Krajewski K - Search Results

1

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.

Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR. Saifi GM, et al. Among authors: krajewski k. Hum Mutat. 2005 Apr;25(4):372-83. doi: 10.1002/humu.20153. Hum Mutat. 2005. PMID: 15776429

2

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. Among authors: krajewski k. Ann Neurol. 2002 Feb;51(2):190-201. doi: 10.1002/ana.10089. Ann Neurol. 2002. PMID: 11835375

3

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

4

Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease.

Lewis RA, Li J, Fuerst DR, Shy ME, Krajewski K. Lewis RA, et al. Among authors: krajewski k. Muscle Nerve. 2003 Aug;28(2):161-7. doi: 10.1002/mus.10419. Muscle Nerve. 2003. PMID: 12872319 Clinical Trial.

5

Charcot-Marie-Tooth neuropathies: diagnosis and management.

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

6

Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME. Krajewski KM, et al. Brain. 2000 Jul;123 ( Pt 7):1516-27. doi: 10.1093/brain/123.7.1516. Brain. 2000. PMID: 10869062 Clinical Trial.

7

Neuropathy progression in Charcot-Marie-Tooth disease type 1A.

Shy ME, Chen L, Swan ER, Taube R, Krajewski KM, Herrmann D, Lewis RA, McDermott MP. Shy ME, et al. Among authors: krajewski km. Neurology. 2008 Jan 29;70(5):378-83. doi: 10.1212/01.wnl.0000297553.36441.ce. Neurology. 2008. PMID: 18227419

8

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. Ann Neurol. 2002 Oct;52(4):429-34. doi: 10.1002/ana.10305. Ann Neurol. 2002. PMID: 12325071

9

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM. Züchner S, et al. Among authors: krajewski km. Ann Neurol. 2006 Feb;59(2):276-81. doi: 10.1002/ana.20797. Ann Neurol. 2006. PMID: 16437557

10

Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy.

Kamholz J, Menichella D, Jani A, Garbern J, Lewis RA, Krajewski KM, Lilien J, Scherer SS, Shy ME. Kamholz J, et al. Among authors: krajewski km. Brain. 2000 Feb;123 ( Pt 2):222-33. doi: 10.1093/brain/123.2.222. Brain. 2000. PMID: 10648431 Review.

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