Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients

por Brown, Alexander F., Parkinson, Michael H., Garcia-Moreno, Hector, Mudanohwo, Ese, Labrum, Robyn, Sweeney, Mary, Giunti, Paola
Publicado 2021

Xeroderma pigmentosum is a definite cause of Huntington's disease‐like syndrome

por Garcia‐Moreno, Hector, Fassihi, Hiva, Sarkany, Robert P.E., Phukan, Julie, Warner, Thomas, Lehmann, Alan R., Giunti, Paola
Publicado 2017

Plasma Markers of Neurodegeneration Are Raised in Friedreich’s Ataxia

por Zeitlberger, Anna M., Thomas-Black, Gilbert, Garcia-Moreno, Hector, Foiani, Martha, Heslegrave, Amanda J., Zetterberg, Henrik, Giunti, Paola
Publicado 2018

Correction to: DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder

por Chaudhry, Aiysha, Athanasiou-Fragkouli, Alkyoni, Garcia-Moreno, Hector, Abadias, Silvia Prades, Greenfield, Julie, Shiloh-Malawsky, Yael, Giunti, Paola, Houlden, Henry
Publicado 2021

Lower urinary tract and bowel dysfunction in spinocerebellar ataxias

por Afonso Ribeiro, Joana, Simeoni, Sara, De Min, Lorenzo, Uchiyama, Tomoyuki, Tung Lo, Yu, Solanky, Nita, Garcia‐Moreno, Hector, Giunti, Paola, Panicker, Jalesh N.
Publicado 2020

The attitude of patients with progressive ataxias towards clinical trials

por Thomas-Black, Gilbert, Dumitrascu, Andrada, Garcia-Moreno, Hector, Vallortigara, Julie, Greenfield, Julie, Hunt, Barry, Walther, Susan, Wells, Mackenzie, Lynch, David R., Montgomery, Hugh, Giunti, Paola
Publicado 2022

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner

por Nethisinghe, Suran, Kesavan, Maheswaran, Ging, Heather, Labrum, Robyn, Polke, James M., Islam, Saiful, Garcia-Moreno, Hector, Callaghan, Martina F., Cavalcanti, Francesca, Pook, Mark A., Giunti, Paola
Publicado 2021

Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases

por Scarabino, Daniela, Veneziano, Liana, Fiore, Alessia, Nethisinghe, Suran, Mantuano, Elide, Garcia-Moreno, Hector, Bellucci, Gianmarco, Solanky, Nita, Morello, Maria, Zanni, Ginevra, Corbo, Rosa Maria, Giunti, Paola
Publicado 2022

Living with chronic migraine: a qualitative study on female patients’ perspectives from a specialised headache clinic in Spain

por Palacios-Ceña, Domingo, Neira-Martín, Beatriz, Silva-Hernández, Lorenzo, Mayo-Canalejo, Diego, Florencio, Lidiane Lima, Fernández-de-las-Peñas, César, García-Moreno, Héctor, García-Azorín, David, Cuadrado, María Luz
Publicado 2017

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

por 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
Publicado 2023

Cerebellar volumetry in ataxias: Relation to ataxia severity and duration

por Ferreira, Mónica, Schaprian, Tamara, Kügler, David, Reuter, Martin, Deike-Hoffmann, Katerina, Timmann, Dagmar, Ernst, Thomas, 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, Klockgether, Thomas, Faber, Jennifer
Publicado 2023

Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3

por Maas, Roderick P.P.W.M., Teerenstra, Steven, Lima, Manuela, Pires, Paula, Pereira de Almeida, Luís, van Gaalen, Judith, Timmann, Dagmar, Infante, Jon, Onyike, Chiadi, Bushara, Khalaf, Jacobi, Heike, Reetz, Kathrin, Santana, Magda M., Afonso Ribeiro, Joana, Hübener‐Schmid, Jeannette, de Vries, Jeroen J., Synofzik, Matthis, Schöls, Ludger, Garcia‐Moreno, Hector, Giunti, Paola, Faber, Jennifer, Klockgether, Thomas, van de Warrenburg, Bart P.C.
Publicado 2022

The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors

por Hengel, Holger, Martus, Peter, Faber, Jennifer, Giunit, Paola, Garcia-Moreno, Hector, Solanky, Nita, Klockgether, Thomas, Reetz, Kathrin, van de Warrenburg, Bart P., Santana, Magda M., Silva, Patrick, Cunha, Inês, de Almeida, Luís Pereira, Timmann, Dagmar, Infante, Jon, de Vries, Jeroen, Lima, Manuela, Pires, Paula, Bushara, Khalaf, Jacobi, Heike, Onyike, Chiadi, Schmahmann, Jeremy D., Hübener-Schmid, Jeannette, Synofzik, Matthis, Schöls, Ludger
Publicado 2022

Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice

por Wilke, Carlo, Haas, Eva, Reetz, Kathrin, Faber, Jennifer, Garcia‐Moreno, Hector, Santana, Magda M, van de Warrenburg, Bart, Hengel, Holger, Lima, Manuela, Filla, Alessandro, Durr, Alexandra, Melegh, Bela, Masciullo, Marcella, Infante, Jon, Giunti, Paola, Neumann, Manuela, de Vries, Jeroen, Pereira de Almeida, Luis, Rakowicz, Maria, Jacobi, Heike, Schüle, Rebecca, Kaeser, Stephan A, Kuhle, Jens, Klockgether, Thomas, Schöls, Ludger, Barro, Christian, Hübener‐Schmid, Jeannette, Synofzik, Matthis
Publicado 2020

Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3

por Garcia‐Moreno, Hector, Prudencio, Mercedes, Thomas‐Black, Gilbert, Solanky, Nita, Jansen‐West, Karen R., Hanna AL‐Shaikh, Rana, Heslegrave, Amanda, Zetterberg, Henrik, Santana, Magda M., Pereira de Almeida, Luis, Vasconcelos‐Ferreira, Ana, Januário, Cristina, Infante, Jon, Faber, Jennifer, Klockgether, Thomas, Reetz, Kathrin, Raposo, Mafalda, Ferreira, Ana F., Lima, Manuela, Schöls, Ludger, Synofzik, Matthis, Hübener‐Schmid, Jeannette, Puschmann, Andreas, Gorcenco, Sorina, Wszolek, Zbigniew K., Petrucelli, Leonard, Giunti, Paola
Publicado 2022

Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3

por Faber, Jennifer, Schaprian, Tamara, Berkan, Koyak, Reetz, Kathrin, França, Marcondes Cavalcante, de Rezende, Thiago Junqueira Ribeiro, Hong, Jiang, Liao, Weihua, van de Warrenburg, Bart, van Gaalen, Judith, Durr, Alexandra, Mochel, Fanny, Giunti, Paola, Garcia-Moreno, Hector, Schoels, Ludger, Hengel, Holger, Synofzik, Matthis, Bender, Benjamin, Oz, Gulin, Joers, James, de Vries, Jereon J., Kang, Jun-Suk, Timmann-Braun, Dagmar, Jacobi, Heike, Infante, Jon, Joules, Richard, Romanzetti, Sandro, Diedrichsen, Jorn, Schmid, Matthias, Wolz, Robin, Klockgether, Thomas
Publicado 2021

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

por Erdinc, Direnis, Rodríguez‐Luis, Alejandro, Fassad, Mahmoud R, Mackenzie, Sarah, Watson, Christopher M, Valenzuela, Sebastian, Xie, Xie, Menger, Katja E, Sergeant, Kate, Craig, Kate, Hopton, Sila, Falkous, Gavin, Poulton, Joanna, Garcia‐Moreno, Hector, Giunti, Paola, de Moura Aschoff, Carlos A, Morales Saute, Jonas A, Kirby, Amelia J, Toro, Camilo, Wolfe, Lynne, Novacic, Danica, Greenbaum, Lior, Eliyahu, Aviva, Barel, Ortal, Anikster, Yair, McFarland, Robert, Gorman, Gráinne S, Schaefer, Andrew M, Gustafsson, Claes M, Taylor, Robert W, Falkenberg, Maria, Nicholls, Thomas J
Publicado 2023

Stage-dependent biomarker changes in spinocerebellar ataxia type 3

por Faber, Jennifer, Berger, Moritz, Carlo, Wilke, Hübener-Schmid, Jeannette, Schaprian, Tamara, Santana, Magda M, Grobe-Einsler, Marcus, Onder, Dement, Koyak, Berkan, Giunti, Paola, Garcia-Moreno, Hector, Gonzalez-Robles, Cristina, Lima, Manuela, Raposo, Mafalda, Melo, Ana Rosa Vieira, de Almeida, Luis Pereira, Silva, Patrick, Pinto, Maria M, van de Warrenburg, Bart P., van Gaalen, Judith, de Vries, Jeroen, Jeroen, Oz, Gulin, Joers, James M., Synofzik, Matthis, Schöls, Ludger, Riess, Olaf, Infante, Jon, Manrique, Leire, Timmann, Dagmar, Thieme, Andreas, Jacobi, Heike, Reetz, Kathrin, Dogan, Imis, Onyike, Chiadikaobi, Povazan, Michal, Schmahmann, Jeremy, Ratai, Eva-Maria, Schmid, Matthias, Klockgether, Thomas
Publicado 2023

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

por Morsy, Heba, Benkirane, Mehdi, Cali, Elisa, Rocca, Clarissa, Zhelcheska, Kristina, Cipriani, Valentina, Galanaki, Evangelia, Maroofian, Reza, Efthymiou, Stephanie, Murphy, David, O’Driscoll, Mary, Suri, Mohnish, Banka, Siddharth, Clayton-Smith, Jill, Wright, Thomas, Redman, Melody, Bassetti, Jennifer A., Nizon, Mathilde, Cogne, Benjamin, Jamra, Rami Abu, Bartolomaeus, Tobias, Heruth, Marion, Krey, Ilona, Gburek-Augustat, Janina, Wieczorek, Dagmar, Gattermann, Felix, Mcentagart, Meriel, Goldenberg, Alice, Guyant-Marechal, Lucie, Garcia-Moreno, Hector, Giunti, Paola, Chabrol, Brigitte, Bacrot, Severine, Buissonnière, Roger, Magry, Virginie, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Melegh, Béla, Szabó, András, Sümegi, Katalin, Cossée, Mireille, Ziff, Monica, Butterfield, Russell, Hunt, David, Bird-Lieberman, Georgina, Hanna, Michael, Koenig, Michel, Stankewich, Michael, Vandrovcova, Jana, Houlden, Henry
Publicado 2023