Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

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Floppy infant syndrome - searching for new genetic factors in the ethiopatgenesis of the disease, with a particular consideration of neuromuscular disorders

2015/17/B/NZ5/01368

Keywords:

floppy infant neuromuscular disorders spinal muscular atrophy molecular pathogenesis next generation sequencing (NGS)

Descriptors:

  • NZ5_3: Pathogenesis of human diseases
  • NZ5_5: Diagnostics in human diseases
  • NZ2_1: Molecular genetics

Panel:

NZ5 - Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)

Host institution :

Instytut Medycyny Doświadczalnej i Klinicznej im. Mirosława Mossakowskiego PAN

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr Maria Jędrzejowska 

Number of co-investigators in the project: 6

Call: OPUS 9 - announced on 2015-03-16

Amount awarded: 1 208 800 PLN

Project start date (Y-m-d): 2016-04-12

Project end date (Y-m-d): 2020-03-11

Project duration:: 47 months (the same as in the proposal)

Project status: Project settled

Project description

Download the project description in a pdf file

Note - project descriptions were prepared by the authors of the applications themselves and placed in the system in an unchanged form.

Equipment purchased [PL]

  1. Zestaw komputerowy (7 000 PLN)
  2. Termocykler (33 000 PLN)
  3. Zestaw komputerowy wraz z macierzą dyskową do przechowywania danych (15 000 PLN)

Information in the final report

  • Publication in academic press/journals (6)
  1. Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients
    Authors:
    Anna Potulska-Chromik, Maria Jędrzejowska, Monika Gos, Edyta Rosiak, Biruta Kierdaszuk, Aleksandra Maruszak, Andrzej Opuchlik, Cezary Zekanowski, Jakub P. Fichna
    Academic press:
    Journal of Clinical Medicine (rok: 2021, tom: 10, strony: 914), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/jcm10050914 - link to the publication
  2. The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
    Authors:
    Jędrzejowska M, Dębek E, Kowalczyk B, Halat P, Kostera-Pruszczyk A, Ciara E, Jezela-Stanek A, Rydzanicz M, Gasperowicz P, Gos M.
    Academic press:
    Muscle and Nerve (rok: 2019, tom: 59, strony: 129-133), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/mus.26346. - link to the publication
  3. Floppy infant syndrome as a firts manifastation of LMNA-related congenital muscular dystrophy.
    Authors:
    Maria Jędrzejowska, Anna Potulska-Chromik, Monika Gos, Tomasz Gambin, Emilia Dębek, Edyta Rosiak, Agnieszka Stępień, Robert Szymańczak, Bartosz Wojtaś, Bartłomiej Gielniewski, Elżbieta Ciara, Agnieszka Sobczyńska, Krystyna Chrzanowska, Anna Kostera-Pruszczyk, Agnieszka Madej-Pilarczyk
    Academic press:
    European Journal of Paediatric Neurology (rok: 2021, tom: 32, strony: 115-121), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.ejpn.2021.04.005 - link to the publication
  4. A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defect.
    Authors:
    Punetha J, Kesari A, Hoffman EP, Gos M, Kamińska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, Jędrzejowska M
    Academic press:
    Muscle and Nerve (rok: 2017, tom: 55, strony: 277-281), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/mus.25232 - link to the publication
  5. Low-symptomatic skeletal muscle disease in patients with a cardiac disease - Diagnostic approach in skeletal muscle laminopathies
    Authors:
    Madej-Pilarczyk A, Marchel M, Ochman K, Cegielska J, Steckiewicz R
    Academic press:
    Neurologia i Neurochirurgia Polska (rok: 2017, tom: w druku, strony: -), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.pjnns.2017.09.006 - link to the publication
  6. Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene
    Authors:
    Magdalena Klaniewska, Maria Jedrzejowska, Malgorzata Rydzanicz, Justyna Paprocka, Mateusz Biela, Ewelina Wolanska, Agnieszka Pollak, Emilia Debek, Maria Sasiadek, Rafal Ploski, Monika Gos, Robert Smigiel
    Academic press:
    Frontiers in Genetics (rok: 2021, tom: 12, strony: 1-6 (620752)), Wydawca: Frontiers
    Status:
    Published
    DOI:
    10.3389/fgene.2021.620752 - link to the publication

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