de Winter, Josine M.; Molenaar, Joery P.; Yuen, Michaela; van der Pijl, Robbert; Shen, Shengyi; Conijn, Stefan; van de Locht, Martijn; Willigenburg, Menne; Bogaards, Sylvia J. P.; van Kleef, Esmee S. B.; Lassche, Saskia; Persson, Malin; Rassier, Dilson E.; Sztal, Tamar E.; Ruparelia, Avnika A.; Oorschot, Viola; Ramm, Georg; Hall, Thomas E.; Xiong, Zherui; Johnson, Christopher N.; Li, Frank; Kiss, Balazs; Lozano-Vidal, Noelia; Boon, Reinier A.; Marabita, Manuela; Nogara, Leonardo; Blaauw, Bert; Rodenburg, Richard J.; Kusters, Benno; Doorduin, Jonne; Beggs, Alan H.; Granzier, Henk; Campbell, Ken; Ma, Weikang; Irving, Thomas; Malfatti, Edoardo; Romero, Norma B.; Bryson-Richardson, Robert J.; van Engelen, Baziel G. M.; Voermans, Nicol C.; Ottenheijm, Coen A. C.

Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein

PLOS GENETICS

IF3.7

2018-02-0839

OAAI

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

氧化还原酶PYROXD1的变体会导致早发性肌病，并伴有内在化的核和肌原纤维紊乱

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2016-11-0150

OAAI

O'Grady, Gina L.; Best, Heather A.; Sztal, Tamar E.; Schartner, Vanessa; Sanjuan-Vazquez, Tvlyriam; Donkervoort, Sandra; Neto, Osorio Abath; Sutton, Roger Bryan; Ilkovski, Biljana; Romero, Norma Beatriz; Stojkovic, Tanya; Dastgir, Jahannaz; Waddell, Leigh B.; Boland, Anne; Hu, Ying; Williams, Caitlin; Ruparelia, Avnika A.; Maisonobe, Thierry; Peduto, Anthony J.; Reddel, Stephen W.; Lek, Monkol; Tukiainen, Tam; Cummings, Beryl B.; Joshi, Himanshu; Nectoux, Juliette; Brammah, Susan; Deleuze, Jean-Francois; Ing, Viola Oorschot; Ramm, Georg; Ardicli, Didem; Nowak, Kristen J.; Talim, Beril; Topaloglu, Haluk; Laing, Nigel G.; North, Kathryn N.; MacArthur, Daniel G.; Friant, Sylvie; Clarke, Nigel F.; Bryson-Richardson, Robert J.; Bonnemann, Carsten G.; Laporte, Jocelyn; Cooper, Sandra T.

Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage

HUMAN MOLECULAR GENETICS

IF3.2

2016-05-1976

OAAI

FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency

HUMAN MOLECULAR GENETICS

IF3.2

2016-03-1147

OAAI

Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency

ACTA NEUROPATHOLOGICA