Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

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Molecular etiopathogenesis study in hereditary sensory neuropaties

2012/07/B/NZ4/01748

Keywords:

sensory neuropathy molecular biology etiopathogenesis

Descriptors:

  • NZ4_7: Neurophysiology
  • NZ4_12: Other related subjects

Panel:

NZ4 - Biology of tissues, organs and organisms: morphology and functions of animal's and human's systems, organs and organisms, experimental medicine, basics of neurology

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 Dagmara Kabzińska 

Number of co-investigators in the project: 6

Call: OPUS 4 - announced on 2012-09-15

Amount awarded: 796 120 PLN

Project start date (Y-m-d): 2013-06-24

Project end date (Y-m-d): 2017-01-23

Project duration:: 43 months (the same as in the proposal)

Project status: Project settled

Equipment purchased [PL]

  1. komputer x2 (15 000 PLN)
  2. inkubator z wytrząsaniem (20 000 PLN)
  3. system do magazynowania próbek Micronic (35 000 PLN)
  4. program do tworzenia bibliotek literarturowych na dwa stanowiska, programy komputerowe do analizy danych, obróbka zdjęć i rysunków (2 szt.) (13 000 PLN)

Information in the final report

  • Publication in academic press/journals (6)
  1. A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.
    Authors:
    Kabzińska D, Kotruchow K, Cegielska J, Hausmanowa-Petrusewicz I, Kochański A.
    Academic press:
    Acta Biochimica Polonica (rok: 2014, tom: 61, strony: 739-744), Wydawca: Polska Akademia Nauk Komitet Biochemiczny i Polska Akademia Nauk Komitet Biochemiczny i Biofizyczny
    Status:
    Published
    DOI:
    brak - link to the publication
  2. Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies
    Authors:
    Magdalena Mroczek, Dagmara Kabzińska, Andrzej Kochański
    Academic press:
    Acta Neurobiologiae Experimentalis (rok: 2015, tom: 75, strony: 126-43), Wydawca: Instytut Biologii Doświadczalnej im. M. Nęckiego PAN
    Status:
    Published
    DOI:
    brak - link to the publication
  3. Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.
    Authors:
    Kabzińska D, Mierzewska H, Senderek J, Kochański A
    Academic press:
    Folia Neuropathologica (rok: 2016, tom: 54, strony: 273-281), Wydawca: Poznań : Termedica
    Status:
    Published
    DOI:
    10.5114/fn.2016.62537 - link to the publication
  4. A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.
    Authors:
    Mroczek M, Kabzińska D, Chrzanowska KH, Pronicki M, Kochański A.
    Academic press:
    Journal of Applied Genetics (rok: 2017, tom: 58, strony: 199-203), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s13353-016-0368-z - link to the publication
  5. Pathogenic mutations and sequence variants within mitofusin 2 gene in Polish patients with different hereditary motor-sensory neuropathies.
    Authors:
    Kotruchow K, Kabzińska D, Kochański A.
    Academic press:
    Acta Neurobiologiae Experimentalis (rok: 2015, tom: 75, strony: 264-78), Wydawca: Nencki Institute of Experimental Biology
    Status:
    Published
    DOI:
    brak - link to the publication
  6. Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy
    Authors:
    Agnieszka Madej-Pilarczyk, Katarzyna Kotruchow, Dagmara Kabzińska, Joanna Cegielska, Andrzej Kochański, Irena Hausmanowa-Petrusewicz
    Academic press:
    Folia Neuropathologica (rok: 2015, tom: 53, strony: 270-274), Wydawca: Stowarzyszenie Neuropatologów Polskich i Instytut Medycyny Doświadczalnej i Klinicznej im. M. Mossakowskiego PAN
    Status:
    Published
    DOI:
    10.5114/fn.2015.54428 - link to the publication

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