Works by Fabrizi, Gian Maria

Results: 56

Correction to: Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.

Published in:

2025

By:

Gentile, Luca;
Mazzeo, Anna;
Briani, Chiara;
Casagrande, Silvia;
De Luca, Marcella;
Fabrizi, Gian Maria;
Gagliardi, Christian;
Gemelli, Chiara;
Forcina, Francesca;
Grandis, Marina;
Guglielmino, Valeria;
Iabichella, Giacomo;
Leonardi, Luca;
Lozza, Alessandro;
Manganelli, Fiore;
Mussinelli, Roberta;
My, Filomena;
Occhipinti, Giuseppe;
Fenu, Silvia;
Russo, Massimo

Publication type:

Correction Notice

Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.

Published in:

Neurological Sciences, 2024, v. 45, n. 9, p. 4563, doi. 10.1007/s10072-024-07494-9

By:

Gentile, Luca;
Mazzeo, Anna;
Briani, Chiara;
Casagrande, Silvia;
De Luca, Marcella;
Fabrizi, Gian Maria;
Gagliardi, Christian;
Gemelli, Chiara;
Forcina, Francesca;
Grandis, Marina;
Guglielmino, Valeria;
Iabichella, Giacomo;
Leonardi, Luca;
Lozza, Alessandro;
Manganelli, Fiore;
Mussinelli, Roberta;
My, Filomena;
Occhipinti, Giuseppe;
Fenu, Silvia;
Russo, Massimo

Publication type:

Article

CIDP, CMT1B, or CMT1B plus CIDP?

Published in:

Neurological Sciences, 2021, v. 42, n. 3, p. 1127, doi. 10.1007/s10072-020-04789-5

By:

Cardellini, Davide;
Zanette, Giampietro;
Taioli, Federica;
Bertolasi, Laura;
Ferrari, Sergio;
Cavallaro, Tiziana;
Fabrizi, Gian Maria

Publication type:

Article

Dealing with immune-mediated neuropathies during COVID-19 outbreak: practical recommendations from the task force of the Italian Society of Neurology (SIN), the Italian Society of Clinical Neurophysiology (SINC) and the Italian Peripheral Nervous System Association (ASNP).

Published in:

2020

By:

Dubbioso, Raffaele;
Nobile-Orazio, Eduardo;
Manganelli, Fiore;
Santoro, Lucio;
Briani, Chiara;
Cocito, Dario;
Tedeschi, Gioacchino;
Di Lazzaro, Vincenzo;
Fabrizi, Gian Maria;
SIN, SINC and ASNP

Publication type:

journal article

Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.

Published in:

2020

By:

Gentile, Luca;
Russo, Massimo;
Fabrizi, Gian Maria;
Taioli, Federica;
Ferrarini, Moreno;
Testi, Silvia;
Alfonzo, Annalisa;
Aguennouz, M'Hammed;
Toscano, Antonio;
Vita, Giuseppe;
Mazzeo, Anna

Publication type:

journal article

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.

Published in:

Cells (2073-4409), 2020, v. 9, n. 4, p. 1028, doi. 10.3390/cells9041028

By:

Saveri, Paola;
De Luca, Maria;
Nisi, Veronica;
Pisciotta, Chiara;
Romano, Roberta;
Piscosquito, Giuseppe;
Reilly, Mary M.;
Polke, James M.;
Cavallaro, Tiziana;
Fabrizi, Gian Maria;
Fossa, Paola;
Cichero, Elena;
Lombardi, Raffaella;
Lauria, Giuseppe;
Magri, Stefania;
Taroni, Franco;
Pareyson, Davide;
Bucci, Cecilia

Publication type:

Article

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

Published in:

Nature Genetics, 2001, v. 28, n. 3, p. 223, doi. 10.1038/90058

By:

Spelbrink, Johannes N.;
Li, Fang-Yuan;
Tiranti, Valeria;
Nikali, Kaisu;
Yuan, Qiu-Ping;
Tariq, Muhammed;
Wanrooij, Sjoerd;
Garrido, Nuria;
Comi, Giacomo;
Morandi, Lucia;
Santoro, Lucio;
Toscano, Antonio;
Fabrizi, Gian-Maria;
Somer, Hannu;
Croxen, Rebecca;
Beeson, David;
Poulton, Joanna;
Suomalainen, Anu;
Jacobs, Howard T

Publication type:

Article

Nerve ultrasound in CANVAS‐spectrum disease: Reduced nerve size distinguishes genetically confirmed CANVAS from other axonal polyneuropathies.

Published in:

Journal of the Peripheral Nervous System, 2024, v. 29, n. 4, p. 464, doi. 10.1111/jns.12655

By:

Salvalaggio, Alessandro;
Cacciavillani, Mario;
Tierro, Benedetta;
Coraci, Daniele;
Currò, Riccardo;
Ferrarini, Moreno;
Pegoraro, Elena;
Bello, Luca;
Fabrizi, Gian Maria;
Filla, Alessandro;
Padua, Luca;
Manganelli, Fiore;
Cortese, Andrea;
Briani, Chiara

Publication type:

Article

Conduction slowing, conduction block and temporal dispersion in demyelinating, dysmyelinating and axonal neuropathies: Electrophysiology meets pathology.

Published in:

Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 135, doi. 10.1111/jns.12625

By:

Uncini, Antonino;
Cavallaro, Tiziana;
Fabrizi, Gian Maria;
Manganelli, Fiore;
Vallat, Jean‐Michel

Publication type:

Article

Featured Cover.

Published in:

Journal of the Peripheral Nervous System, 2021, v. 26, p. i, doi. 10.1111/jns.12475

By:

Cavallaro, Tiziana;
Tagliapietra, Matteo;
Fabrizi, Gian Maria;
Bai, Yunhong;
Shy, Michael E.;
Vallat, Jean‐Michel

Publication type:

Article

Hereditary neuropathies: A pathological perspective.

Published in:

Journal of the Peripheral Nervous System, 2021, v. 26, p. S42, doi. 10.1111/jns.12467

By:

Cavallaro, Tiziana;
Tagliapietra, Matteo;
Fabrizi, Gian Maria;
Bai, Yunhong;
Shy, Michael E.;
Vallat, Jean‐Michel

Publication type:

Article

Acute and chronic inflammatory neuropathies and COVID‐19 vaccines: Practical recommendations from the task force of the Italian Peripheral Nervous System Association (ASNP).

Published in:

Journal of the Peripheral Nervous System, 2021, v. 26, n. 2, p. 148, doi. 10.1111/jns.12435

By:

Doneddu, Pietro E.;
Spina, Emanuele;
Briani, Chiara;
Fabrizi, Gian Maria;
Manganelli, Fiore;
Nobile‐Orazio, Eduardo

Publication type:

Article

Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH.

Published in:

Journal of the Peripheral Nervous System, 2020, v. 25, n. 4, p. 423, doi. 10.1111/jns.12417

By:

Boso, Federica;
Zanette, Giampietro;
Baldinotti, Fulvia;
Bertelloni, Silvano;
Taioli, Federica;
Monaco, Salvatore;
Fabrizi, Gian Maria;
Cavallaro, Tiziana

Publication type:

Article

Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags.

Published in:

Journal of the Peripheral Nervous System, 2020, v. 25, n. 1, p. 19, doi. 10.1111/jns.12362

By:

Campagnolo, Marta;
Taioli, Federica;
Cacciavillani, Mario;
Ruiz, Marta;
Luigetti, Marco;
Salvalaggio, Alessandro;
Castellani, Francesca;
Testi, Silvia;
Ferrarini, Moreno;
Cavallaro, Tiziana;
Gasparotti, Roberto;
Fabrizi, Gian Maria;
Briani, Chiara

Publication type:

Article

Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.

Published in:

Journal of the Peripheral Nervous System, 2012, v. 17, n. 4, p. 407, doi. 10.1111/j.1529-8027.2012.00439.x

By:

Stancanelli, Claudia;
Taioli, Federica;
Testi, Silvia;
Fabrizi, Gian Maria;
Arena, Maria Grazia;
Granata, Francesca;
Russo, Massimo;
Gentile, Luca;
Vita, Giuseppe;
Mazzeo, Anna

Publication type:

Article

Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.

Published in:

Journal of the Peripheral Nervous System, 2012, v. 17, n. 4, p. 414, doi. 10.1111/j.1529-8027.2012.00441.x

By:

Taioli, Federica;
Bertolasi, Laura;
Ajena, Domenico;
Ferrarini, Moreno;
Cabrini, Ilaria;
Crestanello, Alberto;
Fabrizi, Gian Maria

Publication type:

Article

Autonomic nervous system involvement in a new CMT2B family.

Published in:

Journal of the Peripheral Nervous System, 2012, v. 17, n. 3, p. 361, doi. 10.1111/j.1529-8027.2012.00415.x

By:

Manganelli, Fiore;
Pisciotta, Chiara;
Provitera, Vincenzo;
Taioli, Federica;
Iodice, Rosa;
Topa, Antonietta;
Fabrizi, Gian Maria;
Nolano, Maria;
Santoro, Lucio

Publication type:

Article

Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients.

Published in:

Journal of the Peripheral Nervous System, 2011, v. 16, n. 2, p. 119, doi. 10.1111/j.1529-8027.2011.00331.x

By:

Cappellari, Manuel;
Cavallaro, Tiziana;
Ferrarini, Moreno;
Cabrini, Ilaria;
Taioli, Federica;
Ferrari, Sergio;
Merlini, Giampaolo;
Obici, Laura;
Briani, Chiara;
Fabrizi, Gian Maria

Publication type:

Article

Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.

Published in:

2011

By:

Taioli, Federica;
Cabrini, Ilaria;
Cavallaro, Tiziana;
Simonati, Alessandro;
Testi, Silvia;
Fabrizi, Gian Maria

Publication type:

Journal Article

Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.

Published in:

Journal of the Peripheral Nervous System, 2011, v. 16, n. 1, p. 59, doi. 10.1111/j.1529-8027.2011.00319.x

By:

Taioli, Federica;
Cabrini, Ilaria;
Cavallaro, Tiziana;
Simonati, Alessandro;
Testi, Silvia;
Fabrizi, Gian Maria

Publication type:

Article

Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review.

Published in:

Hormone Research in Paediatrics, 2018, v. 89, n. 3, p. 141, doi. 10.1159/000485507

By:

Baldinotti, Fulvia;
Cavallaro, Tiziana;
Dati, Eleonora;
Baroncelli, Giampiero I.;
Bertini, Veronica;
Valetto, Angelo;
Massart, Francesco;
Fabrizi, Gian Maria;
Zanette, Giampietro;
Peroni, Diego;
Bertelloni, Silvano

Publication type:

Article

Peripheral nerve enlargement on nerve ultrasound parallels neuropathological changes in adult‐onset Krabbe disease.

Published in:

Muscle & Nerve, 2021, v. 63, n. 4, p. E33, doi. 10.1002/mus.27175

By:

Tagliapietra, Matteo;
Crescenzo, Francesco;
Castellotti, Barbara;
Gellera, Cinzia;
Polo, Diana;
Cavallaro, Tiziana;
Zanette, Giampietro;
Fabrizi, Gian Maria

Publication type:

Article

Nerve size correlates with clinical severity in Charcot-Marie-Tooth disease 1A.

Published in:

2019

By:

Zanette, Giampietro;
Tamburin, Stefano;
Taioli, Federica;
Lauriola, Matteo Francesco;
Badari, Andrea;
Ferrarini, Moreno;
Cavallaro, Tiziana;
Fabrizi, Gian Maria

Publication type:

journal article

Nerve ultrasound in patients with CMT1C: Description of 3 cases.

Published in:

Muscle & Nerve, 2015, v. 51, n. 5, p. 781, doi. 10.1002/mus.24474

By:

Luigetti, Marco;
Sabatelli, Mario;
Bellone, Emilia;
Fabrizi, Gian Maria;
Padua, Luca;
Granata, Giuseppe

Publication type:

Article

Correction to: Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease.

Published in:

2023

By:

Bellofatto, Marta;
Gentile, Luca;
Bertini, Alessandro;
Tramacere, Irene;
Manganelli, Fiore;
Fabrizi, Gian Maria;
Schenone, Angelo;
Santoro, Lucio;
Cavallaro, Tiziana;
Grandis, Marina;
Previtali, Stefano C.;
Scarlato, Marina;
Allegri, Isabella;
Padua, Luca;
Pazzaglia, Costanza;
Villani, Flavio;
Cavalca, Eleonora;
Saveri, Paola;
Quattrone, Aldo;
Valentino, Paola

Publication type:

Correction Notice

Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease.

Published in:

Journal of Neurology, 2023, v. 270, n. 11, p. 5561, doi. 10.1007/s00415-023-11911-y

By:

Bellofatto, Marta;
Gentile, Luca;
Bertini, Alessandro;
Tramacere, Irene;
Manganelli, Fiore;
Fabrizi, Gian Maria;
Schenone, Angelo;
Santoro, Lucio;
Cavallaro, Tiziana;
Grandis, Marina;
Previtali, Stefano C.;
Scarlato, Marina;
Allegri, Isabella;
Padua, Luca;
Pazzaglia, Costanza;
Villani, Flavio;
Cavalca, Eleonora;
Saveri, Paola;
Quattrone, Aldo;
Valentino, Paola

Publication type:

Article

Magnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy.

Published in:

Journal of Neurology, 2023, v. 270, n. 10, p. 4827, doi. 10.1007/s00415-023-11813-z

By:

Gasparotti, Roberto;
Salvalaggio, Alessandro;
Corbo, Daniele;
Agazzi, Giorgio;
Cacciavillani, Mario;
Lozza, Alessandro;
Fenu, Silvia;
De Vigili, Grazia;
Tagliapietra, Matteo;
Fabrizi, Gian Maria;
Pareyson, Davide;
Obici, Laura;
Briani, Chiara

Publication type:

Article

Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry.

Published in:

Journal of Neurology, 2023, v. 270, n. 1, p. 394, doi. 10.1007/s00415-022-11365-8

By:

Bellofatto, Marta;
Bertini, Alessandro;
Tramacere, Irene;
Manganelli, Fiore;
Fabrizi, Gian Maria;
Schenone, Angelo;
Santoro, Lucio;
Cavallaro, Tiziana;
Grandis, Marina;
Previtali, Stefano C.;
Allegri, Isabella;
Padua, Luca;
Pazzaglia, Costanza;
Calabrese, Daniela;
Saveri, Paola;
Quattrone, Aldo;
Valentino, Paola;
Tozza, Stefano;
Gentile, Luca;
Russo, Massimo

Publication type:

Article

Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series.

Published in:

Journal of Neurology, 2022, v. 269, n. 10, p. 5668, doi. 10.1007/s00415-022-11184-x

By:

Azzimonti, Matteo;
Fazio, Raffaella;
Giordano, Antonino;
Tagliapietra, Matteo;
Ferrarini, Moreno;
Rocca, Maria Assunta;
Fabrizi, Gian Maria;
Filippi, Massimo;
Colombo, Bruno

Publication type:

Article

Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis.

Published in:

Journal of Neurology, 2022, v. 269, n. 4, p. 1905, doi. 10.1007/s00415-021-10754-9

By:

Salvalaggio, Alessandro;
Coraci, Daniele;
Obici, Laura;
Cacciavillani, Mario;
Luigetti, Marco;
Mazzeo, Anna;
Pastorelli, Francesca;
Grandis, Marina;
Cavallaro, Tiziana;
Bisogni, Giulia;
Lozza, Alessandro;
Gemelli, Chiara;
Gentile, Luca;
Russo, Massimo;
Ermani, Mario;
Fabrizi, Gian Maria;
Plasmati, Rosaria;
De Napoli, Federica;
Campagnolo, Marta;
Castellani, Francesca

Publication type:

Article

RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy.

Published in:

Journal of Neurology, 2021, v. 268, n. 11, p. 4280, doi. 10.1007/s00415-021-10552-3

By:

Tagliapietra, Matteo;
Cardellini, Davide;
Ferrarini, Moreno;
Testi, Silvia;
Ferrari, Sergio;
Monaco, Salvatore;
Cavallaro, Tiziana;
Fabrizi, Gian Maria

Publication type:

Article

High-dose immunoglobulin pulse therapy and risk of Covid19 infection.

Published in:

2021

By:

Prada, Valeria;
Benedetti, Luana;
Cocito, Dario;
Briani, Chiara;
Nobile Orazio, Eduardo;
Gallia, Francesca;
Antonini, Giovanni;
Manganelli, Fiore;
Fabrizi, Gian Maria;
Germano, Francesco;
Grandis, Marina;
Schenone, Angelo

Publication type:

Letter

Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers.

Published in:

Journal of Neurology, 2021, v. 268, n. 1, p. 189, doi. 10.1007/s00415-020-10127-8

By:

Salvalaggio, Alessandro;
Coraci, Daniele;
Cacciavillani, Mario;
Obici, Laura;
Mazzeo, Anna;
Luigetti, Marco;
Pastorelli, Francesca;
Grandis, Marina;
Cavallaro, Tiziana;
Bisogni, Giulia;
Lozza, Alessandro;
Gemelli, Chiara;
Gentile, Luca;
Ermani, Mario;
Fabrizi, Gian Maria;
Plasmati, Rosaria;
Campagnolo, Marta;
Castellani, Francesca;
Gasparotti, Roberto;
Martinoli, Carlo

Publication type:

Article

Thr124Met myelin protein zero mutation mimicking motor neuron disease.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022, v. 23, n. 3/4, p. 299, doi. 10.1080/21678421.2021.1946086

By:

Bisogni, Giulia;
Romano, Angela;
Conte, Amelia;
Tasca, Giorgio;
Bernardo, Daniela;
Luigetti, Marco;
Di Paolantonio, Andrea;
Fabrizi, Gian Maria;
Patanella, Agata Katia;
Meleo, Emiliana;
Sabatelli, Mario

Publication type:

Article

Split Hand Syndrome in Charcot–Marie–Tooth Disease Type X1 (CMTX1): A Clinical, Neurophysiological, and Radiological Study.

Published in:

European Journal of Neurology, 2025, v. 32, n. 5, p. 1, doi. 10.1111/ene.70188

By:

Bertini, Alessandro;
Moscatelli, Marco;
Ciano, Claudia;
Verri, Mattia;
Cavalca, Eleonora;
Sconfienza, Luca Maria;
Grisoli, Marina;
Lanteri, Paola;
Pareyson, Davide;
Pisciotta, Chiara;
Manganelli, Fiore;
Fabrizi, Gian Maria;
Schenone, Angelo;
Tozza, Stefano;
Cavallaro, Tiziana;
Taioli, Federica;
Ferrarini, Moreno;
Grandis, Marina;
Bellone, Emilia;
Mandich, Paola

Publication type:

Article

Clinical and pathology characterization of small nerve fiber neuro(no)pathy in cerebellar ataxia with neuropathy and vestibular areflexia syndrome.

Published in:

European Journal of Neurology, 2023, v. 30, n. 12, p. 3834, doi. 10.1111/ene.16018

By:

Tagliapietra, Matteo;
Incensi, Alex;
Ferrarini, Moreno;
Mesiano, Nazarena;
Furia, Alessandro;
Rizzo, Giovanni;
Liguori, Rocco;
Cavallaro, Tiziana;
Monaco, Salvatore;
Fabrizi, Gian Maria;
Donadio, Vincenzo

Publication type:

Article

Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry.

Published in:

European Journal of Neurology, 2023, v. 30, n. 8, p. 2461, doi. 10.1111/ene.15860

By:

Pisciotta, Chiara;
Bertini, Alessandro;
Tramacere, Irene;
Manganelli, Fiore;
Fabrizi, Gian Maria;
Schenone, Angelo;
Tozza, Stefano;
Cavallaro, Tiziana;
Taioli, Federica;
Ferrarini, Moreno;
Grandis, Marina;
Bellone, Emilia;
Mandich, Paola;
Previtali, Stefano C.;
Falzone, Yuri;
Allegri, Isabella;
Padua, Luca;
Pazzaglia, Costanza;
Quattrone, Aldo;
Valentino, Paola

Publication type:

Article

Risk of disease relapse, safety and tolerability of SARS‐CoV‐2 vaccination in patients with chronic inflammatory neuropathies.

Published in:

European Journal of Neurology, 2023, v. 30, n. 7, p. 1907, doi. 10.1111/ene.15811

By:

Doneddu, Pietro Emiliano;
Briani, Chiara;
Cocito, Dario;
Manganelli, Fiore;
Fabrizi, Gian Maria;
Matà, Sabrina;
Mazzeo, Anna;
Fazio, Raffaella;
Benedetti, Luana;
Luigetti, Marco;
Inghilleri, Maurizio;
Ruiu, Elisa;
Siciliano, Gabriele;
Cosentino, Giuseppe;
Marfia, Girolama Alessandra;
Carpo, Marinella;
Filosto, Massimiliano;
Antonini, Giovanni;
Notturno, Francesca;
Sotgiu, Stefano

Publication type:

Article

Frequency, entity and determinants of fatigue in Charcot–Marie–Tooth disease.

Published in:

European Journal of Neurology, 2023, v. 30, n. 3, p. 710, doi. 10.1111/ene.15643

By:

Bellofatto, Marta;
Bertini, Alessandro;
Tramacere, Irene;
Manganelli, Fiore;
Fabrizi, Gian Maria;
Schenone, Angelo;
Santoro, Lucio;
Cavallaro, Tiziana;
Grandis, Marina;
Previtali, Stefano C.;
Falzone, Yuri;
Allegri, Isabella;
Padua, Luca;
Pazzaglia, Costanza;
Calabrese, Daniela;
Saveri, Paola;
Quattrone, Aldo;
Valentino, Paola;
Tozza, Stefano;
Gentile, Luca

Publication type:

Article

An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy.

Published in:

Amyloid, 2004, v. 11, n. 2, p. 121, doi. 10.1080/13506120410001727767

By:

Frigerio, Roberta;
Fabrizi, Gian Maria;
Ferrarini, Moreno;
Cavallaro, Tiziana;
Brighina, Laura;
Santoro, Patrizia;
Agostoni, Elio;
Cavaletti, Guido;
Rizzuto, Nicolò;
Ferrarese, Carlo

Publication type:

Article

Rare among Rare: Phenotypes of Uncommon CMT Genotypes.

Published in:

Brain Sciences (2076-3425), 2021, v. 11, n. 12, p. 1616, doi. 10.3390/brainsci11121616

By:

Gentile, Luca;
Russo, Massimo;
Taioli, Federica;
Ferrarini, Moreno;
Aguennouz, M'Hammed;
Rodolico, Carmelo;
Toscano, Antonio;
Fabrizi, Gian Maria;
Mazzeo, Anna

Publication type:

Article

Aberrant Splicing in GJB1 and the Relevance of 5′ UTR in CMTX1 Pathogenesis.

Published in:

Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 24, doi. 10.3390/brainsci11010024

By:

Boso, Federica;
Taioli, Federica;
Cabrini, Ilaria;
Cavallaro, Tiziana;
Fabrizi, Gian Maria

Publication type:

Article

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers.

Published in:

Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 780, doi. 10.3390/brainsci10110780

By:

Luigetti, Marco;
Romozzi, Marina;
Bisogni, Giulia;
Cardellini, Davide;
Cavallaro, Tiziana;
Di Paolantonio, Andrea;
Fabrizi, Gian Maria;
Fenu, Silvia;
Gentile, Luca;
Grandis, Marina;
Marucci, Gianluca;
Massucco, Sara;
Mazzeo, Anna;
Pareyson, Davide;
Romano, Angela;
Russo, Massimo;
Schenone, Angelo;
Tagliapietra, Matteo;
Tozza, Stefano;
Vita, Giuseppe

Publication type:

Article

Reply: Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e218, doi. 10.1093/brain/aws035

By:

Fabrizi, Gian Maria;
Taioli, Federica;
Cavallaro, Tiziana

Publication type:

Article

Genetic spectrum of hereditary neuropathies with onset in the first year of life.

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 9, p. 2664, doi. 10.1093/brain/awr184

By:

Baets, Jonathan;
Deconinck, Tine;
De Vriendt, Els;
Zimoń, Magdalena;
Yperzeele, Laetitia;
Van Hoorenbeeck, Kim;
Peeters, Kristien;
Spiegel, Ronen;
Parman, Yesim;
Ceulemans, Berten;
Van Bogaert, Patrick;
Pou-Serradell, Adolf;
Bernert, Günther;
Dinopoulos, Argirios;
Auer-Grumbach, Michaela;
Sallinen, Satu-Leena;
Fabrizi, Gian Maria;
Pauly, Fernand;
Van den Bergh, Peter;
Bilir, Birdal

Publication type:

Article

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 2, p. 608, doi. 10.1093/brain/awq374

By:

Taioli, Federica;
Cabrini, Ilaria;
Cavallaro, Tiziana;
Acler, Michele;
Fabrizi, Gian Maria

Publication type:

Article

Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.

Published in:

2007

By:

Fabrizi GM;
Cavallaro T;
Angiari C;
Cabrini I;
Taioli F;
Malerba G;
Bertolasi L;
Rizzuto N;
Fabrizi, Gian Maria;
Cavallaro, Tiziana;
Angiari, Chiara;
Cabrini, Ilaria;
Taioli, Federica;
Malerba, Giovanni;
Bertolasi, Laura;
Rizzuto, Nicoló

Publication type:

journal article

Charcot–Marie–Tooth disease type 2E, a disorder of the cytoskeleton.

Published in:

Brain: A Journal of Neurology, 2007, v. 130, n. 2, p. 394, doi. 10.1093/brain/awl284

By:

Gian Maria Fabrizi;
Tiziana Cavallaro;
Chiara Angiari;
Ilaria Cabrini;
Federica Taioli;
Giovanni Malerba;
Laura Bertolasi;
Nicolo' Rizzuto

Publication type:

Article

Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0.

Published in:

Journal of Neurology, 2002, v. 249, n. 9, p. 1298, doi. 10.1007/s00415-002-0810-5

By:

Simonati, Alessandro;
Fabrizi, Gian Maria;
Taioli, Federica;
Polo, Alberto;
Cerini, Roberto;
Rizzuto, Nicolò

Publication type:

Article

Heteroplasmy of the A3243G transition of mitochondrial tRNA<sup>Leu(UUR)</sup> in a MELAS case and in a 25-week-old miscarried fetus.

Published in:

Journal of Neurology, 2000, v. 247, n. 11, p. 885, doi. 10.1007/s004150070080

By:

Cardaioli, Elena;
Fabrizi, Gian Maria;
Grieco, Gaetano Salvatore;
Dotti, Maria Teresa;
Federico, Antonio

Publication type:

Article