Transthyretin-related Familial Amyloid Polyneuropathy (TTR-FAP) caused by a very rare, de novo mutation in a Polish patient
Lipowska, Marta, Rowczenio, Dorota, Gilbertson, Janet, Hawkins, Philip N, Ptasinska-Perkowska, Agnieszka, Drac, Hanna
Published in Orphanet journal of rare diseases (02.11.2015)
Published in Orphanet journal of rare diseases (02.11.2015)
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Journal Article
Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation
Lipowska, Marta, Drac, Hanna, Rowczenio, Dorota, Gilbertson, Janet, Hawkins, Philip N, Lasek-Bal, Anetta, Szewczuk, Janusz, Grzybowski, Jacek, Gawor, Monika, Stępień-Wojno, Małgorzata, Franaszczyk, Maria, Brydak-Godowska, Joanna, Śmierciak, Renata, Ptasińska-Perkowska, Agnieszka, Chandoga, Jan, Petrovic, Robert, Kostera-Pruszczyk, Anna
Published in Neurologia i neurochirurgia polska (01.01.2020)
Published in Neurologia i neurochirurgia polska (01.01.2020)
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Journal Article
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease
Kabzińska, Dagmara, Niemann, Axel, Drac, Hanna, Huber, Nina, Potulska-Chromik, Anna, Hausmanowa-Petrusewicz, Irena, Suter, Ueli, Kochański, Andrzej
Published in Neurogenetics (01.05.2011)
Published in Neurogenetics (01.05.2011)
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Journal Article
Dysmyelinating and demyelinating Charcot–Marie–Tooth disease associated with two myelin protein zero gene mutations
Drac, Hanna, Kabzińska, Dagmara, Moszyńska, Izabela, Strugalska-Cynowska, Halina, Hausmanowa-Petrusewicz, Irena, Kochański, Andrzej
Published in Journal of applied genetics (01.05.2011)
Published in Journal of applied genetics (01.05.2011)
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Journal Article
A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)
Jędrzejowska, Maria, Ryniewicz, Barbara, Kabzińska, Dagmara, Drac, Hanna, Hausmanowa-Petrusewicz, Irena, Kochański, Andrzej
Published in Neuromuscular disorders : NMD (01.04.2008)
Published in Neuromuscular disorders : NMD (01.04.2008)
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Journal Article
Original article Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome
Potulska-Chromik, Anna, Sinkiewicz-Darol, Elena, Kostera-Pruszczyk, Anna, Drac, Hanna, Kabzińska, Dagmara, Zakrzewska-Pniewska, Beata, Gołębiowski, Marek, Kochański, Andrzej
Published in Folia neuropathologica (2012)
Published in Folia neuropathologica (2012)
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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)
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Journal Article
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family
Drac, Hanna, Madej-Pilarczyk, Agnieszka, Gospodarczyk-Szot, Krystyna, Gaweł, Małgorzata, Kwieciński, Hubert, Hausmanowa-Petrusewicz, Irena
Published in Neurologia i neurochirurgia polska (2010)
Published in Neurologia i neurochirurgia polska (2010)
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Journal Article
Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome
Potulska-Chromik, Anna, Sinkiewicz-Darol, Elena, Kostera-Pruszczyk, Anna, Drac, Hanna, Kabzińska, Dagmara, Zakrzewska-Pniewska, Beata, Gołębiowski, Marek, Kochański, Andrzej
Published in Folia neuropathologica (2012)
Published in Folia neuropathologica (2012)
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Journal Article
Late-onset charcot-marie-tooth type 2 disease with hearing impairment associated with a novel Prol05Thr mutation in the MPZ gene
KABZINSKA, Dagmara, KORWIN-PIOTROWSKA, Teresa, DRECHSLER, Hanna, DRAC, Hanna, HAUSMANOWA -PETRUSEWICZ, Irena, KOCHANSKI, Andrzej
Published in American journal of medical genetics. Part A (2007)
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Published in American journal of medical genetics. Part A (2007)
Journal Article
A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot–Marie–Tooth type 4 disease
Kabzińska, Dagmara, Kochański, Andrzej, Drac, Hanna, Rowińska-Marcińska, Katarzyna, Ryniewicz, Barbara, Pedrola, Laia, Palau, Francesc, Hausmanowa-Petrusewicz, Irena
Published in Journal of the neurological sciences (15.02.2006)
Published in Journal of the neurological sciences (15.02.2006)
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Journal Article
Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models
Kabzińska, Dagmara, Perez-Olle, Raul, Goryunov, Dmitry, Drac, Hanna, Ryniewicz, Barbara, Hausmanowa-Petrusewicz, Irena, Kochański, Andrzej, Liem, Ronald K.H
Published in Journal of the peripheral nervous system (01.09.2006)
Published in Journal of the peripheral nervous system (01.09.2006)
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Journal Article
RESEARCH REPORT: Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models
Kabzinska, Dagmara, Perez-Olle, Raul, Goryunov, Dmitry, Drac, Hanna, Ryniewicz, Barbara, Hausmanowa-Petrusewicz, Irena, Kochanski, Andrzej, Liem, Ronald KH
Published in Journal of the peripheral nervous system (01.09.2006)
Published in Journal of the peripheral nervous system (01.09.2006)
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Journal Article
An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene
Kochanski, Andrzej, Kabzinska, Dagmara, Nowakowski, Adam, Drac, Hanna, Hausmanowa-Petrusewicz, Irena
Published in Journal of the peripheral nervous system (01.03.2004)
Published in Journal of the peripheral nervous system (01.03.2004)
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Journal Article
Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene
Kochański, Andrzej, Kabzińska, Dagmara, Drac, Hanna, Ryniewicz, Barbara, Rowińska-Marcińska, Katarzyna, Hausmanowa-Petrusewicz, Irena
Published in European journal of paediatric neurology (01.01.2004)
Published in European journal of paediatric neurology (01.01.2004)
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Journal Article
Paraneoplastic syndrome in the course of lung adenocarcinoma: morphological picture and immunohistochemical analysis of the inflammatory infiltrates and PECAM-1 expression
Dziewulska, D, Drac, H, Michej, W, Mieszkowski, J, Rafałowska, J
Published in Folia neuropathologica (2000)
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Published in Folia neuropathologica (2000)
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