Works matching AU Giunti, Paola

Results: 114

Patient‐reported outcomes in Friedreich's ataxia after withdrawal from idebenone.

Published in:

Acta Neurologica Scandinavica, 2019, v. 139, n. 6, p. 533, doi. 10.1111/ane.13088

By:

Cook, Arron;
Boesch, Sylvia;
Heck, Suzette;
Brunt, Ewout;
Klockgether, Thomas;
Schöls, Ludger;
Schulz, Angela;
Giunti, Paola

Publication type:

Article

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia.

Published in:

2017

By:

Lad, Meher;
Parkinson, Michael H.;
Rai, Myriam;
Pandolfo, Massimo;
Bogdanova-Mihaylova, Petya;
Walsh, Richard A.;
Murphy, Sinéad;
Emmanuel, Anton;
Panicker, Jalesh;
Giunti, Paola

Publication type:

journal article

A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7.

Published in:

2016

By:

Moriarty, Amy;
Cook, Arron;
Hunt, Helen;
Adams, Matthew E.;
Cipolotti, Lisa;
Giunti, Paola

Publication type:

journal article

Training balance with opto-kinetic stimuli in the home: a randomized controlled feasibility study in people with pure cerebellar disease.

Published in:

Clinical Rehabilitation, 2015, v. 29, n. 2, p. 143, doi. 10.1177/0269215514539336

By:

Bunn, Lisa M;
Marsden, Jonathan F;
Giunti, Paola;
Day, Brian L

Publication type:

Article

Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.

Published in:

Annals of Neurology, 2024, v. 95, n. 2, p. 400, doi. 10.1002/ana.26824

By:

Faber, Jennifer;
Berger, Moritz;
Wilke, Carlo;
Hubener‐Schmid, Jeannette;
Schaprian, Tamara;
Santana, Magda M.;
Grobe‐Einsler, Marcus;
Onder, Demet;
Koyak, Berkan;
Giunti, Paola;
Garcia‐Moreno, Hector;
Gonzalez‐Robles, Cristina;
Lima, Manuela;
Raposo, Mafalda;
Melo, Ana Rosa Vieira;
de Almeida, Luís Pereira;
Silva, Patrick;
Pinto, Maria M.;
van de Warrenburg, Bart P.;
van Gaalen, Judith

Publication type:

Article

Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).

Published in:

Annals of Neurology, 2021, v. 89, n. 2, p. 212, doi. 10.1002/ana.25934

By:

Lynch, David R.;
Chin, Melanie P.;
Delatycki, Martin B.;
Subramony, S. H.;
Corti, Manuela;
Hoyle, J. Chad;
Boesch, Sylvia;
Nachbauer, Wolfgang;
Mariotti, Caterina;
Mathews, Katherine D.;
Giunti, Paola;
Wilmot, George;
Zesiewicz, Theresa;
Perlman, Susan;
Goldsberry, Angie;
O'Grady, Megan;
Meyer, Colin J.

Publication type:

Article

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.

Published in:

2016

By:

Bettencourt, Conceição;
Hensman‐Moss, Davina;
Flower, Michael;
Wiethoff, Sarah;
Brice, Alexis;
Goizet, Cyril;
Stevanin, Giovanni;
Koutsis, Georgios;
Karadima, Georgia;
Panas, Marios;
Yescas‐Gómez, Petra;
García‐Velázquez, Lizbeth Esmeralda;
Alonso‐Vilatela, María Elisa;
Lima, Manuela;
Raposo, Mafalda;
Traynor, Bryan;
Sweeney, Mary;
Wood, Nicholas;
Giunti, Paola;
Durr, Alexandra

Publication type:

journal article

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Published in:

2016

By:

Galea, Charles A.;
Huq, Aamira;
Lockhart, Paul J.;
Tai, Geneieve;
Corben, Louise A.;
Yiu, Eppie M.;
Gurrin, Lyle C.;
Lynch, David R.;
Gelbard, Sarah;
Durr, Alexandra;
Pousset, Francoise;
Parkinson, Michael;
Labrum, Robyn;
Giunti, Paola;
Perlman, Susan L.;
Delatycki, Martin B.;
Evans‐Galea, Marguerite V.

Publication type:

journal article

The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-03005-9

By:

Cannizzo, Sara;
Quoidbach, Vinciane;
Giunti, Paola;
Oertel, Wolfgang;
Pastores, Gregory;
Relja, Maja;
Turchetti, Giuseppe

Publication type:

Article

Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02971-4

By:

Morris, Stephen;
Vallortigara, Julie;
Greenfield, Julie;
Hunt, Barry;
Hoffman, Deborah;
Reinhard, Carola;
Graessner, Holm;
Federico, Antonio;
Quoidbach, Vinciane;
Giunti, Paola

Publication type:

Article

Patient pathways for rare diseases in Europe: ataxia as an example.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02907-y

By:

Vallortigara, Julie;
Greenfield, Julie;
Hunt, Barry;
Hoffman, Deborah;
Reinhard, Carola;
Graessner, Holm;
Federico, Antonio;
Quoidbach, Vinciane;
Morris, Steve;
Giunti, Paola

Publication type:

Article

Ataxin‐7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats.

Published in:

Annals of Neurology, 2004, v. 56, n. 3, p. 448

By:

Olaf Ansorge;
Paola Giunti;
Andrej Michalik;
Christine Van Broeckhoven;
Brian Harding;
Nicholas Wood;
Francesco Scaravilli

Publication type:

Article

Unusual Age‐Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia.

Published in:

Movement Disorders, 2024, v. 39, n. 11, p. 2058, doi. 10.1002/mds.29976

By:

Scarabino, Daniela;
Veneziano, Liana;
Nethisinghe, Suran;
Mantuano, Elide;
Fiore, Alessia;
Granata, Giulia;
Solanky, Nita;
Zanni, Ginevra;
Cavalcanti, Francesca;
Corbo, Rosa Maria;
Giunti, Paola

Publication type:

Article

Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study.

Published in:

Movement Disorders, 2024, v. 39, n. 3, p. 510, doi. 10.1002/mds.29687

By:

Indelicato, Elisabetta;
Reetz, Kathrin;
Maier, Sarah;
Nachbauer, Wolfgang;
Amprosi, Matthias;
Giunti, Paola;
Mariotti, Caterina;
Durr, Alexandra;
de Rivera Garrido, Francisco J.R.;
Klopstock, Thomas;
Schöls, Ludger;
Klockgether, Thomas;
Bürk, Katrin;
Pandolfo, Massimo;
Didszun, Claire;
Grobe‐Einsler, Marcus;
Nanetti, Lorenzo;
Nenning, Lukas;
Kiechl, Stefan;
Dichtl, Wolfgang

Publication type:

Article

Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers.

Published in:

Movement Disorders, 2023, v. 38, n. 6, p. 959, doi. 10.1002/mds.29277

By:

Thomas‐Black, Gilbert;
Altmann, Daniel R.;
Crook, Harry;
Solanky, Nita;
Carrasco, Ferran Prados;
Battiston, Marco;
Grussu, Francesco;
Yiannakas, Marios C.;
Kanber, Baris;
Jolly, Jasleen K.;
Brett, Jon;
Downes, Susan M.;
Moran, Marni;
Chan, Ping K.;
Adewunmi, Emmanuel;
Gandini Wheeler‐Kingshott, Claudia A.M.;
Németh, Andrea H.;
Festenstein, Richard;
Bremner, Fion;
Giunti, Paola

Publication type:

Article

Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed‐Start Analysis of the MOXIe Extension.

Published in:

Movement Disorders, 2023, v. 38, n. 2, p. 313, doi. 10.1002/mds.29286

By:

Lynch, David R.;
Chin, Melanie P.;
Boesch, Sylvia;
Delatycki, Martin B.;
Giunti, Paola;
Goldsberry, Angie;
Hoyle, J. Chad;
Mariotti, Caterina;
Mathews, Katherine D.;
Nachbauer, Wolfgang;
O'Grady, Megan;
Perlman, Susan;
Subramony, S.H.;
Wilmot, George;
Zesiewicz, Theresa;
Meyer, Colin J.

Publication type:

Article

Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3.

Published in:

2022

By:

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

Publication type:

journal article

Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.

Published in:

Movement Disorders, 2022, v. 37, n. 2, p. 405, doi. 10.1002/mds.28844

By:

Hengel, Holger;
Martus, Peter;
Faber, Jennifer;
Garcia‐Moreno, Hector;
Solanky, Nita;
Giunti, Paola;
Klockgether, Thomas;
Reetz, Kathrin;
van de Warrenburg, Bart P.;
Pereira de Almeida, Luís;
Santana, Magda M.;
Januário, Cristina;
Silva, Patrick;
Thieme, Andreas;
Infante, Jon;
de Vries, Jeroen;
Lima, Manuela;
Ferreira, Ana F.;
Bushara, Khalaf;
Jacobi, Heike

Publication type:

Article

Polyglutamine‐Expanded Ataxin‐3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood.

Published in:

Movement Disorders, 2021, v. 36, n. 11, p. 2675, doi. 10.1002/mds.28749

By:

Hübener‐Schmid, Jeannette;
Kuhlbrodt, Kirsten;
Peladan, Julien;
Faber, Jennifer;
Santana, Magda M.;
Hengel, Holger;
Jacobi, Heike;
Reetz, Kathrin;
Garcia‐Moreno, Hector;
Raposo, Mafalda;
van Gaalen, Judith;
Infante, Jon;
Steiner, Katharina M.;
de Vries, Jeroen;
Verbeek, Marcel M.;
Giunti, Paola;
Pereira de Almeida, Luis;
Lima, Manuela;
van de Warrenburg, Bart;
Schöls, Ludger

Publication type:

Article

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

Published in:

Movement Disorders, 2021, v. 36, n. 10, p. 2273, doi. 10.1002/mds.28610

By:

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

Publication type:

Article

Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.

Published in:

2021

By:

Rezende Filho, Flávio Moura;
Bremner, Fion;
Pedroso, José Luiz;
de Andrade, João Brainer Clares;
Marianelli, Bruna Ferraço;
Lourenço, Charles Marques;
Marques‐Júnior, Wilson;
França, Marcondes C.;
Kok, Fernando;
Sallum, Juliana M.F.;
Parkinson, Michael H.;
Barsottini, Orlando G.;
Giunti, Paola;
Marques-Júnior, Wilson;
França, Marcondes C Jr

Publication type:

journal article

Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.

Published in:

2019

By:

Diallo, Alhassane;
Jacobi, Heike;
Cook, Arron;
Giunti, Paola;
Parkinson, Michael H.;
Labrum, Robyn;
Durr, Alexandra;
Brice, Alexis;
Charles, Perrine;
Marelli, Cecilia;
Mariotti, Caterina;
Nanetti, Lorenzo;
Panzeri, Marta;
Castaldo, Anna;
Rakowicz, Maria;
Rola, Rafal;
Sulek, Anna;
Schmitz‐Hübsch, Tanja;
Schöls, Ludger;
Hengel, Holger

Publication type:

journal article

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

Published in:

2018

By:

Chelban, Viorica;
Wiethoff, Sarah;
Fabian‐Jessing, Bjørn K.;
Haridy, Nourelhoda A.;
Khan, Alaa;
Efthymiou, Stephanie;
Becker, Esther B. E.;
O'Connor, Emer;
Hersheson, Joshua;
Newland, Katrina;
Hojland, Allan Thomas;
Gregersen, Pernille A.;
Lindquist, Suzanne G.;
Petersen, Michael B.;
Nielsen, Jørgen E.;
Nielsen, Michael;
Wood, Nicholas W.;
Giunti, Paola;
Houlden, Henry;
Fabian-Jessing, Bjørn K

Publication type:

journal article

Sensorimotor processing for balance in spinocerebellar ataxia type 6.

Published in:

2015

By:

Bunn, Lisa M.;
Marsden, Jonathan F.;
Voyce, Daniel C.;
Giunti, Paola;
Day, Brian L.

Publication type:

journal article

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

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

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

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.736253

By:

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

Publication type:

Article

Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia.

Published in:

Nature Genetics, 2000, v. 24, n. 3, p. 214, doi. 10.1038/73411

By:

Worth, Paul F.;
Houlden, Henry;
Giunti, Paola;
Davis, Mary B.;
Wood, Nicholas W.

Publication type:

Article

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C.

Published in:

Antioxidants, 2024, v. 13, n. 5, p. 561, doi. 10.3390/antiox13050561

By:

Motamed-Gorji, Nazgol;
Khalil, Youssef;
Gonzalez-Robles, Cristina;
Khan, Shamsher;
Mills, Philippa;
Garcia-Moreno, Hector;
Ging, Heather;
Tariq, Ambreen;
Clayton, Peter T.;
Giunti, Paola

Publication type:

Article

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

Published in:

Antioxidants, 2022, v. 11, n. 8, p. 1, doi. 10.3390/antiox11081436

By:

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

Publication type:

Article

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Published in:

2018

By:

Parkinson, Michael H;
Bartmann, Ana P;
Clayton, Lisa M S;
Nethisinghe, Suran;
Pfundt, Rolph;
Chapple, J Paul;
Reilly, Mary M;
Manji, Hadi;
Wood, Nicholas J;
Bremner, Fion;
Giunti, Paola

Publication type:

journal article

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

Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database.

Published in:

2013

By:

Metz G;
Coppard N;
Cooper JM;
Delatycki MB;
Dürr A;
Di Prospero NA;
Giunti P;
Lynch DR;
Schulz JB;
Rummey C;
Meier T;
Metz, Günther;
Coppard, Nicholas;
Cooper, Jonathon M;
Delatycki, Martin B;
Dürr, Alexandra;
Di Prospero, Nicholas A;
Giunti, Paola;
Lynch, David R;
Schulz, J B

Publication type:

journal article

Rating disease progression of Friedreich’s ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 259, doi. 10.1093/brain/aws309

By:

Metz, Günther;
Coppard, Nicholas;
Cooper, Jonathon M.;
Delatycki, Martin B.;
Dürr, Alexandra;
Di Prospero, Nicholas A.;
Giunti, Paola;
Lynch, David R.;
Schulz, J. B.;
Rummey, Christian;
Meier, Thomas

Publication type:

Article

Molecular pathogenesis of spinocerebellar ataxias.

Published in:

Brain: A Journal of Neurology, 2006, v. 129, n. 6, p. 1357

By:

Antoni Matilla Dueñas;
Robert Goold;
Paola Giunti

Publication type:

Article

Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases.

Published in:

Brain: A Journal of Neurology, 2002, v. 125, n. 3, p. 656, doi. 10.1093/brain/awf060

By:

Pang, Joanna T.;
Giunti, Paola;
Chamberlain, Susan;
An, Shu F.;
Vitaliani, Roberta;
Scaravilli, Tomaso;
Martinian, Lillian;
Wood, Nicholas W.;
Scaravilli, Francesco;
Ansorge, Olaf

Publication type:

Article

Centres of excellence for the care of people with progressive ataxias.

Published in:

British Journal of Neuroscience Nursing, 2008, v. 4, n. 11, p. 544, doi. 10.12968/bjnn.2008.4.11.31698

By:

Greenfield, Julie;
Treacy, Colm;
Giunti, Paola

Publication type:

Article

GAD antibodies in neurological disease: a critical evaluation of the utility and treatment implications of GAD antibodies in clinical practice.

Published in:

Journal of Neurology, 2025, v. 272, n. 3, p. 1, doi. 10.1007/s00415-025-12926-3

By:

Brown, Rachel L.;
Thomas-Black, Gilbert;
Garcia-Moreno, Hector;
Chou, Michael;
Fleszar, Zofia;
Zandi, Michael S.;
Chapman, Miles;
Church, Andrew J.;
Hart, Melanie;
Giunti, Paola;
Vincent, Angela;
Lunn, Michael P.

Publication type:

Article

Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.

Published in:

Journal of Neurology, 2025, v. 272, n. 1, p. 1, doi. 10.1007/s00415-024-12829-9

By:

Elter, Tim Lukas;
Sturm, Daniel;
Santana, Magda M.;
Schaprian, Tamara;
Raposo, Mafalda;
Melo, Ana Rosa Vieira;
Lima, Manuela;
Koyak, Berkan;
Oender, Demet;
Grobe-Einsler, Marcus;
Lopes, Sara;
Silva, Patrick;
de Almeida, Luís Pereira;
Giunti, Paola;
Garcia-Moreno, Hector;
Nethisinhe, Suran;
de Vries, Jeroen;
van de Warrenburg, Bart P.;
van Gaalen, Judith;
Synofzik, Matthis

Publication type:

Article

Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.

Published in:

Journal of Neurology, 2025, v. 272, n. 1, p. 1, doi. 10.1007/s00415-024-12829-9

By:

Elter, Tim Lukas;
Sturm, Daniel;
Santana, Magda M.;
Schaprian, Tamara;
Raposo, Mafalda;
Melo, Ana Rosa Vieira;
Lima, Manuela;
Koyak, Berkan;
Oender, Demet;
Grobe-Einsler, Marcus;
Lopes, Sara;
Silva, Patrick;
de Almeida, Luís Pereira;
Giunti, Paola;
Garcia-Moreno, Hector;
Nethisinhe, Suran;
de Vries, Jeroen;
van de Warrenburg, Bart P.;
van Gaalen, Judith;
Synofzik, Matthis

Publication type:

Article

Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors.

Published in:

2024

By:

Hengel, Holger;
Martus, Peter;
Faber, Jennifer;
Giunti, 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

Publication type:

Correction Notice

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

Published in:

2021

By:

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

Publication type:

Correction Notice

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.

Published in:

Journal of Neurology, 2018, v. 265, n. 9, p. 2040, doi. 10.1007/s00415-018-8954-0

By:

Jacobi, Heike;
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;
Sarro, Lidia;
Rakowicz, Maria;
Sulek, Anna;
Sobanska, Anna;
Schmitz-Hübsch, Tanja;
Schöls, Ludger;
Hengel, Holger

Publication type:

Article

The frequency of spinocerebellar ataxia type 23 in a UK population.

Published in:

Journal of Neurology, 2013, v. 260, n. 3, p. 856, doi. 10.1007/s00415-012-6721-1

By:

Fawcett, Katherine;
Mehrabian, Mohadeseh;
Liu, Yo-Tsen;
Hamed, Sherifa;
Elahi, Elahe;
Revesz, Tamas;
Koutsis, Georgios;
Herscheson, Joshua;
Schottlaender, Lucia;
Wardle, Mark;
Morrison, Patrick;
Morris, Huw;
Giunti, Paola;
Wood, Nicholas;
Houlden, Henry

Publication type:

Article

Erratum to: The frequency of spinocerebellar ataxia type 23 in a UK population.

Published in:

2013

By:

Fawcett, Katherine;
Mehrabian, Mohadeseh;
Liu, Yo-Tsen;
Hamed, Sherifa;
Elahi, Elahe;
Revesz, Tamas;
Koutsis, Georgios;
Herscheson, Joshua;
Schottlaender, Lucia;
Wardle, Mark;
Morrison, Patrick;
Morris, Huw;
Giunti, Paola;
Wood, Nicholas;
Houlden, Henry

Publication type:

Correction Notice

Stance instability in spinocerebellar ataxia type 6.

Published in:

Movement Disorders, 2013, v. 28, n. 4, p. 510, doi. 10.1002/mds.25163

By:

Bunn, Lisa M.;
Marsden, Jonathan F.;
Giunti, Paola;
Day, Brian L.

Publication type:

Article

Movement disorders in spinocerebellar ataxias.

Published in:

Movement Disorders, 2011, v. 26, n. 5, p. 792, doi. 10.1002/mds.23584

By:

van Gaalen, Judith;
Giunti, Paola;
van de Warrenburg, Bart P.

Publication type:

Article

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

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description.

Published in:

Movement Disorders, 2010, v. 25, n. 13, p. 2176, doi. 10.1002/mds.23223

By:

Novak, Marianne J.U.;
Sweeney, Mary G.;
Li, Abi;
Treacy, Colm;
Chandrashekar, Hoskote S.;
Giunti, Paola;
Goold, Robert G.;
Davis, Mary B.;
Houlden, Henry;
Tabrizi, Sarah J.

Publication type:

Article

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.

Published in:

Movement Disorders, 2010, v. 25, n. 6, p. 771, doi. 10.1002/mds.22970

By:

van de Leemput, Joyce;
Wavrant-De Vrièze, Fabienne;
Rafferty, Ian;
Bras, Jose M.;
Giunti, Paola;
Fisher, Elizabeth MC;
Hardy, John A.;
Singleton, Andrew B.;
Houlden, Henry

Publication type:

Article