Lipe HP - Search Results

1

Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity.

Chen DH, Lipe HP, Qin Z, Bird TD. Chen DH, et al. Among authors: lipe hp. J Neurol Sci. 2002 Apr 15;196(1-2):91-6. doi: 10.1016/s0022-510x(02)00031-x. J Neurol Sci. 2002. PMID: 11959162

2

Cambodian founder effect for spinocerebellar ataxia type 3 (Machado-Joseph disease).

Jayadev S, Michelson S, Lipe H, Bird T. Jayadev S, et al. J Neurol Sci. 2006 Dec 1;250(1-2):110-3. doi: 10.1016/j.jns.2006.08.006. Epub 2006 Oct 5. J Neurol Sci. 2006. PMID: 17027034

3

Late onset Huntington Disease: clinical and genetic characteristics of 34 cases.

Lipe H, Bird T. Lipe H, et al. J Neurol Sci. 2009 Jan 15;276(1-2):159-62. doi: 10.1016/j.jns.2008.09.029. Epub 2008 Oct 31. J Neurol Sci. 2009. PMID: 18977004 Free PMC article.

4

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.

Chen DH, Raskind WH, Parson WW, Sonnen JA, Vu T, Zheng Y, Matsushita M, Wolff J, Lipe H, Bird TD. Chen DH, et al. J Neurol Sci. 2010 Sep 15;296(1-2):22-9. doi: 10.1016/j.jns.2010.06.017. Epub 2010 Jul 14. J Neurol Sci. 2010. PMID: 20633900 Free PMC article.

5

A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter.

Brkanac Z, Bylenok L, Fernandez M, Matsushita M, Lipe H, Wolff J, Nochlin D, Raskind WH, Bird TD. Brkanac Z, et al. Arch Neurol. 2002 Aug;59(8):1291-5. doi: 10.1001/archneur.59.8.1291. Arch Neurol. 2002. PMID: 12164726

6

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.

Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH. Chen DH, et al. Am J Hum Genet. 2003 Apr;72(4):839-49. doi: 10.1086/373883. Epub 2003 Mar 17. Am J Hum Genet. 2003. PMID: 12644968 Free PMC article.

7

Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.

Chen DH, Matsushita M, Rainier S, Meaney B, Tisch L, Feleke A, Wolff J, Lipe H, Fink J, Bird TD, Raskind WH. Chen DH, et al. Arch Neurol. 2005 Apr;62(4):597-600. doi: 10.1001/archneur.62.4.597. Arch Neurol. 2005. PMID: 15824259

8

Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21.

Raskind WH, Matsushita M, Peter B, Biberston J, Wolff J, Lipe H, Burbank R, Bird TD. Raskind WH, et al. Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5;150B(4):570-4. doi: 10.1002/ajmg.b.30879. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18980218 Free PMC article.

9

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH. Chen YZ, et al. Arch Neurol. 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54. Arch Neurol. 2012. PMID: 22782511 Free PMC article.

10

Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders.

Smith CO, Lipe HP, Bird TD. Smith CO, et al. Among authors: lipe hp. Arch Neurol. 2004 Jun;61(6):875-80. doi: 10.1001/archneur.61.6.875. Arch Neurol. 2004. PMID: 15210524

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