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Ilaria D'Amato
Ilaria D'Amato
Genetics
Mutation
Biology
Molecular biology
Phenotype
4
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172
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Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing
2016
Neurobiology of Aging
Elena Piccoli
Giacomina Rossi
Tommaso Rossi
Giuseppe Pelliccioni
Ilaria D'Amato
Fabrizio Tagliavini
Giuseppe Di Fede
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Citations (10)
Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features
2016
Neurobiology of Aging
Celeste M. Karch
Lubov Ezerskiy
Veronica Redaelli
Anna Rita Giovagnoli
Pietro Tiraboschi
Giuseppe Pelliccioni
Paolo Pelliccioni
Dimos Kapetis
Ilaria D'Amato
Elena Piccoli
Maria Giulia Ferretti
Fabrizio Tagliavini
Giacomina Rossi
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Citations (9)
Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease
2012
American Journal of Human Genetics
Alessia Indrieri
Vanessa A. van Rahden
Valeria Tiranti
Manuela Morleo
Daniela Iaconis
Roberta Tammaro
Ilaria D'Amato
Ivan Conte
Isabelle Maystadt
Stephanie Demuth
Alex Zvulunov
Kerstin Kutsche
Massimo Zeviani
Brunella Franco
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Citations (84)
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model
2012
Human Molecular Genetics
Dario Brunetti
Sabrina Dusi
Michela Morbin
Andrea Uggetti
Fabio Moda
Ilaria D'Amato
Carla Giordano
Giulia d'Amati
Anna Cozzi
Sonia Levi
Susan J. Hayflick
Valeria Tiranti
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Citations (69)
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