Motoneuron afterhyperpolarisation duration in amyotrophic lateral sclerosis
Piotrkiewicz, Maria, Hausmanowa‐Petrusewicz, Irena
Published in The Journal of physiology (01.06.2011)
Published in The Journal of physiology (01.06.2011)
Get full text
Journal Article
Analysis of double discharges in amyotrophic lateral sclerosis
Piotrkiewicz, Maria, Kudina, Lydia, Mierzejewska, Jolanta, Hausmanowa-Petrusewicz, Irena
Published in Muscle & nerve (01.07.2008)
Published in Muscle & nerve (01.07.2008)
Get full text
Journal Article
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects
Punetha, Jaya, Kesari, Akanchha, Hoffman, Eric P., Gos, Monika, Kamińska, Anna, Kostera‐Pruszczyk, Anna, Hausmanowa‐Petrusewicz, Irena, Hu, Ying, Zou, Yaqun, Bönnemann, Carsten G., JȨdrzejowska, Maria
Published in Muscle & nerve (01.02.2017)
Published in Muscle & nerve (01.02.2017)
Get full text
Journal Article
The inner nuclear membrane protein Emerin regulates β-catenin activity by restricting its accumulation in the nucleus
Markiewicz, Ewa, Tilgner, Katarzyna, Barker, Nick, van de Wetering, Mark, Clevers, Hans, Dorobek, Margareth, Hausmanowa-Petrusewicz, Irena, Ramaekers, Frans CS, Broers, Jos LV, Blankesteijn, W Matthijs, Salpingidou, Georgia, Wilson, Robert G, Ellis, Juliet A, Hutchison, Christopher J
Published in The EMBO journal (26.07.2006)
Published in The EMBO journal (26.07.2006)
Get full text
Journal Article
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
Monaco, Anthony P, Bolino, Alessandra, Muglia, Maria, Conforti, Francesca Luisa, LeGuern, Eric, Salih, Mustafa A.M, Georgiou, Domna-Maria, Christodoulou, Kyproula, Hausmanowa-Petrusewicz, Irena, Mandich, Paola, Schenone, Angelo, Gambardella, Antonio, Bono, Franco, Quattrone, Aldo, Devoto, Marcella
Published in Nature genetics (01.05.2000)
Published in Nature genetics (01.05.2000)
Get full text
Journal Article
Incidence of Spinal Muscular Atrophy in Poland – More Frequent than Predicted?
Jedrzejowska, Maria, Milewski, Michal, Zimowski, Janusz, Zagozdzon, Pawel, Kostera-Pruszczyk, Anna, Borkowska, Janina, Sielska, Danuta, Jurek, Marta, Hausmanowa-Petrusewicz, Irena
Published in Neuroepidemiology (01.01.2010)
Published in Neuroepidemiology (01.01.2010)
Get full text
Journal Article
SIMPLE mutations in Charcot‐Marie‐Tooth disease and the potential role of its protein product in protein degradation
Saifi, Gulam Mustafa, Szigeti, Kinga, Wiszniewski, Wojciech, Shy, Michael E., Krajewski, Karen, Hausmanowa‐Petrusewicz, Irena, Kochanski, Andrzej, Reeser, Suzanne, Mancias, Pedro, Butler, Ian, Lupski, James R.
Published in Human mutation (01.04.2005)
Published in Human mutation (01.04.2005)
Get full text
Journal Article
A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype
Goldberg, L R, Hausmanowa-Petrusewicz, I, Fidzianska, A, Duggan, D J, Steinberg, L S, Hoffman, E P
Published in Annals of neurology (01.12.1998)
Published in Annals of neurology (01.12.1998)
Get more information
Journal Article
Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation
Madej-Pilarczyk, Agnieszka, Rosińska-Borkowska, Danuta, Rękawek, Joanna, Marchel, Michał, Szaluś, Ewa, Jabłońska, Stefania, Hausmanowa-Petrusewicz, Irena
Published in American journal of medical genetics. Part A (01.11.2009)
Published in American journal of medical genetics. Part A (01.11.2009)
Get full text
Journal Article
Shape irregularity of motor unit potentials in some neuromuscular disorders
Zalewska, Ewa, Rowińska-Marcińska, Katarzyna, MD, PhD, Irena Hausmanowa-Petrusewicz
Published in Muscle & nerve (01.09.1998)
Published in Muscle & nerve (01.09.1998)
Get full text
Journal Article
Cardiac involvement in laminopathies – short invited review
Nigro, Gerardo, Carboni, Nicola, Marchel, Michal, Palladino, Alberto, Madej-Pilarczyk, Agnieszka, Opolski, Grzegorz, Hausmanowa-Petrusewicz, Irena, Politano, Luisa
Published in Family medicine & primary care review (01.10.2015)
Published in Family medicine & primary care review (01.10.2015)
Get full text
Journal Article
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13–15 September 2002, Naarden, The Netherlands
Bonne, Gisèle, Yaou, Rabah Ben, Béroud, Christophe, Boriani, Giuseppe, Brown, Sue, de Visser, Marianne, Duboc, Denis, Ellis, Juliet, Hausmanowa-Petrusewicz, Irena, Lattanzi, Giovanna, Merlini, Luciano, Morris, Glenn, Muntoni, Francesco, Opolski, Grzegorz, Pinto, Yigal M, Sangiuolo, Federica, Toniolo, Daniela, Trembath, Richard, van Berlo, Jop H, van der Kooi, Anneke J, Wehnert, Manfred
Published in Neuromuscular disorders : NMD (01.08.2003)
Published in Neuromuscular disorders : NMD (01.08.2003)
Get full text
Journal Article
Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene
Kabzińska, Dagmara, Korwin-Piotrowska, Teresa, Drechsler, Hanna, Drac, Hanna, Hausmanowa-Petrusewicz, Irena, Kochański, Andrzej
Published in American journal of medical genetics. Part A (15.09.2007)
Published in American journal of medical genetics. Part A (15.09.2007)
Get full text
Journal Article
A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients
Zerres, Klaus, Rudnik-Schöneborn, Sabine, Forrest, Eric, Lusakowska, Anna, Borkowska, Janina, Hausmanowa-Petrusewicz, Irena
Published in Journal of the neurological sciences (27.02.1997)
Published in Journal of the neurological sciences (27.02.1997)
Get full text
Journal Article
Meiotic stability and genotype - phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
La Spada, Albert R, Roling, Daniel B, Harding, Anita E, Warner, Carolyn L, Spiegel, Roland, Hausmanowa-Petrusewicz, Irena, Yee, Woon-Chee, Fischbeck, Kenneth H
Published in Nature genetics (01.12.1992)
Published in Nature genetics (01.12.1992)
Get full text
Journal Article