Friedmar Kreuz

Author PubWeight™ 7.00‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet 2002 1.39
2 Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis 2013 1.13
3 The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics 2005 1.06
4 Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. Hum Genet 2006 1.00
5 Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. Eur J Hum Genet 2010 0.97
6 Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2. BMC Med Genet 2009 0.84
7 Communicating BRCA1 and BRCA2 genetic test results. J Clin Oncol 2006 0.83