Paola Giunti

ResearcherID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 25

Top Venues

Brain : a journal of neurology

Orphanet journal of rare diseases

medRxiv : the preprint server for health sciences

Antioxidants (Basel, Switzerland)

Sapienza Università di Roma (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

Sapienza Università di Roma Oct 01 1989 - Jun 05 1992

Italy

PHD :: Institute of Mental and Neurological Diseases

Publications

Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández-Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard H Roxburgh, null null, Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo Lòpez de Munaìn, Fiore Manganelli, Marina Kennerson, Filippo Maria Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferran Prados Carrasco, Tarek Yousry, Vikram Khurana, Sheng-Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette Hartmann, Nazli Basak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M Reilly, Henry Houlden, Andreas Cortese
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain : a journal of neurology 147 (5) (2024)
Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández-Eulate, Benjamin Bender, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard H Roxburgh, null null, Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo Lòpez de Munaìn, Fiore Manganelli, Marina Kennerson, Filippo Maria Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferran Prados Carrasco, Tarek Yousry, Vikram Khurana, Sheng-Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette Hartmann, Nazli Basak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M Reilly, Henry Houlden, Andreas Cortese
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain : a journal of neurology (2024)
Nazgol Motamed-Gorji, Youssef Khalil, Cristina Gonzalez-Robles, Shamsher Khan, Philippa Mills, Hector Garcia-Moreno, Heather Ging, Ambreen Tariq, Peter Theodore Clayton, Paola Giunti
Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C. Antioxidants (Basel, Switzerland) 13 (5) (2024)
Geetanjali Rajamani, Seth A Stafki, Audrey L Daugherty, William G Mantyh, Hannah R Littel, Christine C Bruels, Christina A Pacak, Paul D Robbins, Laura J Niedernhofer, Adesoji Abiona, Paola Giunti, Shehla Mohammed, Vincent Laugel, Peter B Kang
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurology. Clinical practice 14 (4) (2024)
Daniela Scarabino, Liana Veneziano, Suran Nethisinghe, Elide Mantuano, Alessia Fiore, Giulia Granata, Nita Solanky, Ginevra Zanni, Francesca Cavalcanti, Rosa Maria Corbo, Paola Giunti
Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia. Movement disorders : official journal of the Movement Disorder Society (2024)
Nazgol Motamed-Gorji, Youssef Khalil, Cristina Gonzalez-Robles, Shamsher Khan, Philippa Mills, Hector Garcia-Moreno, Heather Ging, Ambreen Tariq, Peter Theodore Clayton, Paola Giunti
Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C. Antioxidants (Basel, Switzerland) 13 (5) (2024)
Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández-Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard H Roxburgh, null null, Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo Lòpez de Munaìn, Fiore Manganelli, Marina Kennerson, Filippo Maria Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferran Prados Carrasco, Tarek Yousry, Vikram Khurana, Sheng-Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette Hartmann, Nazli Basak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M Reilly, Henry Houlden, Andreas Cortese
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain : a journal of neurology 147 (5) (2024)
Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández-Eulate, Benjamin Bender, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard H Roxburgh, null null, Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo Lòpez de Munaìn, Fiore Manganelli, Marina Kennerson, Filippo Maria Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferran Prados Carrasco, Tarek Yousry, Vikram Khurana, Sheng-Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette Hartmann, Nazli Basak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M Reilly, Henry Houlden, Andreas Cortese
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain : a journal of neurology (2024)
Geetanjali Rajamani, Seth A Stafki, Audrey L Daugherty, William G Mantyh, Hannah R Littel, Christine C Bruels, Christina A Pacak, Paul D Robbins, Laura J Niedernhofer, Adesoji Abiona, Paola Giunti, Shehla Mohammed, Vincent Laugel, Peter B Kang
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurology. Clinical practice 14 (4) (2024)
Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández-Eulate, Benjamin Bender, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard H Roxburgh, null null, Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo Lòpez de Munaìn, Fiore Manganelli, Marina Kennerson, Filippo Maria Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferran Prados Carrasco, Tarek Yousry, Vikram Khurana, Sheng-Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette Hartmann, Nazli Basak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M Reilly, Henry Houlden, Andreas Cortese
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain : a journal of neurology (2024)
Hector Garcia-Moreno, Douglas R Langbehn, Adesoji Abiona, Isabel Garrood, Zofia Fleszar, Marta Antonia Manes, Ana M Susana Morley, Emma Craythorne, Shehla Mohammed, Tanya Henshaw, Sally Turner, Harsha Naik, Istvan Bodi, Robert P E Sarkany, Hiva Fassihi, Alan R Lehmann, Paola Giunti
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression. Brain : a journal of neurology 146 (12) (2023)
Jennifer Faber, Moritz Berger, Carlo Wilke, Jeannette Hübener, Tamara Schaprian, Magda M Santana, Marcus Grobe-Einsler, Dement Onder, Berkan Koyak, Paola Giunti, Hector Garcia-Moreno, Cristina Gonzalez-Robles, Manuela Lima, Mafalda Raposo, Ana Rosa Vieira Melo, Luís Pereira de Almeida, Patrick Silva, Maria M Pinto, Bart P C Van De Warrenburg, Judith van Gaalen, Jeroen Jeroen de Vries, Gülin Öz, James M Joers, Matthis Synofzik, Ludger Schöls, Olaf Riess, Jon Infante, Leire Manrique, Dagmar Timmann, Andreas Thieme, Heike Jacobi, Kathrin Reetz, Imis Dogan, Chiadikaobi U Onyike, Michal Povazan, Jeremy D Schmahmann, Eva-Maria Ratai, Matthias Schmid, Thomas Klockgether
Stage-dependent biomarker changes in spinocerebellar ataxia type 3. medRxiv : the preprint server for health sciences (2023)
Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Steve Morris, Paola Giunti
Patient pathways for rare diseases in Europe: ataxia as an example. Orphanet journal of rare diseases 18 (1) (2023)
Stephen Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Paola Giunti
Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey. Orphanet journal of rare diseases 18 (1) (2023)
Jennifer Faber, Moritz Berger, Carlo Wilke, Jeannette Hübener, Tamara Schaprian, Magda M Santana, Marcus Grobe-Einsler, Dement Onder, Berkan Koyak, Paola Giunti, Hector Garcia-Moreno, Cristina Gonzalez-Robles, Manuela Lima, Mafalda Raposo, Ana Rosa Vieira Melo, Luís Pereira de Almeida, Patrick Silva, Maria M Pinto, Bart P C Van De Warrenburg, Judith van Gaalen, Jeroen Jeroen de Vries, Gülin Öz, James M Joers, Matthis Synofzik, Ludger Schöls, Olaf Riess, Jon Infante, Leire Manrique, Dagmar Timmann, Andreas Thieme, Heike Jacobi, Kathrin Reetz, Imis Dogan, Chiadikaobi U Onyike, Michal Povazan, Jeremy D Schmahmann, Eva-Maria Ratai, Matthias Schmid, Thomas Klockgether
Stage-dependent biomarker changes in spinocerebellar ataxia type 3. medRxiv : the preprint server for health sciences (2023)
Mafalda Raposo, Jeannette Hübener, Ana F Ferreira, Ana Rosa Vieira Melo, João Vasconcelos, Paula Pires, Teresa Kay, Hector Garcia-Moreno, Paola Giunti, Magda M Santana, Luis Pereira de Almeida, Jon Infante, Bart P van de Warrenburg, Jeroen J de Vries, Jennifer Faber, Thomas Klockgether, Nicolas Casadei, Jakob Admard, Ludger Schöls, null null, Olaf Riess, Manuela Lima
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3. Brain : a journal of neurology (2023)
Jennifer Faber, Moritz Berger, Carlo Wilke, Jeannette Hübener, Tamara Schaprian, Magda M Santana, Marcus Grobe-Einsler, Dement Onder, Berkan Koyak, Paola Giunti, Hector Garcia-Moreno, Cristina Gonzalez-Robles, Manuela Lima, Mafalda Raposo, Ana Rosa Vieira Melo, Luís Pereira de Almeida, Patrick Silva, Maria M Pinto, Bart P C Van De Warrenburg, Judith van Gaalen, Jeroen Jeroen de Vries, Gülin Öz, James M Joers, Matthis Synofzik, Ludger Schöls, Olaf Riess, Jon Infante, Leire Manrique, Dagmar Timmann, Andreas Thieme, Heike Jacobi, Kathrin Reetz, Imis Dogan, Chiadikaobi U Onyike, Michal Povazan, Jeremy D Schmahmann, Eva-Maria Ratai, Matthias Schmid, Thomas Klockgether
Stage-dependent biomarker changes in spinocerebellar ataxia type 3. medRxiv : the preprint server for health sciences (2023)
Hector Garcia-Moreno, Mercedes Prudencio, Gilbert Thomas-Black, Nita Solanky, Karen R Jansen-West, Rana Hanna Al-Shaikh, Amanda J Heslegrave, Henrik Zetterberg, Magda M Santana, Luis Pereira de Almeida, Ana Vasconcelos-Ferreira, Cristina Januário, Jon Infante, Jennifer Faber, Thomas Klockgether, Kathrin Reetz, Mafalda Raposo, Ana F Ferreira, Manuela Lima, Ludger Schöls, Matthis Synofzik, Jeannette Hübener, Andreas Puschmann, Sorina Gorcenco, Zbigniew K Wszolek, Leonard Petrucelli, Paola Giunti
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3. European journal of neurology 29 (8) (2022)
Steffi Thust, Liana Veneziano, Michael H Parkinson, Kailash P Bhatia, Elide Mantuano, Cristina Gonzalez-Robles, Indran Davagnanam, Paola Giunti
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations. Neurogenetics 23 (2) (2022)
Gilbert Thomas-Black, Andrada Dumitrascu, Hector Garcia-Moreno, Julie Vallortigara, Julie Greenfield, Barry Hunt, Susan Walther, Mackenzie Wells, David R Lynch, Hugh Montgomery, Paola Giunti
The attitude of patients with progressive ataxias towards clinical trials. Orphanet journal of rare diseases 17 (1) (2022)
Mercedes Prudencio, Hector Garcia-Moreno, Karen R Jansen-West, Rana Hanna Al-Shaikh, Tania F Gendron, Michael G Heckman, Matthew R Spiegel, Yari Carlomagno, Lillian M Daughrity, Yuping Song, Judith A Dunmore, Natalie Byron, Björn E Oskarsson, Katharine A Nicholson, Nathan P Staff, Sorina Gorcenco, Andreas Puschmann, João M Lemos, Cristina Januário, Mark S LeDoux, Joseph H Friedman, James Polke, Robin Labrum, Vikram G Shakkottai, Hayley S McLoughlin, Henry L Paulson, Takuya Konno, Osamu Onodera, Takeshi Ikeuchi, Mari Tada, Akiyoshi Kakita, John D Fryer, Christin Karremo, Inês Gomes, John N Caviness, Mark R Pittelkow, Jan O Aasly, Ronald F Pfeiffer, Venka Veerappan, Eric R Eggenberger, William David Freeman, Josephine F Huang, Ryan J Uitti, Klaas J Wierenga, Iris V Marin Collazo, Philip Wade Tipton, Jay A van Gerpen, Marka van Blitterswijk, Guojun Bu, Zbigniew K Wszolek, Paola Giunti, Leonard Petrucelli
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3. Science translational medicine 12 (566) (2021)
Rosella Abeti, Anna Zeitlberger, Colm Peelo, Hiva Fassihi, Robert P E Sarkany, Alan R Lehmann, Paola Giunti
Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms. British journal of pharmacology 176 (22) (2019)
Arron Cook, Sylvia Boesch, Suzette Heck, Ewout Brunt, Thomas Klockgether, Ludger Schöls, Angela Schulz, Paola Giunti
Patient-reported outcomes in Friedreich's ataxia after withdrawal from idebenone. Acta neurologica Scandinavica 139 (6) (2019)
Rajith de Silva, Julie Greenfield, Arron Cook, Harriet Bonney, Julie Vallortigara, Barry Hunt, Paola Giunti
Guidelines on the diagnosis and management of the progressive ataxias. Orphanet journal of rare diseases 14 (1) (2019)
Meher Lad, Michael H Parkinson, Myriam Rai, Massimo Pandolfo, Petya Bogdanova-Mihaylova, Richard A Walsh, Sinéad Murphy, Anton Emmanuel, Jalesh Panicker, Paola Giunti
Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia. Orphanet journal of rare diseases 12 (1) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Paola Giunti