Lein N H Dofash
3PUBLICATIONS
14CO-AUTHORS
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Publications (3)
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|Jun 28, 2025
Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.Lein N H Dofash, Chiara Folland, Jason Dyke
|Nov 12, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.Lein N H Dofash, Lee B Miles, Yoshihiko Saito
|Feb 19, 2024
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement.Mridul Johari, Ana Topf, Chiara Folland
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Frequent Collaborators
2 joint publications
Gianina Ravenscroft
1 joint publications
Mridul Johari
1 joint publications
Chiara Folland
1 joint publications
Yoshihiko Saito
1 joint publications
Vanessa Calcinotto
1 joint publications
Rita J Serrano
1 joint publications
Georg Ramm
1 joint publications
Svetlana Gorokhova
1 joint publications
Monica Traverso
1 joint publications
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