Kamholz J - Search Results

1

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A.

Kamholz J, Shy M, Scherer S. Kamholz J, et al. Ann Neurol. 1994 Sep;36(3):451-2. doi: 10.1002/ana.410360326. Ann Neurol. 1994. PMID: 8080259 No abstract available.

2

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: kamholz j. Ann Neurol. 2006 Feb;59(2):358-64. doi: 10.1002/ana.20777. Ann Neurol. 2006. PMID: 16437560

3

Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.

Kamholz J, Shy ME. Kamholz J, et al. Neurology. 2004 Jul 13;63(1):194; author reply 194. doi: 10.1212/wnl.63.1.194. Neurology. 2004. PMID: 15249646 No abstract available.

4

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

5

Appearance of PLP mRNA in specific regions of the developing rat lumbosacral spinal cord as revealed by in situ hybridization.

Baron P, Kamholz J, Scherer S, Honda H, Shy M, Scarpini E, Scarlato G, Pleasure D. Baron P, et al. Among authors: kamholz j. Exp Neurol. 1993 May;121(1):139-47. doi: 10.1006/exnr.1993.1080. Exp Neurol. 1993. PMID: 7684334 Free article.

6

Introduction to the Third International Symposium on Charcot-Marie-Tooth disorders.

Shy ME, Kamholz J, Lovelace RE. Shy ME, et al. Among authors: kamholz j. Ann N Y Acad Sci. 1999 Sep 14;883:xiii-xviii. Ann N Y Acad Sci. 1999. PMID: 10586222 Review. No abstract available.

7

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. Brain. 2000 Feb;123 ( Pt 2):222-33. doi: 10.1093/brain/123.2.222. Brain. 2000. PMID: 10648431 Review.

8

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. Among authors: kamholz j. Brain. 2000 Jul;123 ( Pt 7):1516-27. doi: 10.1093/brain/123.7.1516. Brain. 2000. PMID: 10869062 Clinical Trial.

9

Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.

Sabet A, Li J, Ghandour K, Pu Q, Wu X, Kamholz J, Shy ME, Cambi F. Sabet A, et al. Among authors: kamholz j. Neurology. 2006 Oct 10;67(7):1141-6. doi: 10.1212/01.wnl.0000238499.37764.b1. Neurology. 2006. PMID: 17030746

10

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. Among authors: kamholz j. Ann Neurol. 2003 Mar;53(3):354-65. doi: 10.1002/ana.10466. Ann Neurol. 2003. PMID: 12601703 Free PMC article.

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