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Items: 1 to 50 of 147

1.

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

Diallo A, Jacobi H, Cook A, Giunti P, Parkinson MH, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Castaldo A, Rakowicz M, Rola R, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Nachbauer W, Pandolfo M, Schulz JB, Bauer P, Jun-Suk K, Klockgether T, Tezenas du Montcel S.

Mov Disord. 2019 Aug;34(8):1220-1227. doi: 10.1002/mds.27739. Epub 2019 Jun 18.

PMID:
31211461
2.

Peripapillary retinal nerve fibre layer thickness in Friedreich's ataxia: a biomarker for trials?

Thomas-Black GJ, Parkinson MH, Bremner F, Giunti P.

Brain. 2019 Jun 1;142(6):e23. doi: 10.1093/brain/awz117. No abstract available.

PMID:
31081508
3.

Diagnosis and management of progressive ataxia in adults.

de Silva RN, Vallortigara J, Greenfield J, Hunt B, Giunti P, Hadjivassiliou M.

Pract Neurol. 2019 Jun;19(3):196-207. doi: 10.1136/practneurol-2018-002096. Epub 2019 May 2. Review.

4.

Toward earlier diagnosis and treatment of rare neurological disorders: the value of coordinated care and specialist centers.

Giunti P, Morris S, Relja M, Pastores G, Quoidbach V.

Croat Med J. 2019 Apr 30;60(2):156-157. No abstract available.

5.

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

Cook A, Boesch S, Heck S, Brunt E, Klockgether T, Schöls L, Schulz A, Giunti P.

Acta Neurol Scand. 2019 Jun;139(6):533-539. doi: 10.1111/ane.13088. Epub 2019 Apr 8.

PMID:
30887496
6.

Guidelines on the diagnosis and management of the progressive ataxias.

de Silva R, Greenfield J, Cook A, Bonney H, Vallortigara J, Hunt B, Giunti P.

Orphanet J Rare Dis. 2019 Feb 20;14(1):51. doi: 10.1186/s13023-019-1013-9. Review.

7.

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

Lynch DR, Farmer J, Hauser L, Blair IA, Wang QQ, Mesaros C, Snyder N, Boesch S, Chin M, Delatycki MB, Giunti P, Goldsberry A, Hoyle C, McBride MG, Nachbauer W, O'Grady M, Perlman S, Subramony SH, Wilmot GR, Zesiewicz T, Meyer C.

Ann Clin Transl Neurol. 2018 Nov 10;6(1):15-26. doi: 10.1002/acn3.660. eCollection 2019 Jan.

8.

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.

Rezende Filho FM, Parkinson MH, Pedroso JL, Poh R, Faber I, Lourenço CM, Júnior WM, França Junior MC, Kok F, Sallum JMF, Giunti P, Barsottini OGP.

Parkinsonism Relat Disord. 2019 May;62:148-155. doi: 10.1016/j.parkreldis.2018.12.024. Epub 2018 Dec 23.

PMID:
30638817
9.

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.

Nethisinghe S, Lim WN, Ging H, Zeitlberger A, Abeti R, Pemble S, Sweeney MG, Labrum R, Cervera C, Houlden H, Rosser E, Limousin P, Kennedy A, Lunn MP, Bhatia KP, Wood NW, Hardy J, Polke JM, Veneziano L, Brusco A, Davis MB, Giunti P.

Front Cell Neurosci. 2018 Nov 23;12:429. doi: 10.3389/fncel.2018.00429. eCollection 2018.

10.

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare.

Al-Mahdawi S, Ging H, Bayot A, Cavalcanti F, La Cognata V, Cavallaro S, Giunti P, Pook MA.

Front Cell Neurosci. 2018 Nov 21;12:443. doi: 10.3389/fncel.2018.00443. eCollection 2018.

11.

Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms.

Abeti R, Zeitlberger A, Peelo C, Fassihi H, Sarkany RPE, Lehmann AR, Giunti P.

Br J Pharmacol. 2018 Nov 30. doi: 10.1111/bph.14557. [Epub ahead of print] Review.

PMID:
30499105
12.

Plasma Markers of Neurodegeneration Are Raised in Friedreich's Ataxia.

Zeitlberger AM, Thomas-Black G, Garcia-Moreno H, Foiani M, Heslegrave AJ, Zetterberg H, Giunti P.

Front Cell Neurosci. 2018 Oct 30;12:366. doi: 10.3389/fncel.2018.00366. eCollection 2018.

13.

Cerebellar Degeneration Increases Visual Influence on Dynamic Estimates of Verticality.

Dakin CJ, Peters A, Giunti P, Day BL.

Curr Biol. 2018 Nov 19;28(22):3589-3598.e3. doi: 10.1016/j.cub.2018.09.049. Epub 2018 Nov 1.

PMID:
30393031
14.

Calcium Deregulation: Novel Insights to Understand Friedreich's Ataxia Pathophysiology.

Abeti R, Brown AF, Maiolino M, Patel S, Giunti P.

Front Cell Neurosci. 2018 Oct 2;12:264. doi: 10.3389/fncel.2018.00264. eCollection 2018.

15.

PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption.

Nethisinghe S, Pigazzini ML, Pemble S, Sweeney MG, Labrum R, Manso K, Moore D, Warner J, Davis MB, Giunti P.

Front Cell Neurosci. 2018 Jul 31;12:200. doi: 10.3389/fncel.2018.00200. eCollection 2018.

16.

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).

Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, Rodríguez de Rivera Garrido FJ, Schöls L, Giordano I, Bürk K, Pandolfo M, Schulz JB; EFACTS Study Group.

Neurology. 2018 Sep 4;91(10):e917-e930. doi: 10.1212/WNL.0000000000006121. Epub 2018 Aug 10.

PMID:
30097477
17.

Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich's Ataxia Models.

Abeti R, Baccaro A, Esteras N, Giunti P.

Front Cell Neurosci. 2018 Jul 17;12:188. doi: 10.3389/fncel.2018.00188. eCollection 2018.

18.

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

Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Sarro L, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Nachbauer W, Kang JS, Pandolfo M, Schulz JB, Melac AT, Diallo A, Klockgether T.

J Neurol. 2018 Sep;265(9):2040-2051. doi: 10.1007/s00415-018-8954-0. Epub 2018 Jun 29.

PMID:
29959555
19.

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

Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H.

Mov Disord. 2018 Jul;33(7):1119-1129. doi: 10.1002/mds.27334. Epub 2018 Mar 30.

20.

mTOR independent alteration in ULK1 Ser758 phosphorylation following chronic LRRK2 kinase inhibition.

Manzoni C, Mamais A, Dihanich S, Soutar MPM, Plun-Favreau H, Bandopadhyay R, Abeti R, Giunti P, Hardy J, R Cookson M, Tooze SA, Lewis PA.

Biosci Rep. 2018 Apr 20;38(2). pii: BSR20171669. doi: 10.1042/BSR20171669. Print 2018 Apr 26.

21.

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.

Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Kang JS, Klockgether T, Tezenas du Montcel S.

Lancet Neurol. 2018 Apr;17(4):327-334. doi: 10.1016/S1474-4422(18)30042-5. Epub 2018 Mar 13.

PMID:
29553382
22.

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

Parkinson MH, Bartmann AP, Clayton LMS, Nethisinghe S, Pfundt R, Chapple JP, Reilly MM, Manji H, Wood NJ, Bremner F, Giunti P.

Brain. 2018 Apr 1;141(4):989-999. doi: 10.1093/brain/awy028.

PMID:
29538656
23.

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.

Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S, Di Gregorio E, Ferrero M, Filla A, De Michele G, Gellera C, Mariotti C, Nethisinghe S, Giunti P, Stevanin G, Brusco A.

J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17.

PMID:
29462666
24.

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

Garcia-Moreno H, Fassihi H, Sarkany RPE, Phukan J, Warner T, Lehmann AR, Giunti P.

Ann Clin Transl Neurol. 2017 Dec 4;5(1):102-108. doi: 10.1002/acn3.511. eCollection 2018 Jan.

25.

Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.

Wiethoff S, O'Connor E, Haridy NA, Nethisinghe S, Wood N, Giunti P, Bettencourt C, Houlden H.

J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1226-1227. doi: 10.1136/jnnp-2017-317253. Epub 2018 Jan 24. No abstract available.

26.

Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements.

Tanguy Melac A, Mariotti C, Filipovic Pierucci A, Giunti P, Arpa J, Boesch S, Klopstock T, Müller Vom Hagen J, Klockgether T, Bürk K, Schulz JB, Reetz K, Pandolfo M, Durr A, Tezenas du Montcel S; EFACTS group.

J Neurol Neurosurg Psychiatry. 2018 Jun;89(6):559-565. doi: 10.1136/jnnp-2017-316964. Epub 2017 Dec 26.

PMID:
29279305
27.

Friedreich's ataxia: clinical features, pathogenesis and management.

Cook A, Giunti P.

Br Med Bull. 2017 Dec 1;124(1):19-30. doi: 10.1093/bmb/ldx034. Review.

28.

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

Lad M, Parkinson MH, Rai M, Pandolfo M, Bogdanova-Mihaylova P, Walsh RA, Murphy S, Emmanuel A, Panicker J, Giunti P.

Orphanet J Rare Dis. 2017 Sep 26;12(1):158. doi: 10.1186/s13023-017-0709-y.

29.

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression.

Diallo A, Jacobi H, Schmitz-Hübsch T, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Baliko L, Parkinson MH, Kang JS, Klockgether T, Tezenas du Montcel S.

Mov Disord Clin Pract. 2017 Aug 11;4(5):689-697. doi: 10.1002/mdc3.12522. eCollection 2017 Sep-Oct.

30.

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.

Duncan EJ, Larivière R, Bradshaw TY, Longo F, Sgarioto N, Hayes MJ, Romano LEL, Nethisinghe S, Giunti P, Bruntraeger MB, Durham HD, Brais B, Maltecca F, Gentil BJ, Chapple JP.

Hum Mol Genet. 2017 Aug 15;26(16):3130-3143. doi: 10.1093/hmg/ddx197.

31.

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.

Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA.

Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Review.

PMID:
28276873
32.

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.

Reetz K, Dogan I, Hilgers RD, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, de Rivera FJR, Schöls L, Klockgether T, Bürk K, Rai M, Pandolfo M, Schulz JB; EFACTS Study Group.

Lancet Neurol. 2016 Dec;15(13):1346-1354. doi: 10.1016/S1474-4422(16)30287-3. Erratum in: Lancet Neurol. 2017 Dec;16(12 ):954.

PMID:
27839651
33.

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

Moriarty A, Cook A, Hunt H, Adams ME, Cipolotti L, Giunti P.

Orphanet J Rare Dis. 2016 Jun 22;11(1):82. doi: 10.1186/s13023-016-0447-6.

34.

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.

Bradshaw TY, Romano LE, Duncan EJ, Nethisinghe S, Abeti R, Michael GJ, Giunti P, Vermeer S, Chapple JP.

Hum Mol Genet. 2016 Aug 1;25(15):3232-3244. doi: 10.1093/hmg/ddw173. Epub 2016 Jun 10.

35.

'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'.

Abeti R, Parkinson MH, Hargreaves IP, Angelova PR, Sandi C, Pook MA, Giunti P, Abramov AY.

Cell Death Dis. 2016 May 26;7:e2237. doi: 10.1038/cddis.2016.111.

36.

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.

Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP.

Am J Hum Genet. 2016 Apr 7;98(4):763-71. doi: 10.1016/j.ajhg.2016.02.015.

37.

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

Bettencourt C, Hensman-Moss D, Flower M, Wiethoff S, Brice A, Goizet C, Stevanin G, Koutsis G, Karadima G, Panas M, Yescas-Gómez P, García-Velázquez LE, Alonso-Vilatela ME, Lima M, Raposo M, Traynor B, Sweeney M, Wood N, Giunti P; SPATAX Network, Durr A, Holmans P, Houlden H, Tabrizi SJ, Jones L.

Ann Neurol. 2016 Jun;79(6):983-90. doi: 10.1002/ana.24656. Epub 2016 May 6.

38.

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

Fassihi H, Sethi M, Fawcett H, Wing J, Chandler N, Mohammed S, Craythorne E, Morley AM, Lim R, Turner S, Henshaw T, Garrood I, Giunti P, Hedderly T, Abiona A, Naik H, Harrop G, McGibbon D, Jaspers NG, Botta E, Nardo T, Stefanini M, Young AR, Sarkany RP, Lehmann AR.

Proc Natl Acad Sci U S A. 2016 Mar 1;113(9):E1236-45. doi: 10.1073/pnas.1519444113. Epub 2016 Feb 16.

39.

Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies.

Paap BK, Roeske S, Durr A, Schöls L, Ashizawa T, Boesch S, Bunn LM, Delatycki MB, Giunti P, Lehéricy S, Mariotti C, Melegh J, Pandolfo M, Tallaksen CME, Timmann D, Tsuji S, Schulz JB, van de Warrenburg BP, Klockgether T.

Mov Disord Clin Pract. 2016 Feb 11;3(3):230-240. doi: 10.1002/mdc3.12315. eCollection 2016 May-Jun. Review.

40.

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea.

Provenzano C, Zamboni M, Veneziano L, Mantuano E, Garavaglia B, Zorzi G, Pagonabarraga J, Giunti P, Civitareale D.

J Neurol Sci. 2016 Jan 15;360:78-83. doi: 10.1016/j.jns.2015.11.050. Epub 2015 Nov 27.

PMID:
26723978
41.

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, Gurrin LC, Lynch DR, Gelbard S, Durr A, Pousset F, Parkinson M, Labrum R, Giunti P, Perlman SL, Delatycki MB, Evans-Galea MV.

Ann Neurol. 2016 Mar;79(3):485-95. doi: 10.1002/ana.24595.

PMID:
26704351
42.

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study.

Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Kang JS, Pandolfo M, Schulz JB, Molho S, Diallo A, Klockgether T.

Lancet Neurol. 2015 Nov;14(11):1101-8. doi: 10.1016/S1474-4422(15)00202-1. Epub 2015 Sep 13.

PMID:
26377379
43.

Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxia.

Abeti R, Uzun E, Renganathan I, Honda T, Pook MA, Giunti P.

Pharmacol Res. 2015 Sep;99:344-50. doi: 10.1016/j.phrs.2015.05.015. Epub 2015 Jul 2.

PMID:
26141703
44.

Identification of telomere dysfunction in Friedreich ataxia.

Anjomani Virmouni S, Al-Mahdawi S, Sandi C, Yasaei H, Giunti P, Slijepcevic P, Pook MA.

Mol Neurodegener. 2015 Jun 10;10:22. doi: 10.1186/s13024-015-0019-6.

45.

Sensorimotor processing for balance in spinocerebellar ataxia type 6.

Bunn LM, Marsden JF, Voyce DC, Giunti P, Day BL.

Mov Disord. 2015 Aug;30(9):1259-66. doi: 10.1002/mds.26227. Epub 2015 Apr 16.

46.

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.

Giunti P, Mantuano E, Frontali M, Veneziano L.

Front Cell Neurosci. 2015 Feb 16;9:36. doi: 10.3389/fncel.2015.00036. eCollection 2015. Review.

47.

Quantifiable evaluation of cerebellar signs in children.

Filipovic Pierucci A, Mariotti C, Panzeri M, Giunti P, Boesch S, Schulz JB, Pandolfo M, Durr A, Tezenas du Montcel S; EFACTS Study Group.

Neurology. 2015 Mar 24;84(12):1225-32. doi: 10.1212/WNL.0000000000001403. Epub 2015 Feb 25.

PMID:
25716360
48.

A panel of nine cerebrospinal fluid biomarkers may identify patients with atypical parkinsonian syndromes.

Magdalinou NK, Paterson RW, Schott JM, Fox NC, Mummery C, Blennow K, Bhatia K, Morris HR, Giunti P, Warner TT, de Silva R, Lees AJ, Zetterberg H.

J Neurol Neurosurg Psychiatry. 2015 Nov;86(11):1240-7. doi: 10.1136/jnnp-2014-309562. Epub 2015 Jan 14.

49.

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.

Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB.

Lancet Neurol. 2015 Feb;14(2):174-82. doi: 10.1016/S1474-4422(14)70321-7. Epub 2015 Jan 5.

PMID:
25566998
50.

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

Bunn LM, Marsden JF, Giunti P, Day BL.

Clin Rehabil. 2015 Feb;29(2):143-53. doi: 10.1177/0269215514539336. Epub 2014 Jul 31.

PMID:
25082955

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