Matsushita M - Search Results

1

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Chen DH, et al. Among authors: matsushita m. Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009. Am J Hum Genet. 2016. PMID: 27259050 Free PMC article.

2

Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.

Brkanac Z, Fernandez M, Matsushita M, Lipe H, Wolff J, Bird TD, Raskind WH. Brkanac Z, et al. Among authors: matsushita m. Am J Med Genet. 2002 May 8;114(4):450-7. doi: 10.1002/ajmg.10361. Am J Med Genet. 2002. PMID: 11992570

3

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: matsushita m. 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.

4

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: matsushita m. 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.

5

IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.

Brkanac Z, Spencer D, Shendure J, Robertson PD, Matsushita M, Vu T, Bird TD, Olson MV, Raskind WH. Brkanac Z, et al. Among authors: matsushita m. Am J Hum Genet. 2009 May;84(5):692-7. doi: 10.1016/j.ajhg.2009.04.008. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409521 Free PMC article.

6

Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.

Chen DH, Naydenov A, Blankman JL, Mefford HC, Davis M, Sul Y, Barloon AS, Bonkowski E, Wolff J, Matsushita M, Smith C, Cravatt BF, Mackie K, Raskind WH, Stella N, Bird TD. Chen DH, et al. Among authors: matsushita m. Hum Mutat. 2013 Dec;34(12):1672-8. doi: 10.1002/humu.22437. Epub 2013 Oct 2. Hum Mutat. 2013. PMID: 24027063 Free PMC article.

7

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: matsushita mm. Arch Neurol. 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54. Arch Neurol. 2012. PMID: 22782511 Free PMC article.

8

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: matsushita m. Arch Neurol. 2002 Aug;59(8):1291-5. doi: 10.1001/archneur.59.8.1291. Arch Neurol. 2002. PMID: 12164726

9

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: matsushita m. Arch Neurol. 2005 Apr;62(4):597-600. doi: 10.1001/archneur.62.4.597. Arch Neurol. 2005. PMID: 15824259

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: matsushita m. 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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

2,143 results

Search Page

Filters