Alessandra Tessa

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Electronic address:

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April 2020

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

Authors:

Federica Ginanneschi Angelica D'Amore Melissa Barghigiani Alessandra Tessa Alessandro Rossi Filippo Maria Santorelli

Neurol Sci 2020 Mar 9;41(3):699-703. Epub 2019 Dec 9.

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

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March 2020

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.

J Neurol 2019 Nov 13;266(11):2657-2664. Epub 2019 Jul 13.

Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy.

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November 2019

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families.

Authors:

Giovanna De Michele Maria Lieto Daniele Galatolo Elena Salvatore Sirio Cocozza Melissa Barghigiani Alessandra Tessa Jacopo Baldacci Sabina Pappatà Alessandro Filla Giuseppe De Michele Filippo M Santorelli

Parkinsonism Relat Disord 2019 08 14;65:91-96. Epub 2019 May 14.

IRCCS Fondazione Stella Maris, Pisa, Italy.

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August 2019

Clinical and molecular studies in two new cases of ARSACS.

Authors:

Ivana Ricca Federica Morani Giacomo Maria Bacci Claudia Nesti Roberto Caputo Alessandra Tessa Filippo Maria Santorelli

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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March 2019

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

Authors:

Angelica D'Amore Alessandra Tessa Carlo Casali Maria Teresa Dotti Alessandro Filla Gabriella Silvestri Antonella Antenora Guja Astrea Melissa Barghigiani Roberta Battini Carla Battisti Irene Bruno Cristina Cereda Clemente Dato Giuseppe Di Iorio Vincenzo Donadio Monica Felicori Nicola Fini Chiara Fiorillo Salvatore Gallone Federica Gemignani Gian Luigi Gigli Claudio Graziano Renzo Guerrini Fiorella Gurrieri Ariana Kariminejad Maria Lieto Charles Marques LourenḈo Alessandro Malandrini Paola Mandich Christian Marcotulli Francesco Mari Luca Massacesi Maria A B Melone Andrea Mignarri Roberta Milone Olimpia Musumeci Elena Pegoraro Alessia Perna Antonio Petrucci Antonella Pini Francesca Pochiero Maria Roser Pons Ivana Ricca Salvatore Rossi Marco Seri Franco Stanzial Francesca Tinelli Antonio Toscano Mariarosaria Valente Antonio Federico Anna Rubegni Filippo Maria Santorelli

Front Neurol 2018 4;9:981. Epub 2018 Dec 4.

Molecular Medicine, Pisa, Italy.

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December 2018

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

Authors:

Francesco Mari Beatrice Berti Alessandro Romano Jacopo Baldacci Riccardo Rizzi M Grazia Alessandrì Alessandra Tessa Elena Procopio Anna Rubegni Charles Marques Lourenḉo Alessandro Simonati Renzo Guerrini Filippo Maria Santorelli

Neurogenetics 2018 05 8;19(2):123-130. Epub 2018 Feb 8.

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

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May 2018

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

Authors:

Giulia Iapadre Giovanni Morana Maria Stella Vari Francesca Pinto Paola Lanteri Alessandra Tessa Filippo Maria Santorelli Pasquale Striano Alberto Verrotti

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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May 2018

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

Authors:

Daniele Galatolo Alessandra Tessa Alessandro Filla Filippo M Santorelli

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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January 2018

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

Hum Mutat 2018 01 11;39(1):140-151. Epub 2017 Nov 11.

INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme. Bordeaux University, Bordeaux, France.

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January 2018

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

Authors:

Ilaria Taglia Patrizia Formichi Carla Battisti Giulia Peppoloni Melissa Barghigiani Alessandra Tessa Antonio Federico

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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March 2018

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

Authors:

Anna Rubegni Tiziana Pisano Giacomo Bacci Alessandra Tessa Roberta Battini Elena Procopio Sabrina Giglio Rosa Pasquariello Filippo Maria Santorelli Renzo Guerrini Claudia Nesti

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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July 2017

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

Authors:

Anna Rubegni Carla Battisti Alessandra Tessa Alfonso Cerase Stefano Doccini Alessandro Malandrini Filippo M Santorelli Antonio Federico

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

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

Authors:

Alexandros A Polymeris Alessandra Tessa Katherine Anagnostopoulou Anna Rubegni Daniele Galatolo Argirios Dinopoulos Artemis D Gika Sotiris Youroukos Eleni Skouteli Filippo M Santorelli Roser Pons

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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August 2016

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

Authors:

Luca Leonardi Christian Marcotulli Eugenia Storti Alessandra Tessa Mariano Serrao Antonino Longobardi Silvia Romano Giovanni Ristori Filippo M Santorelli Francesco Pierelli Carlo Casali

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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March 2018

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

Authors:

Andrea Mignarri Anna Rubegni Alessandra Tessa Stefano Stefanucci Alessandro Malandrini Elena Cardaioli Maria Chiara Meschini Maria Laura Stromillo Stefano Doccini Antonio Federico Filippo Maria Santorelli Maria Teresa Dotti

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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March 2016

Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family.

Authors:

Luca Leonardi Lucia Ziccardi Christian Marcotulli Anna Rubegni Antonino Longobardi Mariano Serrao Eugenia Storti Francesco Pierelli Alessandra Tessa Vincenzo Parisi Filippo M Santorelli Casali Carlo

J Neurol 2016 Apr 25;263(4):781-3. Epub 2016 Feb 25.

Department of SBMC, Sapienza University Rome, Rome, Italy.

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April 2016

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

Authors:

Mara Doimo Raffaele Lopreiato Valentina Basso Raissa Bortolotto Alessandra Tessa Filippo M Santorelli Eva Trevisson Leonardo Salviati

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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November 2015

Treatment of SPG5 with cholesterol-lowering drugs.

Authors:

Andrea Mignarri Alessandro Malandrini Marina Del Puppo Alessandro Magni Lucia Monti Federica Ginanneschi Alessandra Tessa Filippo Maria Santorelli Antonio Federico Maria Teresa Dotti

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

Hereditary spastic paraplegia type 11 with a very late onset.

Authors:

Anna Rubegni Eugenia Storti Alessandra Tessa Antonio Federico Filippo M Santorelli

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

Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.

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August 2015

Acute optic neuropathy associated with a novel MFN2 mutation.

Authors:

Luca Leonardi Christian Marcotulli Eugenia Storti Alessandra Tessa Mariano Serrao Vincenzo Parisi F M Santorelli Francesco Pierelli Carlo Casali

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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July 2015

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

Authors:

Luca Leonardi Christian Marcotulli Filippo M Santorelli Alessandra Tessa Carlo Casali

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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June 2015

Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis.

Authors:

Alessandra Tessa Chiara Fiorillo Domenico De Grandis Guja Astrea Silvia Perazza Alessandro Filla Filippo M Santorelli

Can J Neurol Sci 2014 Sep;41(5):666-8

1IRCCS Stella Maris,Pisa.

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September 2014

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

Authors:

Lucia Ruggiero Chiara Fiorillo Alessandra Tessa Fiore Manganelli Rosa Iodice Raffaele Dubbioso Floriana Vitale Eugenia Storti Ernesto Soscia Filippo Santorelli Lucio Santoro

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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April 2015

Early-onset optic neuropathy as initial clinical presentation in SPG7.

Authors:

Christian Marcotulli Luca Leonardi Alessandra Tessa Anna Maria De Negris Riccardo Cornia Alberto Pierallini Shalom Haggiag Francesco Pierelli Filippo M Santorelli Carlo Casali

J Neurol 2014 Sep 18;261(9):1820-1. Epub 2014 Jul 18.

Department of SBMC, Sapienza University Rome, Rome, Italy.

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September 2014

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

Authors:

Luca Leonardi Christian Marcotulli Karen N McFarland Alessandra Tessa Roberto DiFabio Filippo M Santorelli Francesco Pierelli Tetsuo Ashizawa Carlo Casali

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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September 2014

Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred.

Authors:

Loretta Racis Eugenia Storti Maura Pugliatti Virgilio Agnetti Alessandra Tessa Filippo M Santorelli

BMC Med Genet 2014 Apr 1;15:39. Epub 2014 Apr 1.

IRCCS Stella Maris, via dei Giacinti 2, 56028 Pisa, Italy.

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April 2014

Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4.

Authors:

Federica Ginanneschi Maria A Carluccio Andrea Mignarri Alessandra Tessa Filippo M Santorelli Alessandro Rossi Antonio Federico Maria T Dotti

Neurol Sci 2014 Aug 20;35(8):1287-91. Epub 2014 Mar 20.

Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.

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August 2014

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

Authors:

Roberto Di Fabio Christian Marcotulli Alessandra Tessa Luca Leonardi Eugenia Storti Francesco Pierelli Filippo M Santorelli Carlo Casali

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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April 2014

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

Authors:

Andrea Mignarri Alessandro Malandrini Marina Del Puppo Alessandro Magni Lucia Monti Federica Ginanneschi Alessandra Tessa Filippo Maria Santorelli Antonio Federico Maria Teresa Dotti

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

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

Authors:

Andrea Mignarri Alessandra Tessa Maria Alessandra Carluccio Alessandra Rufa Eugenia Storti Giovanni Bonelli Christian Marcotulli Filippo Maria Santorelli Luca Leonardi Carlo Casali Antonio Federico Maria Teresa Dotti

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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January 2014

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.

Authors:

Loretta Racis Alessandra Tessa Maura Pugliatti Eugenia Storti Virgilio Agnetti Filippo M Santorelli

Eur J Paediatr Neurol 2014 Mar 9;18(2):235-9. Epub 2013 Oct 9.

IRCCS Stella Maris, Pisa, Italy. Electronic address:

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March 2014

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

Authors:

Loretta Racis Alessandra Tessa Roberto Di Fabio Eugenia Storti Virgilio Agnetti Carlo Casali Filippo M Santorelli Maura Pugliatti

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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January 2014

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Authors:

Alessandro Romano Alessandra Tessa Amilcare Barca Fabiana Fattori Maria Fulvia de Leva Alessandra Terracciano Carlo Storelli Filippo Maria Santorelli Tiziano Verri

Hum Mutat 2013 Mar;34(3):525-37

Department of Biological and Environmental Sciences and Technologies, University of Salento, Lecce, Italy.

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March 2013

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

Authors:

Massimiliano Filosto Antonella Alberici Alessandra Tessa Alessandro Padovani Filippo M Santorelli

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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September 2013

De novo FTL mutation: a clinical, neuroimaging, and molecular study.

Authors:

Eugenia Storti Francesca Cortese Roberto Di Fabio Chiara Fiorillo Alberto Pierallini Alessandra Tessa Annamaria Valleriani Francesco Pierelli Filippo M Santorelli Carlo Casali

Mov Disord 2013 Feb 12;28(2):252-3. Epub 2012 Dec 12.

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February 2013

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

Authors:

Francesco Saccà Angela Marsili Giorgia Puorro Antonella Antenora Chiara Pane Alessandra Tessa Pasquale Scoppettuolo Claudia Nesti Vincenzo Brescia Morra Giuseppe De Michele Filippo M Santorelli Alessandro Filla

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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April 2013

Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.

Authors:

Roberto Di Fabio Giovanna Comanducci Francesca Piccolo Filippo Maria Santorelli Teresa De Berardinis Alessandra Tessa Umberto Sabatini Francesco Pierelli Carlo Casali

Cerebellum 2013 Feb;12(1):140-3

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February 2013

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

J Inherit Metab Dis 2013 Jan 8;36(1):43-53. Epub 2012 May 8.

IRCCS Fondazione Stella Maris, Pisa, Italy.

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January 2013

Involvement of the mitochondrial compartment in human NCL fibroblasts.

Authors:

Francesco Pezzini Floriana Gismondi Alessandra Tessa Paola Tonin Rosalba Carrozzo Sara E Mole Filippo M Santorelli Alessandro Simonati

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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December 2011

New findings in the ataxia of Charlevoix-Saguenay.

Authors:

José Gazulla Isabel Benavente Ana Carmen Vela Miguel Angel Marín Luis Emilio Pablo Alessandra Tessa María Rosario Barrena Filippo Maria Santorelli Claudia Nesti Pedro Modrego María Tintoré José Berciano

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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May 2012

Infantile childhood onset of spinocerebellar ataxia type 2.

Authors:

Roberto Di Fabio Filippo Santorelli Enrico Bertini Martina Balestri Laura Cursi Alessandra Tessa Francesco Pierelli Carlo Casali

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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June 2012

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

Authors:

Maria Laura Stromillo Alessandro Malandrini Maria Teresa Dotti Marco Battaglini Federico Borgogni Alessandra Tessa Eugenia Storti Paola S Denora Filippo Maria Santorelli Carmen Gaudiano Carla Battisti Antonio Federico Nicola De Stefano

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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December 2011

A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.

Authors:

Francesco Saccà Giorgia Puorro Antonella Antenora Angela Marsili Alessandra Denaro Raffaele Piro Pierpaolo Sorrentino Chiara Pane Alessandra Tessa Vincenzo Brescia Morra Sergio Cocozza Giuseppe De Michele Filippo M Santorelli Alessandro Filla

PLoS One 2011 Mar 11;6(3):e17627. Epub 2011 Mar 11.

Department of Neurological Sciences, University Federico II, Naples, Italy.

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March 2011

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

Authors:

Lucio Santoro Fiore Manganelli Maria Roberta Fortunato Maria Virginia Soldovieri Paolo Ambrosino Rosa Iodice Chiara Pisciotta Alessandra Tessa Filippo Santorelli Maurizio Taglialatela

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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May 2011

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

Authors:

Arianna Guidubaldi Carla Piano Filippo M Santorelli Gabriella Silvestri Martina Petracca Alessandra Tessa Anna Rita Bentivoglio

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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February 2011

Molecular investigation of pediatric portuguese patients with sensorineural hearing loss.

Authors:

Célia Nogueira Miguel Coutinho Cristina Pereira Alessandra Tessa Filippo M Santorelli Laura Vilarinho

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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August 2012

Familial frontotemporal dementia with parkinsonism associated with the progranulin c.C1021T (p.Q341X) mutation.

Authors:

Roberto Di Fabio Alessandra Tessa Erik J Simons Filippo M Santorelli Carlo Casali Mariano Serrao Francesco Pierelli Vincenzo Bonifati

Parkinsonism Relat Disord 2010 Aug 8;16(7):484-5. Epub 2010 Jun 8.

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August 2010

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

Authors:

Roberto Massa Alessandra Tessa Maria Margollicci Vanna Micheli Andrea Romigi Giulia Tozzi Chiara Terracciano Fiorella Piemonte Giorgio Bernardi Filippo M Santorelli

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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December 2009

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

Authors:

Michela Catteruccia Tommaso Sanna Filippo Maria Santorelli Alessandra Tessa Raffaella Di Giacopo Donato Sauchelli Alessandro Verbo Mauro Lo Monaco Serenella Servidei

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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November 2009

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

Authors:

Maria Fulvia de Leva Alessandro Filla Chiara Criscuolo Alessandra Tessa Sabina Pappatà Mario Quarantelli Leonilda Bilo Silvio Peluso Antonella Antenora Dario Longo Filippo M Santorelli Giuseppe De Michele

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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March 2010

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.

Authors:

Alessandro Simonati Alessandra Tessa Bernardo Dalla Bernardina Roberta Biancheri Edvige Veneselli Giulia Tozzi Maria Bonsignore Salvatore Grosso Fiorella Piemonte Filippo M Santorelli

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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April 2009

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

Hum Mutat 2009 May;30(5):741-8

Molecular Medicine and Metabolism, Istituto di Ricovero e Cura a Carattere Scientifico Children's Hospital Bambino Gesù, Rome, Italy.

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May 2009

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

Authors:

Roberta Biancheri Marianna Ciccolella Andrea Rossi Alessandra Tessa Denise Cassandrini Carlo Minetti Filippo M Santorelli

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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January 2009

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

Hum Mutat 2009 Mar;30(3):E530-40

Molecular Medicine, Neurology, Radiology, and Pathology, IRCCS-Bambino Gesù Hospital, Rome, Italy.

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March 2009

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.

Biochem Biophys Res Commun 2009 Feb 7;379(4):892-7. Epub 2009 Jan 7.

Molecular Medicine, Neurology, and Pathology, IRCCS-Bambino Gesù Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy.

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February 2009

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.

Authors:

Paola S Denora David Schlesinger Carlo Casali Fernando Kok Alessandra Tessa Amir Boukhris Hamid Azzedine Maria Teresa Dotti Claudio Bruno Jeremy Truchetto Roberta Biancheri Estelle Fedirko Maja Di Rocco Clarissa Bueno Alessandro Malandrini Roberta Battini Elisabeth Sickl Maria Fulvia de Leva Odile Boespflug-Tanguy Gabriella Silvestri Alessandro Simonati Edith Said Andreas Ferbert Chiara Criscuolo Karl Heinimann Anna Modoni Peter Weber Silvia Palmeri Martina Plasilova Flavia Pauri Denise Cassandrini Carla Battisti Antonella Pini Michela Tosetti Erwin Hauser Marcella Masciullo Roberto Di Fabio Francesca Piccolo Elodie Denis Giovanni Cioni Roberto Massa Elvio Della Giustina Olga Calabrese Marina A B Melone Giuseppe De Michele Antonio Federico Enrico Bertini Alexandra Durr Knut Brockmann Marjo S van der Knaap Mayana Zatz Alessandro Filla Alexis Brice Giovanni Stevanin Filippo M Santorelli

Hum Mutat 2009 Mar;30(3):E500-19

INSERM, UMR_S679, Paris, France .

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March 2009

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.

Authors:

Alessandra Tessa Gabriella Silvestri Maria Fulvia de Leva Anna Modoni Paola S Denora Marcella Masciullo M Teresa Dotti Carlo Casali Mariarosa A B Melone Antonio Federico Alessandro Filla Filippo M Santorelli

J Neurol 2008 Jul 2;255(7):1090-2. Epub 2008 Jun 2.

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July 2008

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

Authors:

Adele D'Amico Stefania Petrini Francesco Parisi Alessandra Tessa Paola Francalanci Giorgia Grutter Filippo M Santorelli Enrico Bertini

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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February 2008

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

Authors:

Roberta Biancheri Antonio Falace Alessandra Tessa Marina Pedemonte Sara Scapolan Denise Cassandrini Chiara Aiello Andrea Rossi Paolo Broda Federico Zara Filippo Maria Santorelli Carlo Minetti Claudio Bruno

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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November 2007

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

Authors:

Célia Nogueira João Nunes Teresinha Evangelista Fabiana Fattori Alessandra Tessa Cristina Pereira Filippo M Santorelli Laura Vilarinho

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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December 2007

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis.

Authors:

Stefania Petrini Adele D'Amico Patrizio Sale Laura Lucarini Patrizia Sabatelli Alessandra Tessa Betti Giusti Margherita Verardo Rosalba Carrozzo Elisabetta Mattioli Marina Scarpelli Mon-Li Chu Guglielmina Pepe Matteo Antonio Russo Enrico Bertini

Neuromuscul Disord 2007 Aug 27;17(8):587-96. Epub 2007 Jun 27.

Unit of Molecular Medicine, Department of Laboratory Medicine, Bambino Gesù Paediatric Hospital IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy.

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August 2007

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

Authors:

Michelangelo Mancuso Giulia Ricci Anna Choub Massimiliano Filosto Salvatore DiMauro Guido Davidzon Alessandra Tessa Filippo M Santorelli Luigi Murri Gabriele Siciliano

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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February 2008

Infantile mitochondrial disorders.

Authors:

Rosalba Carrozzo Fiorella Piemonte Alessandra Tessa Simona Lucioli Teresa Rizza Maria Chiara Meschini Fabiana Fattori Filippo M Santorelli

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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June 2007

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

Nat Genet 2007 Mar 18;39(3):366-72. Epub 2007 Feb 18.

INSERM, UMR679, Federal Institute for Neuroscience Research, Pitié-Salpêtrière Hospital, Paris, France.

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March 2007

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

Authors:

Vittoria Petruzzella Alessandra Tessa Alessandra Torraco Fabiana Fattori Maria Teresa Dotti Claudio Bruno Elena Cardaioli Sergio Papa Antonio Federico Filippo M Santorelli

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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March 2007

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

Authors:

Cristina Pereira Celia Nogueira Clara Barbot Alessandra Tessa Carla Soares Fabiana Fattori António Guimarães Filippo M Santorelli Laura Vilarinho

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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March 2007

Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism.

Authors:

Denise Cassandrini Salvatore Savasta Mauro Bozzola Alessandra Tessa Marina Pedemonte Stefania Assereto Silvia Stringara Carlo Minetti Filippo M Santorelli Claudio Bruno

J Child Neurol 2006 Nov;21(11):983-5

Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Italy.

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November 2006

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

Authors:

Maria Bonsignore Alessandra Tessa Gabriella Di Rosa Fiorella Piemonte Carlo Dionisi-Vici Alessandro Simonati Filippo Calamoneri Gaetano Tortorella Filippo M Santorelli

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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May 2006

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

Neurogenetics 2006 Jul 13;7(3):149-56. Epub 2006 May 13.

INSERM U679, Salpetriere Hospital, 47 Boulevard de l'Hôpital, 75013 Paris, France.

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July 2006

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy.

Authors:

Denise Cassandrini Maria Grazia Calevo Alessandra Tessa Giovanni Manfredi Fabiana Fattori Maria Chiara Meschini Rosalba Carrozzo Emmanuel Tonoli Marina Pedemonte Carlo Minetti Federico Zara Filippo M Santorelli Claudio Bruno

Biochem Biophys Res Commun 2006 Apr 8;342(2):387-93. Epub 2006 Feb 8.

Unit of Muscular and Neurodegenerative Diseases, University of Genoa, Genoa, Italy.

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April 2006

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

Authors:

Francesco Emma Carla Pizzini Alessandra Tessa Silvia Di Giandomenico Andrea Onetti-Muda Filippo M Santorelli Enrico Bertini Gianfranco Rizzoni

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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March 2006

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

Authors:

Simona Lucioli Klaus Hoffmeier Rosalba Carrozzo Alessandra Tessa Bernd Ludwig Filippo M Santorelli

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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March 2006

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency.

Authors:

Stefania Petrini Alessandra Tessa William B Stallcup Patrizia Sabatelli Mario Pescatori Betti Giusti Rosalba Carrozzo Margherita Verardo Natascha Bergamin Marta Columbaro Camilla Bernardini Luciano Merlini Guglielmina Pepe Paolo Bonaldo Enrico Bertini

Mol Cell Neurosci 2005 Nov;30(3):408-17

Unit of Molecular Medicine, Bambino Gesù Hospital IRCCS, P.zza S. Onofrio 4, 00165 Rome, Italy.

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November 2005

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

Authors:

Valentina Scarano Pietro Mancini Chiara Criscuolo Giuseppe De Michele Carlo Rinaldi Tecla Tucci Alessandra Tessa Filippo M Santorelli Anna Perretti Lucio Santoro Alessandro Filla

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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August 2005

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

Authors:

Mariarosa A B Melone Alessandra Tessa Stefania Petrini Giacomo Lus Simone Sampaolo Giuseppe di Fede Filippo M Santorelli Roberto Cotrufo

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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February 2004