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Carlos A. Garcia, MD - Publications

Affiliations: 
Pathology Tulane University, New Orleans, LA, United States 
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28 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2006 Szigeti K, Garcia CA, Lupski JR. Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 8: 86-92. PMID 16481890 DOI: 10.1097/01.Gim.0000200160.29385.73  0.355
2003 Saifi GM, Szigeti K, Snipes GJ, Garcia CA, Lupski JR. Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies. Journal of Investigative Medicine : the Official Publication of the American Federation For Clinical Research. 51: 261-83. PMID 14577517 DOI: 10.1136/Jim-51-05-14  0.315
2003 Tezak Z, Prandini P, Boscaro M, Marin A, Devaney J, Marino M, Fanin M, Trevisan CP, Park J, Tyson W, Finkel R, Garcia C, Angelini C, Hoffman EP, Pegoraro E. Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. Human Mutation. 21: 103-11. PMID 12552556 DOI: 10.1002/Humu.10157  0.318
2002 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, et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Annals of Neurology. 51: 190-201. PMID 11835375 DOI: 10.1002/Ana.10089  0.35
2001 Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. American Journal of Human Genetics. 68: 325-33. PMID 11133365 DOI: 10.1086/318208  0.347
2000 Bidichandani SI, Garcia CA, Patel PI, Dimachkie MM. Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions. Archives of Neurology. 57: 246-51. PMID 10681084 DOI: 10.1001/Archneur.57.2.246  0.343
2000 Gutierrez A, England JD, Sumner AJ, Ferer S, Warner LE, Lupski JR, Garcia CA. Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle & Nerve. 23: 182-8. PMID 10639608 DOI: 10.1002/(Sici)1097-4598(200002)23:2<182::Aid-Mus6>3.0.Co;2-W  0.34
1999 Richard I, Bourg N, Marchand S, Alibert O, Eymard B, van der Kooi AJ, Jackson CE, Garcia C, Burgunder JM, Legum C, de Visser M, Fardeau M, Beckmann JS. A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies. Neuromuscular Disorders : Nmd. 9: 555-63. PMID 10619713 DOI: 10.1016/S0960-8966(99)00037-1  0.301
1999 Scacheri PC, Garcia C, Hébert R, Hoffman EP. Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry. American Journal of Medical Genetics. 86: 477-481. PMID 10508991 DOI: 10.1002/(Sici)1096-8628(19991029)86:5<477::Aid-Ajmg14>3.0.Co;2-A  0.349
1999 Chou FL, Angelini C, Daentl D, Garcia C, Greco C, Hausmanowa-Petrusewicz I, Fidzianska A, Wessel H, Hoffman EP. Calpain III mutation analysis of a heterogeneous limb–girdle muscular dystrophy population Neurology. 52: 1015-1015. PMID 10102422 DOI: 10.1212/Wnl.52.5.1015  0.341
1999 Warner LE, Garcia CA, Lupski JR. Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms. Annual Review of Medicine. 50: 263-75. PMID 10073277 DOI: 10.1146/Annurev.Med.50.1.263  0.316
1998 Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, Connolly AM, Fanin M, Martinello F, Trevisan CP, Angelini C, Stella A, Scavina M, Munk RL, Servidei S, Bönnemann CC, et al. Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology. 51: 101-10. PMID 9674786 DOI: 10.1212/Wnl.51.1.101  0.327
1996 Pegoraro E, Mancias P, Swerdlow SH, Raikow RB, Garcia C, Marks H, Crawford T, Carver V, Di Cianno B, Hoffman EP. Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy. Annals of Neurology. 40: 782-91. PMID 8957020 DOI: 10.1002/Ana.410400515  0.319
1996 England JD, Garcia CA. Electrophysiological studies in the different genotypes of Charcot-Marie-Tooth disease. Current Opinion in Neurology. 9: 338-42. PMID 8894408 DOI: 10.1097/00019052-199610000-00004  0.316
1996 Kobayashi H, Garcia CA, Tay PN, Hoffman EP. Extensive genetic heterogeneity in the "pure" form of autosomal dominant familial spastic paraplegia (Strümpell's disease). Muscle & Nerve. 19: 1435-8. PMID 8874401 DOI: 10.1002/(Sici)1097-4598(199611)19:11<1435::Aid-Mus8>3.0.Co;2-D  0.303
1996 Haney C, Snipes GJ, Shooter EM, Suter U, Garcia C, Griffin JW, Trapp BD. Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A. Journal of Neuropathology and Experimental Neurology. 55: 290-9. PMID 8786387 DOI: 10.1097/00005072-199603000-00004  0.336
1996 Kobayashi H, Garcia CA, Alfonso G, Marks HG, Hoffman EP. Molecular genetics of familial spastic paraplegia: a multitude of responsible genes. Journal of the Neurological Sciences. 137: 131-8. PMID 8782167 DOI: 10.1016/0022-510X(95)00349-7  0.345
1996 Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Human Mutation. 7: 36-45. PMID 8664899 DOI: 10.1002/(Sici)1098-1004(1996)7:1<36::Aid-Humu5>3.0.Co;2-N  0.373
1995 Garcia CA, Malamut RE, England JD, Parry GS, Liu P, Lupski JR. Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. Neurology. 45: 2090-3. PMID 7501164 DOI: 10.1212/Wnl.45.11.2090  0.314
1993 Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. The New England Journal of Medicine. 329: 96-101. PMID 8510709 DOI: 10.1056/NEJM199307083290205  0.366
1993 Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nature Genetics. 5: 189-94. PMID 8252046 DOI: 10.1038/Ng1093-189  0.355
1993 Lupski JR, Chance PF, Garcia CA. Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP. Jama. 270: 2326-30. PMID 8230595 DOI: 10.1001/Jama.1993.03510190082031  0.396
1992 Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, Martinuzzi A, Mosewich R, Servidei S, Zammarchi E, Bonilla E, et al. MELAS: Clinical features, biochemistry, and molecular genetics Annals of Neurology. 31: 391-398. PMID 1586140 DOI: 10.1002/Ana.410310408  0.326
1992 Lupski JR, Garcia CA. Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A. Brain Pathology (Zurich, Switzerland). 2: 337-49. PMID 1341967 DOI: 10.1111/J.1750-3639.1992.Tb00710.X  0.348
1992 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. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genetics. 1: 159-65. PMID 1303228 DOI: 10.1038/Ng0692-159  0.318
1991 Hoffman EP, Garcia CA, Chamberlain JS, Angelini C, Lupski JR, Fenwick R. Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy. Annals of Neurology. 30: 605-10. PMID 1789686 DOI: 10.1002/Ana.410300414  0.315
1991 Lupski JR, Garcia CA, Zoghbi HY, Hoffman EP, Fenwick RG. Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. American Journal of Medical Genetics. 40: 354-64. PMID 1683155 DOI: 10.1002/Ajmg.1320400323  0.318
1977 Garcia CA, Fleming RH. Reversible corticospinal tract disease due to hyperthyroidism. Archives of Neurology. 34: 647-8. PMID 907539 DOI: 10.1001/Archneur.1977.00500220081018  0.308
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