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Results: 1 to 20 of 97

1.

Human genome editing as a tool to establish causality.

Urnov FD.

Proc Natl Acad Sci U S A. 2014 Jan 28;111(4):1233-4. doi: 10.1073/pnas.1322645111. Epub 2014 Jan 15. No abstract available.

PMID:
24429346
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome.

Ochiai H, Miyamoto T, Kanai A, Hosoba K, Sakuma T, Kudo Y, Asami K, Ogawa A, Watanabe A, Kajii T, Yamamoto T, Matsuura S.

Proc Natl Acad Sci U S A. 2014 Jan 28;111(4):1461-6. doi: 10.1073/pnas.1317008111. Epub 2013 Dec 16.

PMID:
24344301
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders.

Bech S, Nørremølle A, Winge K, Hasholt L, Tommerup N, Svenstrup K, Nielsen JE, Hjermind LE.

Parkinsonism Relat Disord. 2011 Jun;17(5):398-9. doi: 10.1016/j.parkreldis.2011.01.016. Epub 2011 Feb 25. No abstract available.

PMID:
21353620
[PubMed - indexed for MEDLINE]
4.

Molecular biology. Neutralizing toxic RNA.

Cooper TA.

Science. 2009 Jul 17;325(5938):272-3. doi: 10.1126/science.1177452. No abstract available.

PMID:
19608901
[PubMed - indexed for MEDLINE]
5.

p53, transcriptional, and drug sensitivity: fresh perspectives on an old activity.

Murphy ME.

Cell Cycle. 2010 Nov 15;9(22):4432. No abstract available.

PMID:
21188768
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Two novel LKB1 mutations in Colombian Peutz-Jeghers syndrome patients.

Vélez A, Gaitan MH, Marquez JR, Castaño A, Restrepo JI, Jaramillo S, Gamarra A, Novelli M, Echeverry MM, Tomlinson I, Carvajal-Carmona LG.

Clin Genet. 2009 Mar;75(3):304-6. doi: 10.1111/j.1399-0004.2008.01144.x. No abstract available.

PMID:
19250387
[PubMed - indexed for MEDLINE]
7.

The G2019S LRRK2 mutation: another morbid burden for Ashkenazi Jews may provide new insights on sporadic Parkinson's disease.

Melamed E.

Mov Disord. 2013 Dec;28(14):1912-4. doi: 10.1002/mds.25728. Epub 2013 Dec 4. No abstract available.

PMID:
24307480
[PubMed - indexed for MEDLINE]
8.

Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease.

Taylor JP, Hulihan MM, Kachergus JM, Melrose HL, Lincoln SJ, Hinkle KM, Stone JT, Ross OA, Hauser R, Aasly J, Gasser T, Payami H, Wszolek ZK, Farrer MJ.

Neurogenetics. 2007 Apr;8(2):95-102. Epub 2007 Jan 16.

PMID:
17225181
[PubMed - indexed for MEDLINE]
9.

Genetic testing in Parkinson's disease.

McInerney-Leo A.

Mov Disord. 2005 Jul;20(7):908-9. No abstract available.

PMID:
15884041
[PubMed - indexed for MEDLINE]
10.

Corticobasal syndrome and primary progressive aphasia as manifestations of lrrk2 gene mutations.

Ross OA, Toft M, Haugarvoll K.

Neurology. 2008 Jul 22;71(4):303; author reply 303-4. doi: 10.1212/01.wnl.0000320511.30222.dd. No abstract available.

PMID:
18645174
[PubMed - indexed for MEDLINE]
11.

Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation.

Kay DM, Kramer P, Higgins D, Zabetian CP, Payami H.

Mov Disord. 2005 Aug;20(8):1077-8. No abstract available.

PMID:
16001413
[PubMed - indexed for MEDLINE]
12.

Human hypertension caused by mutations in WNK kinases.

Hollenberg NK.

Curr Hypertens Rep. 2002 Aug;4(4):267. No abstract available.

PMID:
12166403
[PubMed - indexed for MEDLINE]
13.

Limk1 is predominantly expressed in neural tissues and phosphorylates serine, threonine and tyrosine residues in vitro.

Pröschel C, Blouin MJ, Gutowski NJ, Ludwig R, Noble M.

Oncogene. 1995 Oct 5;11(7):1271-81.

PMID:
7478547
[PubMed - indexed for MEDLINE]
14.

With-no-lysine kinases: the discovery of a new pathway in hypertension using human genetic studies.

Delaloy C, Hadchouel J, Jeunemaitre X.

Hypertension. 2005 Aug;46(2):263-4. Epub 2005 Jul 5. No abstract available.

PMID:
15998705
[PubMed - indexed for MEDLINE]
Free Article
15.

Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families.

Pacheco-Cuellar G, González-Huerta LM, Valdés-Miranda JM, Peláez-González H, Zenteno-Bacheron S, Cazarin-Barrientos J, Cuevas-Covarrubias SA.

J Neurol. 2011 Oct;258(10):1890-2. doi: 10.1007/s00415-011-6025-x. Epub 2011 Apr 6. No abstract available.

PMID:
21625937
[PubMed - indexed for MEDLINE]
16.

A mutation in the serum and glucocorticoid-inducible kinase-like kinase (Sgkl) gene is associated with defective hair growth in mice.

Masujin K, Okada T, Tsuji T, Ishii Y, Takano K, Matsuda J, Ogura A, Kunieda T.

DNA Res. 2004 Dec 31;11(6):371-9.

PMID:
15871460
[PubMed - indexed for MEDLINE]
Free Article
17.

[Mutation characteristic of STK].

Li Y, Lu X, Xia J, Tang X, Xia K, He Y, Zhang G.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001 Feb;18(1):4-7. Chinese.

PMID:
11172631
[PubMed - indexed for MEDLINE]
18.

LKB1 mutations are extremely rare in Korean non-small cell lung cancers.

Kim MJ, Jin G, Jheon HS, Lee SY, Cha SI, Kim CH, Jung TH, Park JY.

Cancer Genet Cytogenet. 2010 Jan 15;196(2):204-6. doi: 10.1016/j.cancergencyto.2009.09.020. No abstract available.

PMID:
20082862
[PubMed - indexed for MEDLINE]
19.

Unilateral pallidotomy in a patient with parkinsonism and G2019S LRRK2 mutation.

Munhoz RP, Teive HA, Francisco AN, Raskin S, Rogaeva E.

Mov Disord. 2009 Apr 15;24(5):791-2; author reply 792. doi: 10.1002/mds.21818. No abstract available.

PMID:
19012346
[PubMed - indexed for MEDLINE]
20.

Letter to the editors: comment on "hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families".

Shekarabi M, Dion PA, Rouleau GA.

J Neurol. 2012 Mar;259(3):565-6. doi: 10.1007/s00415-011-6206-7. Epub 2011 Aug 17. No abstract available.

PMID:
21847616
[PubMed - indexed for MEDLINE]

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