Pubblications – Human Brain Map

Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD Jr, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA Jr, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Gleeson JG. Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development. Nat Genet. 2023 Jan 12. doi: 10.1038/s41588-022-01276-9. Online ahead of print.
Ramond F, Dalgliesh C, Grimmel M, Wechsberg O, Vetro A, Guerrini R, FitzPatrick D, Poole RL, Lebrun M, Bayat A, Grasshoff U, Bertrand M, Witt D, Turnpenny PD, Faundes V, María LS, Fuentes CM, Mabe P, Hussain SA, Mullegama SV, Torti E, Oehl-Jaschkowitz B, Salmon LB, Orenstein N, Shahar NR, Hagari O, Bazak L, Hoffjan S, Prada CE, Haack T, Elliott DJ. Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome. Genet Med . 2022 Dec 19;100003. doi: 10.1016/j.gim.2022.100003. Online ahead of print.
Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D’Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Benova B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R. Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. Neurology. 2022 Oct 28;10.1212/WNL.0000000000201471. doi: 10.1212/WNL.0000000000201471. Online ahead of print.
Guerrini R, Conti V, Mantegazza M, Balestrini S, Galanopoulou AS, Benfenati F. Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum. Physiol Rev. 2023;103:433-513. doi: 10.1152/physrev.00063.2021.
Turrini, L., Sorelli, M., de Vito, G., Credi, C., Tiso, N., Vanzi, F., & Pavone, F. S. (2022). Multimodal Characterization of Seizures in Zebrafish Larvae. Biomedicines, 10(5), 951.
Scaglione, A., Conti, E., Allegra Mascaro, A. L., & Pavone, F. S. (2022). Tracking the effect of therapy with single-trial based classification after stroke. Frontiers in Systems Neuroscience, 41.
Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB; DDD Study, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S; Undiagnosed Diseases Network, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R; ATP6V1A collaborators, Masuelli L, Conti V, Novarino G, Fassio A. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain. 2022;145:2687-2703. doi: 10.1093/brain/awac145.
L. Pesce, M. Scardigli, V. Gavryusev, A. Laurino, G. Mazzamuto, N. Brady, G. Sancataldo, L. Silvestri, C. Destrieux, P. Hof, I. Costantini† and F. S. Pavone “3D molecular phenotyping of cleared human brain tissues with light-sheet fluorescence microscopy”, Communication Biology, 5, 447 (2022). https://doi.org/10.1038/s42003-022-03390-0
Ahmed Abdelfattah, Sapna Ahuja, Taner Akkin, Srinivasa Rao Allu, David A. Boas, Joshua Brake, Erin M. Buckley, Robert E. Campbell, Anderson I. Chen, Xiaojun Cheng, Tomáš Cižmár, Irene Costantini, Massimo De Vittorio, Anna Devor, Patrick R. Doran, Mirna El Khatib, Valentina Emiliani, Natalie Fomin-Thunemann, Yeshaiahu Fainman, Tomás Fernández Alfonso, Christopher G. L. Ferri, Ariel Gilad, Xue Han, Andrew Harris, Elizabeth M. C. Hillman, Ute Hochgeschwender, Matthew G. Holt, Na Ji, Kivilcim Kiliç, Evelyn M. R. Lake, Lei Li, Tianqi Li, Philipp Mächler, Rickson C. Mesquita, Evan W. Miller, K.M. Naga Srinivas Nadella, U. Valentin Nägerl, Yusuke Nasu, Axel Nimmerjahn, Petra Ondrácková, Francesco S. Pavone, Citlali Perez Campos, Darcy S. Peterka, Filippo Pisano, Ferruccio Pisanello, Francesca Puppo, Bernardo L. Sabatini, Sanaz Sadegh, Sava Sakadžic, Shy Shoham, Sanaya N. Shroff, R. Angus Silver, Ruth R. Sims, Spencer L. Smith, Vivek J. Srinivasan, Martin Thunemann, Lei Tian, Lin Tian, Thomas Troxler, Antoine Valera, Alipasha Vaziri, Sergei A. Vinogradov, Flavia Vitale, Lihong V. Wang, Hana Uhlířová, Chris Xu, Changhuei Yang, Mu-Han Yang, Gary Yellen, Ofer Yizhar, Yongxin Zhao. “Neurophotonic tools for microscopic measurements and manipulation: status report,” Neurophoton. 9(S1) 013001 (27 April 2022)
M. Scardigli, L. Pesce, N. Brady, G. Mazzamuto, V. Gavryusev, L. Silvestri, P. R Hof, C. Destrieux, I. Costantini and F. S. Pavone “Comparison of different tissue clearing methods for 3D reconstruction of human brain cellular anatomy using advanced imaging techniques”. Frontiers in Neuroanatomy 2021
L.Pesce, A. Laurino, M. Scardigli, J. Yang, D. A. Boas, P. R. Hof, C. Destrieux, I. Costantini, F. S. Pavone, “Exploring the human cerebral cortex using confocal microscopy” ISSN 0079-6107, Progress in Biophysics and Molecular Biology, 2021
L. Silvestri, M. C. Müllenbroich, I. Costantini, A. P. Di Giovanna, G. Mazzamuto, A. Franceschini, D. Kutra, A. Kreshuk, C. Checcucci, L. O. Toresano, P. Frasconi, L. Sacconi, and F. S. Pavone “Universal autofocus for quantitative volumetric microscopy of whole mouse brains” Nature Methods, 2021
Costantini, I., Baria, E., Sorelli, M., Matuschke, F., Giardini, F., Menzel, M., Mazzamuto, G., Silvestri, L., Cicchi, R., Amunts, K., Axer, M., and Pavone, F. S. (2021). Autofluorescence enhancement for label-free imaging of myelinated fibers in mammalian brains. Scientific reports, 11(1), 1-11.

Lionetti V, Bollini S, Coppini R, Gerbino A, Ghigo A, Iaccarino G, Madonna R, Mangiacapra F, Miragoli M, Moccia F, Munaron L, Pagliaro P, Parenti A, Pasqua T, Penna C, Quaini F, Rocca C, Samaja M, Sartiani L, Soda T, Tocchetti CG, Angelone T. Understanding the heart-brain axis response in COVID-19 patients: A suggestive perspective for therapeutic development. Pharmacol Res. 2021 Jun;168:105581. doi: 10.1016/j.phrs.2021.105581. Epub 2021 Mar 26. PMID: 33781873; PMCID: PMC7997688.