The effect of swimming on oral health status: competitive versus non-competitive athletes

by Simonetta D’ERCOLE, Marco TIERI, Diego MARTINELLI, Domenico TRIPODI
Published 2016-04-01

Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Inte...

by Emanuele Panza, Diego Martinelli, Pamela Magini, Carlo Dionisi Vici, Marco Seri
Published 2019-02-01

Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia

by Giorgia Olivieri, Stefano Pro, Daria Diodato, Matteo Di Capua, Daniela Longo, Diego Martinelli, Enrico Bertini, Carlo Dionisi-Vici
Published 2019-08-01

Etiology and Management of Pediatric Intestinal Failure: Focus on the Non-Digestive Causes

by Antonella Diamanti, Giacomo Calvitti, Diego Martinelli, Emma Santariga, Teresa Capriati, Giulia Bolasco, Lorenzo Iughetti, Arturo Pujia, Daniela Knafelz, Giuseppe Maggiore
Published 2021-02-01

Two Italian Patients with <i>ELOVL4</i>-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

by Andrea Diociaiuti, Diego Martinelli, Francesco Nicita, Claudia Cesario, Elisa Pisaneschi, Marina Macchiaiolo, Sabrina Rossi, Angelo Giuseppe Condorelli, Giovanna Zambruno, May El Hachem
Published 2021-02-01

Analysis of LPI-causing mutations on y+LAT1 function and localization

by Bianca Maria Rotoli, Amelia Barilli, Filippo Ingoglia, Rossana Visigalli, Massimiliano G. Bianchi, Francesca Ferrari, Diego Martinelli, Carlo Dionisi-Vici, Valeria Dall’Asta
Published 2019-03-01

Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient

by Giorgia Olivieri, Diego Martinelli, Daniela Longo, Chiara Grimaldi, Daniela Liccardo, Ivano Di Meo, Andrea Pietrobattista, Anna Sidorina, Michela Semeraro, Carlo Dionisi-Vici
Published 2021-05-01

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

by Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza
Published 2019-08-01

U-IMD: the first Unified European registry for inherited metabolic diseases

by Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Kathrin Jeltsch, Natalia Juliá-Palacios, Ángels García-Cazorla, Carlo Dionisi-Vici, Stefan Kölker
Published 2021-02-01

Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model

by Marie Reine Haddad, Eun-Young Choi, Patricia M. Zerfas, Ling Yi, Diego Martinelli, Patricia Sullivan, David S. Goldstein, Jose A. Centeno, Lauren R. Brinster, Martina Ralle, Stephen G. Kaler
Published 2018-09-01

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

by Anna Ardissone, Claudio Bruno, Daria Diodato, Alice Donati, Daniele Ghezzi, Eleonora Lamantea, Costanza Lamperti, Michelangelo Mancuso, Diego Martinelli, Guido Primiano, Elena Procopio, Anna Rubegni, Filippo Santorelli, Maria Cristina Schiaffino, Serenella Servidei, Flavia Tubili, Enrico Bertini, Isabella Moroni
Published 2021-10-01

Epilepsy and <i>BRAF</i> Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations

by Domenica I. Battaglia, Maria Luigia Gambardella, Stefania Veltri, Ilaria Contaldo, Giovanni Chillemi, Chiara Veredice, Michela Quintiliani, Chiara Leoni, Roberta Onesimo, Tommaso Verdolotti, Francesca Clementina Radio, Diego Martinelli, Marina Trivisano, Nicola Specchio, Charlotte Dravet, Marco Tartaglia, Giuseppe Zampino
Published 2021-08-01

Cyclic Vomiting Syndrome in Children

by Umberto Raucci, Osvaldo Borrelli, Giovanni Di Nardo, Renato Tambucci, Piero Pavone, Silvia Salvatore, Maria Elisabetta Baldassarre, Duccio Maria Cordelli, Raffaele Falsaperla, Enrico Felici, Michela Ada Noris Ferilli, Salvatore Grosso, Saverio Mallardo, Diego Martinelli, Paolo Quitadamo, Licia Pensabene, Claudio Romano, Salvatore Savasta, Alberto Spalice, Caterina Strisciuglio, Agnese Suppiej, Massimiliano Valeriani, Letizia Zenzeri, Alberto Verrotti, Annamaria Staiano, Maria Pia Villa, Martino Ruggieri, Pasquale Striano, Pasquale Striano, Pasquale Parisi
Published 2020-11-01

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.

by Amanda H Kahn-Kirby, Akiko Amagata, Celine I Maeder, Janet J Mei, Steve Sideris, Yuko Kosaka, Andrew Hinman, Stephanie A Malone, Joel J Bruegger, Leslie Wang, Virna Kim, William D Shrader, Kevin G Hoff, Joey C Latham, Euan A Ashley, Matthew T Wheeler, Enrico Bertini, Rosalba Carrozzo, Diego Martinelli, Carlo Dionisi-Vici, Kimberly A Chapman, Gregory M Enns, William Gahl, Lynne Wolfe, Russell P Saneto, Simon C Johnson, Jeffrey K Trimmer, Matthew B Klein, Charles R Holst
Published 2019-01-01

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases

by Chiara Ticci, Daniele Orsucci, Anna Ardissone, Luca Bello, Enrico Bertini, Irene Bonato, Claudio Bruno, Valerio Carelli, Daria Diodato, Stefano Doccini, Maria Alice Donati, Claudia Dosi, Massimiliano Filosto, Chiara Fiorillo, Chiara La Morgia, Costanza Lamperti, Silvia Marchet, Diego Martinelli, Carlo Minetti, Maurizio Moggio, Tiziana Enrica Mongini, Vincenzo Montano, Isabella Moroni, Olimpia Musumeci, Elia Pancheri, Elena Pegoraro, Guido Primiano, Elena Procopio, Anna Rubegni, Roberta Scalise, Monica Sciacco, Serenella Servidei, Gabriele Siciliano, Costanza Simoncini, Deborah Tolomeo, Paola Tonin, Antonio Toscano, Flavia Tubili, Michelangelo Mancuso, Roberta Battini, Filippo Maria Santorelli
Published 2021-05-01

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

by Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann
Published 2018-07-01

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

by Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade
Published 2020-01-01