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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series 与NUS1致病性变异相关的神经表型谱：一项综合性病例系列研究 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 分享 收藏
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Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18) DEGS1基因的缺失检测应作为诊断少突胶质细胞减少性脑白质营养不良（HLD18）流程的一部分。 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 分享 收藏
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 分享 收藏
CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus-Ataxia, and Sensorimotor Neuropathy CAPRIN1 Pro512Leu 变种导致儿童痴呆、肌阵挛-共济失调和感觉运动神经病变 Bove, Rossella; Torella, Annalaura; Novelli, Maria; Ricciardi, Giacomina; Pollini, Luca; Masuelli, Laura; Bei, Roberto; Zanobio, Mariateresa; Pisani, Francesco; Nigro, Vincenzo; Leuzzi, Vincenzo; Galosi, Serena 分享 收藏
Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia 二磷酸地塞米松自体红细胞包封物在共济失调毛细血管扩张症儿科患者中的长期安全性 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. 分享 收藏
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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 分享 收藏
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome MRPS36的双等位基因变体导致Leigh综合征的新形式 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 分享 收藏
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 分享 收藏
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome GTPBP3中的双等位基因变体: 新患者，表型谱和结果 Nardecchia, Francesca; Carrozzo, Rosalba; Innocenti, Alice; Torraco, Alessandra; Zaccaria, Valerio; Rizza, Teresa; Pisani, Francesco; Bertini, Enrico; Leuzzi, Vincenzo 分享 收藏
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