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

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

HMGCS1 变异体可导致脊柱僵硬综合征,在动物模型中可通过甲羟戊酸治疗治愈

Dofash Lein N H, Miles Lee B, Saito Yoshihiko, Rivas Eloy, Calcinotto Vanessa, Oveissi Sara, Serrano Rita J, Templin Rachel, Ramm Georg, Rodger Alison, Haywood Joel, Ingley Evan, Clayton Joshua S, Taylor Rhonda L, Folland Chiara L, Groth David, Hock Daniella H, Stroud David A, Gorokhova Svetlana, Donkervoort Sandra, Bönnemann Carsten G, Sud Malika, VanNoy Grace E, Mangilog Brian E, Pais Lynn, O'Donnell-Luria Anne, Madruga-Garrido Marcos, Scala Marcello, Fiorillo Chiara, Baratto Serena, Traverso Monica, Malfatti Edoardo, Bruno Claudio, Zara Federico, Paradas Carmen, Ogata Katsuhisa, Nishino Ichizo, Laing Nigel G, Bryson-Richardson Robert J, Cabrera-Serrano Macarena, Ravenscroft Gianina

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum

先天性肌钙蛋白病:疾病谱中最严重阶段的全面特征描述

Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S; Griffin, Kaitlyn R; Jones, Kristi J; Vilain, Catheline N; Kadhim, Hazim; Bryen, Samantha J; Faiz, Fathimath; Waddell, Leigh B; Evesson, Frances J; Bakshi, Madhura; Pinner, Jason R; Charlton, Amanda; Brammah, Susan; Graf, Nicole S; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C; Illingworth, Marjorie A; Thomas, Neil H; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J; Splitt, Miranda P; Moldovan, Corina; de Silva, Deepthi C; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T; Laing, Nigel G; Raymond, F Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M; Ravenscroft, Gianina; Wilkins, Marc R; Cowley, Mark J; Pinese, Mark; Phadke, Rahul; Davis, Mark R; Muntoni, Francesco; Oates, Emily C

An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene

骨骼肌α-肌动蛋白(ACTA1)基因变异的最新报道

Clayton, Joshua S; Johari, Mridul; Taylor, Rhonda L; Dofash, Lein; Allan, Georgina; Monahan, Gavin; Houweling, Peter J; Ravenscroft, Gianina; Laing, Nigel G

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

神经遗传性胎儿运动不能和关节挛缩症:遗传学、扩展的基因型-表型和功能基因组学

Ravenscroft, Gina; Clayton, Joshua S; Faiz, Fathimath; Sivadorai, Padma; Milnes, Di; Cincotta, Rob; Moon, Phillip; Kamien, Ben; Edwards, Matthew; Delatycki, Martin; Lamont, Phillipa J; Chan, Sophelia Hs; Colley, Alison; Ma, Alan; Collins, Felicity; Hennington, Lucinda; Zhao, Teresa; McGillivray, George; Ghedia, Sondhya; Chao, Katherine; O'Donnell-Luria, Anne; Laing, Nigel G; Davis, Mark R

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

亚太地区两个 CANVAS 家族中发现新的 RFC1 重复基序 (ACAGG)

Scriba, Carolin K; Beecroft, Sarah J; Clayton, Joshua S; Cortese, Andrea; Sullivan, Roisin; Yau, Wai Yan; Dominik, Natalia; Rodrigues, Miriam; Walker, Elizabeth; Dyer, Zoe; Wu, Teddy Y; Davis, Mark R; Chandler, David C; Weisburd, Ben; Houlden, Henry; Reilly, Mary M; Laing, Nigel G; Lamont, Phillipa J; Roxburgh, Richard H; Ravenscroft, Gianina

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.

在具有 Neb 基因错义突变和无义突变的复合杂合子小鼠模型中,Nebulin 线粒体肌病得以重现

Laitila Jenni M, McNamara Elyshia L, Wingate Catherine D, Goullee Hayley, Ross Jacob A, Taylor Rhonda L, van der Pijl Robbert, Griffiths Lisa M, Harries Rachel, Ravenscroft Gianina, Clayton Joshua S, Sewry Caroline, Lawlor Michael W, Ottenheijm Coen A C, Bakker Anthony J, Ochala Julien, Laing Nigel G, Wallgren-Pettersson Carina, Pelin Katarina, Nowak Kristen J

STRetch: detecting and discovering pathogenic short tandem repeat expansions

STRetch:检测和发现致病性短串联重复序列扩增

Dashnow, Harriet; Lek, Monkol; Phipson, Belinda; Halman, Andreas; Sadedin, Simon; Lonsdale, Andrew; Davis, Mark; Lamont, Phillipa; Clayton, Joshua S; Laing, Nigel G; MacArthur, Daniel G; Oshlack, Alicia