Feil Family Brain & Mind Research Institute

Publications

Found 602 results
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2024
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P et al..  2024.  RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.. Genet Med. :101347.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P et al..  2024.  RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.. Genet Med. :101347.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P et al..  2024.  RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.. Genet Med. :101347.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P et al..  2024.  RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.. Genet Med. :101347.
Larivière D, Abueg L, Brajuka N, Gallardo-Alba C, Grüning B, Ko BJune, Ostrovsky A, Palmada-Flores M, Pickett BD, Rabbani K et al..  2024.  Scalable, accessible and reproducible reference genome assembly and evaluation in Galaxy.. Nat Biotechnol.
Larivière D, Abueg L, Brajuka N, Gallardo-Alba C, Grüning B, Ko BJune, Ostrovsky A, Palmada-Flores M, Pickett BD, Rabbani K et al..  2024.  Scalable, accessible and reproducible reference genome assembly and evaluation in Galaxy.. Nat Biotechnol.
Colognesi M, Shkodra A, Gabbia D, Kawamata H, Manfredi PL, Manfredi G, De Martin S.  2024.  Sex-dependent effects of the uncompetitive N-methyl-D-aspartate receptor antagonist REL-1017 in G93A-SOD1 amyotrophic lateral sclerosis mice.. Front Neurol. 15:1384829.
Peter CJ, Agarwal A, Watanabe R, Kassim BS, Wang X, Lambert TY, Javidfar B, Evans V, Dawson T, Fridrikh M et al..  2024.  Single chromatin fiber profiling and nucleosome position mapping in the human brain.. Cell Rep Methods. 4(12):100911.
Joglekar A, Hu W, Zhang B, Narykov O, Diekhans M, Marrocco J, Balacco J, Ndhlovu LC, Milner TA, Fedrigo O et al..  2024.  Single-cell long-read sequencing-based mapping reveals specialized splicing patterns in developing and adult mouse and human brain.. Nat Neurosci.
Carnazza KE, Komer LE, Xie YXue, Pineda A, Briano JAntonio, Gao V, Na Y, Ramlall T, Buchman VL, Eliezer D et al..  2024.  Synaptic vesicle binding of α-synuclein is modulated by β- and γ-synucleins.. Cell Rep. 43(5):114280.
Pardo-Palacios FJ, Wang D, Reese F, Diekhans M, Carbonell-Sala S, Williams B, Loveland JE, De María M, Adams MS, Balderrama-Gutierrez G et al..  2024.  Systematic assessment of long-read RNA-seq methods for transcript identification and quantification.. Nat Methods. 21(7):1349-1363.
Pardo-Palacios FJ, Wang D, Reese F, Diekhans M, Carbonell-Sala S, Williams B, Loveland JE, De María M, Adams MS, Balderrama-Gutierrez G et al..  2024.  Systematic assessment of long-read RNA-seq methods for transcript identification and quantification.. Nat Methods. 21(7):1349-1363.
Gong B, Li D, Łabaj PP, Pan B, Novoradovskaya N, Thierry-Mieg D, Thierry-Mieg J, Chen G, Lucas ABergstrom, LoCoco JS et al..  2024.  Targeted DNA-seq and RNA-seq of Reference Samples with Short-read and Long-read Sequencing.. Sci Data. 11(1):892.
Gong B, Li D, Łabaj PP, Pan B, Novoradovskaya N, Thierry-Mieg D, Thierry-Mieg J, Chen G, Lucas ABergstrom, LoCoco JS et al..  2024.  Targeted DNA-seq and RNA-seq of Reference Samples with Short-read and Long-read Sequencing.. Sci Data. 11(1):892.
Ke YD, van Hummel A, Au C, Chan G, Lee WSiang, van der Hoven J, Przybyla M, Deng Y, Sabale M, Morey N et al..  2024.  Targeting 14-3-3θ-mediated TDP-43 pathology in amyotrophic lateral sclerosis and frontotemporal dementia mice.. Neuron.
Ke YD, van Hummel A, Au C, Chan G, Lee WSiang, van der Hoven J, Przybyla M, Deng Y, Sabale M, Morey N et al..  2024.  Targeting 14-3-3θ-mediated TDP-43 pathology in amyotrophic lateral sclerosis and frontotemporal dementia mice.. Neuron.
Lopez-Lee C, Kodama L, Fan L, Zhu D, Zhu J, Wong MYing, Ye P, Norman K, Foxe NR, Ijaz L et al..  2024.  Tlr7 drives sex differences in age- and Alzheimer's disease-related demyelination.. Science. 386(6725):eadk7844.
Lopez-Lee C, Kodama L, Fan L, Zhu D, Zhu J, Wong MYing, Ye P, Norman K, Foxe NR, Ijaz L et al..  2024.  Tlr7 drives sex differences in age- and Alzheimer's disease-related demyelination.. Science. 386(6725):eadk7844.
Cheng H, Miller D, Southwell N, Fischer JL, Taylor I, J Salbaum M, Kappen C, Hu F, Yang C, Gross SS et al..  2024.  Untargeted Pixel-by-Pixel Imaging of Metabolite Ratio Pairs as a Novel Tool for Biomedical Discovery in Mass Spectrometry Imaging.. bioRxiv.
Qu W, Lam M, McInvale JJ, Mares JA, Kwon S, Humala N, Mahajan A, Nguyen T, Jakubiak KA, Mun J-Y et al..  2024.  Xenografted human iPSC-derived neurons with the familial Alzheimer's disease APPV717I mutation reveal dysregulated transcriptome signatures linked to synaptic function and implicate LINGO2 as a disease signaling mediator.. Acta Neuropathol. 147(1):107.
2025
Larrea D, Tamucci KA, Kabra K, Velasco KR, Yun TD, Pera M, Montesinos J, Agrawal RR, Paradas C, Smerdon JW et al..  2025.  Altered mitochondria-associated ER membrane (MAM) function shifts mitochondrial metabolism in amyotrophic lateral sclerosis (ALS).. Nat Commun. 16(1):379.
Andres W, Bruce S, Merkler AEliot, Iadecola C, de Leon MJ, Chiang GC, Kamel H, Zhang C, Murthy SB.  2025.  Association Between Cerebral Amyloid Angiopathy and Nontraumatic Subdural Hemorrhage.. Neurology. 104(10):e213614.
Li D, Li J, Johann DJ, Butler D, Chen G, Foox J, Gong B, Jones W, Kreil DP, Kusko R et al..  2025.  Augmenting precision medicine via targeted RNA-Seq detection of expressed mutations.. NPJ Precis Oncol. 9(1):182.
Li D, Li J, Johann DJ, Butler D, Chen G, Foox J, Gong B, Jones W, Kreil DP, Kusko R et al..  2025.  Augmenting precision medicine via targeted RNA-Seq detection of expressed mutations.. NPJ Precis Oncol. 9(1):182.
Khawaja RR, Griego E, Lindenau K, Salek A, Gambardella J, Scrivo A, Monday HR, Bourdenx M, Madero-Pérez J, Khan ZN et al..  2025.  Chaperone-mediated autophagy regulates neuronal activity by sex-specific remodelling of the synaptic proteome.. Nat Cell Biol. 27(10):1688-1707.