Felice KJ - Search Results

1

Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.

Ranta-Aho J, Felice KJ, Jonson PH, Sarparanta J, Palmio J, Tasca G, Sabatelli M, Yvorel C, Harzallah I, Touraine R, Pais L, Austin-Tse CA, Ganesh V, O'Leary MC, Rehm HL, Hehir MK, Subramony S, Wu Q, Udd B, Savarese M. Ranta-Aho J, et al. Among authors: felice kj. medRxiv [Preprint]. 2024 Jan 17:2024.01.17.23298671. doi: 10.1101/2024.01.17.23298671. medRxiv. 2024. PMID: 38293186 Free PMC article. Preprint.

2

Late-onset facioscapulohumeral muscular dystrophy type 1 in previously undiagnosed families: Presenting clinical features in an often-misdiagnosed disorder.

Felice KJ, Whitaker CH. Felice KJ, et al. Muscle Nerve. 2023 Nov;68(5):758-762. doi: 10.1002/mus.27962. Epub 2023 Aug 28. Muscle Nerve. 2023. PMID: 37638785

3

Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single-site study.

Felice KJ, Whitaker CH, Khorasanizadeh S. Felice KJ, et al. Muscle Nerve. 2021 Oct;64(4):454-461. doi: 10.1002/mus.27368. Epub 2021 Jul 20. Muscle Nerve. 2021. PMID: 34232518

4

Myotonic Muscular Dystrophy Type 2 in CT, USA: A Single-Center Experience With 50 Patients.

Roy B, Wu Q, Whitaker CH, Felice KJ. Roy B, et al. Among authors: felice kj. J Clin Neuromuscul Dis. 2021 Mar 1;22(3):135-146. doi: 10.1097/CND.0000000000000340. J Clin Neuromuscul Dis. 2021. PMID: 33595997

5

Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype.

Alessi CE, Wu Q, Whitaker CH, Felice KJ. Alessi CE, et al. Among authors: felice kj. J Clin Neuromuscul Dis. 2020 Sep;22(1):22-34. doi: 10.1097/CND.0000000000000297. J Clin Neuromuscul Dis. 2020. PMID: 32833721

6

Distal Myopathies.

Felice KJ. Felice KJ. Neurol Clin. 2020 Aug;38(3):637-659. doi: 10.1016/j.ncl.2020.03.007. Epub 2020 Jun 11. Neurol Clin. 2020. PMID: 32703474 Review.

7

Sensitivity and clinical utility of the anti-cytosolic 5'-nucleotidase 1A (cN1A) antibody test in sporadic inclusion body myositis: Report of 40 patients from a single neuromuscular center.

Felice KJ, Whitaker CH, Wu Q, Larose DT, Shen G, Metzger AL, Barton RW. Felice KJ, et al. Neuromuscul Disord. 2018 Aug;28(8):660-664. doi: 10.1016/j.nmd.2018.06.005. Epub 2018 Jun 18. Neuromuscul Disord. 2018. PMID: 30001928

8

Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers.

Felice KJ, Whitaker CH, Wu Q. Felice KJ, et al. Neuromuscul Disord. 2018 Apr;28(4):339-345. doi: 10.1016/j.nmd.2018.02.002. Epub 2018 Feb 8. Neuromuscul Disord. 2018. PMID: 29567349 Review.

9

Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.

Whitaker CH, Felice KJ, Silvers D, Wu Q. Whitaker CH, et al. Among authors: felice kj. Muscle Nerve. 2015 Aug;52(2):289-93. doi: 10.1002/mus.24552. Epub 2015 Feb 11. Muscle Nerve. 2015. PMID: 25556768

10

Autoantibodies produced at the site of tissue damage provide evidence of humoral autoimmunity in inclusion body myositis.

Ray A, Amato AA, Bradshaw EM, Felice KJ, DiCapua DB, Goldstein JM, Lundberg IE, Nowak RJ, Ploegh HL, Spooner E, Wu Q, Willis SN, O'Connor KC. Ray A, et al. Among authors: felice kj. PLoS One. 2012;7(10):e46709. doi: 10.1371/journal.pone.0046709. Epub 2012 Oct 5. PLoS One. 2012. PMID: 23071619 Free PMC article.

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