Works matching AU Cinnante, Claudia

Results: 50

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1320

By:

Telese, Roberta;
Pagliarani, Serena;
Lerario, Alberto;
Ciscato, Patrizia;
Fagiolari, Gigliola;
Cassandrini, Denise;
Grimoldi, Nadia;
Conte, Giorgio;
Cinnante, Claudia;
Santorelli, Filippo M.;
Comi, Giacomo P.;
Sciacco, Monica;
Peverelli, Lorenzo

Publication type:

Article

Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature.

Published in:

Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00859

By:

Borsani, Oscar;
Piga, Daniela;
Costa, Stefania;
Govoni, Alessandra;
Magri, Francesca;
Artoni, Andrea;
Cinnante, Claudia M.;
Fagiolari, Gigliola;
Ciscato, Patrizia;
Moggio, Maurizio;
Bresolin, Nereo;
Comi, Giacomo P.;
Corti, Stefania

Publication type:

Article

Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature.

Published in:

Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00619

By:

Gagliardi, Delia;
Faravelli, Irene;
Villa, Luisa;
Pero, Guglielmo;
Cinnante, Claudia;
Brusa, Roberta;
Mauri, Eleonora;
Tresoldi, Laura;
Magri, Francesca;
Govoni, Alessandra;
Bresolin, Nereo;
Comi, Giacomo P.;
Corti, Stefania

Publication type:

Article

Structural and metabolic cerebral alterations between elderly bipolar disorder and behavioural variant frontotemporal dementia: A combined MRI-PET study.

Published in:

Australian & New Zealand Journal of Psychiatry, 2019, v. 53, n. 5, p. 413, doi. 10.1177/0004867418815976

By:

Delvecchio, Giuseppe;
Mandolini, Gian Mario;
Arighi, Andrea;
Prunas, Cecilia;
Mauri, Carlo Massimo;
Pietroboni, Anna M;
Marotta, Giorgio;
Cinnante, Claudia Maria;
Triulzi, Fabio Maria;
Galimberti, Daniela;
Scarpini, Elio;
Altamura, Alfredo Carlo;
Brambilla, Paolo

Publication type:

Article

Fetal development of the corpus callosum: Insights from a 3T DTI and tractography study in a patient with segmental callosal agenesis.

Published in:

Neuroradiology Journal, 2016, v. 29, n. 5, p. 323, doi. 10.1177/1971400916665390

By:

Scola, Elisa;
Sirgiovanni, Ida;
Avignone, Sabrina;
Cinnante, Claudia Maria;
Biffi, Riccardo;
Fumagalli, Monica;
Triulzi, Fabio

Publication type:

Article

Value of structured reporting in neuromuscular disorders.

Published in:

La Radiologia Medica, 2019, v. 124, n. 7, p. 628, doi. 10.1007/s11547-019-01012-0

By:

Alessandrino, Francesco;
Cristiano, Lara;
Cinnante, Claudia Maria;
Tartaglione, Tommaso;
Gerevini, Simonetta;
Verdolotti, Tommaso;
Colafati, Giovanna Stefania;
Ghione, Emanuele;
Vitale, Raimondo;
Peverelli, Lorenzo;
Brogna, Claudia;
Berardinelli, Angela;
Moggio, Maurizio;
Mercuri, Eugenio M.;
Pichiecchio, Anna

Publication type:

Article

Severe and isolated headache associated with hypertension as unique clinical presentation of posterior reversible encephalopathy syndrome.

Published in:

BMC Pediatrics, 2014, v. 14, n. 1, p. 190, doi. 10.1186/1471-2431-14-190

By:

Milani, Gregorio Paolo;
Edefonti, Alberto;
Tardini, Giacomo;
Arturi, Elisa;
Cinnante, Claudia Maria;
Laicini, Emanuela Anna;
Leva, Ernesto;
Cappellari, Alberto Maria;
Agostoni, Carlo;
Fossali, Emilio Filippo

Publication type:

Article

Severe and isolated headache associated with hypertension as unique clinical presentation of posterior reversible encephalopathy syndrome.

Published in:

2014

By:

Milani, Gregorio Paolo;
Edefonti, Alberto;
Tardini, Giacomo;
Arturi, Elisa;
Cinnante, Claudia Maria;
Laicini, Emanuela Anna;
Leva, Ernesto;
Cappellari, Alberto Maria;
Agostoni, Carlo;
Fossali, Emilio Filippo

Publication type:

journal article

CSF β-amyloid predicts prognosis in patients with multiple sclerosis.

Published in:

Multiple Sclerosis Journal, 2019, v. 25, n. 9, p. 1223, doi. 10.1177/1352458518791709

By:

Pietroboni, Anna M;
Caprioli, Michela;
Carandini, Tiziana;
Scarioni, Marta;
Ghezzi, Laura;
Arighi, Andrea;
Cioffi, Sara;
Cinnante, Claudia;
Fenoglio, Chiara;
Oldoni, Emanuela;
De Riz, Milena A;
Basilico, Paola;
Fumagalli, Giorgio G;
Colombi, Annalisa;
Giulietti, Giovanni;
Serra, Laura;
Triulzi, Fabio;
Bozzali, Marco;
Scarpini, Elio;
Galimberti, Daniela

Publication type:

Article

Minimally invasive fetal surgery for myelomeningocele: preliminary report from a single center.

Published in:

Neurosurgical Focus, 2019, v. 47, n. 4, p. 1, doi. 10.3171/2019.8.FOCUS19438

By:

Carrabba, Giorgio;
Macchini, Francesco;
Fabietti, Isabella;
Schisano, Luigi;
Meccariello, Giulia;
Campanella, Rolando;
Bertani, Giulio;
Locatelli, Marco;
Boito, Simona;
Porro, Giuliana A.;
Gabetta, Lorenzo;
Picciolini, Odoardo;
Cinnante, Claudia;
Triulzi, Fabio;
Ciralli, Fabrizio;
Mosca, Fabio;
Lapa, Denise A.;
Leva, Ernesto;
Rampini, Paolo;
Persico, Nicola

Publication type:

Article

Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature.

Published in:

2022

By:

Consales, Alessandra;
Ardemani, Giulia;
Cinnante, Claudia Maria;
Catalano, Mariana Rita;
Giavoli, Claudia;
Villa, Roberta;
Iascone, Maria;
Fontana, Camilla;
Bedeschi, Maria Francesca;
Fumagalli, Monica

Publication type:

journal article

Brain abscess due to Streptococcus intermedius in a 3-year-old child.

Published in:

Pediatrics International, 2011, v. 53, n. 6, p. 1104, doi. 10.1111/j.1442-200X.2011.03479.x

By:

Esposito, Susanna;
Bosis, Samantha;
Dusi, Elisa;
Cinnante, Claudia;
Principi, Nicola

Publication type:

Article

Early Findings in Neonatal Cases of RYR1 –Related Congenital Myopathies.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.664618

By:

Mauri, Eleonora;
Piga, Daniela;
Govoni, Alessandra;
Brusa, Roberta;
Pagliarani, Serena;
Ripolone, Michela;
Dilena, Robertino;
Cinnante, Claudia;
Sciacco, Monica;
Cassandrini, Denise;
Nigro, Vincenzo;
Bresolin, Nereo;
Corti, Stefania;
Comi, Giacomo P.;
Magri, Francesca

Publication type:

Article

Case Report: Efficacy of Rituximab in a Patient With Familial Mediterranean Fever and Multiple Sclerosis.

Published in:

Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.591395

By:

Pozzato, Mattia;
Micaglio, Emanuele;
Starvaggi Cucuzza, Chiara;
Cagol, Alessandro;
Galimberti, Daniela;
Calandrella, Daniela;
Cinnante, Claudia;
Pappone, Carlo;
Zanussi, Monica;
Meola, Giovanni;
Scarpini, Elio;
Bresolin, Nereo;
Martinelli Boneschi, Filippo

Publication type:

Article

Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement.

Published in:

Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.569153

By:

Paoletti, Matteo;
Pichiecchio, Anna;
Colafati, Giovanna Stefania;
Conte, Giorgio;
Deodato, Federica;
Gasperini, Serena;
Menni, Francesca;
Furlan, Francesca;
Rubert, Laura;
Triulzi, Fabio Maria;
Cinnante, Claudia

Publication type:

Article

Duropathy as a rare motor neuron disease mimic: from bibrachial amyotrophy to infratentorial superficial siderosis.

Published in:

BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03799-6

By:

Iakovleva, Viktoriia;
Verde, Federico;
Cinnante, Claudia;
Sillani, Alessandro;
Conte, Giorgio;
Corsini, Elena;
Ciusani, Emilio;
Erbetta, Alessandra;
Silani, Vincenzo;
Ticozzi, Nicola

Publication type:

Article

Intracranial haemorrhage: an incidental finding at magnetic resonance imaging in a cohort of late preterm and term infants.

Published in:

Pediatric Radiology, 2014, v. 44, n. 3, p. 289, doi. 10.1007/s00247-013-2826-7

By:

Sirgiovanni, Ida;
Avignone, Sabrina;
Groppo, Michela;
Bassi, Laura;
Passera, Sofia;
Schiavolin, Paola;
Lista, Gianluca;
Cinnante, Claudia;
Triulzi, Fabio;
Fumagalli, Monica;
Mosca, Fabio

Publication type:

Article

Sexual Dimorphism in the Brain Correlates of Adult-Onset Depression: A Pilot Structural and Functional 3T MRI Study.

Published in:

Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2021.683912

By:

Piani, Maria Chiara;
Maggioni, Eleonora;
Delvecchio, Giuseppe;
Ferro, Adele;
Gritti, Davide;
Pozzoli, Sara M.;
Fontana, Elisa;
Enrico, Paolo;
Cinnante, Claudia M.;
Triulzi, Fabio M.;
Stanley, Jeffrey A.;
Battaglioli, Elena;
Brambilla, Paolo

Publication type:

Article

Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.

Published in:

Frontiers in Neurology, 2024, p. 01, doi. 10.3389/fneur.2023.1281953

By:

Rimoldi, Martina;
Romagnoli, Gloria;
Magri, Francesca;
Antognozzi, Sara;
Cinnante, Claudia;
Saccani, Elena;
Ciscato, Patrizia;
Zanotti, Simona;
Velardo, Daniele;
Corti, Stefania;
Comi, Giacomo Pietro;
Ronchi, Dario

Publication type:

Article

Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.

Published in:

Acta Myologica, 2020, v. 39, n. 2, p. 67

By:

Magri, Francesca;
Brusa, Roberta;
Bello, Luca;
Peverelli, Lorenzo;
Del Bo, Roberto;
Govoni, Alessandra;
Cinnante, Claudia;
Colombo, Irene;
Fortunato, Francesco;
Tironi, Roberto;
Corti, Stefania;
Grimoldi, Nadia;
Sciacco, Monica;
Bresolin, Nereo;
Pegoraro, Elena;
Moggio, Maurizio;
Comi, Giacomo Pietro

Publication type:

Article

Immune-mediated necrotizing myopathy due to statins exposure.

Published in:

Acta Myologica, 2018, v. 37, n. 4, p. 257

By:

VILLA, LUISA;
LERARIO, ALBERTO;
CALLONI, SONIA;
PEVERELLI, LORENZO;
MATINATO, CATERINA;
DE LISO, FEDERICA;
CERIOTTI, FERRUCCIO;
TIRONI, ROBERTO;
SCIACCO, MONICA;
MOGGIO, MAURIZIO;
TRIULZI, FABIO;
CINNANTE, CLAUDIA

Publication type:

Article

Neurodevelopmental outcome at 36 months in very low birth weight premature infants with MR diffuse excessive high signal intensity (DEHSI) of cerebral white matter.

Published in:

La Radiologia Medica, 2015, v. 120, n. 11, p. 1056, doi. 10.1007/s11547-015-0540-2

By:

Calloni, Sonia;
Cinnante, Claudia;
Bassi, Laura;
Avignone, Sabrina;
Fumagalli, Monica;
Bonello, Luke;
Consonni, Dario;
Picciolini, Odoardo;
Mosca, Fabio;
Triulzi, Fabio

Publication type:

Article

Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.

Published in:

2020

By:

Villa, Davide;
Cinnante, Claudia;
Valcamonica, Gloria;
Manenti, Giulia;
Lanfranconi, Silvia;
Colombi, Annalisa;
Ghione, Isabella;
Saetti, Maria Cristina;
D'Amico, Mario;
Bonato, Sara;
Bresolin, Nereo;
Comi, Giacomo Pietro;
Ronchi, Dario

Publication type:

journal article

MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients.

Published in:

Journal of Neurology, 2020, v. 267, n. 4, p. 898, doi. 10.1007/s00415-019-09646-w

By:

Brogna, Claudia;
Cristiano, Lara;
Verdolotti, Tommaso;
Pichiecchio, Anna;
Cinnante, Claudia;
Sansone, Valeria;
Sconfienza, Luca Maria;
Berardinelli, Angela;
Garibaldi, Matteo;
Antonini, Giovanni;
Pane, Marika;
Pera, Maria Carmela;
Antonaci, Laura;
Ficociello, Luana;
Albamonte, Emilio;
Tasca, Giorgio;
Begliuomini, Chiara;
Tartaglione, Tommaso;
Maggi, Lorenzo;
Govoni, Alessandra

Publication type:

Article

Ophthalmoplegia Due to Miller Fisher Syndrome in a Patient With Myasthenia Gravis.

Published in:

Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00823

By:

Brusa, Roberta;
Faravelli, Irene;
Gagliardi, Delia;
Magri, Francesca;
Cogiamanian, Filippo;
Saccomanno, Domenica;
Cinnante, Claudia;
Mauri, Eleonora;
Abati, Elena;
Bresolin, Nereo;
Corti, Stefania;
Comi, Giacomo Pietro

Publication type:

Article

From early stress to 12-month development in very preterm infants: Preliminary findings on epigenetic mechanisms and brain growth.

Published in:

PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0190602

By:

Fumagalli, Monica;
Provenzi, Livio;
De Carli, Pietro;
Dessimone, Francesca;
Sirgiovanni, Ida;
Giorda, Roberto;
Cinnante, Claudia;
Squarcina, Letizia;
Pozzoli, Uberto;
Triulzi, Fabio;
Brambilla, Paolo;
Borgatti, Renato;
Mosca, Fabio;
Montirosso, Rosario

Publication type:

Article

Acute flaccid myelitis associated with enterovirus-D68 infection in an otherwise healthy child.

Published in:

Virology Journal, 2017, v. 14, n. 1, p. 1, doi. 10.1186/s12985-016-0678-0

By:

Esposito, Susanna;
Chidini, Giovanna;
Cinnante, Claudia;
Napolitano, Luisa;
Giannini, Alberto;
Terranova, Leonardo;
Niesters, Hubert;
Principi, Nicola;
Calderini, Edoardo

Publication type:

Article

Suspected fetal brain metallic embolic microfragment detected by MR imaging.

Published in:

2015

By:

Triulzi, Fabio;
Fumagalli, Monica;
Fogliani, Roberto;
Cinnante, Claudia;
Avignone, Sabrina;
Doneda, Chiara;
Boito, Simona;
Mosca, Fabio

Publication type:

Other

Amyotrophic lateral sclerosis with upper motor neuron predominance: diagnostic accuracy of qualitative and quantitative susceptibility metrics in the precentral gyrus.

Published in:

European Radiology, 2023, v. 33, n. 11, p. 7677, doi. 10.1007/s00330-023-10070-y

By:

Lo Russo, Francesco;
Contarino, Valeria Elisa;
Conte, Giorgio;
Morelli, Claudia;
Trogu, Francesca;
Casale, Silvia;
Sbaraini, Sara;
Caschera, Luca;
Genovese, Valentina;
Liu, Chunlei;
Cinnante, Claudia Maria;
Silani, Vincenzo;
Triulzi, Fabio Maria

Publication type:

Article

Amyotrophic lateral sclerosis phenotypes significantly differ in terms of magnetic susceptibility properties of the precentral cortex.

Published in:

European Radiology, 2021, v. 31, n. 7, p. 5272, doi. 10.1007/s00330-020-07547-5

By:

Conte, Giorgio;
Contarino, Valeria Elisa;
Casale, Silvia;
Morelli, Claudia;
Sbaraini, Sara;
Scola, Elisa;
Trogu, Francesca;
Siggillino, Silvia;
Cinnante, Claudia Maria;
Caschera, Luca;
Lo Russo, Francesco Maria;
Triulzi, Fabio Maria;
Silani, Vincenzo

Publication type:

Article

Correction to: A susceptibility-weighted imaging qualitative score of the motor cortex may be a useful tool for distinguishing clinical phenotypes in amyotrophic lateral sclerosis.

Published in:

2021

By:

Conte, Giorgio;
Sbaraini, Sara;
Morelli, Claudia;
Casale, Silvia;
Caschera, Luca;
Contarino, Valeria Elisa;
Scola, Elisa;
Cinnante, Claudia;
Trogu, Francesca;
Triulzi, Fabio;
Silani, Vincenzo

Publication type:

corrected article

A susceptibility-weighted imaging qualitative score of the motor cortex may be a useful tool for distinguishing clinical phenotypes in amyotrophic lateral sclerosis.

Published in:

European Radiology, 2021, v. 31, n. 3, p. 1281, doi. 10.1007/s00330-020-07239-0

By:

Conte, Giorgio;
Sbaraini, Sara;
Morelli, Claudia;
Casale, Silvia;
Caschera, Luca;
Contarino, Valeria Elisa;
Scola, Elisa;
Cinnante, Claudia;
Trogu, Francesca;
Triulzi, Fabio;
Silani, Vincenzo

Publication type:

Article

Prenatal magnetic resonance imaging within the 26th week of gestation may predict the fate of isolated upward rotation of the cerebellar vermis: insights from a multicentre study.

Published in:

2020

By:

Conte, Giorgio;
Caschera, Luca;
Parazzini, Cecilia;
Cinnante, Claudia;
Izzo, Giana;
Talenti, Giacomo;
Severino, Mariasavina;
Ormitti, Francesca;
Palumbo, Giovanni;
Pinelli, Lorenzo;
Antonelli, Amanda;
Manganaro, Lucia;
Boito, Simona;
Rossi, Andrea;
Triulzi, Fabio;
Righini, Andrea

Publication type:

journal article

High resolution post-mortem MRI of non-fixed in situ foetal brain in the second trimester of gestation: Normal foetal brain development.

Published in:

2018

By:

Scola, Elisa;
Conte, Giorgio;
Palumbo, Giovanni;
Avignone, Sabrina;
Cinnante, Claudia Maria;
Boito, Simona;
Persico, Nicola;
Rizzuti, Tommaso;
Triulzi, Fabio

Publication type:

journal article

Progressive motor neuron syndromes with single CNS lesions and CSF oligoclonal bands: never forget solitary sclerosis!

Published in:

Neurological Sciences, 2022, v. 43, n. 12, p. 6951, doi. 10.1007/s10072-022-06407-y

By:

Giacopuzzi Grigoli, Eleonora;
Cinnante, Claudia;
Doneddu, Pietro Emiliano;
Calcagno, Narghes;
Lenti, Sveva;
Ciammola, Andrea;
Maderna, Luca;
Ticozzi, Nicola;
Castellani, Massimo;
Beretta, Sandro;
Rovaris, Marco;
Silani, Vincenzo;
Verde, Federico

Publication type:

Article

Pediatric anti-HMGCR necrotizing myopathy: diagnostic challenges and literature review.

Published in:

2020

By:

Velardo, Daniele;
Faravelli, Irene;
Cinnante, Claudia;
Moggio, Maurizio;
Comi, Giacomo Pietro

Publication type:

Letter

Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 839, doi. 10.1002/acn3.51025

By:

Ronchi, Dario;
Monfrini, Edoardo;
Bonato, Sara;
Mancinelli, Veronica;
Cinnante, Claudia;
Salani, Sabrina;
Bordoni, Andreina;
Ciscato, Patrizia;
Fortunato, Francesco;
Villa, Marianna;
Di Fonzo, Alessio;
Corti, Stefania;
Bresolin, Nereo;
Comi, Giacomo P.

Publication type:

Article

Herpes Simplex virus type 2 myeloradiculitis with a pure motor presentation in a liver transplant recipient.

Published in:

Transplant Infectious Disease, 2020, v. 22, n. 1, p. 1, doi. 10.1111/tid.13236

By:

Abati, Elena;
Gagliardi, Delia;
Velardo, Daniele;
Meneri, Megi;
Conte, Giorgio;
Cinnante, Claudia;
Bresolin, Nereo;
Comi, Giacomo;
Corti, Stefania

Publication type:

Article

Givinostat for Becker muscular dystrophy: A randomized, placebo-controlled, double-blind study.

Published in:

Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1095121

By:

Comi, Giacomo P.;
Niks, Erik H.;
Vandenborne, Krista;
Cinnante, Claudia M.;
Kan, Hermien E.;
Willcocks, Rebecca J.;
Velardo, Daniele;
Magri, Francesca;
Ripolone, Michela;
van Benthem, Jules J.;
van de Velde, Nienke M.;
Nava, Simone;
Ambrosoli, Laura;
Cazzaniga, Sara;
Bettica, Paolo U.

Publication type:

Article

Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.930039

By:

Velardo, Daniele;
D'Angelo, Maria Grazia;
Citterio, Andrea;
Panzeri, Elena;
Napoli, Laura;
Cinnante, Claudia;
Moggio, Maurizio;
Comi, Giacomo Pietro;
Ronchi, Dario;
Bassi, Maria Teresa

Publication type:

Article

Clinical safety of 3-T brain magnetic resonance imaging in newborns.

Published in:

2018

By:

Fumagalli, Monica;
Cinnante, Claudia Maria;
Calloni, Sonia Francesca;
Sorrentino, Gabriele;
Gorla, Ilaria;
Plevani, Laura;
Pesenti, Nicola;
Sirgiovanni, Ida;
Mosca, Fabio;
Triulzi, Fabio

Publication type:

journal article

Characterization of patients with Becker muscular dystrophy by histology, magnetic resonance imaging, function, and strength assessments.

Published in:

Muscle & Nerve, 2022, v. 65, n. 3, p. 326, doi. 10.1002/mus.27475

By:

Comi, Giacomo P.;
Niks, Erik H.;
Cinnante, Claudia M.;
Kan, Hermien E.;
Vandenborne, Krista;
Willcocks, Rebecca J.;
Velardo, Daniele;
Ripolone, Michela;
van Benthem, Jules J.;
van de Velde, Nienke M.;
Nava, Simone;
Ambrosoli, Laura;
Cazzaniga, Sara;
Bettica, Paolo U.

Publication type:

Article

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.

Published in:

2017

By:

Pichiecchio, Anna;
Rossi, Marta;
Cinnante, Claudia;
Colafati, Giovanna Stefania;
Icco, Roberto;
Parini, Rossella;
Menni, Francesca;
Furlan, Francesca;
Burlina, Alberto;
Sacchini, Michele;
Donati, Maria Alice;
Fecarotta, Simona;
Casa, Roberto Della;
Deodato, Federica;
Taurisano, Roberta;
Rocco, Maja;
De Icco, Roberto;
Di Rocco, Maja

Publication type:

journal article

Diffusion tensor imaging reveals subclinical alterations in muscles of patients with Becker muscular dystrophy.

Published in:

British Journal of Radiology, 2024, v. 97, n. 1157, p. 947, doi. 10.1093/bjr/tqae070

By:

Nava, Simone;
Conte, Giorgio;
Triulzi, Fabio M;
Comi, Giacomo P;
Magri, Francesca;
Velardo, Daniele;
Cinnante, Claudia M

Publication type:

Article

Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 7, p. 927, doi. 10.1002/pd.6171

By:

Rinaldi, Berardo;
Cesaretti, Claudia;
Boito, Simona;
Villa, Roberta;
Guerneri, Silvana;
Borzani, Irene;
Rizzuti, Tommaso;
Marchetti, Daniela;
Conte, Giorgio;
Cinnante, Claudia;
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Persico, Nicola;
Iascone, Maria;
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Article

Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2808, doi. 10.1002/ajmg.a.40503

By:

De Vita, Dalila;
Mei, Davide;
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Cinnante, Claudia Maria;
Parrini, Elena;
Dilena, Robertino;
Guerrini, Renzo

Publication type:

Article

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

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American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1427, doi. 10.1002/ajmg.a.38704

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Paganini, Leda;
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Milani, Donatella;
Fontana, Laura;
Motta, Silvia;
Sirchia, Silvia Maria;
Scuvera, Giulietta;
Marchisio, Paola;
Esposito, Susanna;
Cinnante, Claudia Maria;
Tabano, Silvia Maria;
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Publication type:

Article

Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant.

Published in:

Functional Neurology, 2012, v. 27, n. 4, p. 247

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Bersano, Anna;
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Ciammola, Andrea;
Cinnante, Claudia;
Lanfranconi, Silvia;
Dotti, Maria Teresa;
Candelise, Livia;
Baschirotto, Cinzia;
Ghione, Isabella;
Ballabio, Elena;
Bresolin, Nereo;
Bassi, Maria Teresa

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QSM-detected iron accumulation in the cerebellar gray matter is selectively associated with executive dysfunction in non-demented ALS patients.

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Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1426841

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Aiello, Edoardo Nicolò;
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Conte, Giorgio;
Solca, Federica;
Curti, Beatrice;
Maranzano, Alessio;
Torre, Silvia;
Casale, Silvia;
Doretti, Alberto;
Colombo, Eleonora;
Verde, Federico;
Silani, Vincenzo;
Chunlei Liu;
Cinnante, Claudia;
Triulzi, Fabio Maria;
Morelli, Claudia;
Poletti, Barbara;
Ticozzi, Nicola

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A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-0806-8

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Bedeschi, Maria Francesca;
Crippa, Beatrice Letizia;
Colombo, Lorenzo;
Buscemi, Martina;
Rossi, Cesare;
Villa, Roberta;
Gangi, Silvana;
Picciolini, Odoardo;
Cinnante, Claudia;
Fergnani, Viola Giulia Carlina;
Ajmone, Paola Francesca;
Scola, Elisa;
Triulzi, Fabio;
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Publication type:

Article