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1
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome
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Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome

Ramirez-Martinez, Andres ; Zhang, Yichi ; van den Boogaard, Marie-Jose ; McAnally, John R ; Rodriguez-Caycedo, Cristina ; Chai, Andreas C ; Chemello, Francesco ; Massink, Maarten Pg ; Cuppen, Inge ; Elferink, Martin G ; van Es, Robert Jj ; Janssen, Nard G ; Walraven-van Oijen, Linda Pam ; Liu, Ning ; Bassel-Duby, Rhonda ; van Jaarsveld, Richard H ; Olson, Eric N

The Journal of clinical investigation, 2022-06, Vol.132 (11), p.1-11 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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2
CRISPR-Cas9 base editing of pathogenic CaMKII[delta] improves cardiac function in a humanized mouse model
CRISPR-Cas9 base editing of pathogenic CaMKII[delta] improves cardiac function in a humanized mouse model
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CRISPR-Cas9 base editing of pathogenic CaMKII[delta] improves cardiac function in a humanized mouse model

Lebek, Simon ; Caravia, Xurde M ; Straub, Leon G ; Alzhanov, Damir ; Tan, Wei ; Li, Hui ; McAnally, John R ; Chen, Kenian ; Xu, Lin ; Scherer, Philipp E ; Liu, Ning ; Bassel-Duby, Rhonda ; Olson, Eric N

The Journal of clinical investigation, 2024-01, Vol.134 (1) [Periódico revisado por pares]

American Society for Clinical Investigation

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3
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
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KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

Garg, Ankit ; O'Rourke, Jason ; Long, Chengzu ; Doering, Jonathan ; Ravenscroft, Gianina ; Bezprozvannaya, Svetlana ; Nelson, Benjamin R ; Beetz, Nadine ; Li, Lin ; Chen, She ; Laing, Nigel G ; Grange, Robert W ; Bassel-Duby, Rhonda ; Olson, Eric N

The Journal of clinical investigation, 2014-08, Vol.124 (8), p.3529-3539 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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4
CRISPR-Cas9 base editing of pathogenic CaMKIIδ improves cardiac function in a humanized mouse model
CRISPR-Cas9 base editing of pathogenic CaMKIIδ improves cardiac function in a humanized mouse model
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CRISPR-Cas9 base editing of pathogenic CaMKIIδ improves cardiac function in a humanized mouse model

Lebek, Simon ; Caravia, Xurde M ; Straub, Leon G ; Alzhanov, Damir ; Tan, Wei ; Li, Hui ; McAnally, John R ; Chen, Kenian ; Xu, Lin ; Scherer, Philipp E ; Liu, Ning ; Bassel-Duby, Rhonda ; Olson, Eric N

The Journal of clinical investigation, 2024-01, Vol.134 (1), p.1-13 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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5
Detection of a frequent restriction fragment length polymorphism in the human T cell antigen receptor beta chain locus: a potential diagnostic tool
Detection of a frequent restriction fragment length polymorphism in the human T cell antigen receptor beta chain locus: a potential diagnostic tool
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Detection of a frequent restriction fragment length polymorphism in the human T cell antigen receptor beta chain locus: a potential diagnostic tool

BERLINER, N ; DUBY, A. D ; MORTON, C. C ; LEDER, P ; SEIDMAN, J. G

The Journal of clinical investigation, 1985-09, Vol.76 (3), p.1283-1285 [Periódico revisado por pares]

Ann Arbor, MI: American Society for Clinical Investigation

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