol 2006 May 8;10(3):154-6. Epub 2006 Jun 8.

Division of Infantile, Neuropsychiatry, Department of Medical and Surgical Pediatrics, University of Messina, via Consolare Valeria 98125 Messina, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2006.04.002DOI Listing
May 2006

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.

Neurogenetics 2006 Mar 12;7(1):51-7. Epub 2005 Nov 12.

Molecular Medicine, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-005-0015-zDOI Listing
March 2006

"Bartter-like" phenotype in Kearns-Sayre syndrome.

Pediatr Nephrol 2006 Mar 29;21(3):355-60. Epub 2005 Dec 29.

Department of Nephrology and Urology, Division of Nephrology, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.

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http://dx.doi.org/10.1007/s00467-005-2092-5DOI Listing
March 2006

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

J Neurol 2005 Aug 8;252(8):901-3. Epub 2005 Mar 8.

Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy.

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http://dx.doi.org/10.1007/s00415-005-0768-1DOI Listing
August 2005

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.

Arch Neurol 2004 Feb;61(2):269-72

First Division of Neurology, Department of Neurological Sciences, Second University of Naples, School of Medicine, Poclinico Universitario Federico II, Italy.

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http://dx.doi.org/10.1001/archneur.61.2.269DOI Listing
February 2004

Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene.

Muscle Nerve 2003 Oct;28(4):508-11

Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy.

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http://doi.wiley.com/10.1002/mus.10429
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http://dx.doi.org/10.1002/mus.10429DOI Listing
October 2003