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Foley, A. Reghan
231  results:
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1

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/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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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

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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7

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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8

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/..
 
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9

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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10

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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11

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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12

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/..
 
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13

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/..
 
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14

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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15

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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