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

2

Hereditary motor and sensory neuropathies: a biological perspective.

Shy ME, Garbern JY, Kamholz J. Shy ME, et al. Among authors: kamholz j. Lancet Neurol. 2002 Jun;1(2):110-8. doi: 10.1016/s1474-4422(02)00042-x. Lancet Neurol. 2002. PMID: 12849515 Review.

3

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. Among authors: kamholz j. Brain. 2004 Feb;127(Pt 2):371-84. doi: 10.1093/brain/awh048. Epub 2004 Jan 7. Brain. 2004. PMID: 14711881 Review.

4

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.

5

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

6

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.

7

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.

8

Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion.

Jerath NU, Kamholz J, Grider T, Harper A, Swenson A, Shy ME. Jerath NU, et al. Among authors: kamholz j. Muscle Nerve. 2015 Nov;52(5):905-8. doi: 10.1002/mus.24713. Epub 2015 Jun 19. Muscle Nerve. 2015. PMID: 26012543 Free PMC article.

9

PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E.

Wang DS, Wu X, Bai Y, Zaidman C, Grider T, Kamholz J, Lupski JR, Connolly AM, Shy ME. Wang DS, et al. Among authors: kamholz j. Ann Clin Transl Neurol. 2017 Mar 12;4(4):236-245. doi: 10.1002/acn3.395. eCollection 2017 Apr. Ann Clin Transl Neurol. 2017. PMID: 28382305 Free PMC article.

10

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.

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