R01 NS085238/NS/NINDS NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2015	2
2016	1
2017	1
2018	2
2020	2
2021	3
2022	3
2023	2
2024	0

1

The effect of ascertainment on penetrance estimates for rare variants: Implications for establishing pathogenicity and for genetic counselling.

Paterson AD, Seok SC, Vieland VJ. Paterson AD, et al. PLoS One. 2023 Sep 21;18(9):e0290336. doi: 10.1371/journal.pone.0290336. eCollection 2023. PLoS One. 2023. PMID: 37733810 Free PMC article.

2

A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity.

Flanigan KM, Waldrop MA, Martin PT, Alles R, Dunn DM, Alfano LN, Simmons TR, Moore-Clingenpeel M, Burian J, Seok SC, Weiss RB, Vieland VJ. Flanigan KM, et al. Eur J Hum Genet. 2023 Jun;31(6):663-673. doi: 10.1038/s41431-023-01329-5. Epub 2023 Mar 20. Eur J Hum Genet. 2023. PMID: 36935420

3

Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.

Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan KM. Waldrop MA, et al. Hum Mutat. 2022 Apr;43(4):511-528. doi: 10.1002/humu.24343. Epub 2022 Mar 7. Hum Mutat. 2022. PMID: 35165973 Free PMC article.

4

Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications.

Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, Previtali S, Flanigan KM; Italian DMD Network and the United Dystrophinopathy Project. Zambon AA, et al. Neurology. 2022 Feb 15;98(7):e730-e738. doi: 10.1212/WNL.0000000000013246. Epub 2021 Dec 22. Neurology. 2022. PMID: 34937785 Free PMC article.

5

Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies.

Vetter TA, Nicolau S, Bradley AJ, Frair EC, Flanigan KM. Vetter TA, et al. Neuropathol Appl Neurobiol. 2022 Apr;48(3):e12785. doi: 10.1111/nan.12785. Epub 2021 Dec 28. Neuropathol Appl Neurobiol. 2022. PMID: 34847621 Free PMC article.

6

The PPLD has advantages over conventional regression methods in application to moderately sized genome-wide association studies.

Vieland VJ, Seok SC. Vieland VJ, et al. PLoS One. 2021 Sep 22;16(9):e0257164. doi: 10.1371/journal.pone.0257164. eCollection 2021. PLoS One. 2021. PMID: 34550985 Free PMC article.

7

X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.

Barthélémy I, Calmels N, Weiss RB, Tiret L, Vulin A, Wein N, Peccate C, Drougard C, Beroud C, Deburgrave N, Thibaud JL, Escriou C, Punzón I, Garcia L, Kaplan JC, Flanigan KM, Leturcq F, Blot S. Barthélémy I, et al. Skelet Muscle. 2020 Aug 7;10(1):23. doi: 10.1186/s13395-020-00239-0. Skelet Muscle. 2020. PMID: 32767978 Free PMC article.

8

Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review.

Waldrop MA, Yaou RB, Lucas KK, Martin AS, O'Rourke E; FILNEMUS; Ferlini A, Muntoni F, Leturcq F, Tuffery-Giraud S, Weiss RB, Flanigan KM. Waldrop MA, et al. J Neuromuscul Dis. 2020;7(3):217-229. doi: 10.3233/JND-200483. J Neuromuscul Dis. 2020. PMID: 32417793

9

Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.

Weiss RB, Vieland VJ, Dunn DM, Kaminoh Y, Flanigan KM; United Dystrophinopathy Project. Weiss RB, et al. Ann Neurol. 2018 Aug;84(2):234-245. doi: 10.1002/ana.25283. Epub 2018 Aug 25. Ann Neurol. 2018. PMID: 30014611 Free PMC article.

10

Low-level dystrophin expression attenuating the dystrophinopathy phenotype.

Waldrop MA, Gumienny F, El Husayni S, Frank DE, Weiss RB, Flanigan KM. Waldrop MA, et al. Neuromuscul Disord. 2018 Feb;28(2):116-121. doi: 10.1016/j.nmd.2017.11.007. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29305136 Free PMC article.

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