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Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia. Sci Rep. 2021 03 18; 11(1):6353.
Sassi C, Capozzo R, Hammer M, Zecca C, Federoff M, Blauwendraat C, Bernstein N, Ding J, Gibbs JR, Price T, Singleton A, Logroscino G. PMID: 33737586.
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Sleep and circadian rhythm disruption is corrected by lithium in a case of bipolar disorder with familial BRCA1 mutation. Bipolar Disord. 2021 Feb; 23(1):101-103.
Federoff M, McCarthy MJ. PMID: 33012081.
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Humans
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Lysosomal storage disorder gene variants in multiple system atrophy. Brain. 2018 07 01; 141(7):e53.
Pihlstrøm L, Schottlaender L, Chelban V, MSA Exome Consortium , Meissner WG, Federoff M, Singleton A, Houlden H. PMID: 29741613.
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5 Fields:
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Humans
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Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia. Orphanet J Rare Dis. 2017 11 02; 12(1):172.
Bettencourt C, Salpietro V, Efthymiou S, Chelban V, Hughes D, Pittman AM, Federoff M, Bourinaris T, Spilioti M, Deretzi G, Kalantzakou T, Houlden H, Singleton AB, Xiromerisiou G. PMID: 29096665.
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6 Fields:
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Humans
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ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies. Mov Disord. 2017 02; 32(2):298-299.
Blauwendraat C, Nalls MA, Federoff M, Pletnikova O, Ding J, Letson C, Geiger JT, Gibbs JR, Hernandez DG, Troncoso JC, Simón-Sánchez J, Scholz SW, International Parkinson's Disease Genomics Consortium . PMID: 27987235.
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5 Fields:
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HumansCells
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A genome-wide association study in multiple system atrophy. Neurology. 2016 Oct 11; 87(15):1591-1598.
Sailer A, Scholz SW, Nalls MA, Schulte C, Federoff M, Price TR, Lees A, Ross OA, Dickson DW, Mok K, Mencacci NE, Schottlaender L, Chelban V, Ling H, O'Sullivan SS, Wood NW, Traynor BJ, Ferrucci L, Federoff HJ, Mhyre TR, Morris HR, Deuschl G, Quinn N, Widner H, Albanese A, Infante J, Bhatia KP, Poewe W, Oertel W, Höglinger GU, Wüllner U, Goldwurm S, Pellecchia MT, Ferreira J, Tolosa E, Bloem BR, Rascol O, Meissner WG, Hardy JA, Revesz T, Holton JL, Gasser T, Wenning GK, Singleton AB, Houlden H, European Multiple System Atrophy Study Group and the UK Multiple System Atrophy Study Group . PMID: 27629089.
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47 Fields:
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Humans
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Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain. 2016 07; 139(Pt 7):1904-18.
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H. PMID: 27217339.
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46 Fields:
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HumansCells
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Genome-wide estimate of the heritability of Multiple System Atrophy. Parkinsonism Relat Disord. 2016 Jan; 22:35-41.
Federoff M, Price TR, Sailer A, Scholz S, Hernandez D, Nicolas A, Singleton AB, Nalls M, Houlden H. PMID: 26589003.
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18 Fields:
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Humans
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Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol Genet. 2015 Jun; 1(1):e9.
Lesage S, Bras J, Cormier-Dequaire F, Condroyer C, Nicolas A, Darwent L, Guerreiro R, Majounie E, Federoff M, Heutink P, Wood NW, Gasser T, Hardy J, Tison F, Singleton A, Brice A, French Parkinson's Disease Genetics Study Group (PDG) and the International Parkinson's Disease Geno . PMID: 27066548.
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Multiple system atrophy: the application of genetics in understanding etiology. Clin Auton Res. 2015 Feb; 25(1):19-36.
Federoff M, Schottlaender LV, Houlden H, Singleton A. PMID: 25687905.
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7 Fields:
Translation:
HumansAnimals
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Mutations in EIF4G1 are not a common cause of Parkinson's disease. Eur J Neurol. 2013 Apr; 20(4):e59.
Siitonen A, Majounie E, Federoff M, Ding J, Majamaa K, Singleton AB. PMID: 23490116.
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6 Fields:
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Humans
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A large study reveals no association between APOE and Parkinson's disease. Neurobiol Dis. 2012 May; 46(2):389-92.
Federoff M, Jimenez-Rolando B, Nalls MA, Singleton AB. PMID: 22349451.
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45 Fields:
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Humans
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Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord. 2010 Sep 15; 25(12):1791-800.
Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, Houlden H. PMID: 20669327.
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91 Fields:
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Humans
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Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet. 2009 Dec; 41(12):1308-12.
Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T. PMID: 19915575.
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806 Fields:
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Humans
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Lack of replication of association between GIGYF2 variants and Parkinson disease. Hum Mol Genet. 2009 Jan 15; 18(2):341-6.
Bras J, Simón-Sánchez J, Federoff M, Morgadinho A, Januario C, Ribeiro M, Cunha L, Oliveira C, Singleton AB. PMID: 18923002.
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PubMed Mentions:
15 Fields:
Translation:
Humans