Agnieszka Madej‐Pilarczyk

A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome

Mohammad Al-Haggar, Agnieszka Madej‐Pilarczyk, Janusz M. Bujnicki et al. · European Journal of Human Genetics · 2012 · 34 citations · Full text

Unrelated Egyptian Families, Mendelian Disorder, Progeria Syndrome +10

Progeroid syndrome with scleroderma‐like skin changes associated with homozygous R435C <i>LMNA</i> mutation

Agnieszka Madej‐Pilarczyk, Danuta Rosińska‐Borkowska, Joanna Rękawek et al. · American Journal of Medical Genetics Part A · 2009 · 31 citations

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells

Maria Jędrzejowska, Agnieszka Madej‐Pilarczyk, Anna Fidziańska et al. · European Journal of Paediatric Neurology · 2013 · 29 citations

Genome Instability, Genetic Disorder, Medicine +10

The effect of the lamin A and its mutants on nuclear structure, cell proliferation, protein stability, and mobility in embryonic cells

Katarzyna Piekarowicz, Magdalena Machowska, Ewelina Dratkiewicz et al. · Chromosoma · 2016 · 28 citations · Full text

Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy

I Niebrój-Dobosz, Agnieszka Madej‐Pilarczyk, Michał Marchel et al. · Clinica Chimica Acta · 2011 · 23 citations

Cardiac Muscle, Cardiomyopathy, Heart Failure +7