E-LIB Suche - Ergebnisse für: Foley, A. Reghan

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/..

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..

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...

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..

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..

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..

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..