Carlos A. Garcia, MD

Affiliations: 
Pathology Tulane University, New Orleans, LA, United States 
Google:
"Carlos Garcia"
Bio:

deceased

http://www.som.tulane.edu/classware/pathology/medical_pathology/neuropathology/start_here.htm

Mean distance: 106866
 
Cross-listing: Neuropathology Tree

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Publications

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Szigeti K, Garcia CA, Lupski JR. (2006) 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
Saifi GM, Szigeti K, Snipes GJ, et al. (2003) 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
Tezak Z, Prandini P, Boscaro M, et al. (2003) Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. Human Mutation. 21: 103-11
Boerkoel CF, Takashima H, Garcia CA, et al. (2002) Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Annals of Neurology. 51: 190-201
Boerkoel CF, Takashima H, Stankiewicz P, et al. (2001) Periaxin mutations cause recessive Dejerine-Sottas neuropathy. American Journal of Human Genetics. 68: 325-33
Bidichandani SI, Garcia CA, Patel PI, et al. (2000) Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions. Archives of Neurology. 57: 246-51
Gutierrez A, England JD, Sumner AJ, et al. (2000) Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle & Nerve. 23: 182-8
Richard I, Bourg N, Marchand S, et al. (1999) A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies. Neuromuscular Disorders : Nmd. 9: 555-63
Scacheri PC, Garcia C, Hébert R, et al. (1999) 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
Chou FL, Angelini C, Daentl D, et al. (1999) Calpain III mutation analysis of a heterogeneous limb–girdle muscular dystrophy population Neurology. 52: 1015-1015
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