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

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

作者更正:ABCD3基因中的CCG扩增会导致欧洲血统个体出现眼咽远端肌病。

Cortese, Andrea; Beecroft, Sarah J; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K; Dofash, Lein; Johari, Mridul; Grosz, Bianca R; Ellis, Melina; Fearnley, Liam G; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B; Storey, Elsdon; Gardner, Mac; Amor, David J; Nicholson, Garth; Vucic, Steve; Henderson, Robert D; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A; Laing, Nigel G; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G; Deveson, Ira W; Lockhart, Paul J; Lamont, Phillipa J; Fahey, Michael C; Bugiardini, Enrico; Ravenscroft, Gianina

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

在2249例神经肌肉疾病患者中应用靶向基因检测:澳大利亚转诊中心的经验

Beecroft, Sarah J; Yau, Kyle S; Allcock, Richard J N; Mina, Kym; Gooding, Rebecca; Faiz, Fathimath; Atkinson, Vanessa J; Wise, Cheryl; Sivadorai, Padma; Trajanoski, Daniel; Kresoje, Nina; Ong, Royston; Duff, Rachael M; Cabrera-Serrano, Macarena; Nowak, Kristen J; Pachter, Nicholas; Ravenscroft, Gianina; Lamont, Phillipa J; Davis, Mark R; Laing, Nigel G

Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP

隐性遗传的夏科-马里-图斯病和多发性硬化症与MCM3AP基因变异相关

Sedghi, Maryam; Moslemi, Ali-Reza; Cabrera-Serrano, Macarena; Ansari, Behnaz; Ghasemi, Majid; Baktashian, Mojtaba; Fattahpour, Ali; Tajsharghi, Homa

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

罗姆人创始人BIN1基因突变导致一种新的中心核肌病表型,伴有脊柱僵硬

Cabrera-Serrano, Macarena; Mavillard, Fabiola; Biancalana, Valerie; Rivas, Eloy; Morar, Bharti; Hernández-Laín, Aurelio; Olive, Montse; Muelas, Nuria; Khan, Eduardo; Carvajal, Alejandra; Quiroga, Pablo; Diaz-Manera, Jordi; Davis, Mark; Ávila, Rainiero; Domínguez, Cristina; Romero, Norma Beatriz; Vílchez, Juan J; Comas, David; Laing, Nigel G; Laporte, Jocelyn; Kalaydjieva, Luba; Paradas, Carmen