Maria Jędrzejowska

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Tamara Dangouloff, Eva Vrščaj, Laurent Servais et al. · Neuromuscular Disorders · 2021 · 164 citations

Early Diagnosis, Rare Diseases, Newborn Screening +7

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Catherine L. Bladen, Rachel Thompson, J. Jackson et al. · Journal of Neurology · 2013 · 102 citations

Spine Care, Primary Care, Health Policy +9

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