Works by Giunti, Paola

Results: 115
    1

    The organizational dimension in rare and complex diseases care management: an application of RarERN Path<sup>©</sup> methodology in ataxias, dystonia and phenylketonuria.

    Published in:
    BMC Health Services Research, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12913-025-12784-9
    By:
    • Cannizzo, Sara;
    • Quoidbach, Vinciane;
    • Trieste, Leopoldo;
    • Benson, Monika;
    • Federico, Antonio;
    • Filla, Alessandro;
    • Gilroy, Bernadette Sheehan;
    • Giunti, Paola;
    • Graeßner, Holm;
    • Greenfield, Julie;
    • Hagedorn, Tobias;
    • Hermida, Alvaro;
    • Hunt, Barry;
    • MacDonald, Anita;
    • Morgante, Francesca;
    • Oertel, Wolfgang;
    • Pastores, Gregory;
    • Pauly, Martje G.;
    • Reinhard, Carola;
    • Relja, Maja
    Publication type:
    Article
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    Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 1, p. 4, doi. 10.1002/acn3.51897
    By:
    • Lynch, David R.;
    • Goldsberry, Angie;
    • Rummey, Christian;
    • Farmer, Jennifer;
    • Boesch, Sylvia;
    • Delatycki, Martin B.;
    • Giunti, Paola;
    • Hoyle, J. Chad;
    • Mariotti, Caterina;
    • Mathews, Katherine D.;
    • Nachbauer, Wolfgang;
    • Perlman, Susan;
    • Subramony, S.H.;
    • Wilmot, George;
    • Zesiewicz, Theresa;
    • Weissfeld, Lisa;
    • Meyer, Colin
    Publication type:
    Article
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    Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.

    Published in:
    Annals of Clinical & Translational Neurology, 2023, v. 10, n. 11, p. 2000, doi. 10.1002/acn3.51886
    By:
    • Porcu, Luca;
    • Fichera, Mario;
    • Nanetti, Lorenzo;
    • Rulli, Eliana;
    • Giunti, Paola;
    • Parkinson, Michael H.;
    • Durr, Alexandra;
    • Ewenczyk, Claire;
    • Boesch, Sylvia;
    • Nachbauer, Wolfgang;
    • Indelicato, Elisabetta;
    • Klopstock, Thomas;
    • Stendel, Claudia;
    • Rodríguez de Rivera, Francisco Javier;
    • Schöls, Ludger;
    • Fleszar, Zofia;
    • Giordano, Ilaria;
    • Didszun, Claire;
    • Castaldo, Anna;
    • Rai, Myriam
    Publication type:
    Article
    7

    Lower urinary tract and bowel dysfunction in spinocerebellar ataxias.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 2, p. 321, doi. 10.1002/acn3.51266
    By:
    • Afonso Ribeiro, Joana;
    • Simeoni, Sara;
    • De Min, Lorenzo;
    • Uchiyama, Tomoyuki;
    • Tung Lo, Yu;
    • Solanky, Nita;
    • Garcia‐Moreno, Hector;
    • Giunti, Paola;
    • Panicker, Jalesh N.
    Publication type:
    Article
    8

    Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 15, doi. 10.1002/acn3.660
    By:
    • Lynch, David R.;
    • Farmer, Jennifer;
    • Hauser, Lauren;
    • Blair, Ian A.;
    • Wang, Qing Qing;
    • Mesaros, Clementina;
    • Snyder, Nathaniel;
    • Boesch, Sylvia;
    • Chin, Melanie;
    • Delatycki, Martin B.;
    • Giunti, Paola;
    • Goldsberry, Angela;
    • Hoyle, Chad;
    • McBride, Michael G.;
    • Nachbauer, Wolfgang;
    • O'Grady, Megan;
    • Perlman, Susan;
    • Subramony, S. H.;
    • Wilmot, George R.;
    • Zesiewicz, Theresa
    Publication type:
    Article
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    Depression comorbidity in spinocerebellar ataxia.

    Published in:
    Movement Disorders, 2011, v. 26, n. 5, p. 870, doi. 10.1002/mds.23698
    By:
    • Schmitz-Hübsch, Tanja;
    • Coudert, Mathieu;
    • Tezenas du Montcel, Sophie;
    • Giunti, Paola;
    • Labrum, Robyn;
    • Dürr, Alexandra;
    • Ribai, Pascale;
    • Charles, Perrine;
    • Linnemann, Christoph;
    • Schöls, Ludger;
    • Rakowicz, Maryla;
    • Rola, Rafal;
    • Zdzienicka, Elszbieta;
    • Fancellu, Roberto;
    • Mariotti, Caterina;
    • Baliko, Lazlo;
    • Melegh, Bela;
    • Filla, Alessandro;
    • Salvatore, Elena;
    • van de Warrenburg, Bart P.C.
    Publication type:
    Article
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    Self-rated health status in spinocerebellar ataxia-Results from a European multicenter study.

    Published in:
    Movement Disorders, 2010, v. 25, n. 5, p. 587, doi. 10.1002/mds.22740
    By:
    • Schmitz-Hübsch, Tanja;
    • Coudert, Mathieu;
    • Giunti, Paola;
    • Globas, Christoph;
    • Baliko, Laszlo;
    • Fancellu, Roberto;
    • Mariotti, Caterina;
    • Filla, Alessandro;
    • Rakowicz, Maryla;
    • Charles, Perrine;
    • Ribai, Pascale;
    • Szymanski, Sandra;
    • Infante, Jon;
    • van de Warrenburg, Bart P.C.;
    • Dürr, Alexandra;
    • Timmann, Dagmar;
    • Boesch, Sylvia;
    • Rola, Rafal;
    • Depondt, Chantal;
    • Schöls, Ludger
    Publication type:
    Article
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    Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients.

    Published in:
    Movement Disorders, 2006, v. 21, n. 5, p. 699, doi. 10.1002/mds.20781
    By:
    • Schmitz-Hübsch, Tanja;
    • Tezenas du Montcel, Sophie;
    • Baliko, Laszlo;
    • Boesch, Sylvia;
    • Bonato, Sara;
    • Fancellu, Roberto;
    • Giunti, Paola;
    • Globas, Christoph;
    • Kang, Jun-Suk;
    • Kremer, Berry;
    • Mariotti, Caterina;
    • Melegh, Bela;
    • Rakowicz, Maryla;
    • Rola, Rafal;
    • Romano, Sylvie;
    • Schöls, Lodger;
    • Szymanski, Sandra;
    • van de Warrenburg, Bart P.C.;
    • Zdzienicka, Elzbieta;
    • Dürr, Alexandra
    Publication type:
    Article
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    A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.

    Published in:
    Neuropathology & Applied Neurobiology, 2023, v. 49, n. 2, p. 1, doi. 10.1111/nan.12892
    By:
    • Santana, Magda M.;
    • Gaspar, Laetitia S.;
    • Pinto, Maria M.;
    • Silva, Patrick;
    • Adão, Diana;
    • Pereira, Dina;
    • Afonso Ribeiro, Joana;
    • Cunha, Inês;
    • Huebener-Schmid, Jeannette;
    • Raposo, Mafalda;
    • Ferreira, Ana F.;
    • Faber, Jennifer;
    • Kuhs, Sandra;
    • Garcia-Moreno, Hector;
    • Reetz, Kathrin;
    • Thieme, Andreas;
    • Infante, Jon;
    • van de Warrenburg, Bart P. C.;
    • Giunti, Paola;
    • Riess, Olaf
    Publication type:
    Article
    25

    A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.

    Published in:
    Neuropathology & Applied Neurobiology, 2023, v. 49, n. 1, p. 1, doi. 10.1111/nan.12892
    By:
    • Santana, Magda M.;
    • Gaspar, Laetitia S.;
    • Pinto, Maria M.;
    • Silva, Patrick;
    • Adão, Diana;
    • Pereira, Dina;
    • Ribeiro, Joana Afonso;
    • Cunha, Inês;
    • Huebener‐Schmid, Jeannette;
    • Raposo, Mafalda;
    • Ferreira, Ana F.;
    • Faber, Jennifer;
    • Kuhs, Sandra;
    • Garcia‐Moreno, Hector;
    • Reetz, Kathrin;
    • Thieme, Andreas;
    • Infante, Jon;
    • van de Warrenburg, Bart P. C.;
    • Giunti, Paola;
    • Riess, Olaf
    Publication type:
    Article
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    Correction: Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration.

    Published in:
    2024
    By:
    • Ferreira, Mónica;
    • Schaprian, Tamara;
    • Kügler, David;
    • Reuter, Martin;
    • Deike-Hoffmann, Katharina;
    • Timmann, Dagmar;
    • Ernst, Thomas M.;
    • Giunti, Paola;
    • Garcia-Moreno, Hector;
    • van de Warrenburg, Bart;
    • van Gaalen, Judith;
    • de Vries, Jeroen;
    • Jacobi, Heike;
    • Steiner, Katharina Marie;
    • Öz, Gülin;
    • Joers, James M.;
    • Onyike, Chiadi;
    • Povazan, Michal;
    • Reetz, Kathrin;
    • Romanzetti, Sandro
    Publication type:
    Correction Notice
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    Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration.

    Published in:
    Cerebellum, 2024, v. 23, n. 4, p. 1521, doi. 10.1007/s12311-024-01659-0
    By:
    • Ferreira, Mónica;
    • Schaprian, Tamara;
    • Kügler, David;
    • Reuter, Martin;
    • Deike-Hoffmann, Katharina;
    • Timmann, Dagmar;
    • Ernst, Thomas M.;
    • Giunti, Paola;
    • Garcia-Moreno, Hector;
    • van de Warrenburg, Bart;
    • van Gaalen, Judith;
    • de Vries, Jeroen;
    • Jacobi, Heike;
    • Steiner, Katharina Marie;
    • Öz, Gülin;
    • Joers, James M.;
    • Onyike, Chiadi;
    • Povazan, Michal;
    • Reetz, Kathrin;
    • Romanzetti, Sandro
    Publication type:
    Article
    29

    Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia.

    Published in:
    Cerebellum, 2024, v. 23, n. 4, p. 1466, doi. 10.1007/s12311-024-01657-2
    By:
    • Weber, Niklas;
    • Buchholz, Maresa;
    • Rädke, Anika;
    • Faber, Jennifer;
    • Schmitz-Hübsch, Tanja;
    • Jacobi, Heike;
    • Klockgether, Thomas;
    • Hoffmann, Wolfgang;
    • Michalowsky, Bernhard;
    • du Montcel, Sophie Tezenas;
    • Bauer, Peter;
    • Giunti, Paola;
    • Cook, Arron;
    • Labrum, Robyn;
    • Parkinson, Michael H.;
    • Durr, Alexandra;
    • Brice, Alexis;
    • Charles, Perrine;
    • Marelli, Cecilia;
    • Mariotti, Caterina
    Publication type:
    Article
    30

    Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L.

    Published in:
    Cerebellum, 2024, v. 23, n. 3, p. 1020, doi. 10.1007/s12311-023-01597-3
    By:
    • Buchholz, Maresa;
    • Weber, Niklas;
    • Rädke, Anika;
    • Faber, Jennifer;
    • Schmitz-Hübsch, Tanja;
    • Jacobi, Heike;
    • Xie, Feng;
    • Klockgether, Thomas;
    • Michalowsky, Bernhard;
    • du Montcel, Sophie Tezenas;
    • Bauer, Peter;
    • Giunti, Paola;
    • Cook, Arron;
    • Labrum, Robyn;
    • Parkinson, Michael H.;
    • Durr, Alexandra;
    • Brice, Alexis;
    • Charles, Perrine;
    • Marelli, Cecilia;
    • Mariotti, Caterina
    Publication type:
    Article
    31

    SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.

    Published in:
    Cerebellum, 2024, v. 23, n. 3, p. 887, doi. 10.1007/s12311-023-01546-0
    By:
    • Uebachs, Mischa;
    • Wegner, Philipp;
    • Schaaf, Sebastian;
    • Kugai, Simon;
    • Jacobi, Heike;
    • Kuo, Sheng-Han;
    • Ashizawa, Tetsuo;
    • Fluck, Juliane;
    • du Montcel, Sophie Tezenas;
    • Bauer, Peter;
    • Giunti, Paola;
    • Cook, Arron;
    • Labrum, Robyn;
    • Parkinson, Michael H.;
    • Durr, Alexandra;
    • Brice, Alexis;
    • Charles, Perrine;
    • Marelli, Cecilia;
    • Mariotti, Caterina;
    • Nanetti, Lorenzo
    Publication type:
    Article
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    Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings.

    Published in:
    Cerebellum, 2012, v. 11, n. 1, p. 155, doi. 10.1007/s12311-011-0292-z
    By:
    • Jacobi, Heike;
    • Hauser, Till-Karsten;
    • Giunti, Paola;
    • Globas, Christoph;
    • Bauer, Peter;
    • Schmitz-Hübsch, Tanja;
    • Baliko, László;
    • Filla, Alessandro;
    • Mariotti, Caterina;
    • Rakowicz, Maria;
    • Charles, Perine;
    • Ribai, Pascale;
    • Szymanski, Sandra;
    • Infante, Jon;
    • Warrenburg, Bart;
    • Dürr, Alexandra;
    • Timmann, Dagmar;
    • Boesch, Sylvia;
    • Fancellu, Roberto;
    • Rola, Rafal
    Publication type:
    Article
    35

    Falls in Spinocerebellar Ataxias: Results of the EuroSCA Fall Study.

    Published in:
    Cerebellum, 2010, v. 9, n. 2, p. 232, doi. 10.1007/s12311-010-0155-z
    By:
    • Fonteyn, Ella M. R.;
    • Schmitz-Hübsch, Tanja;
    • Verstappen, Carla C.;
    • Baliko, Laslo;
    • Bloem, Bastiaan R.;
    • Boesch, Silvia;
    • Bunn, Lisa;
    • Charles, Perrine;
    • Dürr, Alexandra;
    • Filla, Allesandro;
    • Giunti, Paola;
    • Globas, Christoph;
    • Klockgether, Thomas;
    • Melegh, Bela;
    • Pandolfo, Massimo;
    • Rosa, Anna De;
    • Schöls, Ludger;
    • Timmann, Dagmar;
    • Munneke, Marten;
    • Kremer, Berry P. H.
    Publication type:
    Article
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    Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 16, p. 3130, doi. 10.1093/hmg/ddx197
    By:
    • Duncan, Emma J.;
    • Larivière, Roxanne;
    • Bradshaw, Teisha Y.;
    • Longo, Fabiana;
    • Sgarioto, Nicolas;
    • Hayes, Matthew J.;
    • Romano, Lisa E. L.;
    • Nethisinghe, Suran;
    • Giunti, Paola;
    • Bruntraeger, Michaela B.;
    • Durham, Heather D.;
    • Brais, Bernard;
    • Maltecca, Francesca;
    • Gentil, Benoit J.;
    • Chapple, J. Paul
    Publication type:
    Article
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    De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 11, p. 3681, doi. 10.1093/brain/awae193
    By:
    • Benkirane, Mehdi;
    • Bonhomme, Marion;
    • Morsy, Heba;
    • Safgren, Stephanie L;
    • Marelli, Cecilia;
    • Chaussenot, Annabelle;
    • Smedley, Damian;
    • Cipriani, Valentina;
    • Sainte-Agathe, Jean-Madeleine de;
    • Ding, Can;
    • Larrieu, Lise;
    • Vestito, Letizia;
    • Margot, Henri;
    • Lesca, Gaetan;
    • Ramond, Francis;
    • Castrioto, Anna;
    • Baux, David;
    • Verheijen, Jan;
    • Sansa, Emna;
    • Giunti, Paola
    Publication type:
    Article
    45

    Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5044, doi. 10.1093/brain/awad266
    By:
    • Garcia-Moreno, Hector;
    • Langbehn, Douglas R;
    • Abiona, Adesoji;
    • Garrood, Isabel;
    • Fleszar, Zofia;
    • Manes, Marta Antonia;
    • Morley, Ana M Susana;
    • Craythorne, Emma;
    • Mohammed, Shehla;
    • Henshaw, Tanya;
    • Turner, Sally;
    • Naik, Harsha;
    • Bodi, Istvan;
    • Sarkany, Robert P E;
    • Fassihi, Hiva;
    • Lehmann, Alan R;
    • Giunti, Paola
    Publication type:
    Article
    46

    Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4132, doi. 10.1093/brain/awad128
    By:
    • Raposo, Mafalda;
    • Hübener-Schmid, Jeannette;
    • Ferreira, Ana F;
    • Melo, Ana Rosa Vieira;
    • Vasconcelos, João;
    • Pires, Paula;
    • Kay, Teresa;
    • Garcia-Moreno, Hector;
    • Giunti, Paola;
    • Santana, Magda M;
    • Almeida, Luis Pereira de;
    • Infante, Jon;
    • Warrenburg, Bart P van de;
    • Vries, Jeroen J de;
    • Faber, Jennifer;
    • Klockgether, Thomas;
    • Casadei, Nicolas;
    • Admard, Jakob;
    • Schöls, Ludger;
    • group, European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study
    Publication type:
    Article
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    Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. 2444, doi. 10.1093/brain/awu174
    By:
    • Tezenas du Montcel, Sophie;
    • Durr, Alexandra;
    • Bauer, Peter;
    • Figueroa, Karla P.;
    • Ichikawa, Yaeko;
    • Brussino, Alessandro;
    • Forlani, Sylvie;
    • Rakowicz, Maria;
    • Schöls, Ludger;
    • Mariotti, Caterina;
    • van de Warrenburg, Bart P.C.;
    • Orsi, Laura;
    • Giunti, Paola;
    • Filla, Alessandro;
    • Szymanski, Sandra;
    • Klockgether, Thomas;
    • Berciano, José;
    • Pandolfo, Massimo;
    • Boesch, Sylvia;
    • Melegh, Bela
    Publication type:
    Article