Lipe H - Search Results

1

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. Among authors: lipe h. 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.

2

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. Among authors: lipe h. Arch Neurol. 2002 Aug;59(8):1291-5. doi: 10.1001/archneur.59.8.1291. Arch Neurol. 2002. PMID: 12164726

3

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. Among authors: lipe h. Arch Neurol. 2005 Apr;62(4):597-600. doi: 10.1001/archneur.62.4.597. Arch Neurol. 2005. PMID: 15824259

4

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. Among authors: lipe h. Arch Neurol. 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54. Arch Neurol. 2012. PMID: 22782511 Free PMC article.

5

Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2.

Raskind WH, Pericak-Vance MA, Lennon F, Wolff J, Lipe HP, Bird TD. Raskind WH, et al. Among authors: lipe hp. Am J Med Genet. 1997 Feb 21;74(1):26-36. doi: 10.1002/(sici)1096-8628(19970221)74:1<26::aid-ajmg7>3.0.co;2-t. Am J Med Genet. 1997. PMID: 9034002

6

Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34.

Raskind WH, Bolin T, Wolff J, Fink J, Matsushita M, Litt M, Lipe H, Bird TD. Raskind WH, et al. Among authors: lipe h. Hum Genet. 1998 Jan;102(1):93-7. doi: 10.1007/s004390050659. Hum Genet. 1998. PMID: 9490305 Free article.

7

Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.

Fernandez M, Raskind W, Wolff J, Matsushita M, Yuen E, Graf W, Lipe H, Bird T. Fernandez M, et al. Among authors: lipe h. Ann Neurol. 2001 Apr;49(4):486-92. Ann Neurol. 2001. PMID: 11310626

8

Hereditary benign chorea: clinical and genetic features of a distinct disease.

Fernandez M, Raskind W, Matsushita M, Wolff J, Lipe H, Bird T. Fernandez M, et al. Among authors: lipe h. Neurology. 2001 Jul 10;57(1):106-10. doi: 10.1212/wnl.57.1.106. Neurology. 2001. PMID: 11445636

9

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. Among authors: lipe h. 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.

10

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. Among authors: lipe h. 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.

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