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Two RFC1 splicing variants in CANVAS.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. e14, doi. 10.1093/brain/awac466
By:
- Weber, Sacha;
- Coarelli, Giulia;
- Heinzmann, Anna;
- Monin, Marie-Lorraine;
- Richard, Nicolas;
- Gerard, Marion;
- Durr, Alexandra;
- Huin, Vincent
Publication type:
Article
Motor neuron pathology in CANVAS due to RFC1 expansions.
Published in:
2022
By:
- Huin, Vincent;
- Coarelli, Giulia;
- Guemy, Clément;
- Boluda, Susana;
- Debs, Rabab;
- Mochel, Fanny;
- Stojkovic, Tanya;
- Grabli, David;
- Maisonobe, Thierry;
- Gaymard, Bertrand;
- Lenglet, Timothée;
- Tard, Céline;
- Davion, Jean Baptiste;
- Sablonnière, Bernard;
- Monin, Marie Lorraine;
- Ewenczyk, Claire;
- Viala, Karine;
- Charles, Perrine;
- Ber, Isabelle Le;
- Reilly, Mary M
Publication type:
journal article
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Published in:
Brain: A Journal of Neurology, 2022, v. 145, n. 3, p. 1029, doi. 10.1093/brain/awab386
By:
- Méreaux, Jean-Loup;
- Banneau, Guillaume;
- Papin, Mélanie;
- Coarelli, Giulia;
- Valter, Rémi;
- Raymond, Laure;
- Kol, Bophara;
- Ariste, Olivier;
- Parodi, Livia;
- Tissier, Laurène;
- Mairey, Mathilde;
- Said, Samia Ait;
- Gautier, Celia;
- Guillaud-Bataille, Marine;
- network, the French SPATAX clinical;
- Forlani, Sylvie;
- de la Grange, Pierre;
- Brice, Alexis;
- Vazza, Giovanni;
- Durr, Alexandra
Publication type:
Article
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
Published in:
2021
By:
- Rebelo, Adriana P;
- Eidhof, Ilse;
- Cintra, Vivian P;
- Guillot-Noel, Léna;
- Pereira, Claudia V;
- Timmann, Dagmar;
- Traschütz, Andreas;
- Schöls, Ludger;
- Coarelli, Giulia;
- Durr, Alexandra;
- Anheim, Mathieu;
- Tranchant, Christine;
- van de Warrenburg, Bart;
- Guissart, Claire;
- Koenig, Michel;
- Howell, Jack;
- Moraes, Carlos T;
- Schenck, Annette;
- Stevanin, Giovanni;
- Züchner, Stephan
Publication type:
journal article
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Published in:
2017
By:
- Coutelier, Marie;
- Coarelli, Giulia;
- Monin, Marie-Lorraine;
- Konop, Juliette;
- Davoine, Claire-Sophie;
- Tesson, Christelle;
- Valter, Rémi;
- Anheim, Mathieu;
- Behin, Anthony;
- Castelnovo, Giovanni;
- Charles, Perrine;
- David, Albert;
- Ewenczyk, Claire;
- Fradin, Mélanie;
- Goizet, Cyril;
- Hannequin, Didier;
- Labauge, Pierre;
- Riant, Florence;
- Sarda, Pierre;
- Sznajer, Yves
Publication type:
journal 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
Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers.
Published in:
Cerebellum, 2024, v. 23, n. 3, p. 896, doi. 10.1007/s12311-023-01559-9
By:
- Garces, Pilar;
- Antoniades, Chrystalina A.;
- Sobanska, Anna;
- Kovacs, Norbert;
- Ying, Sarah H.;
- Gupta, Anoopum S.;
- Perlman, Susan;
- Szmulewicz, David J.;
- Pane, Chiara;
- Németh, Andrea H.;
- Jardim, Laura B.;
- Coarelli, Giulia;
- Dankova, Michaela;
- Traschütz, Andreas;
- Tarnutzer, Alexander A.
Publication type:
Article
Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.
Published in:
Cerebellum, 2024, v. 23, n. 1, p. 121, doi. 10.1007/s12311-023-01514-8
By:
- Garces, Pilar;
- Antoniades, Chrystalina A.;
- Sobanska, Anna;
- Kovacs, Norbert;
- Ying, Sarah H.;
- Gupta, Anoopum S.;
- Perlman, Susan;
- Szmulewicz, David J.;
- Pane, Chiara;
- Németh, Andrea H.;
- Jardim, Laura B.;
- Coarelli, Giulia;
- Dankova, Michaela;
- Traschütz, Andreas;
- Tarnutzer, Alexander A.
Publication type:
Article
Screening for neurotropic viruses in cerebrospinal fluid of patients with multiple sclerosis and other neurological diseases.
Published in:
2014
By:
- Mechelli, Rosella;
- Vittori, Danila;
- Coarelli, Giulia;
- Aimati, Laura;
- De Luca, Ottavia;
- Romano, Silvia;
- Ricigliano, Vito A.G.;
- Annibali, Viviana;
- Policano, Claudia;
- Mattei, Carlo;
- Salvetti, Marco;
- Ristori, Giovanni
Publication type:
Letter to the Editor
Methylation-dependent PAD2 upregulation in multiple sclerosis peripheral blood.
Published in:
Multiple Sclerosis Journal, 2012, v. 18, n. 3, p. 299, doi. 10.1177/1352458511421055
By:
- Calabrese, Roberta;
- Zampieri, Michele;
- Mechelli, Rosella;
- Annibali, Viviana;
- Guastafierro, Tiziana;
- Ciccarone, Fabio;
- Coarelli, Giulia;
- Umeton, Renato;
- Salvetti, Marco;
- Caiafa, Paola
Publication type:
Article
A “Candidate-Interactome” Aggregate Analysis of Genome-Wide Association Data in Multiple Sclerosis
Published in:
PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063300
By:
- Mechelli, Rosella;
- Umeton, Renato;
- Policano, Claudia;
- Annibali, Viviana;
- Coarelli, Giulia;
- Ricigliano, Vito A. G.;
- Vittori, Danila;
- Fornasiero, Arianna;
- Buscarinu, Maria Chiara;
- Romano, Silvia;
- Salvetti, Marco;
- Ristori, Giovanni
Publication type:
Article
Assessing cognitive function in patients treated with immune checkpoint inhibitors: A feasibility study.
Published in:
2018
By:
- Cuzzubbo, Stefania;
- Belin, Catherine;
- Chouahnia, Kader;
- Baroudjian, Barouyr;
- Duchemann, Boris;
- Barlog, Ciprian;
- Coarelli, Giulia;
- Ursu, Renata;
- Poirier, Elodie;
- Lebbe, Celeste;
- Carpentier, Antoine F.
Publication type:
journal article
ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study.
Published in:
JAMA Ophthalmology, 2024, v. 142, n. 4, p. 301, doi. 10.1001/jamaophthalmol.2024.0001
By:
- Nassisi, Marco;
- Coarelli, Giulia;
- Blanchard, Benoit;
- Dubec-Fleury, Charlotte;
- Drine, Karima;
- Kitic, Nicolas;
- Sancho, Serge;
- Hilab, Rania;
- Tezenas du Montcel, Sophie;
- Junge, Candice;
- Lane, Roger;
- Arnold, H. Moore;
- Durr, Alexandra;
- Audo, Isabelle
Publication type:
Article
Motor neuron involvement threatens survival in spinocerebellar ataxia type 1.
Published in:
Neuropathology & Applied Neurobiology, 2023, v. 49, n. 2, p. 1, doi. 10.1111/nan.12897
By:
- Coarelli, Giulia;
- Tchikviladzé, Maya;
- Dodet, Pauline;
- Arnulf, Isabelle;
- Charles, Perrine;
- Tankeré, Frederic;
- Similowski, Thomas;
- Seilhean, Danielle;
- Brice, Alexis;
- Duyckaerts, Charles;
- Durr, Alexandra
Publication type:
Article
Motor neuron involvement threatens survival in spinocerebellar ataxia type 1.
Published in:
Neuropathology & Applied Neurobiology, 2023, v. 49, n. 1, p. 1, doi. 10.1111/nan.12897
By:
- Coarelli, Giulia;
- Tchikviladzé, Maya;
- Dodet, Pauline;
- Arnulf, Isabelle;
- Charles, Perrine;
- Tankeré, Frederic;
- Similowski, Thomas;
- Seilhean, Danielle;
- Brice, Alexis;
- Duyckaerts, Charles;
- Durr, Alexandra
Publication type:
Article
Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 4, p. 706, doi. 10.1007/s10875-023-01438-2
By:
- Crow, Yanick J.;
- Gonzalez-Granado, Luis I;
- Coarelli, Giulia;
- Pierron, Lucie;
- Maystadt, Isabelle;
- Wagner, Matias;
- Zamani, Mina;
- Sadeghian, Saeid;
- David, Clémence;
- Rice, Gillian I
Publication type:
Article
SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
Published in:
Journal of Neurology, 2024, v. 271, n. 7, p. 3743, doi. 10.1007/s00415-024-12475-1
By:
- Petit, Emilien;
- Schmitz-Hübsch, Tanja;
- Coarelli, Giulia;
- Jacobi, Heike;
- Heinzmann, Anna;
- Figueroa, Karla P.;
- Perlman, Susan L.;
- Gomez, Christopher M.;
- Wilmot, George R.;
- Schmahmann, Jeremy D.;
- Ying, Sarah H.;
- Zesiewicz, Theresa A.;
- Paulson, Henry L.;
- Shakkottai, Vikram G.;
- Bushara, Khalaf O.;
- Kuo, Sheng-Han;
- Geschwind, Michael D.;
- Xia, Guangbin;
- Pulst, Stefan M.;
- Subramony, S. H.
Publication type:
Article
The inherited cerebellar ataxias: an update.
Published in:
Journal of Neurology, 2023, v. 270, n. 1, p. 208, doi. 10.1007/s00415-022-11383-6
By:
- Coarelli, Giulia;
- Wirth, Thomas;
- Tranchant, Christine;
- Koenig, Michel;
- Durr, Alexandra;
- Anheim, Mathieu
Publication type:
Article
Digital Gait Measures Capture 1‐Year Progression in Early‐Stage Spinocerebellar Ataxia Type 2.
Published in:
Movement Disorders, 2024, v. 39, n. 5, p. 788, doi. 10.1002/mds.29757
By:
- Seemann, Jens;
- Daghsen, Lina;
- Cazier, Matthieu;
- Lamy, Jean‐Charles;
- Welter, Marie‐Laure;
- Giese, Martin A.;
- Synofzik, Matthis;
- Durr, Alexandra;
- Ilg, Winfried;
- Coarelli, Giulia
Publication type:
Article
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Published in:
Movement Disorders, 2022, v. 37, n. 6, p. 1175, doi. 10.1002/mds.28959
By:
- Van de Vondel, Liedewei;
- De Winter, Jonathan;
- Beijer, Danique;
- Coarelli, Giulia;
- Wayand, Melanie;
- Palvadeau, Robin;
- Pauly, Martje G.;
- Klein, Katrin;
- Rautenberg, Maren;
- Guillot‐Noël, Léna;
- Deconinck, Tine;
- Vural, Atay;
- Ertan, Sibel;
- Dogu, Okan;
- Uysal, Hilmi;
- Brankovic, Vesna;
- Herzog, Rebecca;
- Brice, Alexis;
- Durr, Alexandra;
- Klebe, Stephan
Publication type:
Article
Evidence for Detrimental Cross Interactions between Reactive Oxygen and Nitrogen Species in Leber’s Hereditary Optic Neuropathy Cells.
Published in:
Oxidative Medicine & Cellular Longevity, 2015, v. 2015, p. 1, doi. 10.1155/2016/3187560
By:
- Falabella, Micol;
- Forte, Elena;
- Magnifico, Maria Chiara;
- Santini, Paolo;
- Arese, Marzia;
- Giuffrè, Alessandro;
- Radić, Kristina;
- Chessa, Luciana;
- Coarelli, Giulia;
- Buscarinu, Maria Chiara;
- Mechelli, Rosella;
- Salvetti, Marco;
- Sarti, Paolo
Publication type:
Article
Inflammation and acute cardiotoxicity in adult hematological patients treated with CAR-T cells: results from a pilot proof-of-concept study.
Published in:
Cardio-Oncology, 2024, v. 10, n. 1, p. 1, doi. 10.1186/s40959-024-00218-0
By:
- Camilli, Massimiliano;
- Viscovo, Marcello;
- Felici, Tamara;
- Maggio, Luca;
- Ballacci, Federico;
- Carella, Giacomo;
- Bonanni, Alice;
- Lamendola, Priscilla;
- Tinti, Lorenzo;
- Di Renzo, Antonio;
- Coarelli, Giulia;
- Galli, Eugenio;
- Liuzzo, Giovanna;
- Burzotta, Francesco;
- Montone, Rocco Antonio;
- Sorà, Federica;
- Sica, Simona;
- Hohaus, Stefan;
- Lanza, Gaetano Antonio;
- Crea, Filippo
Publication type:
Article
Inflammation and acute cardiotoxicity in adult hematological patients treated with CAR-T cells: results from a pilot proof-of-concept study.
Published in:
Cardio-Oncology, 2024, v. 10, n. 1, p. 1, doi. 10.1186/s40959-024-00218-0
By:
- Camilli, Massimiliano;
- Viscovo, Marcello;
- Felici, Tamara;
- Maggio, Luca;
- Ballacci, Federico;
- Carella, Giacomo;
- Bonanni, Alice;
- Lamendola, Priscilla;
- Tinti, Lorenzo;
- Di Renzo, Antonio;
- Coarelli, Giulia;
- Galli, Eugenio;
- Liuzzo, Giovanna;
- Burzotta, Francesco;
- Montone, Rocco Antonio;
- Sorà, Federica;
- Sica, Simona;
- Hohaus, Stefan;
- Lanza, Gaetano Antonio;
- Crea, Filippo
Publication type:
Article
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Published in:
Neurogenetics, 2021, v. 22, n. 1, p. 71, doi. 10.1007/s10048-020-00633-2
By:
- Méreaux, Jean-Loup;
- Firanescu, Cristina;
- Coarelli, Giulia;
- Kvarnung, Malin;
- Rodrigues, Rita;
- Pegoraro, Elena;
- Tazir, Meriem;
- Taithe, Frédéric;
- Valter, Rémi;
- Huin, Vincent;
- Lidström, Kristina;
- Banneau, Guillaume;
- Morais, Sara;
- Parodi, Livia;
- Coutelier, Marie;
- Papin, Mélanie;
- Svenningsson, Per;
- Azulay, Jean-Philippe;
- Alonso, Isabel;
- Nilsson, Daniel
Publication type:
Article

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