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2022 | Journal Article | IST-REx-ID: 12174 | OA
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.
[Published Version] View | DOI | Download Published Version (ext.) | WoS
 
[1]
2019 | Journal Article | IST-REx-ID: 6470 | OA [Published Version] View | DOI | Download Published Version (ext.) | WoS | PubMed | Europe PMC
 

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2 Publications

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[2]
2022 | Journal Article | IST-REx-ID: 12174 | OA
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.
[Published Version] View | DOI | Download Published Version (ext.) | WoS
 
[1]
2019 | Journal Article | IST-REx-ID: 6470 | OA [Published Version] View | DOI | Download Published Version (ext.) | WoS | PubMed | Europe PMC
 

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