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Foley, A. Reghan
154
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1
Rycal S48168 (ARM210) for RYR1-related myopathies: a phase ..:
Joshua J. Todd
;
Tokunbor A. Lawal
;
Irene C. Chrismer
...
http://www.sciencedirect.com/science/article/pii/S2589537024000129. , 2024
Link:
https://doi.org/10.1016/..
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2
A comprehensive study of skeletal muscle imaging in FHL1-re..:
Mohassel, Payam
;
Yun, Pomi
;
Syeda, Safoora
...
10.1002/acn3.51834. , 2023
Link:
http://hdl.handle.net/10..
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3
Bi-allelic variants in HMGCR cause an autosomal-recessive p..:
Morales-Rosado, Joel A
;
Schwab, Tanya L
;
Macklin-Mantia, Sarah K
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257193/. , 2023
Link:
http://www.ncbi.nlm.nih...
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4
Improving genetic diagnosis in Mendelian disease with trans..:
Cummings, Beryl B
;
Marshall, Jamie L
;
Tukiainen, Taru
...
Science Translational Medicine, Vol.9 No.386, p. eaal5209. , 2023
Link:
https://hdl.handle.net/1..
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5
Recurrent de novo SPTLC2 variant causes childhood-onset amy..:
Syeda, Safoora B
;
Lone, Museer A
;
Mohassel, Payam
...
https://discovery.ucl.ac.uk/id/eprint/10183851/1/jnnp-2023-332132.full.pdf. , 2023
Link:
https://discovery.ucl.ac..
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6
A comprehensive study of skeletal muscle imaging in FHL1‐re..:
Payam Mohassel
;
Pomi Yun
;
Safoora Syeda
...
https://doi.org/10.1002/acn3.51834. , 2023
Link:
https://doi.org/10.1002/..
?
7
Effects of gene replacement therapy with resamirigene bilpa..:
Lawlor, Michael W
;
Schoser, Benedikt
;
Margeta, Marta
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10758703/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
8
Safety and efficacy of gene replacement therapy for X-linke..:
Shieh, Perry B
;
Kuntz, Nancy L
;
Dowling, James J
...
https://discovery.ucl.ac.uk/id/eprint/10182401/1/PIIS1474442223003137.pdf. , 2023
Link:
https://discovery.ucl.ac..
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9
A comprehensive study of skeletal muscle imaging in FHL1 ‐r..:
Mohassel, Payam
;
Yun, Pomi
;
Syeda, Safoora
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10424657/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
10
Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:
Kim, Hong Joo
;
Mohassel, Payam
;
Donkervoort, Sandra
...
https://discovery.ucl.ac.uk/id/eprint/10147964/1/s41467-022-30015-1.pdf. , 2022
Link:
https://discovery.ucl.ac..
?
11
Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:
Kim, Hong Joo
;
Mohassel, Payam
;
Donkervoort, Sandra
...
https://boris.unibe.ch/169644/. , 2022
Link:
https://boris.unibe.ch/1..
?
12
Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:
Kim, Hong Joo
;
Mohassel, Payam
;
Donkervoort, Sandra
...
https://jdc.jefferson.edu/bmpfp/216. , 2022
Link:
https://jdc.jefferson.ed..
?
13
Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:
Hong Joo Kim
;
Payam Mohassel
;
Sandra Donkervoort
...
https://doi.org/10.1038/s41467-022-30015-1. , 2022
Link:
https://doi.org/10.1038/..
?
14
Cross-sectional Neuromuscular Phenotyping Study of Patients..:
Mohassel, Payam
;
Chang, Ning
;
Inoue, Kaoru
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8967428/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
15
Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:
Kim, Hong Joo
;
Mohassel, Payam
;
Donkervoort, Sandra
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-022-30015-1. , 2022
Link:
https://hal.inrae.fr/hal..
1-15