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

Very late-onset Krabbe disease with concomitant dementia: case description and a critical review of the literature

极晚发性克拉伯病伴痴呆:病例描述及文献综述

Rossi, Salvatore; Tessa, Alessandra; Vita, Maria Gabriella; Russo, Rosellina; Parisi, Davide; Piemonte, Fiorella; Dalla Zanna, Gianmarco; Santorelli, Filippo Maria; Silvestri, Gabriella

Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia

常染色体显性遗传性痉挛性截瘫家族中发现新的ALDH18A1错义变异

Novarella, Federica; Tessa, Alessandra; Criscuolo, Chiara; Senerchia, Gianmaria; Nicolella, Valerio; Trovato, Rosanna; Falco, Fabrizia; Cocozza, Sirio; Scaravilli, Alessandra; Ruoppolo, Margherita; Caterino, Marianna; Terracciano, Daniela; Castaldo, Giuseppe; Brescia Morra, Vincenzo; Santorelli, Filippo Maria; Moccia, Marcello

Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1: An Italian Cohort Study

扩展与 PACS1 中 Arg203Trp 复发性变异相关的临床谱:一项意大利队列研究

Pagano, Stefano; Lopergolo, Diego; De Falco, Alessandro; Meossi, Camilla; Satolli, Sara; Pasquariello, Rosa; Trovato, Rosanna; Tessa, Alessandra; Casalini, Claudia; Pfanner, Lucia; Astrea, Guja; Battini, Roberta; Santorelli, Filippo M

NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review

NOTCH1相关脑白质病:一种新型变异及文献综述

Della Vecchia, Stefania; Tessa, Alessandra; Pasquariello, Rosa; Seabra, Luis; Crow, Yanick J; Battini, Roberta

Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of HPDL-Related Neurological Disorders.

从三名患有不同形式的 HPDL 相关神经系统疾病的患者中生成和表征 hiPS 细胞系

Baggiani Matteo, Damiani Devid, Privitera Flavia, Della Vecchia Stefania, Tessa Alessandra, Santorelli Filippo Maria

Primary Coenzyme Q10 Deficiency-Related Ataxias

原发性辅酶Q10缺乏相关性共济失调

Lopriore, Piervito; Vista, Marco; Tessa, Alessandra; Giuntini, Martina; Caldarazzo Ienco, Elena; Mancuso, Michelangelo; Siciliano, Gabriele; Santorelli, Filippo Maria; Orsucci, Daniele

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy

HINT1相关轴突神经病变中的小型复杂重排

Tessa, Alessandra; Schifino, Mariapaola; Salvo, Eliana; Trovato, Rosanna; Cesana, Luca; Frosini, Silvia; Pasquariello, Rosa; Sgherri, Giada; Battini, Roberta; Bonaglia, Maria Clara; Santorelli, Filippo Maria; Astrea, Guja

A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia

一种新的Aprataxin复合杂合突变导致缓慢进展性共济失调,但不伴有眼动失用症

Satolli, Sara; De Micco, Rosa; Galatolo, Daniele; Tessa, Alessandra; Cirillo, Mario; Tessitore, Alessandro; Santorelli, Filippo Maria

CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report

CACNA1G 基因突变导致显性遗传性肌阵挛-共济失调伴智力障碍:病例报告

De Riggi, Martina; De Giorgi, Agnese; Pollini, Luca; Angelini, Luca; Paparella, Giulia; Cannavacciuolo, Antonio; Birreci, Daniele; Costa, Davide; Tessa, Alessandra; Natale, Gemma; Fiorelli, Marco; Galatolo, Daniele; Santorelli, Filippo Maria; Galosi, Serena; Bologna, Matteo

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability

遗传性痉挛性截瘫18型(SPG18):一系列意大利患者中发现新的ERLIN2变异,揭示其遗传和表型变异性

Cioffi, Ettore; Gioiosa, Valeria; Tessa, Alessandra; Petrucci, Antonio; Trovato, Rosanna; Santorelli, Filippo Maria; Casali, Carlo