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

Lifetime Risk of First Symptomatic ICH or Seizure in Familial Cerebral Cavernous Malformations: A Multicenter Patient Data Analysis

家族性脑海绵状血管畸形患者首次出现症状性脑出血或癫痫发作的终生风险:一项多中心患者数据分析

Dammann, Philipp; Santos, Alejandro N; Mavarani, Laven; Guey, Stéphanie; Chabriat, Hugues; Herve, Dominique; Croft, Jacob; Renteria, Mellisa; Jang, David; Zhang, Jun; Li, Da; Wu, Zhen; Weng, Jian-Cong; Petracca, Antonio; Fusco, Carmela; D'Agruma, Leonardo; Castori, Marco; Rath, Matthias; Pilz, Robin A; Felbor, Ute; Steinberg, Gary K; Gu, Jeanne; Bervini, David; Goldberg, Johannes; Raabe, Andreas; Cervio, Andrés; Villamil, Facundo; Rosales, Julieta; Rauschenbach, Laurèl; Riess, Christoph; Oppong, Marvin Darkwah; Karadachi, Hannah; Ahmadipour, Yahya; Wrede, Karsten H; Jabbarli, Ramazan; Deuschl, Cornelius; Li, Yan; Santos Piedade, Guilherme; Köhrmann, Martin; Frank, Benedikt; Wälchli, Thomas; Schmidt, Börge; Overstijns, Manou; Beck, Jürgen; Fung, Christian; Al-Shahi Salman, Rustam; Flemming, Kelly D; Lanzino, Giuseppe; Zafar, Atif; Weinsheimer, Shantel; Nelson, Jeffrey; Zabramski, Joseph M; Akers, Amy; Morrison, Leslie; McCulloch, Charles E; Kim, Helen; Sure, Ulrich

Functional and In Silico Characterization of ALPL Gene Variants Reveals Genotype-Phenotype Correlations in Italian Hypophosphatasia Patients

ALPL基因变异的功能和计算机模拟表征揭示了意大利低磷酸酯酶症患者的基因型-表型相关性

Casamassima, Giulia; Grieco, Anna Maria; Biagini, Tommaso; Buono, Giorgia; Cinque, Luigia; Pugliese, Flavia; Guerra, Francesco Pio; Petrizzelli, Francesco; Mastroianno, Mario; Mazza, Tommaso; Castori, Marco; Scillitani, Alfredo; Guarnieri, Vito

Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies

杂合变异体破坏了ERF与激活的ERK1/2的相互作用,导致小头畸形、发育迟缓和骨骼异常。

Micale, Lucia; Vourlia, Aikaterini; Fusco, Carmela; Pracella, Riccardo; Karagiannis, Dimitrios-Christoforos; Nardella, Grazia; Vaccaro, Lorenzo; Leone, Maria Pia; Gramazio, Antonio; Dentici, Maria Lisa; Aiello, Chiara; Novelli, Antonio; Xenou, Lydia; Sui, Yang; Eichler, Evan E; Cacchiarelli, Davide; Mavrothalassitis, George; Castori, Marco

X-ray crystal structures Corynebacterium diphtheriae sortases

白喉棒状杆菌分选酶的X射线晶体结构

Corradi, Marco; Borri, Antonio; Castori, Giulio; Coventry, Kathryn; Osipiuk, Jerzy; Kamari, Poonam; Ton-That, HyLam; Ton-That, Hung; Joachimiak, Andrzej

Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia

阿司匹林长期治疗儿童低磷酸酯酶症的安全性和有效性

d'Angelo, Debora Mariarita; Lauriola, Federico; Silvestrini, Luisa; Cinque, Luigia; Castori, Marco; Di Donato, Giulia; Di Ludovico, Armando; La Bella, Saverio; Chiarelli, Francesco; Giannini, Cosimo; Breda, Luciana

Long-Term Phenotypic Evolution in GRIN2A-Related Disorders: Electroclinical and Genetic Insights from Two Families with Extended Follow-Up

GRIN2A相关疾病的长期表型演变:来自两个长期随访家族的电生理临床和遗传学见解

Di Muro, Ester; Palumbo, Pietro; Carella, Massimo; Benvenuto, Mario; Bianchi, Maria Rachele; Costantino, Umberto; Di Maggio, Giovanni; Castori, Marco; d'Orsi, Giuseppe; Palumbo, Orazio

Case Report: Unmasking the role of rem sleep in modulating non-convulsive status epilepticus in ring chromosome 20 syndrome: a genetic disorder of sleep architecture?

病例报告:揭示快速眼动睡眠在调节环状染色体 20 综合征(一种睡眠结构遗传障碍)中的非惊厥性癫痫持续状态中的作用?

Mandato, Filippo; Di Claudio, Maria Teresa; Costantino, Umberto; Rovito, Francesca; Palumbo, Orazio; Palumbo, Pietro; La Neve, Angela; Pugliatti, Maura; Castori, M; Carella, Massimo; d'Orsi, Giuseppe

Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion

耳面颈综合征及其与鳃耳肾谱系疾病的重叠:EYA1相关疾病的综合文献分析,包括一例8q13.2q13.3缺失的新病例

Graziani, Ludovico; Carriero, Miriam Lucia; Melchionda, Salvatore; Augello, Bartolomeo; Palumbo, Orazio; Bengala, Mario; Castori, Marco; Novelli, Giuseppe

A novel missense variant of the calcium-sensing receptor gene associated with familial hypocalciuric hypercalcemia

一种与家族性低钙尿性高钙血症相关的钙敏感受体基因的新型错义变异

Laganà, Martina; Grieco, Anna Maria; Guarnieri, Vito; Castori, Marco; Pracella, Riccardo; Giovinazzo, Salvatore; Cannavò, Salvatore; Ruggeri, Rosaria M

Circulating biomarkers in familial cerebral cavernous malformation

家族性脑海绵状血管畸形患者的循环生物标志物

Lazzaroni, Francesca; Meessen, Jennifer M T A; Sun, Ying; Lanfranconi, Silvia; Scola, Elisa; D'Alessandris, Quintino Giorgio; Tassi, Laura; Carriero, Maria Rita; Castori, Marco; Marino, Silvia; Blanda, Adriana; Nicolis, Enrico B; Novelli, Deborah; Calabrese, Roberta; Agnelli, Nicolò M; Bottazzi, Barbara; Leone, Roberto; Mazzola, Selene; Besana, Silvia; Catozzi, Carlotta; Nezi, Luigi; Lampugnani, Maria G; Malinverno, Matteo; Grdseloff, Nastasja; Rödel, Claudia J; Rezai Jahromi, Behnam; Bolli, Niccolò; Passamonti, Francesco; Magnusson, Peetra U; Abdelilah-Seyfried, Salim; Dejana, Elisabetta; Latini, Roberto