Boustany RM - Search Results

1

Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.

Hentati A, Deng HX, Zhai H, Chen W, Yang Y, Hung WY, Azim AC, Bohlega S, Tandan R, Warner C, Laing NG, Cambi F, Mitsumoto H, Roos RP, Boustany RM, Ben Hamida M, Hentati F, Siddique T. Hentati A, et al. Among authors: boustany rm. Neurology. 2000 Nov 14;55(9):1388-90. doi: 10.1212/wnl.55.9.1388. Neurology. 2000. PMID: 11087788

2

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

Hentati A, Pericak-Vance MA, Hung WY, Belal S, Laing N, Boustany RM, Hentati F, Ben Hamida M, Siddique T. Hentati A, et al. Among authors: boustany rm. Hum Mol Genet. 1994 Aug;3(8):1263-7. doi: 10.1093/hmg/3.8.1263. Hum Mol Genet. 1994. PMID: 7987300

3

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers.

Hentati A, Pericak-Vance MA, Lennon F, Wasserman B, Hentati F, Juneja T, Angrist MH, Hung WY, Boustany RM, Bohlega S, et al. Hentati A, et al. Among authors: boustany rm. Hum Mol Genet. 1994 Oct;3(10):1867-71. doi: 10.1093/hmg/3.10.1867. Hum Mol Genet. 1994. PMID: 7849714

4

Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia.

Scott WK, Gaskell PC, Lennon F, Wolpert CM, Menold MM, Aylsworth AS, Warner C, Farrell CD, Boustany RM, Albright SG, Boyd E, Kingston HM, Cumming WJ, Vance JM, Pericak-Vance MA. Scott WK, et al. Among authors: boustany rm. Neurogenetics. 1997 Sep;1(2):95-102. doi: 10.1007/s100480050014. Neurogenetics. 1997. PMID: 10732810

5

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Svenson IK, Ashley-Koch AE, Gaskell PC, Riney TJ, Cumming WJ, Kingston HM, Hogan EL, Boustany RM, Vance JM, Nance MA, Pericak-Vance MA, Marchuk DA. Svenson IK, et al. Among authors: boustany rm. Am J Hum Genet. 2001 May;68(5):1077-85. doi: 10.1086/320111. Epub 2001 Apr 16. Am J Hum Genet. 2001. PMID: 11309678 Free PMC article.

6

The autosomal dominant form of "pure" familial spastic paraplegia: clinical findings and linkage analysis of a large pedigree.

Boustany RM, Fleischnick E, Alper CA, Marazita ML, Spence MA, Martin JB, Kolodny EH. Boustany RM, et al. Neurology. 1987 Jun;37(6):910-5. doi: 10.1212/wnl.37.6.910. Neurology. 1987. PMID: 3587641

7

Apoptosis in development and disease of the nervous system: II. Apoptosis in childhood neurologic disease.

Gelbard HA, Boustany RM, Schor NF. Gelbard HA, et al. Among authors: boustany rm. Pediatr Neurol. 1997 Feb;16(2):93-7. doi: 10.1016/s0887-8994(96)00258-5. Pediatr Neurol. 1997. PMID: 9090681 Free article. Review.

8

A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).

Tsujino S, Tonin P, Shanske S, Nohria V, Boustany RM, Lewis D, Chen YT, DiMauro S. Tsujino S, et al. Among authors: boustany rm. Ann Neurol. 1994 Mar;35(3):349-53. doi: 10.1002/ana.410350316. Ann Neurol. 1994. PMID: 8122886

9

Common causes of uncommon seizures.

El-Bitar MK, Boustany RM. El-Bitar MK, et al. Among authors: boustany rm. Pediatr Neurol. 2009 Aug;41(2):83-7. doi: 10.1016/j.pediatrneurol.2009.04.011. Pediatr Neurol. 2009. PMID: 19589454 Review.

10

Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.

Boustany RM, Qian WH, Suzuki K. Boustany RM, et al. Am J Hum Genet. 1993 Oct;53(4):881-8. Am J Hum Genet. 1993. PMID: 8213816 Free PMC article.

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