242PLong-term natural history observations of FHL1-related reducing body myopathy from childhood to adulthood
Pitchamol Vilaisaktipakorn, P. Mohassel, Pomi Yun, S. Donkervoort et autres
0 citationsNeuromuscular Disorders
Pomi Yun
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30Publications signalées
262Citations signalées
4Affiliations récentes
Institutions déclarées
Domaines associés
Muscle Physiology and DisordersCardiomyopathy and Myosin StudiesCell Adhesion Molecules ResearchGenetic Neurodegenerative DiseasesNuclear Structure and Function
Publications récentes
394PMyotonic dystrophy type 2 as a phenotypic mimicker of inclusion body myositis
Pomi Yun, Abhay Moghekar, P. Mohassel
0 citationsNeuromuscular Disorders
Collagen type VI regulates TGF-β bioavailability in skeletal muscle in mice
Payam Mohassel, Hailey Hearn, Jachinta E. Rooney, Yaqun Zou et autres
14 citationsJournal of Clinical Investigation
Clinical characterization of Collagen XII ‐related disease caused by biallelic COL12A1 variants
Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty et autres
4 citationsAnnals of Clinical and Translational Neurology
491P PIEZO2 loss of function syndrome: a highly specific and recognizable phenotype
Diana Bharucha‐Goebel, Michael Lee, D. Saade, Sandra Donkervoort et autres
0 citationsNeuromuscular Disorders
51P Clinical characterization of collagen XII-related disease caused by biallelic COL12A1 variants
S. Donkervoort, Richard McCarty, Dimah Saade, Pinki Munot et autres
0 citationsNeuromuscular Disorders
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy
A. Reghan Foley, Pomi Yun, M. Leach, Sarah Neuhaus et autres
5 citationsNeurology Genetics
A comprehensive study of skeletal muscle imaging in FHL1 ‐related reducing body myopathy
Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra et autres
6 citationsAnnals of Clinical and Translational Neurology
Collagen type VI regulates TGFβ bioavailability in skeletal muscle
Payam Mohassel, Jachinta E. Rooney, Yaqun Zou, Kory R. Johnson et autres
7 citationsbioRxiv (Cold Spring Harbor Laboratory)
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun et autres
17 citationsEMBO Molecular Medicine
International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history
Rabah Ben Yaou, Pomi Yun, Adele D’Amico, Muntoni Francesco et autres
0 citationsINRIA a CCSD electronic archive server
International retrospective natural history study of LMNA -related congenital muscular dystrophy
Rabah Ben Yaou, Pomi Yun, Ivana Dabaj, Gina Norato et autres
37 citationsBrain Communications
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