Vasconcelos O - Search Results

1

Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy.

Sivakumar K, Cervenáková L, Dalakas MC, Leon-Monzon M, Isaacson SH, Nagle JW, Vasconcelos O, Goldfarb LG. Sivakumar K, et al. Among authors: vasconcelos o. Ann Neurol. 1995 Aug;38(2):267-9. doi: 10.1002/ana.410380222. Ann Neurol. 1995. PMID: 7654077

2

GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.

Vasconcelos OM, Raju R, Dalakas MC. Vasconcelos OM, et al. Neurology. 2002 Dec 10;59(11):1776-9. doi: 10.1212/01.wnl.0000039780.13681.ad. Neurology. 2002. PMID: 12473769

3

Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation.

Sivakumar K, Vasconcelos O, Goldfarb L, Dalakas MC. Sivakumar K, et al. Among authors: vasconcelos o. Neurology. 1996 May;46(5):1337-42. doi: 10.1212/wnl.46.5.1337. Neurology. 1996. PMID: 8628478

4

Missense mutations in desmin associated with familial cardiac and skeletal myopathy.

Goldfarb LG, Park KY, Cervenáková L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC. Goldfarb LG, et al. Among authors: vasconcelos o. Nat Genet. 1998 Aug;19(4):402-3. doi: 10.1038/1300. Nat Genet. 1998. PMID: 9697706

5

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.

Dalakas MC, Dagvadorj A, Goudeau B, Park KY, Takeda K, Simon-Casteras M, Vasconcelos O, Sambuughin N, Shatunov A, Nagle JW, Sivakumar K, Vicart P, Goldfarb LG. Dalakas MC, et al. Among authors: vasconcelos o. Neuromuscul Disord. 2003 Mar;13(3):252-8. doi: 10.1016/s0960-8966(02)00271-7. Neuromuscul Disord. 2003. PMID: 12609507

6

Stiff-person Syndrome.

Vasconcelos OM, Dalakas MC. Vasconcelos OM, et al. Curr Treat Options Neurol. 2003 Jan;5(1):79-90. doi: 10.1007/s11940-003-0024-x. Curr Treat Options Neurol. 2003. PMID: 12521565

7

Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.

Vasconcelos O, Sivakumar K, Dalakas MC, Quezado M, Nagle J, Leon-Monzon M, Dubnick M, Gajdusek DC, Goldfarb LG. Vasconcelos O, et al. Proc Natl Acad Sci U S A. 1995 Oct 24;92(22):10322-6. doi: 10.1073/pnas.92.22.10322. Proc Natl Acad Sci U S A. 1995. PMID: 7479776 Free PMC article.

8

Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease.

Higgins JJ, Nee LE, Vasconcelos O, Ide SE, Lavedan C, Goldfarb LG, Polymeropoulos MH. Higgins JJ, et al. Among authors: vasconcelos o. Neurology. 1996 Jan;46(1):208-13. doi: 10.1212/wnl.46.1.208. Neurology. 1996. PMID: 8559377

9

Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.

Goldfarb LG, Vasconcelos O, Platonov FA, Lunkes A, Kipnis V, Kononova S, Chabrashvili T, Vladimirtsev VA, Alexeev VP, Gajdusek DC. Goldfarb LG, et al. Among authors: vasconcelos o. Ann Neurol. 1996 Apr;39(4):500-6. doi: 10.1002/ana.410390412. Ann Neurol. 1996. PMID: 8619528

10

Expression of IFN-gamma-inducible chemokines in inclusion body myositis.

Raju R, Vasconcelos O, Granger R, Dalakas MC. Raju R, et al. Among authors: vasconcelos o. J Neuroimmunol. 2003 Aug;141(1-2):125-31. doi: 10.1016/s0165-5728(03)00218-2. J Neuroimmunol. 2003. PMID: 12965263

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