M Barghigiani

Affiliations

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

Publications (19)

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

International journal of molecular sciences

Avec: Daniele Galatolo , Giovanna De Michele , Gabriella Silvestri , Vincenzo Leuzzi , Carlo Casali , Olimpia Musumeci , Antonella Antenora , Guja Astrea , Melissa Barghigiani , Roberta Battini , Carla Battisti , Caterina Caputi , Ettore Cioffi , Giuseppe De Michele , Maria Teresa Dotti , Tommasina Fico , Chiara Fiorillo , Serena Galosi , Maria Lieto , Alessandro Malandrini , Marina A B Melone , Andrea Mignarri , Gemma Natale , Elena Pegoraro , Antonio Petrucci , Ivana Ricca , Vittorio Riso , Salvatore Rossi , Anna Rubegni , Arianna Scarlatti , Francesca Tinelli , Rosanna Trovato , Gioacchino Tedeschi , Alessandra Tessa , Alessandro Filla , Filippo Maria Santorelli

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.

Neurology. Genetics

Avec: Salvatore Rossi , Anna Rubegni , Vittorio Riso , Melissa Barghigiani , Maria Teresa Bassi , Roberta Battini , Enrico Bertini , Cristina Cereda , Ettore Cioffi , Chiara Criscuolo , Beatrice Dal Fabbro , Clemente Dato , Maria Grazia D'Angelo , Antonio Di Muzio , Luca Diamanti , Maria Teresa Dotti , Alessandro Filla , Valeria Gioiosa , Rocco Liguori , Andrea Martinuzzi , Roberto Massa , Andrea Mignarri , Rossana Moroni , Olimpia Musumeci , Francesco Nicita , Ilaria Orologio , Laura Orsi , Elena Pegoraro , Antonio Petrucci , Massimo Plumari , Ivana Ricca , Giovanni Rizzo , Silvia Romano , Roberto Rumore , Simone Sampaolo , Marina Scarlato , Marco Seri , Cristina Stefan , Giulia Straccia , Alessandra Tessa , Lorena Travaglini , Rosanna Trovato , Lucia Ulgheri , Giovanni Vazza , Antonio Orlacchio , Gabriella Silvestri , Filippo Maria Santorelli , Mariarosa Anna Beatrice Melone , Carlo Casali

Pseudodominance in RFC1-Spectrum Disorder.

Cerebellum (London, England)

Avec: Grazia Maria Igea Falcone , Alessandra Tessa , Ignazio Giuseppe Arena , Melissa Barghigiani , Alba Migliorato , Alex Incensi , Carmelo Rodolico , Vincenzo Donadio , Filippo Maria Santorelli , Olimpia Musumeci

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

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

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

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

European journal of neurology

Avec: C Mancini , E Giorgio , A Rubegni , L Pradotto , S Bagnoli , E Rubino , P Prontera , S Cavalieri , E Di Gregorio , M Ferrero , E Pozzi , E Riberi , P Ferrero , P Nigro , A Mauro , M Zibetti , A Tessa , M Barghigiani , A Antenora , F Sirchia , S Piacentini , G Silvestri , G De Michele , A Filla , L Orsi , F M Santorelli , A Brusco

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

Parkinsonism & related disorders

Avec: 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

Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.

Neurogenetics

Avec: Daniele Galatolo , Rosanna Trovato , Arianna Scarlatti , Salvatore Rossi , Gemma Natale , Giovanna De Michele , Melissa Barghigiani , Ettore Cioffi , Alessandro Filla , Giusi Bilancieri , Carlo Casali , Filippo M Santorelli , Gabriella Silvestri , Alessandra Tessa

Expanding the clinical and genetic heterogeneity of SPAX5.

Annals of clinical and translational neurology

Avec: Claudia Dosi , Daniele Galatolo , Anna Rubegni , Stefano Doccini , Rosa Pasquariello , Claudia Nesti , Federico Sicca , Melissa Barghigiani , Roberta Battini , Alessandra Tessa , Filippo M Santorelli

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.

European journal of neurology

Avec: M Lieto , V Riso , D Galatolo , G De Michele , S Rossi , M Barghigiani , S Cocozza , G Pontillo , R Trovato , F Saccà , E Salvatore , A Tessa , A Filla , F M Santorelli , G De Michele , G Silvestri

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

Journal of neurology

Avec: Francesco Nicita , Fabrizia Stregapede , Alessandra Tessa , Maria Teresa Bassi , Aleksandra Jezela-Stanek , Guido Primiano , Antonio Pizzuti , Melissa Barghigiani , Marta Nardella , Ginevra Zanni , Serenella Servidei , Guja Astrea , Elena Panzeri , Cristina Maghini , Luciana Losito , Rafal Ploski , Piotr Gasperowicz , Filippo Maria Santorelli , Enrico Bertini , Lorena Travaglini

Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.

Genes

Avec: Alessandro Vaisfeld , Giorgia Bruno , Martina Petracca , Anna Rita Bentivoglio , Serenella Servidei , Maria Gabriella Vita , Francesco Bove , Giulia Straccia , Clemente Dato , Giuseppe Di Iorio , Simone Sampaolo , Silvio Peluso , Anna De Rosa , Giuseppe De Michele , Melissa Barghigiani , Daniele Galatolo , Alessandra Tessa , Filippo Santorelli , Pietro Chiurazzi , Mariarosa Anna Beatrice Melone

A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.

European journal of neurology

Avec: Vittorio Riso , Daniele Galatolo , Melissa Barghigiani , Serena Galosi , Alessandra Tessa , Ivana Ricca , Salvatore Rossi , Caterina Caputi , Ettore Cioffi , Vincenzo Leuzzi , Carlo Casali , Filippo M Santorelli , Gabriella Silvestri

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.

Journal of neurology

Avec: Giovanna De Michele , Daniele Galatolo , Serena Galosi , Andrea Mignarri , Gabriella Silvestri , Carlo Casali , Vincenzo Leuzzi , Ivana Ricca , Melissa Barghigiani , Alessandra Tessa , Ettore Cioffi , Caterina Caputi , Vittorio Riso , Maria Teresa Dotti , Francesco Saccà , Giuseppe De Michele , Sirio Cocozza , Alessandro Filla , Filippo M Santorelli

Spinocerebellar ataxia type 48: last but not least.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Avec: Giovanna De Michele , Daniele Galatolo , Melissa Barghigiani , Diletta Dello Iacovo , Rosanna Trovato , Alessandra Tessa , Elena Salvatore , Alessandro Filla , Giuseppe De Michele , Filippo M Santorelli

Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience.

Brain sciences

Avec: Vittorio Riso , Salvatore Rossi , Tommaso F Nicoletti , Alessandra Tessa , Lorena Travaglini , Ginevra Zanni , Chiara Aiello , Alessia Perna , Melissa Barghigiani , Maria Grazia Pomponi , Filippo M Santorelli , Gabriella Silvestri

Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations.

Annals of clinical and translational neurology

Avec: Lucia Ruggiero , Aniello Iovino , Raffaele Dubbioso , Sirio Cocozza , Rosanna Trovato , Francesco Aruta , Giuseppe Pontillo , Melissa Barghigiani , Arturo Brunetti , Filippo Maria Santorelli , Fiore Manganelli , Rosa Iodice

Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH.

Journal of the peripheral nervous system : JPNS

Avec: Francesco Aruta , Daniele Severi , Aniello Iovino , Emanuele Spina , Melissa Barghigiani , Lucia Ruggiero , Rosa Iodice , Filippo Maria Santorelli , Fiore Manganelli , Stefano Tozza

Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis.

Journal of neurology

Avec: Melissa Barghigiani , Giovanna De Michele , Alessandra Tessa , Tommasina Fico , Gemma Natale , Francesco Saccà , Chiara Pane , Nunzia Cuomo , Anna De Rosa , Sabina Pappatà , Giuseppe De Michele , Filippo M Santorelli , Alessandro Filla

Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.

Journal of neurology

Avec: Sara Satolli , Salvatore Rossi , Elisa Vegezzi , David Pellerin , Maria Laura Manca , Melissa Barghigiani , Carla Battisti , Giusi Bilancieri , Giorgia Bruno , Elena Capacci , Carlo Casali , Roberto Ceravolo , Sirio Cocozza , Stefano Cotti Piccinelli , Chiara Criscuolo , Matt C Danzi , Rosa De Micco , Giuseppe De Michele , Marie-Josée Dicaire , Grazia Maria Igea Falcone , Roberto Fancellu , Yasmine Ferchichi , Camilla Ferrari , Alessandro Filla , Nicola Fini , Alessandra Govoni , Filomena Lo Vecchio , Alessandro Malandrini , Andrea Mignarri , Olimpia Musumeci , Claudia Nesti , Sabina Pappatà , Maria Teresa Pellecchia , Alessia Perna , Antonio Petrucci , Maria Grazia Pomponi , Roberta Ravenni , Ivana Ricca , Alessandra Rufa , Elisabetta Tabolacci , Alessandra Tessa , Alessandro Tessitore , Stephan Zuchner , Gabriella Silvestri , Andrea Cortese , Bernard Brais , Filippo M Santorelli

Réseau de co-auteurs

Melissa Barghigiani 17 collaborations

Alessandra Tessa 15 collaborations

Filippo M Santorelli 9 collaborations

Daniele Galatolo 8 collaborations

Alessandro Filla 8 collaborations

Gabriella Silvestri 7 collaborations

Giuseppe De Michele 7 collaborations

Filippo Maria Santorelli 7 collaborations

Giovanna De Michele 6 collaborations

Carlo Casali 6 collaborations

Salvatore Rossi 6 collaborations

Ettore Cioffi 5 collaborations

Ivana Ricca 5 collaborations

Vittorio Riso 5 collaborations

Rosanna Trovato 5 collaborations

Olimpia Musumeci 4 collaborations

Andrea Mignarri 4 collaborations

Sirio Cocozza 4 collaborations

Vincenzo Leuzzi 3 collaborations

Roberta Battini 3 collaborations

Caterina Caputi 3 collaborations

Maria Teresa Dotti 3 collaborations

Serena Galosi 3 collaborations

Gemma Natale 3 collaborations

Antonio Petrucci 3 collaborations

Anna Rubegni 3 collaborations

Lorena Travaglini 3 collaborations

G De Michele 3 collaborations

Sabina Pappatà 3 collaborations

Guja Astrea 2 collaborations

Carla Battisti 2 collaborations

Tommasina Fico 2 collaborations

Maria Lieto 2 collaborations

Alessandro Malandrini 2 collaborations

Elena Pegoraro 2 collaborations

Arianna Scarlatti 2 collaborations

Maria Teresa Bassi 2 collaborations

Enrico Bertini 2 collaborations

Chiara Criscuolo 2 collaborations

Clemente Dato 2 collaborations

Francesco Nicita 2 collaborations

Simone Sampaolo 2 collaborations

Giulia Straccia 2 collaborations

Mariarosa Anna Beatrice Melone 2 collaborations

Grazia Maria Igea Falcone 2 collaborations

A Tessa 2 collaborations

G Silvestri 2 collaborations

A Filla 2 collaborations

F M Santorelli 2 collaborations

Elena Salvatore 2 collaborations

Giusi Bilancieri 2 collaborations

Claudia Nesti 2 collaborations

Ginevra Zanni 2 collaborations

Serenella Servidei 2 collaborations

Giorgia Bruno 2 collaborations

Anna De Rosa 2 collaborations

Francesco Saccà 2 collaborations

Alessia Perna 2 collaborations

Maria Grazia Pomponi 2 collaborations

Lucia Ruggiero 2 collaborations

Aniello Iovino 2 collaborations

Francesco Aruta 2 collaborations

Fiore Manganelli 2 collaborations

Rosa Iodice 2 collaborations

Antonella Antenora 1 collaboration

Chiara Fiorillo 1 collaboration

Marina A B Melone 1 collaboration

Francesca Tinelli 1 collaboration

Gioacchino Tedeschi 1 collaboration

Cristina Cereda 1 collaboration

Beatrice Dal Fabbro 1 collaboration

Maria Grazia D'Angelo 1 collaboration

Antonio Di Muzio 1 collaboration

Luca Diamanti 1 collaboration

Valeria Gioiosa 1 collaboration

Rocco Liguori 1 collaboration

Andrea Martinuzzi 1 collaboration

Roberto Massa 1 collaboration

Rossana Moroni 1 collaboration

Ilaria Orologio 1 collaboration

Laura Orsi 1 collaboration

Massimo Plumari 1 collaboration

Giovanni Rizzo 1 collaboration

Silvia Romano 1 collaboration

Roberto Rumore 1 collaboration

Marina Scarlato 1 collaboration

Marco Seri 1 collaboration

Cristina Stefan 1 collaboration

Lucia Ulgheri 1 collaboration

Giovanni Vazza 1 collaboration

Antonio Orlacchio 1 collaboration

Ignazio Giuseppe Arena 1 collaboration

Alba Migliorato 1 collaboration

Alex Incensi 1 collaboration

Carmelo Rodolico 1 collaboration

Vincenzo Donadio 1 collaboration

Federica Ginanneschi 1 collaboration

Angelica D'Amore 1 collaboration

Alessandro Rossi 1 collaboration

C Mancini 1 collaboration

E Giorgio 1 collaboration

A Rubegni 1 collaboration

L Pradotto 1 collaboration

S Bagnoli 1 collaboration

E Rubino 1 collaboration

P Prontera 1 collaboration

S Cavalieri 1 collaboration

E Di Gregorio 1 collaboration

M Ferrero 1 collaboration

E Pozzi 1 collaboration

E Riberi 1 collaboration

P Ferrero 1 collaboration

P Nigro 1 collaboration

A Mauro 1 collaboration

M Zibetti 1 collaboration

A Antenora 1 collaboration

F Sirchia 1 collaboration

S Piacentini 1 collaboration

L Orsi 1 collaboration

A Brusco 1 collaboration

Jacopo Baldacci 1 collaboration

Claudia Dosi 1 collaboration

Stefano Doccini 1 collaboration

Rosa Pasquariello 1 collaboration

Federico Sicca 1 collaboration

M Lieto 1 collaboration

V Riso 1 collaboration

D Galatolo 1 collaboration

S Rossi 1 collaboration

S Cocozza 1 collaboration

G Pontillo 1 collaboration

R Trovato 1 collaboration

F Saccà 1 collaboration

E Salvatore 1 collaboration

Fabrizia Stregapede 1 collaboration

Aleksandra Jezela-Stanek 1 collaboration

Guido Primiano 1 collaboration

Antonio Pizzuti 1 collaboration

Marta Nardella 1 collaboration

Elena Panzeri 1 collaboration

Cristina Maghini 1 collaboration

Luciana Losito 1 collaboration

Rafal Ploski 1 collaboration

Piotr Gasperowicz 1 collaboration

Alessandro Vaisfeld 1 collaboration

Martina Petracca 1 collaboration

Anna Rita Bentivoglio 1 collaboration

Maria Gabriella Vita 1 collaboration

Francesco Bove 1 collaboration

Giuseppe Di Iorio 1 collaboration

Silvio Peluso 1 collaboration

Filippo Santorelli 1 collaboration

Pietro Chiurazzi 1 collaboration

Diletta Dello Iacovo 1 collaboration

Tommaso F Nicoletti 1 collaboration

Chiara Aiello 1 collaboration

Raffaele Dubbioso 1 collaboration

Giuseppe Pontillo 1 collaboration

Arturo Brunetti 1 collaboration

Daniele Severi 1 collaboration

Emanuele Spina 1 collaboration

Stefano Tozza 1 collaboration

Chiara Pane 1 collaboration

Nunzia Cuomo 1 collaboration

Sara Satolli 1 collaboration

Elisa Vegezzi 1 collaboration

David Pellerin 1 collaboration

Maria Laura Manca 1 collaboration

Elena Capacci 1 collaboration

Roberto Ceravolo 1 collaboration

Stefano Cotti Piccinelli 1 collaboration

Matt C Danzi 1 collaboration

Rosa De Micco 1 collaboration

Marie-Josée Dicaire 1 collaboration

Roberto Fancellu 1 collaboration

Yasmine Ferchichi 1 collaboration

Camilla Ferrari 1 collaboration

Nicola Fini 1 collaboration

Alessandra Govoni 1 collaboration

Filomena Lo Vecchio 1 collaboration

Maria Teresa Pellecchia 1 collaboration

Roberta Ravenni 1 collaboration

Alessandra Rufa 1 collaboration

Elisabetta Tabolacci 1 collaboration

Alessandro Tessitore 1 collaboration

Stephan Zuchner 1 collaboration

Andrea Cortese 1 collaboration

Bernard Brais 1 collaboration