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Number of items: 111.
Article
Abeti, R;
Jasoliya, M;
Al-Mahdawi, M;
Pook, M;
Gonzalez-Robles, C;
Hui, CK;
Cortopassi, G;
(2022)
Erratum: A Drug Combination Rescues Frataxin-Dependent Neural and Cardiac Pathophysiology in FA Models.
Frontiers in Molecular Biosciences
, 9
, Article 968121. 10.3389/fmolb.2022.968121.
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Abeti, Rosella;
Jasoliya, Mittal;
Al-Mahdawi, Sahar;
Pook, Mark;
Gonzalez-Robles, Cristina;
Hui, Chun Kiu;
Cortopassi, Gino;
(2022)
A Drug Combination Rescues Frataxin-Dependent Neural and Cardiac Pathophysiology in FA Models.
Frontiers in Molecular Biosciences
, 9
, Article 830650. 10.3389/fmolb.2022.830650.
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Abeti, R;
Baccaro, A;
Esteras, N;
Giunti, P;
(2018)
Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich's Ataxia Models.
Frontiers in Cellular Neuroscience
, 12
, Article 188. 10.3389/fncel.2018.00188.
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Abeti, R;
Brown, AF;
Maiolino, M;
Patel, S;
Giunti, P;
(2018)
Calcium Deregulation: Novel Insights to Understand Friedreich's Ataxia Pathophysiology.
Frontiers in Cellular Neuroscience
, 12
, Article 264. 10.3389/fncel.2018.00264.
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Abeti, R;
Parkinson, MH;
Hargreaves, IP;
Angelova, PR;
Sandi, C;
Pook, MA;
Giunti, P;
(2016)
'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'.
Cell Death and Disease
, 7
, Article e2237. 10.1038/cddis.2016.111.
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Abeti, R;
Parkinson, MH;
Rai, M;
Pandolfo, M;
Giunti, P;
(2016)
Clinical Trials and Trials Design.
Journal of Rare Disorders
, 4
(1)
pp. 26-29.
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Abeti, R;
Zeitberger, A;
Peelo, C;
Fassihi, H;
Sarkany, RPE;
Lehmann, AR;
Giunti, P;
(2019)
Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms.
British Journal of Pharmacology
, 176
(22)
pp. 4293-4301.
10.1111/bph.14557.
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Afonso Ribeiro, J;
Simeoni, S;
De Min, L;
Uchiyama, T;
Tung Lo, Y;
Solanky, N;
Garcia-Moreno, H;
... Panicker, JN; + view all
(2021)
Lower urinary tract and bowel dysfunction in spinocerebellar ataxias.
Annals of Clinical and Translational Neurology
, 8
(2)
pp. 321-331.
10.1002/acn3.51266.
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Al-Mahdawi, S;
Ging, H;
Bayot, A;
Cavalcanti, F;
La Cognata, V;
Cavallaro, S;
Giunti, P;
(2018)
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare.
Frontiers in Cellular Neuroscience
, 12
, Article 443. 10.3389/fncel.2018.00443.
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Baumeister, H;
Wegner, P;
Ferreira, M;
Schaprian, T;
França, MC;
Rezende, TJR;
Muro Martinez, AR;
... Stoecker, T; + view all
(2026)
Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.
Ebiomedicine
, 123
, Article 106090. 10.1016/j.ebiom.2025.106090.
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Benkirane, Mehdi;
Bonhomme, Marion;
Morsy, Heba;
Safgren, Stephanie L;
Marelli, Cecilia;
Chaussenot, Annabelle;
Smedley, Damian;
... Koenig, Michel; + view all
(2024)
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Brain
, 147
(11)
pp. 3681-3689.
10.1093/brain/awae193.
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Bettencourt, C;
Hensman-Moss, D;
Flower, M;
Wiethoff, S;
Brice, A;
Goizet, C;
Stevanin, G;
... Jones, L; + view all
(2016)
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
Annals of Neurology
, 79
(6)
pp. 983-990.
10.1002/ana.24656.
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Bradshaw, TY;
Romano, LE;
Duncan, EJ;
Nethisinghe, S;
Abeti, R;
Michael, GJ;
Giunti, P;
... Chapple, JP; + view all
(2016)
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.
Hum Mol Genet
10.1093/hmg/ddw173.
(In press).
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Brown, AF;
Parkinson, MH;
Garcia-Moreno, H;
Mudanohwo, E;
Labrum, R;
Sweeney, M;
Giunti, P;
(2021)
Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients.
Frontiers in Neurology
, 12
, Article 736253. 10.3389/fneur.2021.736253.
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Bunn, LM;
Marsden, JF;
Voyce, DC;
Giunti, P;
Day, BL;
(2015)
Sensorimotor processing for balance in spinocerebellar ataxia type 6.
Movement Disorders
, 30
(9)
pp. 1259-1266.
10.1002/mds.26227.
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Cagnoli, C;
Brussino, A;
Mancini, C;
Ferrone, M;
Orsi, L;
Salmin, P;
Pappi, P;
... Brusco, A; + view all
(2018)
Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
The Journal of Molecular Diagnostics
, 20
(3)
pp. 289-297.
10.1016/j.jmoldx.2017.12.006.
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Cannizzo, Sara;
Quoidbach, Vinciane;
Giunti, Paola;
Oertel, Wolfgang;
Pastores, Gregory;
Relja, Maja;
Turchetti, Giuseppe;
(2024)
The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review.
Orphanet Journal of Rare Diseases
, 19
, Article 81. 10.1186/s13023-023-03005-9.
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Chelban, V;
Wiethoff, S;
Fabian-Jessing, BK;
Haridy, NA;
Khan, A;
Efthymiou, S;
Becker, EBE;
... Houlden, H; + view all
(2018)
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Movement Disorders
, 33
(7)
pp. 1119-1129.
10.1002/mds.27334.
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Chelban, V;
Wilson, MP;
Warman Chardon, J;
Vandrovcova, J;
Zanetti, MN;
Zamba-Papanicolaou, E;
Efthymiou, S;
... SYNaPS Study Group, .; + view all
(2019)
PDXK mutations cause polyneuropathy responsive to PLP supplementation.
Annals of Neurology
10.1002/ana.25524.
(In press).
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Cook, A;
Boesch, S;
Heck, S;
Brunt, E;
Klockgether, T;
Schöls, L;
Schulz, A;
(2019)
Patient reported outcomes in Friedreich's Ataxia after withdrawal from Idebenone.
Acta Neurologica Scandinavica
, 139
(6)
pp. 533-539.
10.1111/ane.13088.
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Cortese, A;
Tozza, S;
Yau, WY;
Rossi, S;
Beecroft, SJ;
Jaunmuktane, Z;
Dyer, Z;
... Reilly, MM; + view all
(2020)
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain
, 143
(2)
pp. 480-490.
10.1093/brain/awz418.
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Currò, Riccardo;
Dominik, Natalia;
Facchini, Stefano;
Vegezzi, Elisa;
Sullivan, Roisin;
Galassi Deforie, Valentina;
Fernández-Eulate, Gorka;
... Cortese, Andrea; + view all
(2024)
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
10.1093/brain/awad436.
(In press).
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Day, BL;
Dakin, CJ;
Peters, A;
Giunti, P;
(2018)
Cerebellar Degeneration Increases Visual Influence on Dynamic Estimates of Verticality.
Current Biology
, 28
(22)
3589-3598.e3.
10.1016/j.cub.2018.09.049.
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de Silva, R;
Greenfield, J;
Cook, A;
Bonney, H;
Vallortigara, J;
Hunt, B;
Giunti, P;
(2019)
Guidelines on the diagnosis and management of the progressive ataxias.
Orphanet Journal of Rare Diseases
, 14
, Article 51. 10.1186/s13023-019-1013-9.
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de Silva, RN;
Vallortigara, J;
Greenfield, J;
Hunt, B;
Giunti, P;
Hadjivassiliou, M;
(2019)
Diagnosis and management of progressive ataxia in adults.
Practical Neurology
, 19
(3)
pp. 196-207.
10.1136/practneurol-2018-002096.
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Diallo, A;
Jacobi, H;
Cook, A;
Giunti, P;
Parkinson, MH;
Labrum, R;
Durr, A;
... Tezenas du Montcel, S; + view all
(2019)
Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.
Movement Disorders
, 34
(8)
pp. 1220-1227.
10.1002/mds.27739.
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Diallo, A;
Jacobi, H;
Cook, A;
Labrum, R;
Durr, A;
Brice, A;
Charles, P;
... du Montcel, ST; + view all
(2018)
Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.
The Lancet Neurology
, 17
(4)
pp. 327-334.
10.1016/S1474-4422(18)30042-5.
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Diallo, A;
Jacobi, H;
Schmitz-Hübsch, T;
Cook, A;
Labrum, R;
Durr, A;
Brice, A;
... Tezenas du Montcel, S; + view all
(2017)
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression.
Movement Disorders Clinical Practice
, 4
(5)
pp. 689-697.
10.1002/mdc3.12522.
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Duncan, EJ;
Lariviere, R;
Bradshaw, TY;
Longo, F;
Sgarioto, N;
Hayes, MJ;
Romano, LEL;
... Chapple, JP; + view all
(2017)
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
Human Molecular Genetics
, 26
(16)
pp. 3130-3143.
10.1093/hmg/ddx197.
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Erdinc, Direnis;
Rodríguez-Luis, Alejandro;
Fassad, Mahmoud R;
Mackenzie, Sarah;
Watson, Christopher M;
Valenzuela, Sebastian;
Xie, Xie;
... Nicholls, Thomas J; + view all
(2023)
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
EMBO Molecular Medicine
, Article e16775. 10.15252/emmm.202216775.
(In press).
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Faber, J;
Kügler, D;
Bahrami, E;
Heinz, LS;
Timmann, D;
Ernst, TM;
Deike-Hofmann, K;
... Reuter, M; + view all
(2022)
CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation.
NeuroImage
, 264
, Article 119703. 10.1016/j.neuroimage.2022.119703.
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Faber, Jennifer;
Berger, Moritz;
Wilke, Carlo;
Hubener-Schmid, Jeannette;
Schaprian, Tamara;
Santana, Magda M;
Grobe-Einsler, Marcus;
... Klockgether, Thomas; + view all
(2024)
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Annals of Neurology
, 95
(2)
pp. 400-406.
10.1002/ana.26824.
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Faber, J;
Schaprian, T;
Berkan, K;
Reetz, K;
Franca, MC;
Rezende, TJR;
Hong, J;
... Klockgether, T; + view all
(2021)
Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.
Movement Disorders
10.1002/mds.28610.
(In press).
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Ferreira, Mónica;
Schaprian, Tamara;
Kügler, David;
Reuter, Martin;
Deike-Hoffmann, Katharina;
Timmann, Dagmar;
Ernst, Thomas M;
... Faber, Jennifer; + view all
(2024)
Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration.
Cerebellum
10.1007/s12311-024-01659-0.
(In press).
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Fratta, P;
Collins, T;
Devoy, A;
Fisher, EMC;
Nethisinghe, S;
Giunti, P;
Hanna, MG;
... Sweeney, MG; + view all
(2014)
Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.
Neurobiology of Aging
, 35
(2)
443.e1-443.e3.
10.1016/j.neurobiolaging.2013.07.015.
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Frison, M;
Faccenda, D;
Abeti, R;
Rigon, M;
Strobbe, D;
England-Rendon, BS;
Cash, D;
... Campanella, M; + view all
(2021)
The translocator protein (TSPO) is prodromal to mitophagy loss in neurotoxicity.
Molecular Psychiatry
10.1038/s41380-021-01050-z.
(In press).
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Garcia-Moreno, Hector;
Langbehn, Douglas R;
Abiona, Adesoji;
Garrood, Isabel;
Fleszar, Zofia;
Manes, Marta Antonia;
Morley, Ana M Susana;
... Giunti, Paola; + view all
(2023)
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Brain
, 146
(12)
pp. 5044-5059.
10.1093/brain/awad266.
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Garcia-Moreno, Hector;
Prudencio, Mercedes;
Thomas-Black, Gilbert;
Solanky, Nita;
Jansen-West, Karen R;
Hanna Al-Shaikh, Rana;
Heslegrave, Amanda;
... Giunti, Paola; + view all
(2022)
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3.
European Journal of Neurology
, 29
(8)
pp. 2439-2452.
10.1111/ene.15373.
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Garcia-Moreno, H;
Fassihi, H;
Sarkany, RPE;
Phukan, J;
Warner, T;
Lehmann, AR;
Giunti, P;
(2018)
Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.
Annals of Clinical and Translational Neurology
, 5
(1)
pp. 102-108.
10.1002/acn3.511.
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Ghorbani, M;
Pousset, F;
Tucker, A;
Swift, S;
Giunti, P;
Parkinson, M;
Gilbert, D;
... Payne, A; + view all
(2019)
Analysis of Friedreich's ataxia patient clinical data reveals importance of accurate GAA repeat determination in disease prognosis and gender differences in cardiac measures.
Informatics in Medicine Unlocked
, 17
, Article 100266. 10.1016/j.imu.2019.100266.
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Giunti, P;
Cook, A;
(2017)
Friedreich's ataxia: clinical features, pathogenesis and management.
British Medical Bulletin
, 124
(1)
pp. 19-30.
10.1093/bmb/ldx034.
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Giunti, P;
Mantuano, E;
Frontali, M;
(2020)
Episodic ataxias: Faux or real?
International Journal of Molecular Sciences
, 21
(18)
, Article 6472. 10.3390/ijms21186472.
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Giunti, P;
Mantuano, E;
Frontali, M;
Veneziano, L;
(2015)
Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.
Frontiers of Cellular Neuroscience
, 9
, Article 36. 10.3389/fncel.2015.00036.
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Giunti, P;
Morris, S;
Relja, M;
Pastores, G;
Quoidbach, V;
(2019)
Toward earlier diagnosis and treatment of rare neurological disorders: the value of coordinated care and specialist centers.
Croatian Medical Journal
, 60
(2)
pp. 156-157.
10.3325/cmj.2019.60.156.
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Hayer, SN;
Liepelt, I;
Barro, C;
Wilke, C;
Kuhle, J;
Martus, P;
Schoels, L;
... Bertini, E; + view all
(2020)
NfL and pNfH are increased in Friedreich's ataxia.
Journal of Neurology
, 267
pp. 1420-1430.
10.1007/s00415-020-09722-6.
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Hendriksz, CJ;
Anheim, M;
Bauer, P;
Bonnot, O;
Chakrapani, A;
Corvol, J-C;
de Koning, TJ;
... Kolb, SA; + view all
(2017)
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Current Medical Research and Opinion
, 33
(5)
pp. 877-890.
10.1080/03007995.2017.1294054.
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Hengel, H;
Martus, P;
Faber, J;
Garcia-Moreno, H;
Solanky, N;
Giunti, P;
Klockgether, T;
... Schöls, L; + view all
(2021)
Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.
Movement Disorders
10.1002/mds.28844.
(In press).
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Hohenfeld, C;
Terstiege, U;
Dogan, I;
Giunti, P;
Parkinson, MH;
Mariotti, C;
Nanetti, L;
... Reetz, K; + view all
(2022)
Prediction of the disease course in Friedreich ataxia.
Scientific Reports
, 12
, Article 19173. 10.1038/s41598-022-23666-z.
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Hübener-Schmid, J;
Kuhlbrodt, K;
Peladan, J;
Faber, J;
Santana, MM;
Hengel, H;
Jacobi, H;
... Riess, O; + view all
(2021)
Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood.
Movement Disorders
10.1002/mds.28749.
(In press).
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Indelicato, E;
Reetz, K;
Maier, S;
Nachbauer, W;
Amprosi, M;
Giunti, P;
Mariotti, C;
... Boesch, S; + view all
(2023)
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study.
Movement Disorders
10.1002/mds.29687.
(In press).
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Indelicato, E;
Nachbauer, W;
Eigentler, A;
Amprosi, M;
Matteucci Gothe, R;
Giunti, P;
Mariotti, C;
... EFACTS (European Friedreich’s Ataxia Consortium for Translationa; + view all
(2020)
Onset features and time to diagnosis in Friedreich's Ataxia.
Orphanet Journal of Rare Diseases
, 15
, Article 198. 10.1186/s13023-020-01475-9.
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Jacobi, H;
Tezenas du Montcel, S;
Bauer, P;
Giunti, P;
Cook, A;
Labrum, R;
Parkinson, MH;
... Klockgether, T; + view all
(2018)
Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.
Journal of Neurology
, 265
(9)
pp. 2040-2051.
10.1007/s00415-018-8954-0.
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Joffily, L;
Simonyan, S;
Giunti, P;
Tarnutzer, AA;
Koohi, N;
Kaski, D;
(2025)
Vestibular Loss and Cerebellar Ataxia: A Practical Approach.
Ear and Hearing
10.1097/AUD.0000000000001708.
(In press).
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Kimber, Rebecca;
Hart, Genny;
Ladyman, Emma;
Richmond, Jane;
Giunti, Paola;
(2023)
Multidisciplinary Management of Progressive Ataxia.
Advances in Clinical Neuroscience & Rehabilitation
, 22
(2)
pp. 17-19.
10.47795/vgop7444.
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Koohi, N;
Thomas-Black, G;
Giunti, P;
Bamiou, D-E;
(2021)
Auditory Phenotypic Variability in Friedreich's Ataxia Patients.
Cerebellum
10.1007/s12311-021-01236-9.
(In press).
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Lad, M;
Parkinson, MH;
Rai, M;
Pandolfo, M;
Bogdanova-Mihaylova, P;
Walsh, RA;
Murphy, S;
... Giunti, P; + view all
(2017)
Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia.
Orphanet Journal of Rare Diseases
, 12
, Article 158. 10.1186/s13023-017-0709-y.
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Lauerer, Marilena;
Faber, Jennifer;
Casadei, Nicolas;
Santana, Magda M;
Auburger, Georg;
Pogoda, Michaela;
Admard, Jakob;
... ESMI study group; + view all
(2025)
Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis.
Acta Neuropathologica Communications
, 13
(1)
, Article 157. 10.1186/s40478-025-02074-0.
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Lynch, David R;
Chin, Melanie P;
Boesch, Sylvia;
Delatycki, Martin B;
Giunti, Paola;
Goldsberry, Angie;
Hoyle, J Chad;
... Meyer, Colin J; + view all
(2022)
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.
Movement Disorders
10.1002/mds.29286.
(In press).
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Lynch, David R;
Goldsberry, Angie;
Rummey, Christian;
Farmer, Jennifer;
Boesch, Sylvia;
Delatycki, Martin B;
Giunti, Paola;
... Meyer, Colin; + view all
(2023)
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
Annals of Clinical and Translational Neurology
10.1002/acn3.51897.
(In press).
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Lynch, DR;
Chin, MP;
Delatycki, MB;
Subramony, SH;
Corti, M;
Hoyle, JC;
Boesch, S;
... Meyer, CJ; + view all
(2021)
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
Annals of Neurology
, 89
(2)
pp. 212-225.
10.1002/ana.25934.
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Lynch, DR;
Goldsberry, A;
Rummey, C;
Farmer, J;
Boesch, S;
Delatycki, MB;
Giunti, P;
... Meyer, C; + view all
(2025)
Propensity-matched analysis comparing omaveloxolone treatment to Friedreich ataxia natural history data: a plain language summary.
Future Neurology
, 20
(1)
, Article 2524313. 10.1080/14796708.2025.2524313.
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Lynch, DR;
Farmer, J;
Hauser, L;
Blair, IA;
Wang, QQ;
Mesaros, C;
Snyder, N;
... Meyer, C; + view all
(2018)
Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.
Annals of Clinical and Translational Neurology
10.1002/acn3.660.
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Maas, Roderick PPWM;
Teerenstra, Steven;
Lima, Manuela;
Pires, Paula;
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Marques, W;
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Characterization of The Brazilian ARSACS Phenotype: Clinical, Ophthalmological, Neuroimaging, and Genetic Features of Fourteen Cases.
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Binaural Speech Processing, Temporal Resolution and Reported Hearing Difficulties in Genetically Confirmed Friedreich’s Ataxia Patients.
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