D
Davide Tonduti
Researcher at Boston Children's Hospital
Publications - 90
Citations - 2576
Davide Tonduti is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Medicine & Aicardi–Goutières syndrome. The author has an hindex of 21, co-authored 73 publications receiving 1797 citations. Previous affiliations of Davide Tonduti include University of Pavia & University of Paris.
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Journal ArticleDOI
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Yanick J. Crow,Diana Chase,Johanna Lowenstein Schmidt,Marcin Szynkiewicz,Gabriella Forte,Hannah Gornall,Anthony Oojageer,Beverley Anderson,Amy Pizzino,Guy Helman,Mohamed S. Abdel-Hamid,Ghada M H Abdel-Salam,Sam Ackroyd,Alec Aeby,Guillermo Agosta,Catherine Albin,Stavit Allon-Shalev,Montse Arellano,Giada Ariaudo,Vijay Aswani,Riyana Babul-Hirji,Eileen Baildam,Nadia Bahi-Buisson,Kathryn Bailey,Christine Barnerias,Magalie Barth,Roberta Battini,Michael W. Beresford,Geneviève Bernard,Marika Bianchi,Thierry Billette de Villemeur,Edward Blair,Miriam Bloom,Alberto B. Burlina,Maria Luisa Carpanelli,Daniel R. Carvalho,Manuel Castro-Gago,Anna Cavallini,Cristina Cereda,Kate Chandler,David Chitayat,Abigail Collins,Concepcion Sierra Corcoles,Nuno Cordeiro,Giovanni Crichiutti,Lyvia Dabydeen,Russell C. Dale,Stefano D'Arrigo,Christian de Goede,Corinne De Laet,Liesbeth De Waele,Inés Denzler,Isabelle Desguerre,Koenraad Devriendt,Maja Di Rocco,Michael C Fahey,Elisa Fazzi,Colin D. Ferrie,António Figueiredo,Blanca Gener,Cyril Goizet,Nirmala Rani Gowrinathan,Kalpana Gowrishankar,Donncha Hanrahan,Bertrand Isidor,Bülent Kara,Nasaim Khan,Mary D. King,Edwin P. Kirk,Ram L. Kumar,Lieven Lagae,Pierre Landrieu,Heinz Lauffer,Vincent Laugel,Roberta La Piana,Ming K. Lim,Jean-Pierre Lin,Tarja Linnankivi,Mark T Mackay,Daphna Marom,Charles Marques Lourenço,Shane McKee,Isabella Moroni,Jenny Morton,Marie Laure Moutard,Kevin J. Murray,Rima Nabbout,Sheela Nampoothiri,Noemi Nunez-Enamorado,Patrick J. Oades,Ivana Olivieri,John R. Østergaard,Belén Pérez-Dueñas,Julie S. Prendiville,Venkateswaran Ramesh,Magnhild Rasmussen,Luc Régal,Federica Ricci,Marlène Rio,Diana Rodriguez,Agathe Roubertie,Elisabetta Salvatici,Karin Segers,Gyanranjan P. Sinha,Doriette Soler,Ronen Spiegel,Tommy Stödberg,Rachel Straussberg,Kathryn J. Swoboda,Mohnish Suri,Uta Tacke,Tiong Yang Tan,Johann te Water Naude,Keng Wee Teik,Maya Thomas,Marianne Till,Davide Tonduti,Enza Maria Valente,Rudy Van Coster,Marjo S. van der Knaap,Grace Vassallo,Raymon Vijzelaar,Julie Vogt,Geoffrey Wallace,Evangeline Wassmer,Hannah J. Webb,William P Whitehouse,Robyn Whitney,Maha S. Zaki,Sameer M. Zuberi,John H. Livingston,Flore Rozenberg,Pierre Lebon,Adeline Vanderver,Simona Orcesi,Gillian I. Rice +135 more
TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.
Journal ArticleDOI
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
L. Brun,Lock Hock Ngu,W. T. Keng,G. S. Ch'ng,Y. S. Choy,Wuh-Liang Hwu,Wang-Tso Lee,Michèl A.A.P. Willemsen,Marcel M. Verbeek,Tessa Wassenberg,Luc Régal,Simona Orcesi,Davide Tonduti,Patrizia Accorsi,H. Testard,Jose E. Abdenur,S. Tay,G. F. Allen,Simon Heales,Ilse Kern,Mitsuhiro Kato,Alessandro P. Burlina,C. Manegold,Georg F. Hoffmann,Nenad Blau +24 more
TL;DR: CSF neurotransmitters profile is highly indicative for the diagnosis of aromatic l-amino acid decarboxylase deficiency, and treatment options are limited, in many cases not beneficial, and prognosis is uncertain.
Journal ArticleDOI
A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
Cas Simons,Nicole I. Wolf,Nathan McNeil,Ljubica Caldovic,Joseph M. Devaney,Asako Takanohashi,Joanna Crawford,Kelin Ru,Sean M. Grimmond,David Miller,Davide Tonduti,Johanna L. Schmidt,Robert S. Chudnow,Rudy Van Coster,Lieven Lagae,Jill Kisler,Juergen Sperner,Marjo S. van der Knaap,Raphael Schiffmann,Ryan J. Taft,Adeline Vanderver +20 more
TL;DR: Exome sequencing and detailed investigation of one of the family quartets with the singular finding of an H-ABC-affected sibling pair revealed maternal mosaicism for the mutation, suggesting that rare de novo mutations that are initially phenotypically neutral in a mosaic individual can be disease causing in the subsequent generation.
Journal ArticleDOI
Case Definition and Classification of Leukodystrophies and Leukoencephalopathies
Adeline Vanderver,Morgan Prust,Davide Tonduti,Fanny Mochel,Heather M. Hussey,Guy Helman,James Y. Garbern,Florian Eichler,Pierre Labauge,Patrick Aubourg,Diana Rodriguez,Marc C. Patterson,Johan L.K. Van Hove,Johanna L. Schmidt,Nicole I. Wolf,Odile Boespflug-Tanguy,Raphael Schiffmann,Marjo S. van der Knaap +17 more
TL;DR: A case definition of leukodystrophies and classification of heritable white matter disorders will permit more detailed epidemiologic studies of these disorders and help to study the epidemiology and relevance of geneticwhite matter disorders to public health.
Journal ArticleDOI
Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy
Martine Tétreault,Karine Choquet,Karine Choquet,Simona Orcesi,Davide Tonduti,Umberto Balottin,Martin Teichmann,Sébastien Fribourg,Raphael Schiffmann,Bernard Brais,Adeline Vanderver,Geneviève Bernard +11 more
TL;DR: Mutations in POLR3A encoding the largest subunit of RNA polymerase III (Pol III) were found to be responsible for the majority of cases presenting with three clinically overlapping hypomyelinating leukodystrophy phenotypes, and recessive mutations inPOLR3B, which codes for the second largest sub unit of Pol III, were uncovered.