M Joosse

Author PubWeight™ 31.90^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.	Nature	1998	15.24
2	High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands.	Am J Hum Genet	1999	1.87
3	A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.	Nat Genet	2001	1.83
4	A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.	Nat Genet	1999	1.76
5	FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.	Ann Neurol	1999	1.75
6	Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.	Am J Hum Genet	2001	1.54
7	A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.	Genomics	1999	1.40
8	Phenotypic variation in hereditary frontotemporal dementia with tau mutations.	Ann Neurol	1999	1.39
9	Deletion of exon 18 is a frequent mutation in glycogen storage disease type II.	Biochem Biophys Res Commun	1994	1.17
10	The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.	Hum Mol Genet	1994	1.14
11	Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients.	Hum Mol Genet	2000	0.88
12	A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.	J Inherit Metab Dis	1997	0.82
13	A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease.	Neurogenetics	2002	0.81
14	The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases.	Neurosci Lett	1999	0.76