PubRank

Ana Gorostidi

Author PubWeight™ 12.60‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia. Neurobiol Aging 2013 1.12
2 Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings. Biol Psychiatry 2007 1.01
3 The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway. Cell Mol Life Sci 2012 0.99
4 Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Hum Mutat 2012 0.99
5 Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. Mov Disord 2009 0.98
6 Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2. Mov Disord 2009 0.95
7 Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations. Mov Disord 2011 0.92
8 Genetic variability related to serum uric acid concentration and risk of Parkinson's disease. Mov Disord 2013 0.88
9 Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain). Mov Disord 2010 0.87
10 Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2. Mov Disord 2013 0.81
11 The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. J Mol Med (Berl) 2013 0.79
12 The MAPK1/3 pathway is essential for the deregulation of autophagy observed in G2019S LRRK2 mutant fibroblasts. Autophagy 2012 0.79
13 Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. Hum Genet 2011 0.77
14 A novel PRNP Y218N mutation in Gerstmann-Sträussler-Scheinker disease with neurofibrillary degeneration. J Neuropathol Exp Neurol 2010 0.77
15 Genetic variation in α-synuclein kinases (CK-2β and GRK-5) and risk of Parkinson's disease. Parkinsonism Relat Disord 2011 0.75