000			01746na a2200229 4500
003			H12O
005			20180113070943.0
008			130622s2012 xxx||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_aBenito León, Julián _9892 _eNeurología
245	0	0	_aH1-MAPT and the Risk for Familial Essential Tremor. _h[artículo]
260			_bPLoS One, _c2012
300			_a7(7):e41581.
500			_aFormato Vancouver: García-Martín E, Martínez C, Alonso-Navarro H, Benito-León J, Lorenzo-Betancor O, Pastor P, et al. H1-MAPT and the risk for familial essential tremor. PLoS One. 2012;7(7):e41581.
501			_aPMID: 22911817
504			_aContiene 16 referencias
520			_aThe most frequent MAPT H1 haplotype is associated with the risk for developing progressive supranuclear palsy and other neurodegenerative diseases such as Parkinson's disease. A recent report suggests that the MAPT H1 is associated with the risk for developing essential tremor. We wanted to confirm this association in a different population. We analyzed the distribution of allelic and genotype frequencies of rs1052553, which is an H1/H2 SNP, in 200 subjects with familial ET and 291 healthy controls. rs1052553 genotype and allelic frequencies did not differ significantly between subjects with ET and controls and were unrelated with the age at onset of tremor or gender, and with the presence of head, voice, chin, and tongue tremor. Our study suggests that the MAPT H1 rs1052553 is not associated with the risk for developing familial ET in the Spanish population.
710			_9267 _aServicio de Neurología-Neurofisiología
856			_uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402423/ _yAcceso libre
942			_n0 _2ddc _cART
999			_c2417 _d2417