Works by Kochanski, Andrzej

Results: 38
    1
    2
    3
    4
    5
    6
    7
    8
    9
    10
    11
    12
    13
    14

    L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype.

    Published in:
    Neurogenetics, 2010, v. 11, n. 3, p. 357, doi. 10.1007/s10048-010-0237-6
    By:
    • Kabzińska, Dagmara;
    • Strugalska-Cynowska, Halina;
    • Kostera-Pruszczyk, Anna;
    • Ryniewicz, Barbara;
    • Posmyk, Renata;
    • Midro, Alina;
    • Seeman, Pavel;
    • Báranková, Lucia;
    • Zimoń, Magdalena;
    • Baets, Jonathan;
    • Timmerman, Vincent;
    • Guergueltcheva, Velina;
    • Tournev, Ivailo;
    • Sarafov, Stayko;
    • Jonghe, Peter;
    • Jordanova, Albena;
    • Hausmanowa-Petrusewicz, Irena;
    • Kochański, Andrzej
    Publication type:
    Article
    15
    16
    17
    18

    A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.

    Published in:
    Human Mutation, 2001, v. 17, n. 2, p. 157, doi. 10.1002/1098-1004(200102)17:2<157::AID-HUMU22>3.0.CO;2-E
    By:
    • Kochanski, Andrzej;
    • Lofgren, Ann;
    • Jedrzejowska, Hanna;
    • Ryniewicz, Barbara;
    • Czarny-Ratajczak, Malwina;
    • Barciszewska, Anna-Maria;
    • Samocko, Joanna;
    • Hausmanowa-Petrusewicz, Irena;
    • Jonghe, Peter De;
    • Timmerman, Vincent;
    • Latos-Bielenska, Anna
    Publication type:
    Article
    19
    20
    21
    22

    Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

    Published in:
    Brain: A Journal of Neurology, 2008, v. 131, n. 5, p. 1217
    By:
    • Ines Dierick;
    • Jonathan Baets;
    • Joy Irobi;
    • An Jacobs;
    • Els De Vriendt;
    • Tine Deconinck;
    • Luciano Merlini;
    • Peter Van den Bergh;
    • Vedrana Milic Rasic;
    • Wim Robberecht;
    • Dirk Fischer;
    • Raul Juntas Morales;
    • Zoran Mitrovic;
    • Pavel Seeman;
    • Radim Mazanec;
    • Andrzej Kochanski;
    • Albena Jordanova;
    • Michaela Auer-Grumbach;
    • A. T. J. M. Helderman-van den Enden;
    • John H. J. Wokke
    Publication type:
    Article
    23
    24
    25
    26
    27
    28

    A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

    Published in:
    Folia Neuropathologica, 2017, v. 55, n. 3, p. 214, doi. 10.5114/fn.2017.70486
    By:
    • Koppolu, Agnieszka A.;
    • Madej-Pilarczyk, Agnieszka;
    • Rydzanicz, Małgorzata;
    • Kosińska, Joanna;
    • Gasperowicz, Piotr;
    • Dorszewska, Jolanta;
    • Kozubski, Wojciech;
    • Steinborn, Barbara;
    • Kochański, Andrzej M.;
    • Płoski, Rafał
    Publication type:
    Article
    29
    30
    31
    32
    33
    34

    Charcot–Marie–Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 1, p. 150, doi. 10.1093/hmg/ddr450
    By:
    • Noack, Rebecca;
    • Frede, Svenja;
    • Albrecht, Philipp;
    • Henke, Nadine;
    • Pfeiffer, Annika;
    • Knoll, Katrin;
    • Dehmel, Thomas;
    • Meyer zu Hörste, Gerd;
    • Stettner, Mark;
    • Kieseier, Bernd C.;
    • Summer, Holger;
    • Golz, Stefan;
    • Kochanski, Andrzej;
    • Wiedau-Pazos, Martina;
    • Arnold, Susanne;
    • Lewerenz, Jan;
    • Methner, Axel
    Publication type:
    Article
    35
    36
    37
    38