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Results: 2

1.

Familial cortical myoclonus with a mutation in NOL3.

Russell JF, Steckley JL, Coppola G, Hahn AF, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, Baraban SC, Lifton RP, Geschwind DH, Fu YH, Ptáček LJ.

Ann Neurol. 2012 Aug;72(2):175-83. doi: 10.1002/ana.23666.

PMID:
22926851
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

LeDoux MS, Xiao J, Rudzińska M, Bastian RW, Wszolek ZK, Van Gerpen JA, Puschmann A, Momčilović D, Vemula SR, Zhao Y.

Parkinsonism Relat Disord. 2012 Jun;18(5):414-25. doi: 10.1016/j.parkreldis.2012.02.001. Epub 2012 Feb 28. Review.

PMID:
22377579
[PubMed - indexed for MEDLINE]
Free PMC Article

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