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

Analysis of Primary Cilium-Bearing Human Neuroprogenitors Using Flow Cytometry

利用流式细胞术分析原代纤毛人神经祖细胞

De Gasperi, E; De Vita, M; Brusa, M; De Gregorio, E; Solito, S; Azzalin, A; Pollara, L; Valente, E M; Sottile, V

Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene

从 CPLANE1 基因复合杂合突变的 Joubert 综合征患者中生成 iPSC 系

Mazzotta C, Serpieri V, Orsi A, Cavan S, Rossi E, Stanzial F, Valente E M

PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage.

PINK1 通过磷酸化 Bcl-xL 并抑制其促凋亡切割,从而保护细胞免受线粒体去极化引起的细胞死亡

Arena G, Gelmetti V, Torosantucci L, Vignone D, Lamorte G, De Rosa P, Cilia E, Jonas E A, Valente E M

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

RPGRIP1L基因突变主要与Joubert综合征相关疾病的小脑-肾脏表型有关。

Brancati, F; Travaglini, L; Zablocka, D; Boltshauser, E; Accorsi, P; Montagna, G; Silhavy, J L; Barrano, G; Bertini, E; Emma, F; Rigoli, L; Dallapiccola, B; Gleeson, J G; Valente, E M

Diffusion tensor imaging in Joubert syndrome

Joubert综合征的弥散张量成像

Poretti, A; Boltshauser, E; Loenneker, T; Valente, E M; Brancati, F; Il'yasov, K; Huisman, T A G M

A family study on primary blepharospasm

一项关于原发性眼睑痉挛的家族研究

Defazio, G; Martino, D; Aniello, M S; Masi, G; Abbruzzese, G; Lamberti, S; Valente, E M; Brancati, F; Livrea, P; Berardelli, A

A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13

常染色体显性遗传性圆锥角膜的基因位点定位于人类3号染色体3p14-q13区域。

Brancati, F; Valente, E M; Sarkozy, A; Fehèr, J; Castori, M; Del Duca, P; Mingarelli, R; Pizzuti, A; Dallapiccola, B

Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia

多巴胺D5受体(DRD5)作为颈肌张力障碍易感基因的作用

Brancati, F; Valente, E M; Castori, M; Vanacore, N; Sessa, M; Galardi, G; Berardelli, A; Bentivoglio, A R; Defazio, G; Girlanda, P; Abbruzzese, G; Albanese, A; Dallapiccola, B

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

重度婴儿高钾性周期性麻痹和先天性肌强直:SCN4A 基因 T704M 突变相关的临床谱系扩大

Brancati, F; Valente, E M; Davies, N P; Sarkozy, A; Sweeney, M G; LoMonaco, M; Pizzuti, A; Hanna, M G; Dallapiccola, B

Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14

常染色体显性遗传性良性毛细血管扩张症的致病基因定位于5q14染色体上的毛细血管畸形CMC1基因座。

Brancati, F; Valente, E M; Tadini, G; Caputo, V; Di Benedetto, A; Gelmetti, C; Dallapiccola, B