Janusz Zimowski

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Catherine L. Bladen, David Salgado, Soledad Monges et al. · Human Mutation · 2015 · 717 citations · Full text

Dmd Mutations, Trial Planning, Engineering +12

Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy

Anna Łusakowska, Maria Jędrzejowska, Anna Kamińska et al. · Orphanet Journal of Rare Diseases · 2021 · 71 citations · Full text

Unaffected patients with a homozygous absence of the SMN1 gene

Maria Jędrzejowska, Janina Borkowska, Janusz Zimowski et al. · European Journal of Human Genetics · 2008 · 60 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +7

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease.

Maria Jędrzejowska, Michał Milewski, Janusz Zimowski et al. · Acta Biochimica Polonica · 2009 · 50 citations · Full text

Mendelian Disorder, Naip Gene, Genetic Disorder +13

Specificity of sterol-glucosylating enzymes from Sinapis alba and Physarum polycephalum

Zdzisław A. Wojciechowski, Jan Zimowski, Janusz Zimowski et al. · Biochimica et Biophysica Acta (BBA) - Enzymology · 1979 · 39 citations

Biosynthesis, Bioorganic Chemistry, Cellular Enzymology +10