Bonilla E - Search Results

1

Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.

Wilhelmsen KC, Blake DM, Lynch T, Mabutas J, De Vera M, Neystat M, Bernstein M, Hirano M, Gilliam TC, Murphy PL, Sola MD, Bonilla E, Schotland DL, Hays AP, Rowland LP. Wilhelmsen KC, et al. Among authors: bonilla e. Ann Neurol. 1996 Apr;39(4):507-20. doi: 10.1002/ana.410390413. Ann Neurol. 1996. PMID: 8619529 Review.

2

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.

Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camaño P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M. Quinzii CM, et al. Among authors: bonilla e. Am J Hum Genet. 2008 Jan;82(1):208-13. doi: 10.1016/j.ajhg.2007.09.013. Am J Hum Genet. 2008. PMID: 18179901 Free PMC article.

3

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.

Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, Hays AP, Lovelace RE, Butler I, Bertorini TE, et al. Hirano M, et al. Among authors: bonilla e. Neurology. 1994 Apr;44(4):721-7. doi: 10.1212/wnl.44.4.721. Neurology. 1994. PMID: 8164833

4

Quantitative ultrastructural study of muscle satellite cells in Duchenne dystrophy.

Wakayama Y, Schotland DL, Bonilla E, Orecchio E. Wakayama Y, et al. Among authors: bonilla e. Neurology. 1979 Mar;29(3):401-7. doi: 10.1212/wnl.29.3.401. Neurology. 1979. PMID: 571989

5

Duchenne dystrophy: focal alterations in the distribution of concanavalin A binding sites at the muscle cell surface.

Bonilla E, Schotland DL, Wakayama Y. Bonilla E, et al. Ann Neurol. 1978 Aug;4(2):117-23. doi: 10.1002/ana.410040205. Ann Neurol. 1978. PMID: 707982

6

Alteration in erythrocyte membrane structure in Duchenne muscular dystrophy.

Wakayama Y, Hodson A, Pleasure D, Bonilla E, Schotland DL. Wakayama Y, et al. Among authors: bonilla e. Ann Neurol. 1978 Sep;4(3):253-6. doi: 10.1002/ana.410040311. Ann Neurol. 1978. PMID: 718137

7

Becker muscular dystrophy or spinal muscular atrophy?--Dystrophin studies resolve conflicting results of electromyography and muscle biopsy.

McDonald TD, Medori R, Younger DS, Chang HW, Minetti C, Uncini A, Bonilla E, Hays AP, Lovelace RE. McDonald TD, et al. Among authors: bonilla e. Neuromuscul Disord. 1991;1(3):195-200. doi: 10.1016/0960-8966(91)90024-m. Neuromuscul Disord. 1991. PMID: 1822794

8

Partial dystrophin deficiency in monozygous twin carriers of the Duchenne gene discordant for clinical myopathy.

Bonilla E, Younger DS, Chang HW, Tantravahi U, Miranda AF, Medori R, DiMauro S, Warburton D, Rowland LP. Bonilla E, et al. Neurology. 1990 Aug;40(8):1267-70. doi: 10.1212/wnl.40.8.1267. Neurology. 1990. PMID: 2199849

9

Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.

Bonilla E, Samitt CE, Miranda AF, Hays AP, Salviati G, DiMauro S, Kunkel LM, Hoffman EP, Rowland LP. Bonilla E, et al. Cell. 1988 Aug 12;54(4):447-52. doi: 10.1016/0092-8674(88)90065-7. Cell. 1988. PMID: 3042151

10

Immunocytochemical study of dystrophin in muscle cultures from patients with Duchenne muscular dystrophy and unaffected control patients.

Miranda AF, Bonilla E, Martucci G, Moraes CT, Hays AP, Dimauro S. Miranda AF, et al. Among authors: bonilla e. Am J Pathol. 1988 Sep;132(3):410-6. Am J Pathol. 1988. PMID: 3046367 Free PMC article.

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