María-Jesús Sobrido

Author PubWeight™ 22.28^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.	Nat Genet	2012	3.34
2	Planning the human variome project: the Spain report.	Hum Mutat	2009	2.22
3	Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.	Neurogenetics	2013	2.11
4	A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.	Neuromuscul Disord	2011	1.55
5	Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.	Nat Genet	2012	1.52
6	How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.	Hum Mutat	2010	1.31
7	A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.	Hum Mol Genet	2009	1.18
8	Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.	Genet Med	2009	1.10
9	GENETICS. The Human Variome Project.	Science	2008	1.07
10	SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population.	Am J Med Genet B Neuropsychiatr Genet	2011	0.98
11	Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.	Neuromuscul Disord	2006	0.93
12	Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.	Hum Mutat	2012	0.88
13	No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population.	Am J Med Genet B Neuropsychiatr Genet	2014	0.88
14	Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease.	J Biol Chem	2013	0.85
15	Two-stage case-control association study of dopamine-related genes and migraine.	BMC Med Genet	2009	0.83
16	Human Variome Project country nodes: documenting genetic information within a country.	Hum Mutat	2012	0.83
17	Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.	Cerebellum	2015	0.81
18	A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample.	Cephalalgia	2012	0.76
19	Axonal neuropathy, long limbs and bumpy tongue: think of MEN2B.	Muscle Nerve	2012	0.75