Maria Jędrzejowska
Children's Memorial Health Institute(PL)Mother and Child Foundation(GB)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, Congenital Anomalies and Fetal Surgery, RNA Research and Splicing, Muscle Physiology and Disorders
Most-Cited Works
- → Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go(2021)167 cited
- → Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe(2013)105 cited
- → Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy(2021)71 cited
- → Incidence of Spinal Muscular Atrophy in Poland – More Frequent than Predicted?(2010)71 cited
- → Unaffected patients with a homozygous absence of the SMN1 gene(2008)62 cited
- → 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.(2009)52 cited