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

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study

对诊断为脑桥小脑发育不全的患者进行评估:一项多中心全国性研究

Cavusoglu, Dilek; Ozturk, Gulten; Turkdogan, Dilsad; Kurul, Semra Hiz; Yis, Uluc; Komur, Mustafa; Incecik, Faruk; Kara, Bulent; Sahin, Turkan; Unver, Olcay; Dilber, Cengiz; Mert, Gulen Gul; Gunay, Cagatay; Uzan, Gamze Sarikaya; Ersoy, Ozlem; Oktay, Yavuz; Mermer, Serdar; Tuncer, Gokcen Oz; Gungor, Olcay; Ozcora, Gul Demet Kaya; Gumus, Ugur; Sezer, Ozlem; Cetin, Gokhan Ozan; Demir, Fatma; Yilmaz, Arzu; Gurbuz, Gurkan; Topcu, Meral; Topaloglu, Haluk; Ceylan, Ahmet Cevdet; Ceylaner, Serdar; Gleeson, Joseph G; Icagasioglu, Dilara Fusun; Sonmez, F Mujgan

Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

两例携带ASNS新致病变异患者的临床结局:对天冬酰胺补充剂的反应及文献回顾

Sprute, Rosanne; Ardicli, Didem; Oguz, Kader Karli; Malenica-Mandel, Anna; Daimagüler, Hülya-Sevcan; Koy, Anne; Coskun, Turgay; Wang, Haicui; Topcu, Meral; Cirak, Sebahattin

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

KCNC1基因的复发性新生突变会导致进行性肌阵挛性癫痫

Muona Mikko, Berkovic Samuel F, Dibbens Leanne M, Oliver Karen L, Maljevic Snezana, Bayly Marta A, Joensuu Tarja, Canafoglia Laura, Franceschetti Silvana, Michelucci Roberto, Markkinen Salla, Heron Sarah E, Hildebrand Michael S, Andermann Eva, Andermann Frederick, Gambardella Antonio, Tinuper Paolo, Licchetta Laura, Scheffer Ingrid E, Criscuolo Chiara, Filla Alessandro, Ferlazzo Edoardo, Ahmad Jamil, Ahmad Adeel, Baykan Betul, Said Edith, Topcu Meral, Riguzzi Patrizia, King Mary D, Ozkara Cigdem, Andrade Danielle M, Engelsen Bernt A, Crespel Arielle, Lindenau Matthias, Lohmann Ebba, Saletti Veronica, Massano João, Privitera Michael, Espay Alberto J, Kauffmann Birgit, Duchowny Michael, Møller Rikke S, Straussberg Rachel, Afawi Zaid, Ben-Zeev Bruria, Samocha Kaitlin E, Daly Mark J, Petrou Steven, Lerche Holger, Palotie Aarno, Lehesjoki Anna-Elina

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

PNKP基因突变会导致小头畸形、癫痫和DNA修复缺陷。

Shen, Jun; Gilmore, Edward C; Marshall, Christine A; Haddadin, Mary; Reynolds, John J; Eyaid, Wafaa; Bodell, Adria; Barry, Brenda; Gleason, Danielle; Allen, Kathryn; Ganesh, Vijay S; Chang, Bernard S; Grix, Arthur; Hill, R Sean; Topcu, Meral; Caldecott, Keith W; Barkovich, A James; Walsh, Christopher A

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

伴有先天性关节挛缩的环侧裂多小脑回综合征

Poduri, Annapurna; Chitsazzadeh, Vida; D'Arrigo, Stefano; Fedrizzi, Ermellina; Pantaleoni, Chiara; Riva, Daria; Busse, Claudia; Küster, Helmut; Duplessis, Adre; Gaitanis, John; Sahin, Mustafa; Garganta, Cheryl; Topcu, Meral; Dies, Kira A; Barry, Brenda J; Partlow, Jennifer; Barkovich, A James; Walsh, Christopher A; Chang, Bernard S

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

新型神经元蜡样脂褐质沉积症基因MFSD8编码一种推定的溶酶体转运蛋白

Siintola, Eija; Topcu, Meral; Aula, Nina; Lohi, Hannes; Minassian, Berge A; Paterson, Andrew D; Liu, Xiao-Qing; Wilson, Callum; Lahtinen, Ulla; Anttonen, Anna-Kaisa; Lehesjoki, Anna-Elina