Works by Santorelli, Filippo

Results: 303

A Child With Ichthyosis and Liver Failure.

Published in:

2017

By:

Indolfi, Giuseppe;
Iascone, Maria;
Remaschi, Giulia;
Donati, Maria A.;
Nesti, Claudia;
Rubegni, Anna;
Pezzoli, Laura;
Buccoliero, Anna M.;
Santorelli, Filippo M.;
Resti, Massimo;
Donati, Maria Alice;
Buccoliero, Anna Maria;
Santorelli, Filippo Maria

Publication type:

journal article

Idiopathic pes cavus in adults is not associated with neurophysiological impairment in the lower limbs.

Published in:

2015

By:

Di Fabio, Roberto;
Lispi, Ludovico;
Santorelli, Filippo;
Castagnoli, Claudio;
Matrigale, Andrea;
Dentini, Alessandra;
Locuratolo, Nicoletta;
Fattapposta, Francesco;
Pierelli, Francesco;
Santorelli, Filippo Maria

Publication type:

journal article

Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.

Published in:

2015

By:

Doccini, Stefano;
Meschini, Maria;
Mei, Davide;
Guerrini, Renzo;
Sicca, Federico;
Santorelli, Filippo;
Meschini, Maria Chiara;
Santorelli, Filippo Maria

Publication type:

journal article

Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2.

Published in:

Epilepsia (Series 4), 2025, v. 66, n. 5, p. 1747, doi. 10.1111/epi.18362

By:

Privitera, Flavia;
Meossi, Camilla;
Santorelli, Filippo Maria;
Bartolini, Emanuele

Publication type:

Article

Empowering clinicians with artificial intelligence in hereditary neuromuscular disorders: Training the Next Generation through the CoMPaSS-NMD Young Investigator Training program and the CoMPaSS-NMD Autumn School Workshop Report.

Published in:

Acta Myologica, 2025, v. 44, n. 2, p. 62, doi. 10.36185/2532-1900-927

By:

Nuredini, Andi;
Savarese, Marco;
Santorelli, Filippo Maria;
Tupler, Rossella Ginevra

Publication type:

Article

Alpha-1-antitrypsin deficiency: from genoma to liver disease. PiZ mouse as model for the development of liver pathology in human.

Published in:

Liver International, 2015, v. 35, n. 1, p. 198, doi. 10.1111/liv.12504

By:

Giovannoni, Isabella;
Callea, Francesco;
Stefanelli, Marta;
Mariani, Riccardo;
Santorelli, Filippo M.;
Francalanci, Paola

Publication type:

Article

Z and Mmalton-1-antitrypsin deficiency-associated hepatocellular carcinoma: a genetic study.

Published in:

Liver International, 2009, v. 29, n. 10, p. 1593, doi. 10.1111/j.1478-3231.2009.02091.x

By:

Francalanci, Paola;
Santorelli, Filippo M.;
Saccani, Simona;
Bonetti, Maria F.;
Medicina, Daniela;
Coni, Pierpaolo;
Faa, Gavino;
Callea, Francesco

Publication type:

Article

Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases.

Published in:

European Radiology, 2022, v. 32, n. 12, p. 8058, doi. 10.1007/s00330-022-08865-6

By:

Cosottini, Mirco;
Donatelli, Graziella;
Ricca, Ivana;
Bianchi, Francesca;
Frosini, Daniela;
Montano, Vincenzo;
Migaleddu, Gianmichele;
Del Prete, Eleonora;
Tessa, Alessandra;
Cecchi, Paolo;
D'Amelio, Claudio;
Siciliano, Gabriele;
Mancuso, Michelangelo;
Santorelli, Filippo Maria

Publication type:

Article

Primary Coenzyme Q10 Deficiency-Related Ataxias.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 8, p. 2391, doi. 10.3390/jcm13082391

By:

Lopriore, Piervito;
Vista, Marco;
Tessa, Alessandra;
Giuntini, Martina;
Caldarazzo Ienco, Elena;
Mancuso, Michelangelo;
Siciliano, Gabriele;
Santorelli, Filippo Maria;
Orsucci, Daniele

Publication type:

Article

Partial Lipodystrophy and LMNA p.R545H Variant.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 5, p. 1142, doi. 10.3390/jcm10051142

By:

Magno, Silvia;
Ceccarini, Giovanni;
Barison, Andrea;
Fabiani, Iacopo;
Giacomina, Alessandro;
Gilio, Donatella;
Pelosini, Caterina;
Rubegni, Anna;
Emdin, Michele;
Gatti, Gian Luca;
Santorelli, Filippo Maria;
Sessa, Maria Rita;
Santini, Ferruccio;
Araújo-Vilar, David

Publication type:

Article

Current and future applications of brain magnetic resonance imaging in ARSACS.

Published in:

Cerebellum, 2025, v. 24, n. 4, p. 1, doi. 10.1007/s12311-025-01842-x

By:

Scaravilli, Alessandra;
Negroni, Davide;
Senatore, Claudio;
Santorelli, Filippo Maria;
Cocozza, Sirio

Publication type:

Article

Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS.

Published in:

Cerebellum, 2025, v. 24, n. 2, p. 1, doi. 10.1007/s12311-025-01791-5

By:

De Riso, Giulia;
Naef, Valentina;
Damiani, Devid;
Doccini, Stefano;
Santorelli, Filippo M.;
Galatolo, Daniele

Publication type:

Article

Pseudodominance in RFC1-Spectrum Disorder.

Published in:

Cerebellum, 2024, v. 23, n. 6, p. 2622, doi. 10.1007/s12311-024-01735-5

By:

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

Publication type:

Article

CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report.

Published in:

2024

By:

De Riggi, Martina;
De Giorgi, Agnese;
Pollini, Luca;
Angelini, Luca;
Paparella, Giulia;
Cannavacciuolo, Antonio;
Birreci, Daniele;
Costa, Davide;
Tessa, Alessandra;
Natale, Gemma;
Fiorelli, Marco;
Galatolo, Daniele;
Santorelli, Filippo Maria;
Galosi, Serena;
Bologna, Matteo

Publication type:

Case Study

CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias.

Published in:

Cerebellum, 2024, v. 23, n. 5, p. 2122, doi. 10.1007/s12311-024-01677-y

By:

Scaravilli, Alessandra;
Tranfa, Mario;
Pontillo, Giuseppe;
Brais, Bernard;
De Michele, Giovanna;
La Piana, Roberta;
Saccà, Francesco;
Santorelli, Filippo Maria;
Synofzik, Matthis;
Brunetti, Arturo;
Cocozza, Sirio

Publication type:

Article

Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers.

Published in:

Cerebellum, 2024, v. 23, n. 3, p. 881, doi. 10.1007/s12311-023-01561-1

By:

Santorelli, Filippo M.;
McLoughlin, Hayley S.;
Wolter, Justin M.;
Galatolo, Daniele;
Synofzik, Matthis;
Mengel, David;
Opal, Puneet;
Irina, Antonijevic;
Georg, Auburger;
Luis, Bataller;
Enrico, Bertini;
Sylvia, Boesch;
Samantha, Boeshore;
Ronald, Buijsen;
Edwin, Chan;
Giulia, Coarelli;
Nicolas, Dupré;
Alexandra, Durr;
Andreas, Eigentler;
Ewelina, Elert-Dobkowska

Publication type:

Article

A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism.

Published in:

Cerebellum, 2024, v. 23, n. 2, p. 757, doi. 10.1007/s12311-023-01562-0

By:

Scaravilli, Alessandra;
Tranfa, Mario;
Pontillo, Giuseppe;
Brais, Bernard;
De Michele, Giovanna;
La Piana, Roberta;
Saccà, Francesco;
Santorelli, Filippo Maria;
Synofzik, Matthis;
Brunetti, Arturo;
Cocozza, Sirio

Publication type:

Article

Correction to: The Strange Case of the Multiple MRI Phenotypes of RFC1 Mutation.

Published in:

2023

By:

Mascalchi, Mario;
Santorelli, Filippo M.

Publication type:

Correction Notice

The Strange Case of the Multiple MRI Phenotypes of RFC1 Mutation.

Published in:

Cerebellum, 2023, v. 22, n. 3, p. 478, doi. 10.1007/s12311-022-01401-8

By:

Mascalchi, Mario;
Santorelli, Filippo M.

Publication type:

Article

Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.

Published in:

Cerebellum, 2017, v. 16, n. 3, p. 742, doi. 10.1007/s12311-017-0843-z

By:

Mascalchi, Mario;
Mari, Francesco;
Berti, Beatrice;
Bartolini, Emanuele;
Lenge, Matteo;
Bianchi, Andrea;
Antonucci, Laura;
Santorelli, Filippo;
Garavaglia, Barbara;
Guerrini, Renzo

Publication type:

Article

Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?

Published in:

Cerebellum, 2014, v. 13, n. 1, p. 79, doi. 10.1007/s12311-013-0521-8

By:

Poretti, Andrea;
Häusler, Martin;
Moers, Arpad;
Baumgartner, Bastian;
Zerres, Klaus;
Klein, Andrea;
Aiello, Chiara;
Moro, Francesca;
Zanni, Ginevra;
Santorelli, Filippo;
Huisman, Thierry;
Weis, Joachim;
Valente, Enza;
Bertini, Enrico;
Boltshauser, Eugen

Publication type:

Article

Cerebellar Atrophy in Congenital Fibrosis of the Extraocular Muscles Type 1.

Published in:

2013

By:

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

Publication type:

Letter

Infantile Childhood Onset of Spinocerebellar Ataxia Type 2.

Published in:

Cerebellum, 2012, v. 11, n. 2, p. 526, doi. 10.1007/s12311-011-0315-9

By:

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

Publication type:

Article

Thickening of Peripapillar Retinal Fibers for the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Published in:

Cerebellum, 2011, v. 10, n. 4, p. 758, doi. 10.1007/s12311-011-0286-x

By:

Desserre, Jeremy;
Devos, David;
Sautière, Bruno;
Debruyne, Philippe;
Santorelli, Filippo;
Vuillaume, Isabelle;
Defoort-Dhellemmes, Sabine

Publication type:

Article

Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss.

Published in:

Genetics Research International, 2011, p. 1, doi. 10.4061/2011/587602

By:

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

Publication type:

Article

NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors.

Published in:

European Neurology, 2023, v. 86, n. 3, p. 185, doi. 10.1159/000529706

By:

Petrucci, Antonio;
Lispi, Ludovico;
Garibaldi, Matteo;
Frezza, Erika;
Moro, Francesca;
Massa, Roberto;
Santorelli, Filippo Maria

Publication type:

Article

Early Onset of Diabetes Mellitus Associated with the Mitochondrial DNA T14709C Point Mutation: Patient Report and Literature Review.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 2, p. 207, doi. 10.1515/jpem.1999.12.2.207

By:

Elizabeth Damore, Mary;
Speiser, Phyllis W.;
Slonim, Alfred E.;
New, Maria I.;
Shanske, Sara;
Xia, Wenlang;
Santorelli, Filippo M.;
DiMauro, Salvatore

Publication type:

Article

Exploring the Clinical Spectrum of HUWE1‐Related Neurodevelopmental Disorder: Five New Patients and Literature Review.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63959

By:

De Falco, Alessandro;
Minale, Elia Marco Paolo;
Meossi, Camilla;
Pagano, Stefano;
Trovato, Rosanna;
Agolini, Emanuele;
Mucciolo, Mafalda;
Novelli, Antonio;
Bartolini, Emanuele;
Santorelli, Filippo Maria;
Piscopo, Carmelo

Publication type:

Article

Mitochondrial Myopathy and Respiratory Failure Associated With a New Mutation in the Mitochondrial Transfer Ribonucleic Acid Glutamic Acid Gene.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 4, p. 300, doi. 10.1177/08830738030180040401

By:

Bruno, Claudio;
Sacco, Oliviero;
Santorelli, Filippo M.;
Assereto, Stefania;
Tonoli, Emmanuel;
Bado, Massimo;
Rossi, Giovanni A.;
Minetti, Carlo

Publication type:

Article

Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses.

Published in:

Frontiers in Cellular Neuroscience, 2024, p. 1, doi. 10.3389/fncel.2024.1445003

By:

Santucci, Lorenzo;
Bernardi, Sara;
Vivarelli, Rachele;
Santorelli, Filippo Maria;
Marchese, Maria

Publication type:

Article

Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders.

Published in:

Clinical Chemistry, 2011, v. 57, n. 11, p. 1584, doi. 10.1373/clinchem.2011.168898

By:

Piluso, Giulio;
Dionisi, Manuela;
Vecchio Blanco, Francesca Del;
Torella, Annalaura;
Aurino, Stefania;
Savarese, Marco;
Giugliano, Teresa;
Bertini, Enrico;
Terracciano, Alessandra;
Vainzof, Mariz;
Criscuolo, Chiara;
Politano, Luisa;
Casali, Carlo;
Santorelli, Filippo Maria;
Nigro, Vincenzo

Publication type:

Article

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4‐Related Hereditary Spastic Paraplegia.

Published in:

Movement Disorders, 2023, v. 38, n. 9, p. 1742, doi. 10.1002/mds.29524

By:

Alecu, Julian E.;
Saffari, Afshin;
Ziegler, Marvin;
Jordan, Catherine;
Tam, Amy;
Kim, Soyoung;
Leung, Edward;
Szczaluba, Krzysztof;
Mierzewska, Hanna;
King, Staci D.;
Santorelli, Filippo M.;
Yoon, Grace;
Trombetta, Bianca;
Kivisäkk, Pia;
Zhang, Bo;
Sahin, Mustafa;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.

Published in:

Movement Disorders, 2023, v. 38, n. 6, p. 1109, doi. 10.1002/mds.29397

By:

Traschütz, Andreas;
Adarmes‐Gomez, Astrid D.;
Anheim, Mathieu;
Baets, Jonathan;
Falkenburger, Björn H.;
Gburek‐Augustat, Janina;
Doss, Sarah;
Kamm, Christoph;
Klivenyi, Peter;
Grobe‐Einsler, Marcus;
Klopstock, Thomas;
Minnerop, Martina;
Münchau, Alexander;
Pane, Chiara;
Renaud, Mathilde;
Santorelli, Filippo M.;
Schöls, Ludger;
Timmann, Dagmar;
Vielhaber, Stefan;
Haack, Tobias B.

Publication type:

Article

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

Published in:

Movement Disorders, 2013, v. 28, n. 2, p. 252, doi. 10.1002/mds.25275

By:

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

Publication type:

Article

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

Published in:

Movement Disorders, 2011, v. 26, n. 3, p. 553, doi. 10.1002/mds.23552

By:

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

Publication type:

Article

Identification of a de novo mutation in SPG11.

Published in:

Movement Disorders, 2010, v. 25, n. 4, p. 501, doi. 10.1002/mds.22964

By:

Denora, Paola S.;
Brockmann, Knut;
Ciccolella, Marianna;
Truchetto, Jeremy;
Stevanin, Giovanni;
Santorelli, Filippo M.

Publication type:

Article

Convolutional Neural Network-Based Automated Segmentation of Skeletal Muscle and Subcutaneous Adipose Tissue on Thigh MRI in Muscular Dystrophy Patients.

Published in:

Journal of Functional Morphology & Kinesiology, 2024, v. 9, n. 3, p. 123, doi. 10.3390/jfmk9030123

By:

Aringhieri, Giacomo;
Astrea, Guja;
Marfisi, Daniela;
Fanni, Salvatore Claudio;
Marinella, Gemma;
Pasquariello, Rosa;
Ricci, Giulia;
Sansone, Francesco;
Sperti, Martina;
Tonacci, Alessandro;
Torri, Francesca;
Matà, Sabrina;
Siciliano, Gabriele;
Neri, Emanuele;
Santorelli, Filippo Maria;
Conte, Raffaele

Publication type:

Article

Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction.

Published in:

Cell Death Discovery, 2020, v. 6, n. 1, p. 1, doi. 10.1038/s41420-020-0250-y

By:

Doccini, Stefano;
Morani, Federica;
Nesti, Claudia;
Pezzini, Francesco;
Calza, Giulio;
Soliymani, Rabah;
Signore, Giovanni;
Rocchiccioli, Silvia;
Kanninen, Katja M.;
Huuskonen, Mikko T.;
Baumann, Marc H.;
Simonati, Alessandro;
Lalowski, Maciej M.;
Santorelli, Filippo M.

Publication type:

Article

STOP-HSP.net: An Italian formal registry for clinical trial readiness in hereditary spastic paraplegias.

Published in:

Neurological Sciences, 2025, v. 46, n. 6, p. 2839, doi. 10.1007/s10072-025-08067-0

By:

Satolli, Sara;
Rossi, Salvatore;
Boccuni, Leonardo;
Martinuzzi, Andrea;
Musumeci, Olimpia;
Rizzo, Giovanni;
Rossi, Elisa;
Silvestri, Gabriella;
Santorelli, Filippo Maria

Publication type:

Article

Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy.

Published in:

Neurological Sciences, 2024, v. 45, n. 12, p. 5933, doi. 10.1007/s10072-024-07747-7

By:

Di Sarno, Isabella;
Tozza, Stefano;
Santorelli, Filippo Maria;
Cassano, Emanuele;
Natale, Gemma;
Dubbioso, Raffaele;
Ruggiero, Lucia;
Tessa, Alessandra;
Iodice, Rosa;
Nolano, Maria;
Manganelli, Fiore

Publication type:

Article

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.

Published in:

Neurological Sciences, 2024, v. 45, n. 8, p. 3845, doi. 10.1007/s10072-024-07423-w

By:

Cioffi, Ettore;
Gioiosa, Valeria;
Tessa, Alessandra;
Petrucci, Antonio;
Trovato, Rosanna;
Santorelli, Filippo Maria;
Casali, Carlo

Publication type:

Article

Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation.

Published in:

Neurological Sciences, 2023, v. 44, n. 4, p. 1415, doi. 10.1007/s10072-023-06607-0

By:

Lopergolo, Diego;
Salvatore, Simona;
Sorrentino, Vincenzo;
Malandrini, Alessandro;
Santorelli, Filippo Maria;
Battisti, Carla

Publication type:

Article

Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.

Published in:

Neurological Sciences, 2022, v. 43, n. 9, p. 5501, doi. 10.1007/s10072-022-06145-1

By:

Giannoccaro, Maria Pia;
Matteo, Eleonora;
Bartiromo, Fiorina;
Tonon, Caterina;
Santorelli, Filippo M.;
Liguori, Rocco;
Rizzo, Giovanni

Publication type:

Article

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.

Published in:

Neurological Sciences, 2022, v. 43, n. 2, p. 1071, doi. 10.1007/s10072-021-05462-1

By:

Di Donato, Ilaria;
Gallo, Antonio;
Ricca, Ivana;
Fini, Nicola;
Silvestri, Gabriella;
Gurrieri, Fiorella;
Cirillo, Mario;
Cerase, Alfonso;
Natale, Gemma;
Matrone, Federica;
Riso, Vittorio;
Melone, Mariarosa Anna Beatrice;
Tessa, Alessandra;
De Michele, Giovanna;
Federico, Antonio;
Filla, Alessandro;
Dotti, Maria Teresa;
Santorelli, Filippo Maria

Publication type:

Article

Spinocerebellar ataxia type 48: last but not least.

Published in:

2021

By:

De Michele, Giuseppe;
Santorelli, Filippo

Publication type:

Letter

Spinocerebellar ataxia type 48: last but not least.

Published in:

2020

By:

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

Publication type:

journal article

Awareness of rare and genetic neurological diseases among italian neurologist. A national survey.

Published in:

2020

By:

Mancuso, Michelangelo;
Filosto, Massimiliano;
Lamperti, Costanza;
Musumeci, Olimpia;
Santorelli, Filippo M;
Servidei, Serenella;
Valente, Enza M;
Zeviani, Massimo;
Mancardi, Gianluigi;
Tedeschi, Gioacchino;
Federico, Antonio

Publication type:

journal article

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

Published in:

2020

By:

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

Publication type:

journal article

Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation.

Published in:

2019

By:

Nesti, Claudia;
Rubegni, Anna;
Tolomeo, Deborah;
Baldacci, Jacopo;
Cassandrini, Denise;
D'Amore, Francesca;
Santorelli, Filippo M.

Publication type:

journal article

Degenerative and acquired sporadic adult onset ataxia.

Published in:

2019

By:

Lieto, Maria;
Roca, Alessandro;
Santorelli, Filippo Maria;
Fico, Tommasina;
De Michele, Giovanna;
Bellofatto, Marta;
Saccà, Francesco;
De Michele, Giuseppe;
Filla, Alessandro

Publication type:

journal article