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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1956 1
1966 1
1969 2
1970 2
1972 2
1973 1
1975 1
1976 1
1977 1
1983 1
1985 1
1987 2
1989 1
1990 1
1992 1
1993 1
1994 2
1996 2
1998 1
1999 1
2000 3
2001 1
2002 1
2003 5
2004 2
2005 2
2006 1
2007 2
2008 5
2009 5
2010 8
2011 6
2012 4
2014 2
2016 2
2024 0

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Publication date

PubMed (OMIM) for id: 59341

71 results

Results by year

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Page 1
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.
Landouré G, Sullivan JM, Johnson JO, Munns CH, Shi Y, Diallo O, Gibbs JR, Gaudet R, Ludlow CL, Fischbeck KH, Traynor BJ, Burnett BG, Sumner CJ. Landouré G, et al. Neurology. 2012 Jul 10;79(2):192-4. doi: 10.1212/WNL.0b013e31825f04b2. Epub 2012 Jun 6. Neurology. 2012. PMID: 22675077 Free PMC article. No abstract available.
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.
Lanciotti A, Brignone MS, Molinari P, Visentin S, De Nuccio C, Macchia G, Aiello C, Bertini E, Aloisi F, Petrucci TC, Ambrosini E. Lanciotti A, et al. Hum Mol Genet. 2012 May 15;21(10):2166-80. doi: 10.1093/hmg/dds032. Epub 2012 Feb 9. Hum Mol Genet. 2012. PMID: 22328087
Muscle MRI in TRPV4-related congenital distal SMA.
Astrea G, Brisca G, Fiorillo C, Valle M, Tosetti M, Bruno C, Santorelli FM, Battini R. Astrea G, et al. Neurology. 2012 Jan 31;78(5):364-5. doi: 10.1212/WNL.0b013e318245295a. Neurology. 2012. PMID: 22291064 No abstract available.
71 results