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Page 1
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
Krohn L, Heilbron K, Blauwendraat C, Reynolds RH, Yu E, Senkevich K, Rudakou U, Estiar MA, Gustavsson EK, Brolin K, Ruskey JA, Freeman K, Asayesh F, Chia R, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B, Stefani A, Ibrahim A, Šonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Biscarini F, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF; 23andMe Research Team; Scholz SW, Ryten M, Bandres-Ciga S, Noyce A, Cannon P, Pihlstrøm L, Nalls MA, Singleton AB, Rouleau GA, Postuma RB, Gan-Or Z. Krohn L, et al. Among authors: estiar ma. Nat Commun. 2022 Dec 5;13(1):7496. doi: 10.1038/s41467-022-34732-5. Nat Commun. 2022. PMID: 36470867 Free PMC article.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR. Hijazi H, et al. Among authors: estiar ma. Am J Hum Genet. 2022 Dec 1;109(12):2270-2282. doi: 10.1016/j.ajhg.2022.10.007. Epub 2022 Nov 10. Am J Hum Genet. 2022. PMID: 36368327 Free PMC article.
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
Rebelo AP, Ruiz A, Dohrn MF, Wayand M, Farooq A, Danzi MC, Beijer D, Aaron B, Vandrovcova J, Houlden H, Matalonga L, Abreu L, Rouleau G, Estiar MA, Van de Vondel L, Gan-Or Z, Baets J, Schüle R, Zuchner S. Rebelo AP, et al. Among authors: estiar ma. Genet Med. 2022 Dec;24(12):2487-2500. doi: 10.1016/j.gim.2022.08.019. Epub 2022 Sep 22. Genet Med. 2022. PMID: 36136088 Free article.
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Paul F, Ng C, Mohamad Sahari UB, Nafissi S, Nilipoor Y, Tavasoli AR, Bonnard C, Wong PM, Nabavizadeh N, Altunoğlu U, Estiar MA, Majoie CB, Lee H, Nelson SF, Gan-Or Z, Rouleau GA, Van Veldhoven PP, Massie R, Hennekam RC, Kariminejad A, Reversade B. Paul F, et al. Among authors: estiar ma. Hum Mol Genet. 2022 Oct 28;31(21):3729-3740. doi: 10.1093/hmg/ddac120. Hum Mol Genet. 2022. PMID: 35652444
Genetic, structural and clinical analysis of spastic paraplegia 4.
Varghaei P, Estiar MA, Ashtiani S, Veyron S, Mufti K, Leveille E, Yu E, Spiegelman D, Rioux MF, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z. Varghaei P, et al. Among authors: estiar ma. Parkinsonism Relat Disord. 2022 May;98:62-69. doi: 10.1016/j.parkreldis.2022.03.019. Epub 2022 Apr 16. Parkinsonism Relat Disord. 2022. PMID: 35487127
Hereditary spastic paraplegia initially diagnosed as cerebral palsy.
Suchowersky O, Ashtiani S, Au PB, McLeod S, Estiar MA, Gan-Or Z, Rouleau GA. Suchowersky O, et al. Among authors: estiar ma. Clin Park Relat Disord. 2021 Nov 3;5:100114. doi: 10.1016/j.prdoa.2021.100114. eCollection 2021. Clin Park Relat Disord. 2021. PMID: 34816117 Free PMC article.
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.
Gilley J, Jackson O, Pipis M, Estiar MA, Al-Chalabi A, Danzi MC, van Eijk KR, Goutman SA, Harms MB, Houlden H, Iacoangeli A, Kaye J, Lima L; Queen Square Genomics; Ravits J, Rouleau GA, Schüle R, Xu J, Züchner S, Cooper-Knock J, Gan-Or Z, Reilly MM, Coleman MP. Gilley J, et al. Among authors: estiar ma. Elife. 2021 Nov 19;10:e70905. doi: 10.7554/eLife.70905. Elife. 2021. PMID: 34796871 Free PMC article.
Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder.
Sosero YL, Yu E, Estiar MA, Krohn L, Mufti K, Rudakou U, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Trempe JF, Quinnell TG, Oscroft N, Arnulf I, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Biscarini F, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Postuma RB, Rouleau GA, Ibrahim A, Stefani A, Högl B, Hu MTM, Gan-Or Z. Sosero YL, et al. Among authors: estiar ma. J Parkinsons Dis. 2022;12(1):333-340. doi: 10.3233/JPD-212867. J Parkinsons Dis. 2022. PMID: 34690151
Fine mapping of the HLA locus in Parkinson's disease in Europeans.
Yu E, Ambati A, Andersen MS, Krohn L, Estiar MA, Saini P, Senkevich K, Sosero YL, Sreelatha AAK, Ruskey JA, Asayesh F, Spiegelman D, Toft M, Viken MK, Sharma M, Blauwendraat C, Pihlstrøm L, Mignot E, Gan-Or Z. Yu E, et al. Among authors: estiar ma. NPJ Parkinsons Dis. 2021 Sep 21;7(1):84. doi: 10.1038/s41531-021-00231-5. NPJ Parkinsons Dis. 2021. PMID: 34548497 Free PMC article.
58 results