日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Phenylketonuria Alters the Prefrontal Cortex Genome-Wide Expression Profile Regardless of the Mouse Genetic Background

苯丙酮尿症会改变小鼠前额叶皮层的全基因组表达谱,而与小鼠的遗传背景无关。

Fiori, Elena; Guzzo, Serafina Manila; Lo Iacono, Luisa; Orsini, Cristina; Cabib, Simona; Andolina, Diego; Rossi, Luigia; Nardecchia, Francesca; Leuzzi, Vincenzo; Pascucci, Tiziana

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening

苯丙酮尿症的最初1000天:母体苯丙酮尿症及新生儿筛查阳性后早期生命管理的叙述性综述

Verduci, Elvira; Tosi, Martina; Zuvadelli, Juri; Giorda, Sara; Biasucci, Giacomo; Leuzzi, Vincenzo; Spada, Marco; Burlina, Alberto; Dionisi Vici, Carlo

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes

DNAJC12疾病:临床表现和长期预后

Manti, Filippo; Ricciardi, Giacomina; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Carbone, Maria Teresa; Carducci, Claudia; Mei, Davide; Porta, Francesco; Ortolano, Rita; Candela, Egidio; Burlina, Alberto; Guerrini, Renzo; Pisani, Francesco; Angeloni, Antonio; Leuzzi, Vincenzo

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

与NUS1致病变异相关的神经系统表型谱:一项综合病例系列研究

Brooker, Sarah M; Novelli, Maria; Coukos, Robert; Prakash, Neha; Kamel, Walaa A; Amengual-Gual, Marta; Anheim, Mathieu; Barcia, Giulia; Bardakjian, Tanya; Baur, Franciska; Berweck, Steffen; Bölsterli, Bigna K; Brugger, Melanie; Cassini, Thomas; Chatron, Nicolas; Corner, Brian; Dafsari, Hormos Salimi; de Sainte Agathe, Jean-Madeleine; Ellis, Colin A; Ezell, Kimberly M; Foucard, Cendrine; Frucht, Steven J; Garcia, Maria C; Gill, Deepak; Guimier, Anne; Hamid, Rizwan; Heine-Suñer, Damià; Herkenrath, Peter; Hully, Marie; Isaias, Ioannis U; Januel, Louis; Laurencin, Chloe; Laut, Taylor; Lavillaureix, Alinoe; Lesca, Gaetan; Lesieur-Sebellin, Marion; Magistrelli, Luca; Marelli, Cecilia; Mefford, Heather C; Mendelsohn, Bryce A; Mercimek-Andrews, Saadet; Miller, Claire; Mohammad, Shekeeb S; Morgante, Francesca; Nandipati, Sirisha; Opladen, Thomas; Padmanaban, Mahesh; Pauni, Micaela; Pezzoli, Gianni; Piton, Amelie; Ramond, Francis; Riboldi, Giulietta M; Rougeot-Jung, Christelle; Santos-Simarro, Fernando; Scheffer, Ingrid E; Serari, Naoual; Stahl, Christine M; Kung, Ann Stembridge; Tarongí Sanchez, Susana; Thauvin-Robinet, Christel; Till, Marianne; Tranchant, Christine; Troedson, Christopher; Tropea, Thomas F; Vanakker, Olivier; Vega, Patricia; Wiese, Maxi Leona; Wieshmann, Udo; Williams, Laura J; Wirth, Thomas; Zech, Michael; Zempel, Hans; Roze, Emmanuel; Leuzzi, Vincenzo; Galosi, Serena; Fung, Victor S C; Carvill, Gemma; Krainc, Dimitri; Gerard, Elizabeth; Mencacci, Niccolò E

Neurodevelopmental Disorder and Cortical Myoclonus in ZMYM2 Deficiency

ZMYM2 缺陷引起的神经发育障碍和皮质肌阵挛

Pollini, Luca; Novelli, Maria; Travaglini, Lorena; Panvino, Fabiola; Leuzzi, Vincenzo; Pisani, Francesco; Galosi, Serena

GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments

GAMT 缺乏症:临床表现、治疗、诊断、动物模型、临床前和临床进展

Biagiotti, Sara; Perla, Elena; Guzzo, Serafina Manila; Tolve, Manuela; Nardecchia, Francesca; Rossi, Luigia; Carducci, Claudia; Pascucci, Tiziana; Leuzzi, Vincenzo; Magnani, Mauro

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

通过外显子组数据重新分析检测到的致病性隐匿变异显著提高了Joubert综合征的诊断率。

D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R; Morelli, Federica; Petković Ramadža, Danijela; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria

Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment

新生儿筛查可能漏诊轻症钴胺素C缺乏症:甲基丙二酸评估的重要性

Nardecchia, Francesca; De Giorgi, Agnese; Santagata, Silvia; Giovanniello, Teresa; Tolve, Manuela; Angeloni, Antonio; Leuzzi, Vincenzo; Pisani, Francesco; Carducci, Claudia

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency

酪氨酸羟化酶(TH)缺乏症诊断和治疗共识指南

Bondarenko, Mariya Sigatullina; Kuseyri Hübschmann, Oya; Kulhánek, Jan; Pons, Roser; Pearson, Toni S; Jeltsch, Kathrin; Badnjarevic, Ivana; Wassenberg, Tessa; Horvath, Gabriella; Stevanovic, Galina; Kurian, Manju A; Cortès-Saladelafont, Elisenda; Roubertie, Agathe; Leuzzi, Vincenzo; Bertoldi, Mariarita; Mastrangelo, Mario; Assmann, Birgit; Garcia-Cazorla, Angeles; Opladen, Thomas

Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)

DEGS1基因缺失检测应纳入低髓鞘性脑白质营养不良症(HLD18)的诊断流程。

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