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Foley, A. Reghan
235
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Online (235)
Mediatypes
Articles (Online) (81)
OpenAccess-fulltext (154)
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1
The experience of clinical study and trial participation in..:
Stinissen, Lizan
;
Bouma, Sietse
;
Böhm, Johann
...
Neuromuscular Disorders. 38 (2024) - p. 1-7 , 2024
Link:
https://doi.org/10.1016/..
?
2
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a r..:
Donkervoort, Sandra
;
Mohassel, Payam
;
O'Leary, Melanie
...
Annals of Clinical and Translational Neurology. 11 (2024) 3 - p. 629-640 , 2024
Link:
https://doi.org/10.1002/..
?
3
Rycal S48168 (ARM210) for RYR1-related myopathies: a phase ..:
Todd, Joshua J.
;
Lawal, Tokunbor A.
;
Chrismer, Irene C.
...
eClinicalMedicine. 68 (2024) - p. 102433 , 2024
Link:
https://doi.org/10.1016/..
?
4
Clinical, immunohistochemical, and genetic characterization..:
Geist Hauserman, Janelle
;
Laverty, Chamindra G.
;
Donkervoort, Sandra
...
Human Genetics and Genomics Advances. 5 (2024) 2 - p. 100274 , 2024
Link:
https://doi.org/10.1016/..
?
5
Lessons Learned From Clinical Studies in Centronuclear Myop..:
Stinissen, Lizan
;
Böhm, Johann
;
Bouma, Sietse
...
Clinical Therapeutics. , 2024
Link:
https://doi.org/10.1016/..
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6
European Joint Programme on Rare Diseases workshop: LAMA2-m..:
Smeets, Hubert
;
Verbrugge, Bram
;
Bulbena, Xavier
...
Neuromuscular Disorders. 36 (2024) - p. 16-22 , 2024
Link:
https://doi.org/10.1016/..
?
7
Effects of gene replacement therapy with resamirigene bilpa..:
Lawlor, Michael W.
;
Schoser, Benedikt
;
Margeta, Marta
...
eBioMedicine. 99 (2024) - p. 104894 , 2024
Link:
https://doi.org/10.1016/..
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8
CIAO1 loss of function causes a neuromuscular disorder with..:
Maio, Nunziata
;
Orbach, Rotem
;
Zaharieva, Irina T.
...
Journal of Clinical Investigation. 134 (2024) 12 - p. , 2024
Link:
https://doi.org/10.1172/..
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9
Recurrent de novoSPTLC2variant causes childhood-onset amyot..:
Syeda, Safoora B
;
Lone, Museer A
;
Mohassel, Payam
...
Journal of Neurology, Neurosurgery & Psychiatry. 95 (2023) 2 - p. 103-113 , 2023
Link:
https://doi.org/10.1136/..
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10
Variants in DTNA cause a mild, dominantly inherited muscula..:
Nascimento, Andres
;
Bruels, Christine C.
;
Donkervoort, Sandra
...
Acta Neuropathologica. 145 (2023) 4 - p. 479-496 , 2023
Link:
https://doi.org/10.1007/..
?
11
A comprehensive study of skeletal muscle imaging in FHL1‐re..:
Mohassel, Payam
;
Yun, Pomi
;
Syeda, Safoora
...
Annals of Clinical and Translational Neurology. 10 (2023) 8 - p. 1442-1455 , 2023
Link:
https://doi.org/10.1002/..
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12
Bi-allelic variants in HMGCR cause an autosomal-recessive p..:
Morales-Rosado, Joel A.
;
Schwab, Tanya L.
;
Macklin-Mantia, Sarah K.
...
The American Journal of Human Genetics. 110 (2023) 6 - p. 989-997 , 2023
Link:
https://doi.org/10.1016/..
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13
Safety and efficacy of gene replacement therapy for X-linke..:
Shieh, Perry B
;
Kuntz, Nancy L
;
Dowling, James J
...
The Lancet Neurology. 22 (2023) 12 - p. 1125-1139 , 2023
Link:
https://doi.org/10.1016/..
?
14
Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:
Kim, Hong Joo
;
Mohassel, Payam
;
Donkervoort, Sandra
...
Nature Communications. 13 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1038/..
?
15
Cross-sectional Neuromuscular Phenotyping Study of Patients..:
Mohassel, Payam
;
Chang, Ning
;
Inoue, Kaoru
...
Neurology. 98 (2022) 13 - p. , 2022
Link:
https://doi.org/10.1212/..
1-15