Head
Anna Barczak, MD, PhD; +48 22 60 86 48,
Staff
Dorota Czajkowska, MSc, +48 22 60 86 475, This email address is being protected from spambots. You need JavaScript enabled to view it.
Research profile
Neuromuscular disorders (spinal muscular atrophy, congenital myopthies)
• Floppy infant syndrome
• Rare and ultra-rare diseases
Grants
Floppy infant syndrome - searching for new genetic factors in the ethiopatgenesis of the disease, with a particular consideration of neuromuscular disorders. NCN 2015/17/B/NZ5/01368, Maria Jędrzejowska, 2016-2020
Collaboration
domestic
Institute of Mother and Child, Warsaw
Warsaw Medical Univeristy, Warsaw
The Children’s Memorial Health Institute, Warsaw
Institute of Psychiatry and Neurology, Warsaw
foreign
Catholic University of Sacred Heart, Policlinico Gemelli, Roma, Italy
Selected publication
- Jędrzejowska M, Kostera-Pruszczyk A. Spinal muscular atrophy - new therapies, new challenges. Neurol Neurochir Pol. 2020;54(1):8-13. DOI:10.5603/PJNNS.a2019.0068.
- Jezela-Stanek A, Ciara E, Jurkiewicz D, Kucharczyk M, Jędrzejowska M, Chrzanowska KH, Krajewska-Walasek M, Żemojtel T. The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. Mol Genet Genomic Med. 2020 Sep;8(9):e1263. DOI:10.1002/mgg3.1263.
- Stępień A, Jędrzejowska M, Guzek K, Rekowski W, Stępowska J. Reliability of four tests to assess body posture and the range of selected movements in individuals with spinal muscular atrophy. BMC Musculoskelet Disord. 2019;20(1):54. DOI:10.1186/s12891-018-2389-8.
- Jędrzejowska M, Dębek E, Kowalczyk B, Halat P, Kostera-Pruszczyk A, Ciara E, Jezela-Stanek A, Rydzanicz M, Gasperowicz P, Gos M. The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene. Muscle Nerve. 2019;59(1):129-133. DOI:10.1002/mus.26346. Epub 2018 Oct 26. PMID: 30230566
- Punetha J, Kesari A, Hoffman EP, Gos M, Kamińska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, Jędrzejowska M. Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. Muscle Nerve. 2017;55(2):277-281. DOI:10.1002/mus.25232.
- Jędrzejowska M, Madej-Pilarczyk A, Fidziańska A, Mierzewska H, Pronicka E, Obersztyn E, Gos M, Pronicki M, Kmieć T, Migdał M, Mierzewska-Schmidt M, Walczak-Wojtkowska I, Konopka E, Hausmanowa-Petrusewicz I. Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells. Eur J Paediatr Neurol. 2014; 18: 183-92. DOI: 10.1016/j.ejpn.2013.11.006.
- Jędrzejowska M, Jakubowska-Pietkiewicz E, Kostera-Pruszczyk A. X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene. Neuromuscul Disord. 2015; 25: 661-666. DOI: 1016/j.nmd.2015.05.001..
- Gaweł M, Kostera-Pruszczyk A, Lusakowska A, Jędrzejowska M, Ryniewicz B, Lipowska M, Gawel D, Kaminska A. Motor unit loss estimation by the multipoint incremental MUNE method in children with spinal muscular atrophy - a preliminary study. Neuromuscul Disord. 2015; 25:216-21. DOI: 1016/j.nmd.2014.11.012.
- Jędrzejowska M, Gos M, Zimowski JG, Kostera-Pruszczyk A, Ryniewicz B, Hausmanowa-Petrusewicz I. Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients. Neuromuscul Disord. 2014; 24: 617-23. DOI: 1016/j.nmd.2014.04.003.
- Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jędrzejowska M, Kostera-Pruszczyk A et al. Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol. 2014; 261: 152-63. DOI: 1007/s00415-013-7154-1.
- Kuźma-Kozakiewicz M, Jędrzejowska M, Kaźmierczak B. SMN1 gene duplications are more frequent in patients with progressive muscular atrophy. Amyotroph Lateral Scler Frontotemporal Degener. 2013; 14:457-62. DOI: 3109/21678421.2013.771367.
