Garcia C - Search Results

1

MELAS: clinical features, biochemistry, and molecular genetics.

Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, et al. Ciafaloni E, et al. Among authors: garcia c. Ann Neurol. 1992 Apr;31(4):391-8. doi: 10.1002/ana.410310408. Ann Neurol. 1992. PMID: 1586140

2

Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy.

Hoffman EP, Garcia CA, Chamberlain JS, Angelini C, Lupski JR, Fenwick R. Hoffman EP, et al. Among authors: garcia ca. Ann Neurol. 1991 Oct;30(4):605-10. doi: 10.1002/ana.410300414. Ann Neurol. 1991. PMID: 1789686

3

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.

Chou FL, Angelini C, Daentl D, Garcia C, Greco C, Hausmanowa-Petrusewicz I, Fidzianska A, Wessel H, Hoffman EP. Chou FL, et al. Among authors: garcia c. Neurology. 1999 Mar 23;52(5):1015-20. doi: 10.1212/wnl.52.5.1015. Neurology. 1999. PMID: 10102422

4

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei.

Pegoraro E, Schimke RN, Garcia C, Stern H, Cadaldini M, Angelini C, Barbosa E, Carroll J, Marks WA, Neville HE, Marks H, Appleton S, Toriello H, Wessel HB, Donnelly J, Bernes SM, Taber JW, Weiss L, Hoffman EP. Pegoraro E, et al. Among authors: garcia c. Neurology. 1995 Apr;45(4):677-90. doi: 10.1212/wnl.45.4.677. Neurology. 1995. PMID: 7723955

5

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

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, Bertorini T, Acsadi G, Thompson CE, Gagnon D, Hoganson G, Carver V, Zimmerman RA, Hoffman EP. Pegoraro E, et al. Among authors: garcia ca. Neurology. 1998 Jul;51(1):101-10. doi: 10.1212/wnl.51.1.101. Neurology. 1998. PMID: 9674786

6

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

7

Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.

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. Tezak Z, et al. Among authors: garcia c. Hum Mutat. 2003 Feb;21(2):103-11. doi: 10.1002/humu.10157. Hum Mutat. 2003. PMID: 12552556

8

Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.

Roa BB, Garcia CA, Lupski JR. Roa BB, et al. Among authors: garcia ca. Int J Neurol. 1991-1992;25-26:97-107. Int J Neurol. 1991. PMID: 11980069 Review.

9

Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.

Bidichandani SI, Garcia CA, Patel PI, Dimachkie MM. Bidichandani SI, et al. Among authors: garcia ca. Arch Neurol. 2000 Feb;57(2):246-51. doi: 10.1001/archneur.57.2.246. Arch Neurol. 2000. PMID: 10681084

10

Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP.

Lupski JR, Chance PF, Garcia CA. Lupski JR, et al. Among authors: garcia ca. JAMA. 1993 Nov 17;270(19):2326-30. doi: 10.1001/jama.270.19.2326. JAMA. 1993. PMID: 8230595 No abstract available.

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