Concepedia

Agnieszka Madej‐Pilarczyk

AM

Statistics

Publications

15

Citations

304

H-Index

13

Active since

2008

Affiliations

Polish Academy of Sciences(Current)

Mossakowski Medical Research Institute, Polish Academy of Sciences

Medical University of Warsaw

Children's Memorial Health Institute

University of Campania "Luigi Vanvitelli"

Agnieszka Madej‐Pilarczyk is an author at Polish Academy of Sciences specializing in muscular dystrophy, genetics, and medical genetics.

Publications per year

2008–2021

15

Publications

15

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 · 35 citations · Full text

, , +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

, , +13

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 · 30 citations

, , +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

, , +13

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

, , +8

1–5 of 15