Felice K - Search Results

1

Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, Bushby K, Castellan C, Felice K, Mendell J, Merlini L, Shilling C, Wirguin I, Argov Z, Mitrani-Rosenbaum S. Eisenberg I, et al. Among authors: felice k. Hum Mutat. 2003 Jan;21(1):99. doi: 10.1002/humu.9100. Hum Mutat. 2003. PMID: 12497639

2

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS. Scharner J, et al. Among authors: felice k. Hum Mutat. 2011 Feb;32(2):152-67. doi: 10.1002/humu.21361. Epub 2011 Jan 25. Hum Mutat. 2011. PMID: 20848652

3

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

Saechao C, Valles-Ayoub Y, Esfandiarifard S, Haghighatgoo A, No D, Shook S, Mendell JR, Rosales-Quintero X, Felice KJ, Morel CF, Pietruska M, Darvish D. Saechao C, et al. Genet Test Mol Biomarkers. 2010 Apr;14(2):157-62. doi: 10.1089/gtmb.2009.0157. Genet Test Mol Biomarkers. 2010. PMID: 20059379

4

Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.

Brown CA, Scharner J, Felice K, Meriggioli MN, Tarnopolsky M, Bower M, Zammit PS, Mendell JR, Ellis JA. Brown CA, et al. Among authors: felice k. J Hum Genet. 2011 Aug;56(8):589-94. doi: 10.1038/jhg.2011.65. Epub 2011 Jun 23. J Hum Genet. 2011. PMID: 21697856

5

A pilot randomized trial of oxandrolone in inclusion body myositis.

Rutkove SB, Parker RA, Nardin RA, Connolly CE, Felice KJ, Raynor EM. Rutkove SB, et al. Among authors: felice kj. Neurology. 2002 Apr 9;58(7):1081-7. doi: 10.1212/wnl.58.7.1081. Neurology. 2002. PMID: 11940697 Clinical Trial.

6

Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene.

Felice KJ, Schwartz RC, Brown CA, Leicher CR, Grunnet ML. Felice KJ, et al. Neurology. 2000 Jul 25;55(2):275-80. doi: 10.1212/wnl.55.2.275. Neurology. 2000. PMID: 10908904

7

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

Ohno K, Brengman JM, Felice KJ, Cornblath DR, Engel AG. Ohno K, et al. Among authors: felice kj. Am J Hum Genet. 1999 Sep;65(3):635-44. doi: 10.1086/302551. Am J Hum Genet. 1999. PMID: 10441569 Free PMC article.

8

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. J Clin Neuromuscul Dis. 2020 Sep;22(1):22-34. doi: 10.1097/CND.0000000000000297. J Clin Neuromuscul Dis. 2020. PMID: 32833721

9

A randomized, placebo-controlled trial of topiramate in amyotrophic lateral sclerosis.

Cudkowicz ME, Shefner JM, Schoenfeld DA, Brown RH Jr, Johnson H, Qureshi M, Jacobs M, Rothstein JD, Appel SH, Pascuzzi RM, Heiman-Patterson TD, Donofrio PD, David WS, Russell JA, Tandan R, Pioro EP, Felice KJ, Rosenfeld J, Mandler RN, Sachs GM, Bradley WG, Raynor EM, Baquis GD, Belsh JM, Novella S, Goldstein J, Hulihan J; Northeast ALS Consortium. Cudkowicz ME, et al. Among authors: felice kj. Neurology. 2003 Aug 26;61(4):456-64. doi: 10.1212/wnl.61.4.456. Neurology. 2003. PMID: 12939417 Clinical Trial.

10

Adaptive Platform Trials to Transform Amyotrophic Lateral Sclerosis Therapy Development.

Paganoni S, Berry JD, Quintana M, Macklin E, Saville BR, Detry MA, Chase M, Sherman AV, Yu H, Drake K, Andrews J, Shefner J, Chibnik LB, Vestrucci M, Cudkowicz ME; Healey ALS Platform Trial Study Group. Paganoni S, et al. Ann Neurol. 2022 Feb;91(2):165-175. doi: 10.1002/ana.26285. Epub 2022 Jan 10. Ann Neurol. 2022. PMID: 34935174 Review.

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