Davide Tonduti - Dissemin

All papers authored by Davide Tonduti

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2022 Alessia Leidi, Roberto Previtali

, Cecilia Parazzini, Federico Raviglione, Stephana Carelli, Marisa I. Mendes, Gajja S. Salomons, Maria Iascone

, Davide Tonduti

Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al

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Martha Caterina Faraguna

, Francesca Musto, Viola Crescitelli, Maria Iascone

, Luigina Spaccini, Davide Tonduti

, Tiziana Fedeli, Gaia Kullmann, Francesco Canonico, Alessandro Cattoni

, Fabiola Dell’Acqua, Carmelo Rizzari

, Serena Gasperini

Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child

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2021 Ferdy S. van Geest

, Stefan Groeneweg

, Erica L. T. van den Akker

, Iuliu Bacos, Diana Barca, Sjoerd A. A. van den Berg

, Enrico Bertini

, Doris Brunner, Nicola Brunetti-Pierri

, Marco Cappa, Gerarda Cappuccio, Krishna Chatterjee, Alexander D. Chesover, Peter Christian, Régis Coutant and 47 other authors

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

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Davide Tonduti

, Eleonora Mura, Silvia Masnada, Enrico Bertini, Chiara Aiello, Daniela Zini, Lucio Parmeggiani, Gaetano Cantalupo

, Giacomo Talenti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone

, Cecilia Parazzini

Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation

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2020 Carolina Uggenti, Alice Lepelley

, Marine Depp, Andrew P. Badrock, Mathieu P. Rodero, Marie-Thérèse El-Daher, Gillian I. Rice

, Somdutta Dhir, Ann P. Wheeler, Ashish Dhir, Waad Albawardi, Marie-Louise Frémond, Luis Seabra

, Jennifer Doig, Natalie Blair and 41 other authors

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

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Félixe Pelletier, Stefanie Perrier

, Ferdy K. Cayami

, Amytice Mirchi

, Stephan Saikali

, Luan T. Tran, Nicole Ulrick, Kether Guerrero

, Emmanouil Rampakakis

, Rosalina M. L. van Spaendonk

, Sakkubai Naidu, Daniela Pohl

, William T. Gibson

, Michelle Demos, Cyril Goizet and 105 other authors

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

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2019 Silvia Masnada, Stefan Groenweg, Veronica Saletti, Luisa Chiapparini, Barbara Castellotti, Ettore Salsano

, W. Edward Visser, Davide Tonduti

Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency

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Jessica Garau, Vanessa Cavallera, Marialuisa Valente, Davide Tonduti

, Daisy Sproviero

, Susanna Zucca, Domenica Battaglia, Roberta Battini, Enrico Bertini, Silvia Cappanera, Luisa Chiapparini, Camilla Crasà, Giovanni Crichiutti, Elvio Dalla Giustina, Stefano D’Arrigo and 24 other authors

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

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2016 Davide Tonduti

, Chiara Aiello, Florence Renaldo, Imen Dorboz, Simon Saaman, Diana Rodriguez, Houda Fettah, Monique Elmaleh, Roberta Biancheri, Sabina Barresi

, Loredana Boccone, Simona Orcesi, Anna Pichiecchio, Roberta Zangaglia, Hélène Maurey and 3 other authors

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All papers authored by Davide Tonduti