Garcia CA - Search Results

1

Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies.

Saifi GM, Szigeti K, Snipes GJ, Garcia CA, Lupski JR. Saifi GM, et al. Among authors: garcia ca. J Investig Med. 2003 Sep;51(5):261-83. doi: 10.1136/jim-51-05-14. J Investig Med. 2003. PMID: 14577517 Review.

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: garcia ca. Ann Neurol. 2002 Feb;51(2):190-201. doi: 10.1002/ana.10089. Ann Neurol. 2002. PMID: 11835375

3

Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.

Szigeti K, Garcia CA, Lupski JR. Szigeti K, et al. Among authors: garcia ca. Genet Med. 2006 Feb;8(2):86-92. doi: 10.1097/01.gim.0000200160.29385.73. Genet Med. 2006. PMID: 16481890 Free article.

4

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.

Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U. Patel PI, et al. Among authors: garcia ca. Nat Genet. 1992 Jun;1(3):159-65. doi: 10.1038/ng0692-159. Nat Genet. 1992. PMID: 1303228

5

Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.

Lupski JR, Garcia CA. Lupski JR, et al. Among authors: garcia ca. Brain Pathol. 1992 Oct;2(4):337-49. doi: 10.1111/j.1750-3639.1992.tb00710.x. Brain Pathol. 1992. PMID: 1341967 Review.

6

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR. Wise CA, et al. Among authors: garcia ca. Am J Hum Genet. 1993 Oct;53(4):853-63. Am J Hum Genet. 1993. PMID: 8105684 Free PMC article.

7

Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.

Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR. Roa BB, et al. Among authors: garcia ca. Nat Genet. 1993 Oct;5(2):189-94. doi: 10.1038/ng1093-189. Nat Genet. 1993. PMID: 8252046

8

Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR. Roa BB, et al. Among authors: garcia ca. N Engl J Med. 1993 Jul 8;329(2):96-101. doi: 10.1056/NEJM199307083290205. N Engl J Med. 1993. PMID: 8510709 Free article.

9

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.

Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR. Roa BB, et al. Among authors: garcia ca. Hum Mutat. 1996;7(1):36-45. doi: 10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N. Hum Mutat. 1996. PMID: 8664899

10

Charcot-Marie-Tooth disease and related inherited neuropathies.

Murakami T, Garcia CA, Reiter LT, Lupski JR. Murakami T, et al. Among authors: garcia ca. Medicine (Baltimore). 1996 Sep;75(5):233-50. doi: 10.1097/00005792-199609000-00001. Medicine (Baltimore). 1996. PMID: 8862346 Free article. Review.

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