Krajewski KM - Search Results

1

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.

Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, Kolodny E, Szigeti K, Fischer RA, Saifi GM, Scherer SS, Lupski JR. Shy ME, et al. Among authors: krajewski km. Ann Neurol. 2006 Feb;59(2):358-64. doi: 10.1002/ana.20777. Ann Neurol. 2006. PMID: 16437560

2

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

Paulson HL, Garbern JY, Hoban TF, Krajewski KM, Lewis RA, Fischbeck KH, Grossman RI, Lenkinski R, Kamholz JA, Shy ME. Paulson HL, et al. Among authors: krajewski km. Ann Neurol. 2002 Oct;52(4):429-34. doi: 10.1002/ana.10305. Ann Neurol. 2002. PMID: 12325071

3

Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.

Li J, Bai Y, Ianakova E, Grandis M, Uchwat F, Trostinskaia A, Krajewski KM, Garbern J, Kupsky WJ, Shy ME. Li J, et al. Among authors: krajewski km. J Comp Neurol. 2006 Sep 10;498(2):252-65. doi: 10.1002/cne.21051. J Comp Neurol. 2006. PMID: 16856127

4

Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.

Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME, Nicholson GA. Li J, et al. Among authors: krajewski km. Arch Neurol. 2007 Jul;64(7):974-8. doi: 10.1001/archneur.64.7.974. Arch Neurol. 2007. PMID: 17620487

5

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR. Boerkoel CF, et al. Ann Neurol. 2002 Feb;51(2):190-201. doi: 10.1002/ana.10089. Ann Neurol. 2002. PMID: 11835375

6

Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name.

Li J, Krajewski K, Shy ME, Lewis RA. Li J, et al. Neurology. 2002 Jun 25;58(12):1769-73. doi: 10.1212/wnl.58.12.1769. Neurology. 2002. PMID: 12084875

7

Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.

Shy ME, Hobson G, Jain M, Boespflug-Tanguy O, Garbern J, Sperle K, Li W, Gow A, Rodriguez D, Bertini E, Mancias P, Krajewski K, Lewis R, Kamholz J. Shy ME, et al. Ann Neurol. 2003 Mar;53(3):354-65. doi: 10.1002/ana.10466. Ann Neurol. 2003. PMID: 12601703 Free PMC article.

8

Phenotypic clustering in MPZ mutations.

Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J. Shy ME, et al. Brain. 2004 Feb;127(Pt 2):371-84. doi: 10.1093/brain/awh048. Epub 2004 Jan 7. Brain. 2004. PMID: 14711881 Review.

9

Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies.

Li J, Krajewski K, Lewis RA, Shy ME. Li J, et al. Muscle Nerve. 2004 Feb;29(2):205-10. doi: 10.1002/mus.10521. Muscle Nerve. 2004. PMID: 14755484

10

Charcot-Marie-Tooth neuropathies: diagnosis and management.

Jani-Acsadi A, Krajewski K, Shy ME. Jani-Acsadi A, et al. Semin Neurol. 2008 Apr;28(2):185-94. doi: 10.1055/s-2008-1062264. Semin Neurol. 2008. PMID: 18351520 Review.

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