Works by Mignarri, Andrea

Results: 34

Primary familial brain calcification: Genetic analysis and clinical spectrum.

Published in:

Movement Disorders, 2014, v. 29, n. 13, p. 1691, doi. 10.1002/mds.26053

By:

Taglia, Ilaria;
Mignarri, Andrea;
Olgiati, Simone;
Menci, Elisabetta;
Petrocelli, Patrizia L.;
Breedveld, Guido J.;
Scaglione, Cesa;
Martinelli, Paolo;
Federico, Antonio;
Bonifati, Vincenzo;
Dotti, Maria Teresa

Publication type:

Article

24S-Hydroxycholesterol and Cerebellar Degeneration: Insights from SCA2.

Published in:

Cerebellum, 2023, v. 22, n. 5, p. 1020, doi. 10.1007/s12311-022-01448-7

By:

Locci, Sara;
Nidiaci, Valentina;
De Stefano, Nicola;
Leoni, Valerio;
Mignarri, Andrea

Publication type:

Article

Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study.

Published in:

2021

By:

Stelten, Bianca M. L.;
Dotti, Maria Teresa;
Verrips, Aad;
Elibol, Bülent;
Falik-Zaccai, Tzipora C.;
Hanman, Kate;
Mignarri, Andrea;
Sithole, Belina;
Steiner, Robert D.;
Verma, Surabhi;
Yahalom, Gilad;
Zubarioglu, Tanyel;
Mochel, Fanny;
Federico, Antonio

Publication type:

journal article

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. 1643, doi. 10.1093/brain/awu069

By:

Moghadam, Keivan Kaveh;
Pizza, Fabio;
La Morgia, Chiara;
Franceschini, Christian;
Tonon, Caterina;
Lodi, Raffaele;
Barboni, Piero;
Seri, Marco;
Ferrari, Simona;
Liguori, Rocco;
Donadio, Vincenzo;
Parchi, Piero;
Cornelio, Ferdinando;
Inzitari, Domenico;
Mignarri, Andrea;
Capocchi, Giuseppe;
Dotti, Maria Teresa;
Winkelmann, Juliane;
Lin, Ling;
Mignot, Emmanuel

Publication type:

Article

Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 75, doi. 10.1007/s10545-015-9873-1

By:

Mignarri, Andrea;
Magni, Alessandro;
Puppo, Marina;
Gallus, Gian;
Björkhem, Ingemar;
Federico, Antonio;
Dotti, Maria

Publication type:

Article

A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 421, doi. 10.1007/s10545-013-9674-3

By:

Mignarri, Andrea;
Gallus, Gian;
Dotti, Maria;
Federico, Antonio

Publication type:

Article

Primary familial brain calcification: update on molecular genetics.

Published in:

Neurological Sciences, 2015, v. 36, n. 5, p. 787, doi. 10.1007/s10072-015-2110-8

By:

Taglia, Ilaria;
Bonifati, Vincenzo;
Mignarri, Andrea;
Dotti, Maria;
Federico, Antonio

Publication type:

Article

Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4.

Published in:

Neurological Sciences, 2014, v. 35, n. 8, p. 1287, doi. 10.1007/s10072-014-1707-7

By:

Ginanneschi, Federica;
Carluccio, Maria;
Mignarri, Andrea;
Tessa, Alessandra;
Santorelli, Filippo;
Rossi, Alessandro;
Federico, Antonio;
Dotti, Maria

Publication type:

Article

From the liver to the brain: manganese matters: focus on cirrhosis-related Parkinsonism.

Published in:

2014

By:

Mignarri, Andrea;
Federico, Antonio

Publication type:

journal article

From the liver to the brain: manganese matters.

Published in:

Neurological Sciences, 2014, v. 35, n. 4, p. 521, doi. 10.1007/s10072-014-1665-0

By:

Mignarri, Andrea;
Federico, Antonio

Publication type:

Article

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

Published in:

Neurological Sciences, 2014, v. 35, n. 1, p. 95, doi. 10.1007/s10072-013-1592-5

By:

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

Publication type:

Article

Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis.

Published in:

2013

By:

Caroppo, Paola;
D'Agata, Federico;
Mignarri, Andrea;
Stromillo, Maria;
Dotti, Maria;
Mongini, Tiziana

Publication type:

Letter

Myotonic dystrophy type 2 and autoimmune chronic gastritis: an incidental association?

Published in:

2011

By:

Sicurelli, Francesco;
Mignarri, Andrea;
Cardani, Rosanna;
Mondelli, Mauro;
Carluccio, Alessandra;
Marino, Daniela;
Meola, Giovanni;
Federico, Antonio;
Dotti, Maria

Publication type:

Letter

First report of an Iraqi Kurdish CADASIL patient.

Published in:

2011

By:

Mignarri, Andrea;
Martini, Giuseppe;
Malandrini, Alessandro;
Bellini, Matteo;
Bianchi, Silvia;
Tassi, Rossana;
Federico, Antonio;
Dotti, Maria

Publication type:

Letter

Occurrence of ankylosing spondylitis and multiple sclerosis-like syndrome in a HLA-B27 positive patient.

Published in:

Neurological Sciences, 2009, v. 30, n. 4, p. 329, doi. 10.1007/s10072-009-0092-0

By:

Mignarri, Andrea;
Dotti, Maria Teresa;
Battisti, Carla;
Vallone, Ignazio;
Federico, Antonio

Publication type:

Article

Clinical Features and Outcome of the Guillain-Barre Syndrome: A Single-Center 11-Year Experience.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.856091

By:

Ginanneschi, Federica;
Giannini, Fabio;
Sicurelli, Francesco;
Battisti, Carla;
Capoccitti, Giorgio;
Bartalini, Sabina;
Mignarri, Andrea;
Volpi, Nila;
Cioncoloni, David;
Franci, Laura;
De Stefano, Nicola;
Rossi, Alessandro

Publication type:

Article

Clinical Features and Outcome of the Guillain–Barre Syndrome: A Single-Center 11-Year Experience.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.856091

By:

Ginanneschi, Federica;
Giannini, Fabio;
Sicurelli, Francesco;
Battisti, Carla;
Capocciti, Giorgio;
Bartalini, Sabina;
Mignarri, Andrea;
Volpi, Nila;
Cioncoloni, David;
Franci, Laura;
De Stefano, Nicola;
Rossi, Alessandro

Publication type:

Article

Demyelinating polyneuropathy in a case of anti-LGI1 encephalitis.

Published in:

2017

By:

Tumminelli, Gemma;
Battisti, Carla;
Cioni, Chiara;
Mignarri, Andrea;
Annunziata, Pasquale;
Federico, Antonio

Publication type:

Case Study

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1486977

By:

Lucchiari, Sabrina;
Fortunato, Francesco;
Meola, Giovanni;
Mignarri, Andrea;
Pagliarani, Serena;
Corti, Stefania;
Comi, Giacomo P.;
Ronchi, Dario

Publication type:

Article

The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis.

Published in:

Journal of Physiology, 2017, v. 595, n. 11, p. 3607, doi. 10.1113/JP273670

By:

Rosini, Francesca;
Pretegiani, Elena;
Mignarri, Andrea;
Optican, Lance M.;
Serchi, Valeria;
Stefano, Nicola;
Battaglini, Marco;
Monti, Lucia;
Dotti, Maria T.;
Federico, Antonio;
Rufa, Alessandra

Publication type:

Article

Long-Term Bone Density Evaluation in Cerebrotendinous Xanthomatosis: Evidence of Improvement after Chenodeoxycholic Acid Treatment.

Published in:

Calcified Tissue International, 2013, v. 92, n. 3, p. 282, doi. 10.1007/s00223-012-9677-3

By:

Martini, Giuseppe;
Mignarri, Andrea;
Ruvio, Martina;
Valenti, Roberto;
Franci, Beatrice;
Puppo, Marina;
Federico, Antonio;
Nuti, Ranuccio;
Dotti, Maria

Publication type:

Article

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

Published in:

Journal of Neurology, 2022, v. 269, n. 3, p. 1476, doi. 10.1007/s00415-021-10712-5

By:

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

Publication type:

Article

The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression.

Published in:

Journal of Neurology, 2017, v. 264, n. 5, p. 862, doi. 10.1007/s00415-017-8440-0

By:

Mignarri, Andrea;
Dotti, Maria;
Federico, Antonio;
Stefano, Nicola;
Battaglini, Marco;
Grazzini, Irene;
Galluzzi, Paolo;
Monti, Lucia

Publication type:

Article

Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion.

Published in:

2016

By:

Gaetani, Lorenzo;
Mignarri, Andrea;
Di Gregorio, Maria;
Sarchielli, Paola;
Malandrini, Alessandro;
Cardaioli, Elena;
Calabresi, Paolo;
Dotti, Maria;
Di Filippo, Massimiliano

Publication type:

Letter

Treatment of SPG5 with cholesterol-lowering drugs.

Published in:

2015

By:

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

Publication type:

Letter

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

Published in:

2014

By:

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

Publication type:

Letter

Lithium neurotoxicity mimicking rapidly progressive dementia.

Published in:

2013

By:

Mignarri, Andrea;
Chini, Elena;
Rufa, Alessandra;
Rocchi, Raffaele;
Federico, Antonio;
Dotti, Maria

Publication type:

Letter

Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation.

Published in:

2012

By:

Mignarri, Andrea;
Dotti, Maria;
Puppo, Marina;
Gallus, Gian;
Giorgio, Antonio;
Cerase, Alfonso;
Monti, Lucia

Publication type:

Letter

Primary familial brain calcification with mild phenotype due to a new PDGFB mutation.

Published in:

2022

By:

Locci, Sara;
Bianchi, Silvia;
De Stefano, Nicola;
Mignarri, Andrea

Publication type:

journal article

Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.

Published in:

Neurological Sciences, 2021, v. 42, n. 12, p. 5365, doi. 10.1007/s10072-021-05538-y

By:

Locci, Sara;
Cardani, Rosanna;
Brunori, Paola;
Lucchiari, Sabrina;
Comi, Giacomo P.;
Federico, Antonio;
De Stefano, Nicola;
Meola, Giovanni;
Mignarri, Andrea

Publication type:

Article

The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies.

Published in:

2020

By:

Verrips, Aad;
Dotti, Maria Teresa;
Mignarri, Andrea;
Stelten, Bianca M. L.;
Verma, Sue;
Federico, Antonio

Publication type:

journal article

Brachial plexopathy due to breast cancer metastases: electrophysiological and imaging findings.

Published in:

2018

By:

Peppoloni, Giulia;
Baglioni, Tiziana;
Dotti, Maria Teresa;
Fausto, Alfonso;
Mignarri, Andrea

Publication type:

Case Study

Imaging of the thymus in myotonic dystrophy type 1.

Published in:

2018

By:

Mignarri, Andrea;
Gentili, Francesco;
Masia, Francesco;
Genua, Angelo;
Cenciarelli, Silvia;
Brunori, Paola;
Mazzei, Maria Antonietta;
Malandrini, Alessandro;
Federico, Antonio;
Mazzei, Francesco Giuseppe;
Dotti, Maria Teresa

Publication type:

journal article

C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease.

Published in:

2017

By:

Pati, Alba;
Battisti, Carla;
Battistini, Stefania;
Ricci, Claudia;
Trapassi, Antonella;
Marconi, Roberto;
Mignarri, Andrea;
Federico, Antonio;
Dotti, Maria;
Pati, Alba Rosa;
Dotti, Maria Teresa

Publication type:

Case Study