Pesquisa | Biblioteca Virtual em Saúde

1.

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

Felice, Kevin J; Whitaker, Charles H.

Muscle Nerve ; 68(5): 758-762, 2023 11.

Artigo em Inglês | MEDLINE | ID: mdl-37638785

2.

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

Felice, Kevin J; Whitaker, Charles H; Khorasanizadeh, Sadaf.

Muscle Nerve ; 64(4): 454-461, 2021 10.

Artigo em Inglês | MEDLINE | ID: mdl-34232518

3.

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

Whitaker, Charles H; Felice, Kevin J; Silvers, David; Wu, Qian.

Muscle Nerve ; 52(2): 289-93, 2015 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-25556768

4.

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

Ranta-Aho, Johanna; Felice, Kevin J; Jonson, Per Harald; Sarparanta, Jaakko; Palmio, Johanna; Tasca, Giorgio; Sabatelli, Mario; Yvorel, Cédric; Harzallah, Ines; Touraine, Renaud; Pais, Lynn; Austin-Tse, Christina A; Ganesh, Vijay; O'Leary, Melanie C; Rehm, Heidi L; Hehir, Michael K; Subramony, Sub; Wu, Qian; Udd, Bjarne; Savarese, Marco.

medRxiv ; 2024 Jan 17.

Artigo em Inglês | MEDLINE | ID: mdl-38293186

5.

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

Roy, Bhaskar; Wu, Qian; Whitaker, Charles H; Felice, Kevin J.

J Clin Neuromuscul Dis ; 22(3): 135-146, 2021 Mar 01.

Artigo em Inglês | MEDLINE | ID: mdl-33595997

6.

Distal Myopathies.

Felice, Kevin J.

Neurol Clin ; 38(3): 637-659, 2020 08.

Artigo em Inglês | MEDLINE | ID: mdl-32703474

7.

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

Alessi, Catherine E; Wu, Qian; Whitaker, Charles H; Felice, Kevin J.

J Clin Neuromuscul Dis ; 22(1): 22-34, 2020 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-32833721

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, Kevin J; Whitaker, Charles H; Wu, Qian.

Neuromuscul Disord ; 28(4): 339-345, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-29567349

9.

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, Kevin J; Whitaker, Charles H; Wu, Qian; Larose, Daniel T; Shen, Guo; Metzger, Allan L; Barton, Randall W.

Neuromuscul Disord ; 28(8): 660-664, 2018 08.

Artigo em Inglês | MEDLINE | ID: mdl-30001928

10.

Postinfectious myasthenia gravis: report of two children.

Felice, Kevin J; DiMario, Francis J; Conway, Stephen R.

J Child Neurol ; 20(5): 441-4, 2005 May.

Artigo em Inglês | MEDLINE | ID: mdl-15968930

11.

Benign calf amyotrophy: clinicopathologic study of 8 patients.

Felice, Kevin J; Whitaker, Charles H; Grunnet, Margaret L.

Arch Neurol ; 60(10): 1415-20, 2003 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-14568812

12.

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

Ray, Arundhati; Amato, Anthony A; Bradshaw, Elizabeth M; Felice, Kevin J; DiCapua, Daniel B; Goldstein, Jonathan M; Lundberg, Ingrid E; Nowak, Richard J; Ploegh, Hidde L; Spooner, Eric; Wu, Qian; Willis, Simon N; O'Connor, Kevin C.

PLoS One ; 7(10): e46709, 2012.

Artigo em Inglês | MEDLINE | ID: mdl-23071619

13.

Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.

Saechao, Chai; Valles-Ayoub, Yadira; Esfandiarifard, Saghi; Haghighatgoo, Arman; No, Daniel; Shook, Steven; Mendell, Jerry R; Rosales-Quintero, Xiomara; Felice, Kevin J; Morel, Chantal F; Pietruska, Marvin; Darvish, Daniel.

Genet Test Mol Biomarkers ; 14(2): 157-62, 2010 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-20059379

14.

The Clinical Features of Facioscapulohumeral Muscular Dystrophy Associated With Borderline (>/=35 kb) 4q35 EcoRI Fragments.

Felice, Kevin J; Whitaker, Charles H.

J Clin Neuromuscul Dis ; 6(3): 119-26, 2005 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-19078760

15.

Facioscapulohumeral dystrophy presenting as infantile facial diplegia and late-onset limb-girdle myopathy in members of the same family.

Felice, Kevin J; Jones, Jennifer M; Conway, Stephen R.

Muscle Nerve ; 32(3): 368-72, 2005 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-15880682

16.

Monofocal motor neuropathy: Improvement with intravenous immunoglobulin.

Felice, Kevin J; Goldstein, Jonathan M.

Muscle Nerve ; 25(5): 674-678, 2002 May.

Artigo em Inglês | MEDLINE | ID: mdl-11994960

17.

Apparent conduction block in patients with ulnar neuropathy at the elbow and proximal Martin-Gruber anastomosis.

Whitaker, Charles H; Felice, Kevin J.

Muscle Nerve ; 30(6): 808-11, 2004 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-15316981

18.

Recovery from distal ulnar motor conduction block injury: serial EMG studies.

Montoya, Liliana; Felice, Kevin J.

Muscle Nerve ; 26(1): 145-9, 2002 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-12115961

19.

Biopsy-proven alpha-glucosidase deficiency with normal lymphocyte enzyme activity.

Whitaker, Charles H; Felice, Kevin J; Natowicz, Marvin.

Muscle Nerve ; 29(3): 440-2, 2004 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-14981745

20.

Multiple recurrences of diabetic muscle infarction: case report and literature review.

Hachwi, Rami N; Whitaker, Charles H; Felice, Kevin J.

J Clin Neuromuscul Dis ; 5(2): 96-102, 2003 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-19078727

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