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Dietary intervention rescues myopathy associated with neurofibromatosis type 1. [electronic resource] by
- Summers, Matthew A
- Rupasinghe, Thusitha
- Vasiljevski, Emily R
- Evesson, Frances J
- Mikulec, Kathy
- Peacock, Lauren
- Quinlan, Kate GR
- Cooper, Sandra T
- Roessner, Ute
- Stevenson, David A
- Little, David G
- Schindeler, Aaron
Producer: 20190107
In:
Human molecular genetics vol. 27
Availability: No items available.
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Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle function. [electronic resource] by
- Girgis, Christian M
- Cha, Kuan Minn
- So, Benjamin
- Tsang, Michael
- Chen, Jennifer
- Houweling, Peter J
- Schindeler, Aaron
- Stokes, Rebecca
- Swarbrick, Michael M
- Evesson, Frances J
- Cooper, Sandra T
- Gunton, Jenny E
Producer: 20200727
In:
Journal of cachexia, sarcopenia and muscle vol. 10
Availability: No items available.
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8.
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A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. [electronic resource] by
- Waddell, Leigh B
- Tran, Jenny
- Zheng, Xi F
- Bönnemann, Carsten G
- Hu, Ying
- Evesson, Frances J
- Lek, Monkol
- Arbuckle, Susan
- Wang, Min-Xia
- Smith, Robert L
- North, Kathryn N
- Clarke, Nigel F
Producer: 20120217
In:
Neuromuscular disorders : NMD vol. 21
Availability: No items available.
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9.
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Identification and Characterization of a Novel Broad-Spectrum Virus Entry Inhibitor. [electronic resource] by
- Chou, Yi-Ying
- Cuevas, Christian
- Carocci, Margot
- Stubbs, Sarah H
- Ma, Minghe
- Cureton, David K
- Chao, Luke
- Evesson, Frances
- He, Kangmin
- Yang, Priscilla L
- Whelan, Sean P
- Ross, Susan R
- Kirchhausen, Tom
- Gaudin, Raphaël
Producer: 20160825
In:
Journal of virology vol. 90
Availability: No items available.
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10.
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Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. [electronic resource] by
- Lo, Harriet P
- Cooper, Sandra T
- Evesson, Frances J
- Seto, Jane T
- Chiotis, Maria
- Tay, Valerie
- Compton, Alison G
- Cairns, Anita G
- Corbett, Alistair
- MacArthur, Daniel G
- Yang, Nan
- Reardon, Katrina
- North, Kathryn N
Producer: 20080520
In:
Neuromuscular disorders : NMD vol. 18
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11.
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Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. [electronic resource] by
- Riley, Lisa G
- Waddell, Leigh B
- Ghaoui, Roula
- Evesson, Frances J
- Cummings, Beryl B
- Bryen, Samantha J
- Joshi, Himanshu
- Wang, Min-Xia
- Brammah, Susan
- Kritharides, Leonard
- Corbett, Alastair
- MacArthur, Daniel G
- Cooper, Sandra T
Producer: 20200615
In:
European journal of human genetics : EJHG vol. 27
Availability: No items available.
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12.
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Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophy. [electronic resource] by
- Piper, Ann-Katrin
- Sophocleous, Reece A
- Ross, Samuel E
- Evesson, Frances J
- Saleh, Omar
- Bournazos, Adam
- Yasa, Joe
- Reed, Claudia
- Woolger, Natalie
- Sluyter, Ronald
- Greer, Peter
- Biro, Maté
- Lemckert, Frances A
- Cooper, Sandra T
Producer: 20200803
In:
American journal of physiology. Cell physiology vol. 318
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13.
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Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly. [electronic resource] by
- Bryen, Samantha J
- Joshi, Himanshu
- Evesson, Frances J
- Girard, Cyrille
- Ghaoui, Roula
- Waddell, Leigh B
- Testa, Alison C
- Cummings, Beryl
- Arbuckle, Susan
- Graf, Nicole
- Webster, Richard
- MacArthur, Daniel G
- Laing, Nigel G
- Davis, Mark R
- Lührmann, Reinhard
- Cooper, Sandra T
Producer: 20200402
In:
American journal of human genetics vol. 105
Availability: No items available.
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14.
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Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch. [electronic resource] by
- Waddell, Leigh B
- Lemckert, Frances A
- Zheng, Xi F
- Tran, Jenny
- Evesson, Frances J
- Hawkes, Joanne M
- Lek, Angela
- Street, Neil E
- Lin, Peihui
- Clarke, Nigel F
- Landstrom, Andrew P
- Ackerman, Michael J
- Weisleder, Noah
- Ma, Jianjie
- North, Kathryn N
- Cooper, Sandra T
Producer: 20110527
In:
Journal of neuropathology and experimental neurology vol. 70
Availability: No items available.
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15.
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Clinical presentation and proteomic signature of patients with TANGO2 mutations. [electronic resource] by
- Mingirulli, Nadja
- Pyle, Angela
- Hathazi, Denisa
- Alston, Charlotte L
- Kohlschmidt, Nicolai
- O'Grady, Gina
- Waddell, Leigh
- Evesson, Frances
- Cooper, Sandra B T
- Turner, Christian
- Duff, Jennifer
- Topf, Ana
- Yubero, Delia
- Jou, Cristina
- Nascimento, Andrés
- Ortez, Carlos
- García-Cazorla, Angels
- Gross, Claudia
- O'Callaghan, Maria
- Santra, Saikat
- Preece, Maryanne A
- Champion, Michael
- Korenev, Sergei
- Chronopoulou, Efsthatia
- Anirban, Majumdar
- Pierre, Germaine
- McArthur, Daniel
- Thompson, Kyle
- Navas, Placido
- Ribes, Antonia
- Tort, Frederic
- Schlüter, Agatha
- Pujol, Aurora
- Montero, Raquel
- Sarquella, Georgia
- Lochmüller, Hanns
- Jiménez-Mallebrera, Cecilia
- Taylor, Robert W
- Artuch, Rafael
- Kirschner, Janbernd
- Grünert, Sarah C
- Roos, Andreas
- Horvath, Rita
Producer: 20210702
In:
Journal of inherited metabolic disease vol. 43
Availability: No items available.
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