Motoneuron afterhyperpolarisation duration in amyotrophic lateral sclerosis

Por Piotrkiewicz, Maria, Hausmanowa-Petrusewicz, Irena
Publicado em 2011

Amyotrophic lateral sclerosis: a dying motor unit?

Por Piotrkiewicz, Maria, Hausmanowa-Petrusewicz, Irena
Publicado em 2013

Blood clotting factors in cerebrospinal fluid

Por Niewiarowski, Stefan, Hausmanowa-Petrusewicz, Irena, Wegrzynowicz, Zenon
Publicado em 1962

A method for determination of muscle fiber diameter using single fiber potential (SFP) analysis

Por Zalewska, Ewa, Nandedkar, Sanjeev D., Hausmanowa-Petrusewicz, Irena
Publicado em 2012

A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene

Por KOTRUCHOW, KATARZYNA, KABZIŃSKA, DAGMARA, HAUSMANOWA-PETRUSEWICZ, IRENA, KOCHAŃSKI, ANDRZEJ
Publicado em 2013

Advances in basic and clinical research in laminopathies

Por Politano, Luisa, Carboni, Nicola, Madej-Pilarczyk, Agnieszka, Marchel, Michael, Nigro, Gerardo, Fidziaóska, Anna, Opolski, Grzegorz, Hausmanowa-Petrusewicz, Irena
Publicado em 2013

Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del

Por Madej-Pilarczyk, Agnieszka, Niezgoda, Adam, Janus, Magdalena, Wojnicz, Romuald, Marchel, Michał, Fidziańska, Anna, Grajek, Stefan, Hausmanowa-Petrusewicz, Irena
Publicado no J Appl Genet (2016)

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases

Por Sinkiewicz-Darol, Elena, Lacerda, Andressa Ferreira, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Sokołowska, Beata, Kabzińska, Dagmara, Brunetti, Craig R., Hausmanowa-Petrusewicz, Irena, Kochański, Andrzej
Publicado no Neurogenetics (2014)

A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

Por Punetha, Jaya, Kesari, Akanchha, Hoffman, Eric P., Gos, Monika, Kamińska, Anna, Kostera-Pruszczyk, Anna, Hausmanowa-Petrusewicz, Irena, Hu, Ying, Zou, Yaqun, Bönnemann, Carsten G., Jędrzejowska, Maria
Publicado no Muscle Nerve (2016)

The inner nuclear membrane protein Emerin regulates β-catenin activity by restricting its accumulation in the nucleus

Por Markiewicz, Ewa, Tilgner, Katarzyna, Barker, Nick, van de Wetering, Mark, Clevers, Hans, Dorobek, Margareth, Hausmanowa-Petrusewicz, Irena, Ramaekers, Frans C S, Broers, Jos L V, Blankesteijn, W Matthijs, Salpingidou, Georgia, Wilson, Robert G, Ellis, Juliet A, Hutchison, Christopher J
Publicado em 2006

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

Por Cottenie, Ellen, Kochanski, Andrzej, Jordanova, Albena, Bansagi, Boglarka, Zimon, Magdalena, Horga, Alejandro, Jaunmuktane, Zane, Saveri, Paola, Rasic, Vedrana Milic, Baets, Jonathan, Bartsakoulia, Marina, Ploski, Rafal, Teterycz, Pawel, Nikolic, Milos, Quinlivan, Ros, Laura, Matilde, Sweeney, Mary G., Taroni, Franco, Lunn, Michael P., Moroni, Isabella, Gonzalez, Michael, Hanna, Michael G., Bettencourt, Conceicao, Chabrol, Elodie, Franke, Andre, von Au, Katja, Schilhabel, Markus, Kabzińska, Dagmara, Hausmanowa-Petrusewicz, Irena, Brandner, Sebastian, Lim, Siew Choo, Song, Haiwei, Choi, Byung-Ok, Horvath, Rita, Chung, Ki-Wha, Zuchner, Stephan, Pareyson, Davide, Harms, Matthew, Reilly, Mary M., Houlden, Henry
Publicado no Am J Hum Genet (2014)