Riccardo Berutti - Author - Inventaire

Riccardo Berutti

occupation: researcher

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Articles 3

Date

Title

Authors

2017-01-26

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Thomas Meitinger, Aurora Martinez, Edward L Huttlin, Jeffrey W. Harper, Nenad Blau, Holger Prokisch, Tobias B Haack, Tim M Strom, Kirsten Cremer, Hartmut Engels, Apolline Imbard, Manuel Schiff, Riccardo Berutti
2016-01-19

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

Thomas Meitinger, Chris Mühlhausen, Holger Prokisch, Richard M. Durbin, Tobias B Haack, Arcangela Iuso, Thomas Klopstock, Tim M Strom, Bader Alhaddad, Felix Distelmaier, Sascha Sauer, Maja Hempel, Reka Kovacs-Nagy, Riccardo Berutti
2016-08-17

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Valeria Tiranti, Thomas Meitinger, Elke Holinski-Feder, Erika Ignatius, Christoph Freyer, Anna Wredenberg, Jan Senderek, Holger Prokisch, Rita Horvath, Christopher J Carroll, Martin Dichgans, Tobias B Haack, Arcangela Iuso, Thomas Klopstock, Tim M Strom, Matteo Gorza, Manju A Kurian, Susan J Hayflick, Riccardo Berutti

Human - wd:Q117234307

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