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720 Publications
2022 | Journal Article | IST-REx-ID: 12174 | 
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: A disorder of lysosomal homeostasis
Guerrini R, Mei D, Szigeti MK, 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, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S, 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, Masuelli L, Conti V, Novarino G, Fassio A. 2022. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: A disorder of lysosomal homeostasis. Brain. 145(8), 2687–2703.
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Guerrini R, Mei D, Szigeti MK, 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, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S, 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, Masuelli L, Conti V, Novarino G, Fassio A. 2022. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: A disorder of lysosomal homeostasis. Brain. 145(8), 2687–2703.
2022 | Journal Article | IST-REx-ID: 12212 |
Nanoscale alterations in GABAB receptors and GIRK channel organization on the hippocampus of APP/PS1 mice
A. Martín-Belmonte, C. Aguado, R. Alfaro-Ruiz, A.E. Moreno-Martínez, L. de la Ossa, E. Aso, L. Gómez-Acero, R. Shigemoto, Y. Fukazawa, F. Ciruela, R. Luján, Alzheimer’s Research & Therapy 14 (2022).
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A. Martín-Belmonte, C. Aguado, R. Alfaro-Ruiz, A.E. Moreno-Martínez, L. de la Ossa, E. Aso, L. Gómez-Acero, R. Shigemoto, Y. Fukazawa, F. Ciruela, R. Luján, Alzheimer’s Research & Therapy 14 (2022).
2022 | Journal Article | IST-REx-ID: 12210 |
Norms of certain functions of a distinguished Laplacian on the ax + b groups
R. Akylzhanov, Y. Kuznetsova, M. Ruzhansky, H. Zhang, Mathematische Zeitschrift 302 (2022) 2327–2352.
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R. Akylzhanov, Y. Kuznetsova, M. Ruzhansky, H. Zhang, Mathematische Zeitschrift 302 (2022) 2327–2352.
2022 | Journal Article | IST-REx-ID: 12226 |
Strand asymmetry influences mismatch resolution during single-strand annealing
V. Pokusaeva, A.R. Diez, L. Espinar, A.T. Pérez, G.J. Filion, Genome Biology 23 (2022).
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V. Pokusaeva, A.R. Diez, L. Espinar, A.T. Pérez, G.J. Filion, Genome Biology 23 (2022).
2022 | Journal Article | IST-REx-ID: 12273 |
Quadratically constrained myopic adversarial channels
Y. Zhang, S. Vatedka, S. Jaggi, A.D. Sarwate, IEEE Transactions on Information Theory 68 (2022) 4901–4948.
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Y. Zhang, S. Vatedka, S. Jaggi, A.D. Sarwate, IEEE Transactions on Information Theory 68 (2022) 4901–4948.