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  1. 1
    Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review

    Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review by Leonardo Affronte, Leonardo Affronte, Antonella Pini, Claudia Pizzoli, Emanuele Coccia, Serena Mazzone, Arber Golemi, Melania Giannotta, Duccio Maria Cordelli, Duccio Maria Cordelli, Valerio Carelli, Valerio Carelli, Alessandro Vaisfeld, Alessandro Vaisfeld, Flavia Palombo

    Published 2025-07-01
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  2. 2
    Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

    Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy by Tommaso Pippucci, Alessandra Maresca, Pamela Magini, Giovanna Cenacchi, Vincenzo Donadio, Flavia Palombo, Valentina Papa, Alex Incensi, Giuseppe Gasparre, Maria Lucia Valentino, Carmela Preziuso, Annalinda Pisano, Michele Ragno, Rocco Liguori, Carla Giordano, Caterina Tonon, Raffaele Lodi, Antonia Parmeggiani, Valerio Carelli, Marco Seri

    Published 2015-04-01
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