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

Dual-filament regulation of relaxation in mammalian fast skeletal muscle

哺乳动物快速骨骼肌舒张的双丝调节

Hill, Cameron; Kalakoutis, Michaeljohn; Arcidiacono, Alice; Paradine Cullup, Flair; Wang, Yanhong; Fukutani, Atsuki; Narayanan, Theyencheri; Brunello, Elisabetta; Fusi, Luca; Irving, Malcolm

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification

GNAQ/GNA11嵌合体与血清钙指标异常和微血管神经钙化相关

Knöpfel, Nicole; Zecchin, Davide; Richardson, Hanna; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Cullup, Thomas; Gholam, Karolina; Heales, Simon; Krywawych, Steve; López-Balboa, Pablo; Muwanga-Nanyonjo, Noreen; Ogunbiyi, Olumide; Puvirajasinghe, Clinda; Solman, Lea; Swarbrick, Katherine; Syed, Samira B; Tahir, Zubair; Tisdall, Martin M; Allgrove, Jeremy; Chesover, Alexander D; Aylett, Sarah E; Jacques, Thomas S; Hannan, Fadil M; Löbel, Ulrike; Semple, Robert K; Thakker, Rajesh V; Kinsler, Veronica A

Load-dependence of the activation of myosin filaments in heart muscle

心肌肌球蛋白丝激活的负荷依赖性

Wang, Yanhong; Fusi, Luca; Ovejero, Jesus G; Hill, Cameron; Juma, Samina; Cullup, Flair Paradine; Ghisleni, Andrea; Park-Holohan, So-Jin; Ma, Weikang; Irving, Thomas; Narayanan, Theyencheri; Irving, Malcolm; Brunello, Elisabetta

Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid

伴有智力低下综合征3型的高磷酸酶症:脑脊液异常及吡哆醇和亚叶酸的纠正

Messina, Martina; Manea, Emanuela; Cullup, Thomas; Tuschl, Karin; Batzios, Spyros

Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era

在组学时代,线粒体疾病的诊断仍然充满挑战。

Forny, Patrick; Footitt, Emma; Davison, James E; Lam, Amanda; Woodward, Cathy E; Batzios, Spyros; Bhate, Sanjay; Chakrapani, Anupam; Cleary, Maureen; Gissen, Paul; Grunewald, Stephanie; Hurst, Jane A; Scott, Richard; Heales, Simon; Jacques, Thomas S; Cullup, Thomas; Rahman, Shamima

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

LAMM综合征中三种新的突变和轻微的不对称表型:八例新增病例报告

Al Yassin, Amina; D'Arco, Felice; Morín, Matías; Pagarkar, Waheeda; Harrop-Griffiths, Katherine; Shaida, Azhar; Fernández, Elena; Cullup, Tom; De-Souza, Bianca; Moreno-Pelayo, Miguel Angel; Bitner-Glindzicz, Maria

Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)

常染色体显性遗传线粒体膜蛋白相关神经退行性疾病(MPAN)

Gregory, Allison; Lotia, Mitesh; Jeong, Suh Young; Fox, Rachel; Zhen, Dolly; Sanford, Lynn; Hamada, Jeff; Jahic, Amir; Beetz, Christian; Freed, Alison; Kurian, Manju A; Cullup, Thomas; van der Weijden, Marlous C M; Nguyen, Vy; Setthavongsack, Naly; Garcia, Daphne; Krajbich, Victoria; Pham, Thao; Woltjer, Randy; George, Benjamin P; Minks, Kelly Q; Paciorkowski, Alexander R; Hogarth, Penelope; Jankovic, Joseph; Hayflick, Susan J

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

C11orf70 突变破坏了鞭毛内运输依赖的多种轴丝动力蛋白组装,导致原发性纤毛运动障碍

Mahmoud R Fassad, Amelia Shoemark, Pierrick le Borgne, France Koll, Mitali Patel, Mellisa Dixon, Jane Hayward, Charlotte Richardson, Emily Frost, Lucy Jenkins, Thomas Cullup, Eddie M K Chung, Michel Lemullois, Anne Aubusson-Fleury, Claire Hogg, David R Mitchell, Anne-Marie Tassin, Hannah M Mitchison

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

外动力蛋白重链DNAH9的突变导致纤毛运动缺陷和内脏反位

Fassad, Mahmoud R; Shoemark, Amelia; Legendre, Marie; Hirst, Robert A; Koll, France; le Borgne, Pierrick; Louis, Bruno; Daudvohra, Farheen; Patel, Mitali P; Thomas, Lucie; Dixon, Mellisa; Burgoyne, Thomas; Hayes, Joseph; Nicholson, Andrew G; Cullup, Thomas; Jenkins, Lucy; Carr, Siobhán B; Aurora, Paul; Lemullois, Michel; Aubusson-Fleury, Anne; Papon, Jean-François; O'Callaghan, Christopher; Amselem, Serge; Hogg, Claire; Escudier, Estelle; Tassin, Anne-Marie; Mitchison, Hannah M

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

CCDC103 p.His154Pro 突变的高发率导致原发性纤毛运动障碍,该突变会破坏蛋白质寡聚化,并且与正常的诊断检查结果相关。

Shoemark, Amelia; Moya, Eduardo; Hirst, Robert A; Patel, Mitali P; Robson, Evelyn A; Hayward, Jane; Scully, Juliet; Fassad, Mahmoud R; Lamb, William; Schmidts, Miriam; Dixon, Mellisa; Patel-King, Ramila S; Rogers, Andrew V; Rutman, Andrew; Jackson, Claire L; Goggin, Patricia; Rubbo, Bruna; Ollosson, Sarah; Carr, Siobhán; Walker, Woolf; Adler, Beryl; Loebinger, Michael R; Wilson, Robert; Bush, Andrew; Williams, Hywel; Boustred, Christopher; Jenkins, Lucy; Sheridan, Eamonn; Chung, Eddie M K; Watson, Christopher M; Cullup, Thomas; Lucas, Jane S; Kenia, Priti; O'Callaghan, Christopher; King, Stephen M; Hogg, Claire; Mitchison, Hannah M