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Items: 1 to 50 of 261

1.

Effect of medicaments used in endodontic regeneration on the morphological characteristics of bovine radicular dentin: Experimental immature tooth model.

Conte MC, da Silveira Teixeira C, Bortoluzzi EA, Felippe WT, Dos Santos LGP, Pandolfo MT, da Agostim Cancelier P, da Fonseca Roberti Garcia L.

Microsc Res Tech. 2019 Dec 2. doi: 10.1002/jemt.23421. [Epub ahead of print]

PMID:
31789473
2.

Genetic architecture of subcortical brain structures in 38,851 individuals.

Satizabal CL, Adams HHH, Hibar DP, White CC, Knol MJ, Stein JL, Scholz M, Sargurupremraj M, Jahanshad N, Roshchupkin GV, Smith AV, Bis JC, Jian X, Luciano M, Hofer E, Teumer A, van der Lee SJ, Yang J, Yanek LR, Lee TV, Li S, Hu Y, Koh JY, Eicher JD, Desrivières S, Arias-Vasquez A, Chauhan G, Athanasiu L, Rentería ME, Kim S, Hoehn D, Armstrong NJ, Chen Q, Holmes AJ, den Braber A, Kloszewska I, Andersson M, Espeseth T, Grimm O, Abramovic L, Alhusaini S, Milaneschi Y, Papmeyer M, Axelsson T, Ehrlich S, Roiz-Santiañez R, Kraemer B, Håberg AK, Jones HJ, Pike GB, Stein DJ, Stevens A, Bralten J, Vernooij MW, Harris TB, Filippi I, Witte AV, Guadalupe T, Wittfeld K, Mosley TH, Becker JT, Doan NT, Hagenaars SP, Saba Y, Cuellar-Partida G, Amin N, Hilal S, Nho K, Mirza-Schreiber N, Arfanakis K, Becker DM, Ames D, Goldman AL, Lee PH, Boomsma DI, Lovestone S, Giddaluru S, Le Hellard S, Mattheisen M, Bohlken MM, Kasperaviciute D, Schmaal L, Lawrie SM, Agartz I, Walton E, Tordesillas-Gutierrez D, Davies GE, Shin J, Ipser JC, Vinke LN, Hoogman M, Jia T, Burkhardt R, Klein M, Crivello F, Janowitz D, Carmichael O, Haukvik UK, Aribisala BS, Schmidt H, Strike LT, Cheng CY, Risacher SL, Pütz B, Fleischman DA, Assareh AA, Mattay VS, Buckner RL, Mecocci P, Dale AM, Cichon S, Boks MP, Matarin M, Penninx BWJH, Calhoun VD, Chakravarty MM, Marquand AF, Macare C, Kharabian Masouleh S, Oosterlaan J, Amouyel P, Hegenscheid K, Rotter JI, Schork AJ, Liewald DCM, de Zubicaray GI, Wong TY, Shen L, Sämann PG, Brodaty H, Roffman JL, de Geus EJC, Tsolaki M, Erk S, van Eijk KR, Cavalleri GL, van der Wee NJA, McIntosh AM, Gollub RL, Bulayeva KB, Bernard M, Richards JS, Himali JJ, Loeffler M, Rommelse N, Hoffmann W, Westlye LT, Valdés Hernández MC, Hansell NK, van Erp TGM, Wolf C, Kwok JBJ, Vellas B, Heinz A, Olde Loohuis LM, Delanty N, Ho BC, Ching CRK, Shumskaya E, Singh B, Hofman A, van der Meer D, Homuth G, Psaty BM, Bastin ME, Montgomery GW, Foroud TM, Reppermund S, Hottenga JJ, Simmons A, Meyer-Lindenberg A, Cahn W, Whelan CD, van Donkelaar MMJ, Yang Q, Hosten N, Green RC, Thalamuthu A, Mohnke S, Hulshoff Pol HE, Lin H, Jack CR Jr, Schofield PR, Mühleisen TW, Maillard P, Potkin SG, Wen W, Fletcher E, Toga AW, Gruber O, Huentelman M, Davey Smith G, Launer LJ, Nyberg L, Jönsson EG, Crespo-Facorro B, Koen N, Greve DN, Uitterlinden AG, Weinberger DR, Steen VM, Fedko IO, Groenewold NA, Niessen WJ, Toro R, Tzourio C, Longstreth WT Jr, Ikram MK, Smoller JW, van Tol MJ, Sussmann JE, Paus T, Lemaître H, Schroeter ML, Mazoyer B, Andreassen OA, Holsboer F, Depondt C, Veltman DJ, Turner JA, Pausova Z, Schumann G, van Rooij D, Djurovic S, Deary IJ, McMahon KL, Müller-Myhsok B, Brouwer RM, Soininen H, Pandolfo M, Wassink TH, Cheung JW, Wolfers T, Martinot JL, Zwiers MP, Nauck M, Melle I, Martin NG, Kanai R, Westman E, Kahn RS, Sisodiya SM, White T, Saremi A, van Bokhoven H, Brunner HG, Völzke H, Wright MJ, van 't Ent D, Nöthen MM, Ophoff RA, Buitelaar JK, Fernández G, Sachdev PS, Rietschel M, van Haren NEM, Fisher SE, Beiser AS, Francks C, Saykin AJ, Mather KA, Romanczuk-Seiferth N, Hartman CA, DeStefano AL, Heslenfeld DJ, Weiner MW, Walter H, Hoekstra PJ, Nyquist PA, Franke B, Bennett DA, Grabe HJ, Johnson AD, Chen C, van Duijn CM, Lopez OL, Fornage M, Wardlaw JM, Schmidt R, DeCarli C, De Jager PL, Villringer A, Debette S, Gudnason V, Medland SE, Shulman JM, Thompson PM, Seshadri S, Ikram MA.

Nat Genet. 2019 Nov;51(11):1624-1636. doi: 10.1038/s41588-019-0511-y. Epub 2019 Oct 21.

PMID:
31636452
3.

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
4.

Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia.

Marty B, Naeije G, Bourguignon M, Wens V, Jousmäki V, Lynch DR, Gaetz W, Goldman S, Hari R, Pandolfo M, De Tiège X.

Neurology. 2019 Jul 9;93(2):e116-e124. doi: 10.1212/WNL.0000000000007750. Epub 2019 Jun 13.

PMID:
31197032
5.

Altered neocortical tactile but preserved auditory early change detection responses in Friedreich ataxia.

Naeije G, Wens V, Bourguignon M, Goldman S, Pandolfo M, De Tiège X.

Clin Neurophysiol. 2019 Aug;130(8):1299-1310. doi: 10.1016/j.clinph.2019.05.003. Epub 2019 May 11.

PMID:
31176929
6.

Coronary Artery Bypass Surgery in Brazil: Analysis of the National Reality Through the BYPASS Registry.

Paez RP, Hossne Junior NA, Santo JADE, Berwanger O, Santos RHN, Kalil RAK, Jatene FB, Cavalcanti AB, Zilli AC, Bettiati LC Jr, Figueira FAMDS, D'Azevedo SSP, Soares MJF, Fernandes MP, Ardito RV, Bogdan RAB, Campagnucci VP, Nakasako D, Rodrigues CG, Rodrigues Junior AB, Cascudo MM, Atik FA, Lima EB, Nina VJDS, Heluy RA, Azeredo LG, Henrique Junior OS, Mendonça JT, Silva KKOG, Pandolfo M, Lima Júnior JD, Faria RM, Santos JGD, Coelho GHB, Pereira SN, Senger R, Buffolo E, Caputi GM, Oliveira JAB, Gomes WJ; BYPASS Registry Study Group.

Braz J Cardiovasc Surg. 2019 Mar-Apr;34(2):142-148. doi: 10.21470/1678-9741-2018-0313.

7.

Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises.

Bonnechère B, Jansen B, Haack I, Omelina L, Feipel V, Van Sint Jan S, Pandolfo M.

J Neuroeng Rehabil. 2018 Oct 4;15(1):87. doi: 10.1186/s12984-018-0430-7.

8.

Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses.

Remiche G, Lukacs Z, Kasper DC, Abramowicz M, Pandolfo M.

J Neuromuscul Dis. 2018;5(4):471-480. doi: 10.3233/JND-180336.

PMID:
30175981
9.

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
10.

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
11.

Losartan prevents the imbalance between renal dopaminergic and renin angiotensin systems induced by fructose overload. l-Dopa/dopamine index as new potential biomarker of renal dysfunction.

Rukavina Mikusic NL, Kouyoumdzian NM, Uceda A, Del Mauro JS, Pandolfo M, Gironacci MM, Puyó AM, Toblli JE, Fernández BE, Choi MR.

Metabolism. 2018 Aug;85:271-285. doi: 10.1016/j.metabol.2018.04.010. Epub 2018 May 1.

PMID:
29727629
12.

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
13.

2017 Year in Review and Message from the Editors to Our Reviewers.

Pulst SM, Johnson NE, Pandolfo M, Roos RP, Vance JM.

Neurol Genet. 2018 Feb 16;4(1):e221. doi: 10.1212/NXG.0000000000000221. eCollection 2018 Feb. No abstract available.

14.

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
15.

Personality and Neuropsychological Profiles in Friedreich Ataxia.

Sayah S, Rotgé JY, Francisque H, Gargiulo M, Czernecki V, Justo D, Lahlou-Laforet K, Hahn V, Pandolfo M, Pelissolo A, Fossati P, Durr A.

Cerebellum. 2018 Apr;17(2):204-212. doi: 10.1007/s12311-017-0890-5.

PMID:
29086357
16.

A recessive ataxia diagnosis algorithm for the next generation sequencing era.

Renaud M, Tranchant C, Martin JVT, Mochel F, Synofzik M, van de Warrenburg B, Pandolfo M, Koenig M, Kolb SA, Anheim M; RADIAL Working Group.

Ann Neurol. 2017 Dec;82(6):892-899. doi: 10.1002/ana.25084. Epub 2017 Nov 21.

PMID:
29059497
17.

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.

18.

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.

19.

This variant alters protein function, but is it pathogenic?

Pandolfo M.

Neurol Genet. 2017 Jul 14;3(4):e173. doi: 10.1212/NXG.0000000000000173. eCollection 2017 Aug. No abstract available.

20.

Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo.

Miller JL, Rai M, Frigon NL, Pandolfo M, Punnonen J, Spencer JR.

Neuropharmacology. 2017 Sep 1;123:34-45. doi: 10.1016/j.neuropharm.2017.05.011. Epub 2017 May 11.

PMID:
28504123
21.

The Brazilian Registry of Adult Patient Undergoing Cardiovascular Surgery, the BYPASS Project: Results of the First 1,722 Patients.

Gomes WJ, Moreira RS, Zilli AC, Bettiati LC Jr, Figueira FAMDS, D' Azevedo SSP, Soares MJF, Fernandes MP, Ardito RV, Bogdan RAB, Campagnucci VP, Nakasako D, Kalil RAK, Rodrigues CG, Rodrigues AB Junior, Cascudo MM, Atik FA, Lima EB, Nina VJDS, Heluy RA, Azeredo LG, Henrique OS Junior, Mendonça JT, Silva KKOG, Pandolfo M, Lima JD Júnior, Faria RM, Santos JG, Paez RP, Coelho GHB, Pereira SN, Senger R, Buffolo E, Caputi GM, Santo JADE, Oliveira JAB, Berwanger O, Cavalcanti AB, Jatene FB.

Braz J Cardiovasc Surg. 2017 Mar-Apr;32(2):71-76. doi: 10.21470/1678-9741-2017-0053. Erratum in: Braz J Cardiovasc Surg. 2017 Sep-Oct;32(5):442.

22.

HLA genotype as a marker of multiple sclerosis prognosis: A pilot study.

Lysandropoulos AP, Mavroudakis N, Pandolfo M, El Hafsi K, van Hecke W, Maertens A, Billiet T, Ribbens A.

J Neurol Sci. 2017 Apr 15;375:348-354. doi: 10.1016/j.jns.2017.02.019. Epub 2017 Feb 16.

PMID:
28320165
23.

2016 in Review and Message from the Editors to our Reviewers.

Pulst SM, Johnson NE, Durr A, Pandolfo M, Roos RP, Vance JM.

Neurol Genet. 2017 Feb 15;3(1):e132. doi: 10.1212/NXG.0000000000000132. eCollection 2017 Feb. No abstract available.

24.

Friedreich ataxia-induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor.

Codazzi F, Hu A, Rai M, Donatello S, Salerno Scarzella F, Mangiameli E, Pelizzoni I, Grohovaz F, Pandolfo M.

Hum Mol Genet. 2016 Nov 15;25(22):4847-4855. doi: 10.1093/hmg/ddw308.

PMID:
28175303
25.

Novel genetic loci associated with hippocampal volume.

Hibar DP, Adams HHH, Jahanshad N, Chauhan G, Stein JL, Hofer E, Renteria ME, Bis JC, Arias-Vasquez A, Ikram MK, Desrivières S, Vernooij MW, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beecham AH, Beiser A, Bernard M, Blanton SH, Bohlken MM, Boks MP, Bralten J, Brickman AM, Carmichael O, Chakravarty MM, Chen Q, Ching CRK, Chouraki V, Cuellar-Partida G, Crivello F, Den Braber A, Doan NT, Ehrlich S, Giddaluru S, Goldman AL, Gottesman RF, Grimm O, Griswold ME, Guadalupe T, Gutman BA, Hass J, Haukvik UK, Hoehn D, Holmes AJ, Hoogman M, Janowitz D, Jia T, Jørgensen KN, Karbalai N, Kasperaviciute D, Kim S, Klein M, Kraemer B, Lee PH, Liewald DCM, Lopez LM, Luciano M, Macare C, Marquand AF, Matarin M, Mather KA, Mattheisen M, McKay DR, Milaneschi Y, Muñoz Maniega S, Nho K, Nugent AC, Nyquist P, Loohuis LMO, Oosterlaan J, Papmeyer M, Pirpamer L, Pütz B, Ramasamy A, Richards JS, Risacher SL, Roiz-Santiañez R, Rommelse N, Ropele S, Rose EJ, Royle NA, Rundek T, Sämann PG, Saremi A, Satizabal CL, Schmaal L, Schork AJ, Shen L, Shin J, Shumskaya E, Smith AV, Sprooten E, Strike LT, Teumer A, Tordesillas-Gutierrez D, Toro R, Trabzuni D, Trompet S, Vaidya D, Van der Grond J, Van der Lee SJ, Van der Meer D, Van Donkelaar MMJ, Van Eijk KR, Van Erp TGM, Van Rooij D, Walton E, Westlye LT, Whelan CD, Windham BG, Winkler AM, Wittfeld K, Woldehawariat G, Wolf C, Wolfers T, Yanek LR, Yang J, Zijdenbos A, Zwiers MP, Agartz I, Almasy L, Ames D, Amouyel P, Andreassen OA, Arepalli S, Assareh AA, Barral S, Bastin ME, Becker DM, Becker JT, Bennett DA, Blangero J, van Bokhoven H, Boomsma DI, Brodaty H, Brouwer RM, Brunner HG, Buckner RL, Buitelaar JK, Bulayeva KB, Cahn W, Calhoun VD, Cannon DM, Cavalleri GL, Cheng CY, Cichon S, Cookson MR, Corvin A, Crespo-Facorro B, Curran JE, Czisch M, Dale AM, Davies GE, De Craen AJM, De Geus EJC, De Jager PL, De Zubicaray GI, Deary IJ, Debette S, DeCarli C, Delanty N, Depondt C, DeStefano A, Dillman A, Djurovic S, Donohoe G, Drevets WC, Duggirala R, Dyer TD, Enzinger C, Erk S, Espeseth T, Fedko IO, Fernández G, Ferrucci L, Fisher SE, Fleischman DA, Ford I, Fornage M, Foroud TM, Fox PT, Francks C, Fukunaga M, Gibbs JR, Glahn DC, Gollub RL, Göring HHH, Green RC, Gruber O, Gudnason V, Guelfi S, Håberg AK, Hansell NK, Hardy J, Hartman CA, Hashimoto R, Hegenscheid K, Heinz A, Le Hellard S, Hernandez DG, Heslenfeld DJ, Ho BC, Hoekstra PJ, Hoffmann W, Hofman A, Holsboer F, Homuth G, Hosten N, Hottenga JJ, Huentelman M, Hulshoff Pol HE, Ikeda M, Jack CR Jr, Jenkinson M, Johnson R, Jönsson EG, Jukema JW, Kahn RS, Kanai R, Kloszewska I, Knopman DS, Kochunov P, Kwok JB, Lawrie SM, Lemaître H, Liu X, Longo DL, Lopez OL, Lovestone S, Martinez O, Martinot JL, Mattay VS, McDonald C, McIntosh AM, McMahon FJ, McMahon KL, Mecocci P, Melle I, Meyer-Lindenberg A, Mohnke S, Montgomery GW, Morris DW, Mosley TH, Mühleisen TW, Müller-Myhsok B, Nalls MA, Nauck M, Nichols TE, Niessen WJ, Nöthen MM, Nyberg L, Ohi K, Olvera RL, Ophoff RA, Pandolfo M, Paus T, Pausova Z, Penninx BWJH, Pike GB, Potkin SG, Psaty BM, Reppermund S, Rietschel M, Roffman JL, Romanczuk-Seiferth N, Rotter JI, Ryten M, Sacco RL, Sachdev PS, Saykin AJ, Schmidt R, Schmidt H, Schofield PR, Sigursson S, Simmons A, Singleton A, Sisodiya SM, Smith C, Smoller JW, Soininen H, Steen VM, Stott DJ, Sussmann JE, Thalamuthu A, Toga AW, Traynor BJ, Troncoso J, Tsolaki M, Tzourio C, Uitterlinden AG, Hernández MCV, Van der Brug M, van der Lugt A, van der Wee NJA, Van Haren NEM, van 't Ent D, Van Tol MJ, Vardarajan BN, Vellas B, Veltman DJ, Völzke H, Walter H, Wardlaw JM, Wassink TH, Weale ME, Weinberger DR, Weiner MW, Wen W, Westman E, White T, Wong TY, Wright CB, Zielke RH, Zonderman AB, Martin NG, Van Duijn CM, Wright MJ, Longstreth WT, Schumann G, Grabe HJ, Franke B, Launer LJ, Medland SE, Seshadri S, Thompson PM, Ikram MA.

Nat Commun. 2017 Jan 18;8:13624. doi: 10.1038/ncomms13624.

26.

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
27.

Novel genetic loci underlying human intracranial volume identified through genome-wide association.

Adams HH, Hibar DP, Chouraki V, Stein JL, Nyquist PA, Rentería ME, Trompet S, Arias-Vasquez A, Seshadri S, Desrivières S, Beecham AH, Jahanshad N, Wittfeld K, Van der Lee SJ, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beiser A, Bernard M, Bis JC, Blanken LM, Blanton SH, Bohlken MM, Boks MP, Bralten J, Brickman AM, Carmichael O, Chakravarty MM, Chauhan G, Chen Q, Ching CR, Cuellar-Partida G, Braber AD, Doan NT, Ehrlich S, Filippi I, Ge T, Giddaluru S, Goldman AL, Gottesman RF, Greven CU, Grimm O, Griswold ME, Guadalupe T, Hass J, Haukvik UK, Hilal S, Hofer E, Hoehn D, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kasperaviciute D, Kim S, Klein M, Kraemer B, Lee PH, Liao J, Liewald DC, Lopez LM, Luciano M, Macare C, Marquand A, Matarin M, Mather KA, Mattheisen M, Mazoyer B, McKay DR, McWhirter R, Milaneschi Y, Mirza-Schreiber N, Muetzel RL, Maniega SM, Nho K, Nugent AC, Loohuis LM, Oosterlaan J, Papmeyer M, Pappa I, Pirpamer L, Pudas S, Pütz B, Rajan KB, Ramasamy A, Richards JS, Risacher SL, Roiz-Santiañez R, Rommelse N, Rose EJ, Royle NA, Rundek T, Sämann PG, Satizabal CL, Schmaal L, Schork AJ, Shen L, Shin J, Shumskaya E, Smith AV, Sprooten E, Strike LT, Teumer A, Thomson R, Tordesillas-Gutierrez D, Toro R, Trabzuni D, Vaidya D, Van der Grond J, Van der Meer D, Van Donkelaar MM, Van Eijk KR, Van Erp TG, Van Rooij D, Walton E, Westlye LT, Whelan CD, Windham BG, Winkler AM, Woldehawariat G, Wolf C, Wolfers T, Xu B, Yanek LR, Yang J, Zijdenbos A, Zwiers MP, Agartz I, Aggarwal NT, Almasy L, Ames D, Amouyel P, Andreassen OA, Arepalli S, Assareh AA, Barral S, Bastin ME, Becker DM, Becker JT, Bennett DA, Blangero J, van Bokhoven H, Boomsma DI, Brodaty H, Brouwer RM, Brunner HG, Buckner RL, Buitelaar JK, Bulayeva KB, Cahn W, Calhoun VD, Cannon DM, Cavalleri GL, Chen C, Cheng CY, Cichon S, Cookson MR, Corvin A, Crespo-Facorro B, Curran JE, Czisch M, Dale AM, Davies GE, De Geus EJ, De Jager PL, de Zubicaray GI, Delanty N, Depondt C, DeStefano AL, Dillman A, Djurovic S, Donohoe G, Drevets WC, Duggirala R, Dyer TD, Erk S, Espeseth T, Evans DA, Fedko IO, Fernández G, Ferrucci L, Fisher SE, Fleischman DA, Ford I, Foroud TM, Fox PT, Francks C, Fukunaga M, Gibbs JR, Glahn DC, Gollub RL, Göring HH, Grabe HJ, Green RC, Gruber O, Gudnason V, Guelfi S, Hansell NK, Hardy J, Hartman CA, Hashimoto R, Hegenscheid K, Heinz A, Le Hellard S, Hernandez DG, Heslenfeld DJ, Ho BC, Hoekstra PJ, Hoffmann W, Hofman A, Holsboer F, Homuth G, Hosten N, Hottenga JJ, Hulshoff Pol HE, Ikeda M, Ikram MK, Jack CR Jr, Jenkinson M, Johnson R, Jönsson EG, Jukema JW, Kahn RS, Kanai R, Kloszewska I, Knopman DS, Kochunov P, Kwok JB, Lawrie SM, Lemaître H, Liu X, Longo DL, Longstreth WT Jr, Lopez OL, Lovestone S, Martinez O, Martinot JL, Mattay VS, McDonald C, McIntosh AM, McMahon KL, McMahon FJ, Mecocci P, Melle I, Meyer-Lindenberg A, Mohnke S, Montgomery GW, Morris DW, Mosley TH, Mühleisen TW, Müller-Myhsok B, Nalls MA, Nauck M, Nichols TE, Niessen WJ, Nöthen MM, Nyberg L, Ohi K, Olvera RL, Ophoff RA, Pandolfo M, Paus T, Pausova Z, Penninx BW, Pike GB, Potkin SG, Psaty BM, Reppermund S, Rietschel M, Roffman JL, Romanczuk-Seiferth N, Rotter JI, Ryten M, Sacco RL, Sachdev PS, Saykin AJ, Schmidt R, Schofield PR, Sigurdsson S, Simmons A, Singleton A, Sisodiya SM, Smith C, Smoller JW, Soininen H, Srikanth V, Steen VM, Stott DJ, Sussmann JE, Thalamuthu A, Tiemeier H, Toga AW, Traynor BJ, Troncoso J, Turner JA, Tzourio C, Uitterlinden AG, Hernández MC, Van der Brug M, Van der Lugt A, Van der Wee NJ, Van Duijn CM, Van Haren NE, Van T Ent D, Van Tol MJ, Vardarajan BN, Veltman DJ, Vernooij MW, Völzke H, Walter H, Wardlaw JM, Wassink TH, Weale ME, Weinberger DR, Weiner MW, Wen W, Westman E, White T, Wong TY, Wright CB, Zielke HR, Zonderman AB, Deary IJ, DeCarli C, Schmidt H, Martin NG, De Craen AJ, Wright MJ, Launer LJ, Schumann G, Fornage M, Franke B, Debette S, Medland SE, Ikram MA, Thompson PM.

Nat Neurosci. 2016 Dec;19(12):1569-1582. doi: 10.1038/nn.4398. Epub 2016 Oct 3.

28.

New Biochemical Parameters in the Differential Diagnosis of Ascitic Fluids.

Angeleri A, Rocher A, Caracciolo B, Pandolfo M, Palaoro L, Perazzi B.

Gastroenterology Res. 2016 Feb;9(1):17-21. Epub 2016 Mar 8.

29.

MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43).

Depondt C, Donatello S, Rai M, Wang FC, Manto M, Simonis N, Pandolfo M.

Neurol Genet. 2016 Aug 18;2(5):e94. doi: 10.1212/NXG.0000000000000094. eCollection 2016 Oct.

30.

Pharmacological treatments for Friedreich ataxia.

Kearney M, Orrell RW, Fahey M, Brassington R, Pandolfo M.

Cochrane Database Syst Rev. 2016 Aug 30;(8):CD007791. doi: 10.1002/14651858.CD007791.pub4. Review.

31.

Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series‎.

Brugger F, Kägi G, Pandolfo M, Mencacci NE, Batla A, Wiethoff S, Bhatia KP.

Mov Disord Clin Pract. 2016 Jul 18;4(2):254-257. doi: 10.1002/mdc3.12393. eCollection 2017 Mar-Apr.

32.

Atrial Natriuretic Peptide Stimulates Dopamine Tubular Transport by Organic Cation Transporters: A Novel Mechanism to Enhance Renal Sodium Excretion.

Kouyoumdzian NM, Rukavina Mikusic NL, Kravetz MC, Lee BM, Carranza A, Del Mauro JS, Pandolfo M, Gironacci MM, Gorzalczany S, Toblli JE, Fernández BE, Choi MR.

PLoS One. 2016 Jul 8;11(7):e0157487. doi: 10.1371/journal.pone.0157487. eCollection 2016.

33.

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.

34.

A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia.

Pousset F, Legrand L, Monin ML, Ewenczyk C, Charles P, Komajda M, Brice A, Pandolfo M, Isnard R, Tezenas du Montcel S, Durr A.

JAMA Neurol. 2015 Nov;72(11):1334-41. doi: 10.1001/jamaneurol.2015.1855.

PMID:
26414159
35.

Delayed-onset Friedreich's ataxia revisited.

Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M.

Mov Disord. 2016 Jan;31(1):62-9. doi: 10.1002/mds.26382. Epub 2015 Sep 21.

PMID:
26388117
36.

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
37.

Adult neural precursor cells form connexin-dependent networks that improve their survival.

Ravella A, Ringstedt T, Brion JP, Pandolfo M, Herlenius E.

Neuroreport. 2015 Oct 21;26(15):928-36. doi: 10.1097/WNR.0000000000000451.

PMID:
26351758
38.

Building bridges between neuroscientific evidence and policy.

Quaglio G, McGuinness M, Rübig P, Nutt D, Karapiperis T, Pandolfo M, Südhof TC.

Lancet Neurol. 2015 Mar;14(3):242-5. doi: 10.1016/S1474-4422(15)70014-1. Epub 2015 Feb 16. No abstract available.

PMID:
25728434
39.

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
40.

Common genetic variants influence human subcortical brain structures.

Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N, Toro R, Wittfeld K, Abramovic L, Andersson M, Aribisala BS, Armstrong NJ, Bernard M, Bohlken MM, Boks MP, Bralten J, Brown AA, Chakravarty MM, Chen Q, Ching CR, Cuellar-Partida G, den Braber A, Giddaluru S, Goldman AL, Grimm O, Guadalupe T, Hass J, Woldehawariat G, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kim S, Klein M, Kraemer B, Lee PH, Olde Loohuis LM, Luciano M, Macare C, Mather KA, Mattheisen M, Milaneschi Y, Nho K, Papmeyer M, Ramasamy A, Risacher SL, Roiz-Santiañez R, Rose EJ, Salami A, Sämann PG, Schmaal L, Schork AJ, Shin J, Strike LT, Teumer A, van Donkelaar MM, van Eijk KR, Walters RK, Westlye LT, Whelan CD, Winkler AM, Zwiers MP, Alhusaini S, Athanasiu L, Ehrlich S, Hakobjan MM, Hartberg CB, Haukvik UK, Heister AJ, Hoehn D, Kasperaviciute D, Liewald DC, Lopez LM, Makkinje RR, Matarin M, Naber MA, McKay DR, Needham M, Nugent AC, Pütz B, Royle NA, Shen L, Sprooten E, Trabzuni D, van der Marel SS, van Hulzen KJ, Walton E, Wolf C, Almasy L, Ames D, Arepalli S, Assareh AA, Bastin ME, Brodaty H, Bulayeva KB, Carless MA, Cichon S, Corvin A, Curran JE, Czisch M, de Zubicaray GI, Dillman A, Duggirala R, Dyer TD, Erk S, Fedko IO, Ferrucci L, Foroud TM, Fox PT, Fukunaga M, Gibbs JR, Göring HH, Green RC, Guelfi S, Hansell NK, Hartman CA, Hegenscheid K, Heinz A, Hernandez DG, Heslenfeld DJ, Hoekstra PJ, Holsboer F, Homuth G, Hottenga JJ, Ikeda M, Jack CR Jr, Jenkinson M, Johnson R, Kanai R, Keil M, Kent JW Jr, Kochunov P, Kwok JB, Lawrie SM, Liu X, Longo DL, McMahon KL, Meisenzahl E, Melle I, Mohnke S, Montgomery GW, Mostert JC, Mühleisen TW, Nalls MA, Nichols TE, Nilsson LG, Nöthen MM, Ohi K, Olvera RL, Perez-Iglesias R, Pike GB, Potkin SG, Reinvang I, Reppermund S, Rietschel M, Romanczuk-Seiferth N, Rosen GD, Rujescu D, Schnell K, Schofield PR, Smith C, Steen VM, Sussmann JE, Thalamuthu A, Toga AW, Traynor BJ, Troncoso J, Turner JA, Valdés Hernández MC, van 't Ent D, van der Brug M, van der Wee NJ, van Tol MJ, Veltman DJ, Wassink TH, Westman E, Zielke RH, Zonderman AB, Ashbrook DG, Hager R, Lu L, McMahon FJ, Morris DW, Williams RW, Brunner HG, Buckner RL, Buitelaar JK, Cahn W, Calhoun VD, Cavalleri GL, Crespo-Facorro B, Dale AM, Davies GE, Delanty N, Depondt C, Djurovic S, Drevets WC, Espeseth T, Gollub RL, Ho BC, Hoffmann W, Hosten N, Kahn RS, Le Hellard S, Meyer-Lindenberg A, Müller-Myhsok B, Nauck M, Nyberg L, Pandolfo M, Penninx BW, Roffman JL, Sisodiya SM, Smoller JW, van Bokhoven H, van Haren NE, Völzke H, Walter H, Weiner MW, Wen W, White T, Agartz I, Andreassen OA, Blangero J, Boomsma DI, Brouwer RM, Cannon DM, Cookson MR, de Geus EJ, Deary IJ, Donohoe G, Fernández G, Fisher SE, Francks C, Glahn DC, Grabe HJ, Gruber O, Hardy J, Hashimoto R, Hulshoff Pol HE, Jönsson EG, Kloszewska I, Lovestone S, Mattay VS, Mecocci P, McDonald C, McIntosh AM, Ophoff RA, Paus T, Pausova Z, Ryten M, Sachdev PS, Saykin AJ, Simmons A, Singleton A, Soininen H, Wardlaw JM, Weale ME, Weinberger DR, Adams HH, Launer LJ, Seiler S, Schmidt R, Chauhan G, Satizabal CL, Becker JT, Yanek L, van der Lee SJ, Ebling M, Fischl B, Longstreth WT Jr, Greve D, Schmidt H, Nyquist P, Vinke LN, van Duijn CM, Xue L, Mazoyer B, Bis JC, Gudnason V, Seshadri S, Ikram MA; Alzheimer’s Disease Neuroimaging Initiative; CHARGE Consortium; EPIGEN; IMAGEN; SYS, Martin NG, Wright MJ, Schumann G, Franke B, Thompson PM, Medland SE.

Nature. 2015 Apr 9;520(7546):224-9. doi: 10.1038/nature14101. Epub 2015 Jan 21.

41.

Prevalence of dyslipidemia and metabolic syndrome risk factor in overweight and obese children.

Casavalle PL, Lifshitz F, Romano LS, Pandolfo M, Caamaño A, Boyer PM, Rodríguez PN, Friedman SM.

Pediatr Endocrinol Rev. 2014 Dec;12(2):213-23.

PMID:
25581987
42.

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
43.

Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia.

Igoillo-Esteve M, Gurgul-Convey E, Hu A, Romagueira Bichara Dos Santos L, Abdulkarim B, Chintawar S, Marselli L, Marchetti P, Jonas JC, Eizirik DL, Pandolfo M, Cnop M.

Hum Mol Genet. 2015 Apr 15;24(8):2274-86. doi: 10.1093/hmg/ddu745. Epub 2014 Dec 30.

PMID:
25552656
44.

Epigenetic therapy for Friedreich ataxia.

Soragni E, Miao W, Iudicello M, Jacoby D, De Mercanti S, Clerico M, Longo F, Piga A, Ku S, Campau E, Du J, Penalver P, Rai M, Madara JC, Nazor K, O'Connor M, Maximov A, Loring JF, Pandolfo M, Durelli L, Gottesfeld JM, Rusche JR.

Ann Neurol. 2014 Oct;76(4):489-508. doi: 10.1002/ana.24260. Epub 2014 Sep 16.

45.

Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

Pandolfo M, Arpa J, Delatycki MB, Le Quan Sang KH, Mariotti C, Munnich A, Sanz-Gallego I, Tai G, Tarnopolsky MA, Taroni F, Spino M, Tricta F.

Ann Neurol. 2014 Oct;76(4):509-21. doi: 10.1002/ana.24248. Epub 2014 Aug 30.

PMID:
25112865
46.

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G.

Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26.

47.

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.

Depondt C, Donatello S, Simonis N, Rai M, van Heurck R, Abramowicz M, D'Hooghe M, Pandolfo M.

Neurology. 2014 May 13;82(19):1749-50. doi: 10.1212/WNL.0000000000000416. Epub 2014 Apr 9.

PMID:
24719489
48.

Transient CNS deficits and migrainous auras in individuals without a history of headache.

Naeije G, Gaspard N, Legros B, Mavroudakis N, Pandolfo M.

Headache. 2014 Mar;54(3):493-9.

PMID:
24673438
49.

Role of angiotensin II and oxidative stress on renal aquaporins expression in hypernatremic rats.

Della Penna SL, Cao G, Kouyoumdzian NM, Sarati L, Fellet A, Balaszczuk AM, Choi MR, Zotta E, Gorzalczany S, Pandolfo M, Toblli JE, Rosón MI, Fernández BE.

J Physiol Biochem. 2014 Jun;70(2):465-78. doi: 10.1007/s13105-014-0324-5. Epub 2014 Mar 4.

PMID:
24590923
50.

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O.

Eur J Neurol. 2014 Apr;21(4):552-62. doi: 10.1111/ene.12341. Epub 2014 Jan 13.

PMID:
24418350

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