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1 . Academic Journal
Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy
저자
by
Cohen, Justin
;
DeSimone, Alec
;
Lek, Monkol
;
Lek, Angela
.
소스
In
Trends in Molecular Medicine
February 2021 27(2):123-137
Full Text (Clinical Key)
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Scopus
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6 . Academic Journal
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
저자
by
Marchant, Rhett G.
;
Bryen, Samantha J.
;
Bahlo, Melanie
;
Cairns, Anita
;
Chao, Katherine R.
, et al.
소스
Annals of Clinical & Translational Neurology
. May2024, Vol. 11 Issue 5, p1250-1266. 17p.
Open Access (Wiley)
Scopus
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7 . Academic Journal
Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseases.
저자
by
Xuefei Tian
;
Pedigo, Christopher E.
;
Ke Li
;
Xiaotao Ma
;
Bunda, Patricia
, et al.
소스
Journal of Clinical Investigation
. 12/15/2023, Vol. 133 Issue 24, p1-18. 18p.
Scopus
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7 . Academic Journal
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle.
저자
by
Zygmunt, Deborah A.
;
Lam, Patricia
;
Ashbrook, Anna
;
Koczwara, Katherine
;
Lek, Angela
, et al.
소스
Journal of Neuromuscular Diseases; 2023, Vol. 10 Issue 5, p797-812, 16p
Scopus
Web of Science
Find it @ DONGA
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7 . Academic Journal
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.
저자
by
Hong, Yun Soo
;
Battle, Stephanie L.
;
Shi, Wen
;
Puiu, Daniela
;
Pillalamarri, Vamsee
, et al.
소스
Nature Communications; 9/30/2023, Vol. 14 Issue 1, p1-16, 16p
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7 . Academic Journal
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
저자
by
Amarasekera, Sumudu S C
;
Hock, Daniella H
;
Lake, Nicole J
;
Calvo, Sarah E
;
Grønborg, Sabine W
, et al.
소스
Human Molecular Genetics; Aug2023, Vol. 32 Issue 15, p2441-2454, 14p
Full Text (OUP)
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7 . Academic Journal
α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse
저자
by
Yang, Nan
;
Schindeler, Aaron
;
McDonald, Michelle M.
;
Seto, Jane T.
;
Houweling, Peter J.
, et al.
소스
In
Bone
October 2011 49(4):790-798
Full Text (Clinical Key)
Full Text (ScienceDirect)
Scopus
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7 . Academic Journal
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients
저자
by
Waddell, Leigh B.
;
Tran, Jenny
;
Zheng, Xi F.
;
Bönnemann, Carsten G.
;
Hu, Ying
, et al.
소스
In
Neuromuscular Disorders
2011 21(11):776-781
Full Text (Clinical Key)
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7 . Academic Journal
Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins α-actinin-2 and α-actinin-3 as modulators of biological sensors
저자
by
Lek, Monkol
;
North, Kathryn N.
.
소스
In
FEBS Letters
2010 584(14):2974-2980
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
Scopus
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4 . Periodical
Development of Assays to Measure GNEGene Potency and Gene Replacement in Skeletal Muscle
저자
by
Zygmunt, Deborah A.
;
Lam, Patricia
;
Ashbrook, Anna
;
Koczwara, Katherine
;
Lek, Angela
, et al.
소스
Journal of Neuromuscular Diseases; September 2023, Vol. 10 Issue: 5 p797-812, 16p
Scopus
Web of Science
Find it @ DONGA
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