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

Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort

扩展SPG7罕见致病变异的表型谱:来自匈牙利队列的启示

Jimoh, Idris Janos; Balicza, Peter; Szlepak, Tamas; Csaban, Dora; Gal, Aniko; Geresi, Adrienn; Grosz, Zoltan; Palasti, Agnes; Boczan, Judit; Klivenyi, Peter; Molnar, Maria Judit

GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights

匈牙利GBA相关帕金森病:临床特征和遗传学见解

Szlepák, Tamás; Kossev, Annabel P; Csabán, Dóra; Illés, Anett; Udvari, Szabolcs; Balicza, Péter; Borsos, Beáta; Takáts, Annamária; Klivényi, Péter; Molnár, Mária J

MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans

MSTO1是一种胞质前线粒体融合蛋白,其突变会导致人类肌病和共济失调。

Gal, Aniko; Balicza, Peter; Weaver, David; Naghdi, Shamim; Joseph, Suresh K; Várnai, Péter; Gyuris, Tibor; Horváth, Attila; Nagy, Laszlo; Seifert, Erin L; Molnar, Maria Judit; Hajnóczky, György

Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications

MECP2相关线粒体功能障碍的多层次证据及其治疗意义

Balicza, Peter; Gezsi, Andras; Fedor, Mariann; Sagi, Judit C; Gal, Aniko; Varga, Noemi Agnes; Molnar, Maria Judit

Genetic landscape of early-onset dementia in Hungary

匈牙利早发性痴呆症的遗传图谱

Csaban, Dora; Illes, Anett; Renata, Toth-Bencsik; Balicza, Peter; Pentelenyi, Klara; Molnar, Viktor; Gezsi, Andras; Grosz, Zoltan; Gal, Aniko; Kovacs, Tibor; Klivenyi, Peter; Molnar, Maria Judit

New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family

基于对一个匈牙利大家族的长期随访,对磷脂酶A2相关神经退行性表型有了新的认识

Toth-Bencsik, Renata; Balicza, Peter; Varga, Edina Timea; Lengyel, Andras; Rudas, Gabor; Gal, Aniko; Molnar, Maria Judit

Wernicke-Korsakoff syndrome associated with mtDNA disease

与线粒体DNA疾病相关的韦尼克-科尔萨科夫综合征

Jimoh, Idris Janos; Sebe, Barbara; Balicza, Peter; Fedor, Mariann; Pataky, Ilona; Rudas, Gabor; Gal, Aniko; Inczedy-Farkas, Gabriella; Nemeth, Gyorgy; Molnar, Maria Judit

Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability

具有复杂遗传结构并以此为基础的新型显性MPAN家族,是表型变异的基础

Balicza, Peter; Bencsik, Renata; Lengyel, Andras; Gal, Aniko; Grosz, Zoltan; Csaban, Dora; Rudas, Gabor; Danics, Krisztina; Kovacs, Gabor G; Molnar, Maria Judit

Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients

对匈牙利自闭症谱系障碍患者队列中101个自闭症相关基因罕见变异的综合分析

Balicza, Péter; Varga, Noémi Ágnes; Bolgár, Bence; Pentelényi, Klára; Bencsik, Renáta; Gál, Anikó; Gézsi, András; Prekop, Csilla; Molnár, Viktor; Molnár, Mária Judit

Dynamic interaction of genetic risk factors and cocaine abuse in the background of Parkinsonism - a case report

帕金森病背景下遗传风险因素与可卡因滥用的动态相互作用——病例报告

Illés, Anett; Balicza, Péter; Molnár, Viktor; Bencsik, Renáta; Szilvási, István; Molnar, Maria Judit