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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Autor: 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

Publikováno v: Nature Communications; 10/18/2024, Vol. 15 Issue 1, p1-15, 15p

Recessive MYH7-related myopathy in two families

Autor: Beecroft, Sarah J., van de Locht, Martijn, de Winter, Josine M., Ottenheijm, Coen A., Sewry, Caroline A., Mohammed, Shehla, Ryan, Monique M., Woodcock, Ian R., Sanders, Lauren, Gooding, Rebecca, Davis, Mark R., Oates, Emily C., Laing, Nigel G., Ravenscroft, Gianina, McLean, Catriona A., Jungbluth, Heinz

Publikováno v: In Neuromuscular Disorders June 2019 29(6):456-467

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

Autor: Beecroft, Sarah J.¹ (AUTHOR) sarah.beecroft@uwa.edu.au, Yau, Kyle S.¹ (AUTHOR), Allcock, Richard J. N.² (AUTHOR), Mina, Kym³ (AUTHOR), Gooding, Rebecca³ (AUTHOR), Faiz, Fathimath³ (AUTHOR), Atkinson, Vanessa J.^2,3 (AUTHOR), Wise, Cheryl³ (AUTHOR), Sivadorai, Padma³ (AUTHOR), Trajanoski, Daniel³ (AUTHOR), Kresoje, Nina² (AUTHOR), Ong, Royston¹ (AUTHOR), Duff, Rachael M.¹ (AUTHOR), Cabrera‐Serrano, Macarena⁴ (AUTHOR), Nowak, Kristen J.^1,5 (AUTHOR), Pachter, Nicholas^6,7 (AUTHOR), Ravenscroft, Gianina¹ (AUTHOR), Lamont, Phillipa J.⁸ (AUTHOR), Davis, Mark R.³ (AUTHOR), Laing, Nigel G.^1,3 (AUTHOR)

Publikováno v: Annals of Clinical & Translational Neurology. Mar2020, Vol. 7 Issue 3, p353-362. 10p.