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Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

Huin V, Barbier M, Bottani A, Lobrinus JA, Clot F, Lamari F, Chat L, Rucheton B, Fluchère F, Auvin S, Myers P, Gelot A, Camuzat A, Caillaud C, Jornéa L, Forlani S, Saracino D, Duyckaerts C, Brice A, Durr A, Le Ber I.

Brain. 2020 Jan 1;143(1):303-319. doi: 10.1093/brain/awz377.


[Anti-sense oligonucleotides RNA therapy in Huntington disease: a great promise and many unknowns].

Durr A.

Med Sci (Paris). 2019 Nov;35(11):834-836. doi: 10.1051/medsci/2019165. Epub 2019 Dec 17. French. No abstract available.


Predictors of Left Ventricular Dysfunction in Friedreich's Ataxia in a 16-Year Observational Study.

Legrand L, Diallo A, Monin ML, Ewenczyk C, Charles P, Isnard R, Vicaut E, Montalescot G, Durr A, Pousset F.

Am J Cardiovasc Drugs. 2019 Oct 25. doi: 10.1007/s40256-019-00375-z. [Epub ahead of print]


Hospitalization Rates and Outcomes among Persons Living with HIV in the Southeastern United States, 1996-2016.

Davy-Mendez T, Napravnik S, Wohl DA, Durr AL, Zakharova O, Farel CE, Eron JJ.

Clin Infect Dis. 2019 Oct 22. pii: ciz1043. doi: 10.1093/cid/ciz1043. [Epub ahead of print]


Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know.

Schwartz M, Brandel JP, Babonneau ML, Boucher C, Schaerer E, Haik S, Laplanche JL, Gargiulo M, Durr A.

Front Genet. 2019 Sep 20;10:895. doi: 10.3389/fgene.2019.00895. eCollection 2019.


A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes.

Ciosi M, Maxwell A, Cumming SA, Hensman Moss DJ, Alshammari AM, Flower MD, Durr A, Leavitt BR, Roos RAC; TRACK-HD team; Enroll-HD team, Holmans P, Jones L, Langbehn DR, Kwak S, Tabrizi SJ, Monckton DG.

EBioMedicine. 2019 Oct;48:568-580. doi: 10.1016/j.ebiom.2019.09.020. Epub 2019 Oct 10.


A neuroscientific approach to increase gender equality.

Schreiweis C, Volle E, Durr A, Auffret A, Delarasse C, George N, Dumont M, Hassan BA, Renier N, Rosso C, Thiebaut de Schotten M, Burguière E, Zujovic V.

Nat Hum Behav. 2019 Dec;3(12):1238-1239. doi: 10.1038/s41562-019-0755-7. No abstract available.


Oral mobility reflects rate of progression in advanced Friedreich's ataxia.

Borel S, Gatignol P, Smail M, Monin ML, Ewenczyk C, Bouccara D, Durr A.

Ann Clin Transl Neurol. 2019 Sep;6(9):1888-1892. doi: 10.1002/acn3.50879. Epub 2019 Aug 25.


KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.

Marchionni E, Méneret A, Keren B, Melki J, Denier C, Durr A, Apartis E, Boespflug-Tanguy O, Mochel F.

Tremor Other Hyperkinet Mov (N Y). 2019 Jul 17;9. doi: 10.7916/tohm.v0.641. eCollection 2019.


Association of CAG Repeats With Long-term Progression in Huntington Disease.

Langbehn DR, Stout JC, Gregory S, Mills JA, Durr A, Leavitt BR, Roos RAC, Long JD, Owen G, Johnson HJ, Borowsky B, Craufurd D, Reilmann R, Landwehrmeyer GB, Scahill RI, Tabrizi SJ; TRACK-HD and Track-On HD Groups.

JAMA Neurol. 2019 Aug 12. doi: 10.1001/jamaneurol.2019.2368. [Epub ahead of print]


ROS promote epigenetic remodeling and cardiac dysfunction in offspring following maternal engineered nanomaterial (ENM) exposure.

Kunovac A, Hathaway QA, Pinti MV, Goldsmith WT, Durr AJ, Fink GK, Nurkiewicz TR, Hollander JM.

Part Fibre Toxicol. 2019 Jun 18;16(1):24. doi: 10.1186/s12989-019-0310-8.


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.


The role of SIRT1 in skeletal muscle function and repair of older mice.

Myers MJ, Shepherd DL, Durr AJ, Stanton DS, Mohamed JS, Hollander JM, Alway SE.

J Cachexia Sarcopenia Muscle. 2019 Aug;10(4):929-949. doi: 10.1002/jcsm.12437. Epub 2019 Jun 14.


Machine-learning to stratify diabetic patients using novel cardiac biomarkers and integrative genomics.

Hathaway QA, Roth SM, Pinti MV, Sprando DC, Kunovac A, Durr AJ, Cook CC, Fink GK, Cheuvront TB, Grossman JH, Aljahli GA, Taylor AD, Giromini AP, Allen JL, Hollander JM.

Cardiovasc Diabetol. 2019 Jun 11;18(1):78. doi: 10.1186/s12933-019-0879-0.


Spastic Paraplegia 4.

Parodi L, Rydning SL, Tallaksen C, Durr A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2003 Apr 17 [updated 2019 Jun 13].


Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A.

Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8.


Combined cerebral atrophy score in Huntington's disease based on atlas-based MRI volumetry: Sample size calculations for clinical trials.

Müller HP, Huppertz HJ, Dreyhaupt J, Ludolph AC, Tabrizi SJ, Roos RAC, Durr A, Landwehrmeyer GB, Kassubek J.

Parkinsonism Relat Disord. 2019 Jun;63:179-184. doi: 10.1016/j.parkreldis.2019.02.004. Epub 2019 Feb 5.


Contemporary Dance Practice Improves Motor Function and Body Representation in Huntington's Disease: A Pilot Study.

Trinkler I, Chéhère P, Salgues J, Monin ML, Tezenas du Montcel S, Khani S, Gargiulo M, Durr A.

J Huntingtons Dis. 2019;8(1):97-110. doi: 10.3233/JHD-180315.


miRNA-378a as a key regulator of cardiovascular health following engineered nanomaterial inhalation exposure.

Hathaway QA, Durr AJ, Shepherd DL, Pinti MV, Brandebura AN, Nichols CE, Kunovac A, Goldsmith WT, Friend SA, Abukabda AB, Fink GK, Nurkiewicz TR, Hollander JM.

Nanotoxicology. 2019 Jun;13(5):644-663. doi: 10.1080/17435390.2019.1570372. Epub 2019 Feb 1.


Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease.

Ward JM, Stoyas CA, Switonski PM, Ichou F, Fan W, Collins B, Wall CE, Adanyeguh I, Niu C, Sopher BL, Kinoshita C, Morrison RS, Durr A, Muotri AR, Evans RM, Mochel F, La Spada AR.

Cell Rep. 2019 Jan 29;26(5):1189-1202.e6. doi: 10.1016/j.celrep.2019.01.028.


Mitochondrial dysfunction in type 2 diabetes mellitus: an organ-based analysis.

Pinti MV, Fink GK, Hathaway QA, Durr AJ, Kunovac A, Hollander JM.

Am J Physiol Endocrinol Metab. 2019 Feb 1;316(2):E268-E285. doi: 10.1152/ajpendo.00314.2018. Epub 2019 Jan 2. Review.


Hemodynamic energy during pulsatile extracorporeal circulation using flexible and rigid arterial tubing: a reassessment.

Dürr A, Kunert A, Albrecht G, Liebold A, Hoenicka M.

Perfusion. 2019 May;34(4):297-302. doi: 10.1177/0267659118819925. Epub 2018 Dec 22.


Postpartum HIV care continuum outcomes in the southeastern USA.

Chen JS, Pence BW, Rahangdale L, Patterson KB, Farel CE, Durr AL, Antono AC, Zakharova O, Eron JJ, Napravnik S.

AIDS. 2019 Mar 15;33(4):637-644. doi: 10.1097/QAD.0000000000002094.


Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.

Parodi L, Fenu S, Barbier M, Banneau G, Duyckaerts C, Tezenas du Montcel S, Monin ML, Ait Said S, Guegan J, Tallaksen CME, Sablonniere B, Brice A, Stevanin G, Depienne C, Durr A; SPATAX network.

Brain. 2018 Dec 1;141(12):3331-3342. doi: 10.1093/brain/awy285.


Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view.

Coarelli G, Brice A, Durr A.

F1000Res. 2018 Nov 12;7. pii: F1000 Faculty Rev-1781. doi: 10.12688/f1000research.15788.1. eCollection 2018. Review.


Altered Intracortical T1-Weighted/T2-Weighted Ratio Signal in Huntington's Disease.

Rowley CD, Tabrizi SJ, Scahill RI, Leavitt BR, Roos RAC, Durr A, Bock NA.

Front Neurosci. 2018 Nov 5;12:805. doi: 10.3389/fnins.2018.00805. eCollection 2018.


Executive impairment is associated with unawareness of neuropsychiatric symptoms in premanifest and early Huntington's disease.

Andrews SC, Craufurd D, Durr A, Leavitt BR, Roos RA, Tabrizi SJ, Stout JC.

Neuropsychology. 2018 Nov;32(8):958-965. doi: 10.1037/neu0000479. Epub 2018 Sep 13.


Reverse pre-symptomatic testing for Huntington disease: double disclosure when 25% at-risk children reveal the genetic status to their parent.

Bonnard A, Herson A, Gargiulo M, Durr A.

Eur J Hum Genet. 2019 Jan;27(1):22-27. doi: 10.1038/s41431-018-0255-7. Epub 2018 Sep 11.


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.


In vivo characterization of white matter pathology in premanifest huntington's disease.

Zhang J, Gregory S, Scahill RI, Durr A, Thomas DL, Lehericy S, Rees G, Tabrizi SJ, Zhang H; TrackOn-HD investigators.

Ann Neurol. 2018 Oct;84(4):497-504. doi: 10.1002/ana.25309. Epub 2018 Sep 15.


Apathy and atrophy of subcortical brain structures in Huntington's disease: A two-year follow-up study.

Baake V, Coppen EM, van Duijn E, Dumas EM, van den Bogaard SJA, Scahill RI, Johnson H, Leavitt B, Durr A, Tabrizi SJ, Craufurd D, Roos RAC; Track-HD investigators.

Neuroimage Clin. 2018 Mar 27;19:66-70. doi: 10.1016/j.nicl.2018.03.033. eCollection 2018.


Synthesis and applications of highly functionalized 1-halo-3-substituted bicyclo[1.1.1]pentanes.

Caputo DFJ, Arroniz C, Dürr AB, Mousseau JJ, Stepan AF, Mansfield SJ, Anderson EA.

Chem Sci. 2018 May 21;9(23):5295-5300. doi: 10.1039/c8sc01355a. eCollection 2018 Jun 21.


Implementation of the North Carolina HIV Bridge Counseling Program to Facilitate Linkage and Reengagement in Care for Individuals Infected with HIV/AIDS.

Swygard H, Seña AC, Mobley V, Clymore J, Sampson L, Glenn K, Keller JE, Donovan J, Berger MB, Durr A, Klein E, Sullivan KA, Quinlivan EB.

N C Med J. 2018 Jul-Aug;79(4):210-217. doi: 10.18043/ncm.79.4.210.


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.


Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration.

Boutry M, Branchu J, Lustremant C, Pujol C, Pernelle J, Matusiak R, Seyer A, Poirel M, Chu-Van E, Pierga A, Dobrenis K, Puech JP, Caillaud C, Durr A, Brice A, Colsch B, Mochel F, El Hachimi KH, Stevanin G, Darios F.

Cell Rep. 2018 Jun 26;23(13):3813-3826. doi: 10.1016/j.celrep.2018.05.098.


Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes.

Adanyeguh IM, Perlbarg V, Henry PG, Rinaldi D, Petit E, Valabregue R, Brice A, Durr A, Mochel F.

Neuroimage Clin. 2018 Jun 14;19:858-867. doi: 10.1016/j.nicl.2018.06.011. eCollection 2018.


Hereditary ataxias and paraparesias: clinical and genetic update.

Parodi L, Coarelli G, Stevanin G, Brice A, Durr A.

Curr Opin Neurol. 2018 Aug;31(4):462-471. doi: 10.1097/WCO.0000000000000585. Review.


Testing a longitudinal compensation model in premanifest Huntington's disease.

Gregory S, Long JD, Klöppel S, Razi A, Scheller E, Minkova L, Johnson EB, Durr A, Roos RAC, Leavitt BR, Mills JA, Stout JC, Scahill RI, Tabrizi SJ, Rees G; Track-On investigators.

Brain. 2018 Jul 1;141(7):2156-2166. doi: 10.1093/brain/awy122.


The genetic nomenclature of recessive cerebellar ataxias.

Rossi M, Anheim M, Durr A, Klein C, Koenig M, Synofzik M, Marras C, van de Warrenburg BP; International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders.

Mov Disord. 2018 Jul;33(7):1056-1076. doi: 10.1002/mds.27415. Epub 2018 May 14. Review.


Mitochondrial proteome disruption in the diabetic heart through targeted epigenetic regulation at the mitochondrial heat shock protein 70 (mtHsp70) nuclear locus.

Shepherd DL, Hathaway QA, Nichols CE, Durr AJ, Pinti MV, Hughes KM, Kunovac A, Stine SM, Hollander JM.

J Mol Cell Cardiol. 2018 Jun;119:104-115. doi: 10.1016/j.yjmcc.2018.04.016. Epub 2018 May 4.


Natural biological variation of white matter microstructure is accentuated in Huntington's disease.

Gregory S, Crawford H, Seunarine K, Leavitt B, Durr A, Roos RAC, Scahill RI, Tabrizi SJ, Rees G, Langbehn D, Orth M.

Hum Brain Mapp. 2018 Sep;39(9):3516-3527. doi: 10.1002/hbm.24191. Epub 2018 Apr 22.


Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia.

Giraudet F, Charles P, Mom T, Boespflug-Tanguy O, Dürr A, Deltenre P, Avan P.

Clin Neurophysiol. 2018 Jun;129(6):1121-1129. doi: 10.1016/j.clinph.2018.03.005. Epub 2018 Mar 27.


Spinocerebellar Ataxia Type 28.

Brussino A, Brusco A, Durr A, Mancini C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2011 May 17 [updated 2018 Mar 22].


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.


Cross-sectional and longitudinal voxel-based grey matter asymmetries in Huntington's disease.

Minkova L, Gregory S, Scahill RI, Abdulkadir A, Kaller CP, Peter J, Long JD, Stout JC, Reilmann R, Roos RA, Durr A, Leavitt BR, Tabrizi SJ, Klöppel S; TRACK-HD Investigators.

Neuroimage Clin. 2017 Oct 25;17:312-324. doi: 10.1016/j.nicl.2017.10.023. eCollection 2018.


Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network.

JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121.


Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.

Newton T, Allison R, Edgar JR, Lumb JH, Rodger CE, Manna PT, Rizo T, Kohl Z, Nygren AOH, Arning L, Schüle R, Depienne C, Goldberg L, Frahm C, Stevanin G, Durr A, Schöls L, Winner B, Beetz C, Reid E.

Brain. 2018 May 1;141(5):1286-1299. doi: 10.1093/brain/awy034.


Reply: Updated frequency analysis of spinocerebellar ataxia in China.

Coutelier M, Brice A, Stevanin G, Durr A.

Brain. 2018 Apr 1;141(4):e23. doi: 10.1093/brain/awy018. No abstract available.


Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.

Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Löhr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B.

Neurol Genet. 2018 Jan 19;4(1):e209. doi: 10.1212/NXG.0000000000000209. eCollection 2018 Feb.


Neurofilament light protein in blood predicts regional atrophy in Huntington disease.

Johnson EB, Byrne LM, Gregory S, Rodrigues FB, Blennow K, Durr A, Leavitt BR, Roos RA, Zetterberg H, Tabrizi SJ, Scahill RI, Wild EJ; TRACK-HD Study Group.

Neurology. 2018 Feb 20;90(8):e717-e723. doi: 10.1212/WNL.0000000000005005. Epub 2018 Jan 24.

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