PubRank

E Almqvist

Author PubWeight™ 23.53‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N Engl J Med 1994 4.60
2 Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 1996 2.88
3 The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet 1997 2.84
4 Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet 1997 1.82
5 Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent. Hum Mol Genet 1993 1.55
6 Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet 1995 1.55
7 Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet 1995 1.43
8 Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease. Hum Mol Genet 1995 1.19
9 Different mechanisms underlie DNA instability in Huntington disease and colorectal cancer. Am J Hum Genet 1997 1.07
10 Cohort study of patients with adrenal lesions discovered incidentally. Br J Surg 2011 0.94
11 The "flap" endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease. Clin Genet 2001 0.87
12 Low frequency of the APP 670/671 mutation in familial Alzheimer's disease in Sweden. Neurosci Lett 1993 0.84
13 Reactions to predictive testing in Huntington disease: case reports of coping with a new genetic status. Am J Med Genet 1997 0.84
14 DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington disease. Clin Genet 1993 0.80
15 A comparison of multiplex and simplex families with Alzheimer's disease/senile dementia of Alzheimer type within a well defined population. J Neural Transm Park Dis Dement Sect 1994 0.76
16 Experimenting with Minnaert's Cigar. Appl Opt 2000 0.75