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

Cerebrospinal Fluid Proenkephalin Predicts Striatal Atrophy Decades before Clinical Motor Diagnosis in Huntington's Disease

脑脊液中前脑啡肽水平可预测亨廷顿病患者纹状体萎缩,且早于临床运动症状的诊断数十年。

Farag, Mena; Murphy, Michael J; Hobbs, Nicola Z; Leocadi, Michela; Fayer, Kate; Thackeray, Olivia; Gobom, Johan; Ciosi, Marc; Heslegrave, Amanda; Zetterberg, Henrik; Langbehn, Douglas R; Monckton, Darren G; Wild, Edward J; Tabrizi, Sarah J; Scahill, Rachael I

Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis

亨廷顿病患者血液中体细胞CAG重复序列扩增与神经退行性变生物标志物相关,且这种关联在临床运动症状出现前数十年就已存在。

Scahill, Rachael I; Farag, Mena; Murphy, Michael J; Hobbs, Nicola Z; Leocadi, Michela; Langley, Christelle; Knights, Harry; Ciosi, Marc; Fayer, Kate; Nakajima, Mitsuko; Thackeray, Olivia; Gobom, Johan; Rönnholm, John; Weiner, Sophia; Hassan, Yara R; Ponraj, Nehaa K P; Estevez-Fraga, Carlos; Parker, Christopher S; Malone, Ian B; Hyare, Harpreet; Long, Jeffrey D; Heslegrave, Amanda; Sampaio, Cristina; Zhang, Hui; Robbins, Trevor W; Zetterberg, Henrik; Wild, Edward J; Rees, Geraint; Rowe, James B; Sahakian, Barbara J; Monckton, Darren G; Langbehn, Douglas R; Tabrizi, Sarah J

Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity

遗传和人口统计学因素决定 Fuchs 内皮角膜营养不良的风险和严重程度

Liu, Siyin; Sadan, Amanda N; Bhattacharyya, Nihar; Zarouchlioti, Christina; Szabo, Anita; Abreu Costa, Marcos; Hafford-Tear, Nathaniel J; Kladny, Anne-Marie S; Dudakova, Lubica; Ciosi, Marc; Moghul, Ismail; Wilkins, Mark R; Allan, Bruce; Skalicka, Pavlina; Hardcastle, Alison J; Pontikos, Nikolas; Bunce, Catey; Monckton, Darren G; Muthusamy, Kirithika; Liskova, Petra; Tuft, Stephen J; Davidson, Alice E

Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype

HTT基因中间等位基因中体细胞CAG重复序列的不稳定性及其与临床表型的潜在关联

Ruiz de Sabando, Ainara; Ciosi, Marc; Galbete, Arkaitz; Cumming, Sarah A; Monckton, Darren G; Ramos-Arroyo, Maria A

Modification of Huntington's disease by short tandem repeats

短串联重复序列对亨廷顿病的影响

Hong, Eun Pyo; Ramos, Eliana Marisa; Aziz, N Ahmad; Massey, Thomas H; McAllister, Branduff; Lobanov, Sergey; Jones, Lesley; Holmans, Peter; Kwak, Seung; Orth, Michael; Ciosi, Marc; Lomeikaite, Vilija; Monckton, Darren G; Long, Jeffrey D; Lucente, Diane; Wheeler, Vanessa C; Gillis, Tammy; MacDonald, Marcy E; Sequeiros, Jorge; Gusella, James F; Lee, Jong-Min

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects

亨廷顿病体细胞扩增和临床表型的遗传修饰因子揭示了共同的和组织特异性的影响。

Lee, Jong-Min; McLean, Zachariah L; Correia, Kevin; Shin, Jun Wan; Lee, Sujin; Jang, Jae-Hyun; Lee, Yukyeong; Kim, Kyung-Hee; Choi, Doo Eun; Long, Jeffrey D; Lucente, Diane; Seong, Ihn Sik; Pinto, Ricardo Mouro; Giordano, James V; Mysore, Jayalakshmi S; Siciliano, Jacqueline; Elezi, Emanuela; Ruliera, Jayla; Gillis, Tammy; Wheeler, Vanessa C; MacDonald, Marcy E; Gusella, James F; Gatseva, Anna; Ciosi, Marc; Lomeikaite, Vilija; Loay, Hossameldin; Monckton, Darren G; Wills, Christopher; Massey, Thomas H; Jones, Lesley; Holmans, Peter; Kwak, Seung; Sampaio, Cristina; Orth, Michael; Bernhard Landwehrmeyer, G; Paulsen, Jane S; Ray Dorsey, E; Myers, Richard H

Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease

miR-124-3p 在 rs3512 位点对 FAN1 的转录后调控是延缓亨廷顿舞蹈症发病的基因修饰的基础

Kyung-Hee Kim, Eun Pyo Hong, Yukyeong Lee, Zachariah L McLean, Emanuela Elezi, Ramee Lee, Seung Kwak, Branduff McAllister, Thomas H Massey, Sergey Lobanov, Peter Holmans, Michael Orth, Marc Ciosi, Darren G Monckton, Jeffrey D Long, Diane Lucente, Vanessa C Wheeler, Marcy E MacDonald, James F Gusella

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease

西班牙HTT基因研究揭示单倍型和等位基因多样性,这可能对亨廷顿病种系扩增动态产生影响。

Ruiz de Sabando, Ainara; Urrutia Lafuente, Edurne; Galbete, Arkaitz; Ciosi, Marc; García Amigot, Fermín; García Solaesa, Virginia; Monckton, Darren G; Ramos-Arroyo, Maria A

Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset

亨廷顿氏病患者的外显子组测序表明 FAN1 核酸酶活性可减缓 CAG 扩增和疾病发作

Branduff McAllister #, Jasmine Donaldson #, Caroline S Binda, Sophie Powell, Uroosa Chughtai, Gareth Edwards, Joseph Stone, Sergey Lobanov, Linda Elliston, Laura-Nadine Schuhmacher, Elliott Rees, Georgina Menzies, Marc Ciosi, Alastair Maxwell, Michael J Chao, Eun Pyo Hong, Diane Lucente, Vanessa Whe

Genetic modifiers of Huntington disease differentially influence motor and cognitive domains

亨廷顿病的遗传修饰因子对运动和认知领域的影响各不相同。

Lee, Jong-Min; Huang, Yuan; Orth, Michael; Gillis, Tammy; Siciliano, Jacqueline; Hong, Eunpyo; Mysore, Jayalakshmi Srinidhi; Lucente, Diane; Wheeler, Vanessa C; Seong, Ihn Sik; McLean, Zachariah L; Mills, James A; McAllister, Branduff; Lobanov, Sergey V; Massey, Thomas H; Ciosi, Marc; Landwehrmeyer, G Bernhard; Paulsen, Jane S; Dorsey, E Ray; Shoulson, Ira; Sampaio, Cristina; Monckton, Darren G; Kwak, Seung; Holmans, Peter; Jones, Lesley; MacDonald, Marcy E; Long, Jeffrey D; Gusella, James F