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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series Sarah M. Brooker MD, PhD; Maria Novelli MD; Robert Coukos PhD; Neha Prakash MBBS; Walaa A. Kamel MD; Marta Amengual-Gual MD; Mathieu Anheim MD, PhD; Giulia Barcia MD, PhD; Tanya Bardakjian MS; Franciska Baur MD; Steffen Berweck MD; Bigna K. Bölsterli MD; Melanie Brugger MD; Thomas Cassini MD; Nicolas Chatron MD; Brian Corner MS; Hormos Salimi Dafsari MD; Jean-Madeleine de Sainte Agathe MD; Colin A. Ellis MD; Kimberly M. Ezell APRN, FNP; Cendrine Foucard MD; Steven J. Frucht MD; Maria C. Garcia MBBS; Deepak Gill MBBS, FRACP; Anne Guimier MD; Rizwan Hamid MD, PhD; Damià Heine-Suñer PhD; Peter Herkenrath MD; Marie Hully MD; Ioannis U. Isaias MD, PhD; Louis Januel MD; Chloe Laurencin MD; Taylor Laut MS; Alinoe Lavillaureix MD; Gaetan Lesca MD, PhD; Marion Lesieur-Sebellin MD; Luca Magistrelli MD, PhD; Cecilia Marelli MD, PhD; Heather C. Mefford MD, PhD; Bryce A. Mendelsohn MD; Saadet Mercimek-Andrews MD, PhD; Claire Miller MD, PhD; Shekeeb S. Mohammad MBBS, PhD, FRACP; Francesca Morgante MD, PhD; Sirisha Nandipati MD; Thomas Opladen MD; Mahesh Padmanaban MD; Micaela Pauni MD; Gianni Pezzoli MD; Amelie Piton PhD; Francis Ramond MD, PhD; Giulietta M. Riboldi MD, PhD; Christelle Rougeot-Jung MD; Fernando Santos-Simarro MD, PhD; Ingrid E. Scheffer MBBS, PhD; Naoual Serari M2; Christine M. Stahl MD; Ann Stembridge Kung MS; Susana Tarongí Sanchez MD; Christel Thauvin-Robinet MD, PhD; Marianne Till MD; Christine Tranchant MD, PhD; Christopher Troedson MBBS, FRACP; Thomas F. Tropea DO, MPH; Olivier Vanakker MD, PhD; Patricia Vega MD; Maxi Leona Wiese MD; Udo Wieshmann MD, PhD, FRCP; Laura J. Williams MB BCh BAO, MD; Thomas Wirth MD; Michael Zech MD; Hans Zempel MD, PhD; Emmanuel Roze MD, PhD; Vincenzo Leuzzi MD; Serena Galosi MD, PhD; Victor S. C. Fung PhD, FRACP; Gemma Carvill PhD; Dimitri Krainc MD, PhD; Elizabeth Gerard MD; Niccolò E. Mencacci MD, PhD Share Save
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Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18) Zanobio, Mariateresa; Nardecchia, Francesca; Cappuccio, Gerarda; Onore, Maria Elena; Di Letto, Pasquale; Rahman, Sarah Iffat; Terrone, Gaetano; Ugga, Lorenzo; De Giorgi, Agnese; Cas, Michele Dei; Trinchera, Marco; Leuzzi, Vincenzo; Piluso, Giulio; Nigro, Vincenzo; Brunetti-Pierri, Nicola; Torella, Annalaura Share Save
The clinical value of peripheral biogenic amine metabolites in early-treated phenylketonuria Manti, Filippo; Di Carlo, Emanuele; Santagata, Silvia; Giovanniello, Teresa; Angeloni, Antonio; Pisani, Francesco; Pascucci, Tiziana; Nardecchia, Francesca; Carducci, Claudia; Leuzzi, Vincenzo Share Save
CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus-Ataxia, and Sensorimotor Neuropathy Bove, Rossella; Torella, Annalaura; Novelli, Maria; Ricciardi, Giacomina; Pollini, Luca; Masuelli, Laura; Bei, Roberto; Zanobio, Mariateresa; Pisani, Francesco; Nigro, Vincenzo; Leuzzi, Vincenzo; Galosi, Serena Share Save
Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia Koenig, Mary Kay; Leuzzi, Vincenzo; Gouider, Riadh; Yiu, Eppie M.; Pietrucha, Barbara; Stray-Pedersen, Asbjorg; Perlman, Susan L.; Wu, Steve; Burgers, Trudy; Borgohain, Rupam; Kandadai, Rukmini Mridula; Meyts, Isabelle; Bucciol, Giorgia; Udwadia-Hegde, Anaita; Roberts, Donna; Dane, Aaron; Roden, Maureen; Thye, Dirk; Horn, Biljana; Lederman, Howard M.; Whitehouse, William P. Share Save
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New findings about neuropathological outcomes in the PKU mouse throughout lifespan Bregalda, Alessandro; Carducci, Claudia; Pascucci, Tiziana; Ambrogini, Patrizia; Sartini, Stefano; Pierige, Francesca; di Carlo, Emanuele; Fiori, Elena; Ielpo, Donald; Pagliarini, Marica; Leuzzi, Vincenzo; Magnani, Mauro; Rossi, Luigia Share Save
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome Galosi, Serena; Mancini, Cecilia; Commone, Anna; Calligari, Paolo; Caputo, Viviana; Nardecchia, Francesca; Carducci, Claudia; van den Heuvel, Lambertus P.; Pizzi, Simone; Bruselles, Alessandro; Niceta, Marcello; Martinelli, Simone; Rodenburg, Richard J.; Tartaglia, Marco; Leuzzi, Vincenzo Share Save
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro De Mori, Roberta; Tardivo, Silvia; Pollara, Lidia; Giliani, Silvia Clara; Ali, Eltahir; Giordano, Lucio; Leuzzi, Vincenzo; Fischetto, Rita; Gener, Blanca; Diprima, Santo; Morelli, Marco J.; Monti, Maria Cristina; Sottile, Virginie; Valente, Enza Maria Share Save
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome Nardecchia, Francesca; Carrozzo, Rosalba; Innocenti, Alice; Torraco, Alessandra; Zaccaria, Valerio; Rizza, Teresa; Pisani, Francesco; Bertini, Enrico; Leuzzi, Vincenzo Share Save
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