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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

Descriptors

  • NZ5_3: Patogeneza chorób człowieka
  • NZ5_5: Diagnostyka chorób człowieka
  • NZ2_1: Genetyka molekularna

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

Voivodeship: mazowieckie

Other projects carried out by the institution »

Principal investigator (from the host institution)

dr Maria Janina 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
2016-04-12
Project end date
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. Termocykler. Cost: 33 000 PLN
  2. Zestaw komputerowy. Cost: 7 000 PLN
  3. Zestaw komputerowy wraz z macierzą dyskową do przechowywania danych. Cost: 15 000 PLN

Information in the final report

Publication in academic press/journals (6)

  1. 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 (year: 2017, volume: w druku, pages: -), Publisher: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.pjnns.2017.09.006 – link to the publication

  2. 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 (year: 2021, volume: 12, pages: 1-6 (620752)), Publisher: Frontiers
    Status:
    Published
    DOI:
    10.3389/fgene.2021.620752 – link to the publication

  3. 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 (year: 2019, volume: 59, pages: 129-133), Publisher: Wiley
    Status:
    Published
    DOI:
    10.1002/mus.26346. – link to the publication

  4. 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 (year: 2021, volume: 32, pages: 115-121), Publisher: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.ejpn.2021.04.005 – link to the publication

  5. 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 (year: 2021, volume: 10, pages: 914), Publisher: MDPI
    Status:
    Published
    DOI:
    10.3390/jcm10050914 – link to the publication

  6. 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 (year: 2017, volume: 55, pages: 277-281), Publisher: Wiley
    Status:
    Published
    DOI:
    10.1002/mus.25232 – link to the publication

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