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Evesson, Frances J.
34  Ergebnisse:
Personensuche X
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1

Genome and RNA sequencing boost neuromuscular diagnoses to ..:

Marchant, Rhett G. ; Bryen, Samantha J. ; Bahlo, Melanie...
Annals of Clinical and Translational Neurology.  11 (2024)  5 - p. 1250-1266 , 2024
Link: https://doi.org/10.1002/..
 
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2

Compound heterozygous splicing variants expand the genotypi..:

Bryen, Samantha J. ; Zhang, Katharine ; Dziaduch, Gregory...
Clinical Genetics.  103 (2023)  5 - p. 553-559 , 2023
Link: https://doi.org/10.1111/..
 
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3

Minimal expression of dysferlin prevents development of dys..:

Yasa, Joe ; Reed, Claudia E. ; Bournazos, Adam M....
Acta Neuropathologica Communications.  11 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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4

Connective tissue presentation in two families expands the ..:

Evesson, Frances J ; Dziaduch, Gregory ; Bryen, Samantha J...
Human Molecular Genetics.  32 (2023)  12 - p. 2084-2092 , 2023
Link: https://doi.org/10.1093/..
 
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5

Prevalence, parameters, and pathogenic mechanisms for splic..:

Bryen, Samantha J. ; Yuen, Michaela ; Joshi, Himanshu...
Human Genetics and Genomics Advances.  3 (2022)  4 - p. 100125 , 2022
Link: https://doi.org/10.1016/..
 
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6

Pathogenic deep intronic MTM1 variant activates a pseudo-ex..:

Bryen, Samantha J. ; Oates, Emily C. ; Evesson, Frances J....
European Journal of Human Genetics.  29 (2020)  1 - p. 61-66 , 2020
Link: https://doi.org/10.1038/..
 
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7

Mice with myocyte deletion of vitamin D receptor have sarco..:

Girgis, Christian M. ; Cha, Kuan Minn ; So, Benjamin...
Journal of Cachexia, Sarcopenia and Muscle.  10 (2019)  6 - p. 1228-1240 , 2019
Link: https://doi.org/10.1002/..
 
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8

Recessive DES cardio/myopathy without myofibrillar aggregat..:

Riley, Lisa G. ; Waddell, Leigh B. ; Ghaoui, Roula...
European Journal of Human Genetics.  27 (2019)  8 - p. 1267-1273 , 2019
Link: https://doi.org/10.1038/..
 
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9

Pathogenic Abnormal Splicing Due to Intronic Deletions that..:

Bryen, Samantha J. ; Joshi, Himanshu ; Evesson, Frances J....
The American Journal of Human Genetics.  105 (2019)  3 - p. 573-587 , 2019
Link: https://doi.org/10.1016/..
 
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10

Clinical presentation and proteomic signature of patients w..:

Mingirulli, Nadja ; Pyle, Angela ; Hathazi, Denisa...
Journal of Inherited Metabolic Disease.  43 (2019)  2 - p. 297-308 , 2019
Link: https://doi.org/10.1002/..
 
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11

Limited proteolysis as a tool to probe the tertiary conform..:

Woolger, Natalie ; Bournazos, Adam ; Sophocleous, Reece A....
Journal of Biological Chemistry.  292 (2017)  45 - p. 18577-18591 , 2017
Link: https://doi.org/10.1074/..
 
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12

Dietary intervention rescues myopathy associated with neuro..:

Summers, Matthew A ; Rupasinghe, Thusitha ; Vasiljevski, Emily R...
Human Molecular Genetics.  27 (2017)  4 - p. 577-588 , 2017
Link: https://doi.org/10.1093/..
 
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13

Calpains, Cleaved Mini-DysferlinC72, and L-Type Channels Un..:

Lek, Angela ; Evesson, Frances J. ; Lemckert, Frances A....
The Journal of Neuroscience.  33 (2013)  12 - p. 5085-5094 , 2013
Link: https://doi.org/10.1523/..
 
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14

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian m..:

Waddell, Leigh B. ; Tran, Jenny ; Zheng, Xi F....
Neuromuscular Disorders.  21 (2011)  11 - p. 776-781 , 2011
Link: https://doi.org/10.1016/..
 
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15

Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in..:

Waddell, Leigh B. ; Lemckert, Frances A. ; Zheng, Xi F....
Journal of Neuropathology & Experimental Neurology.  70 (2011)  4 - p. 302-313 , 2011
Link: https://doi.org/10.1097/..
 
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