Transthyretin-related Familial Amyloid Polyneuropathy (TTR-FAP) caused by a very rare, de novo mutation in a Polish patient von Lipowska, Marta, Rowczenio, Dorota, Gilbertson, Janet, Hawkins, Philip N, Ptasinska-Perkowska, Agnieszka, Drac, Hanna

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Phenomenon of Schwann cell apoptosis in a case of congenital hypomyelinating neuropathy with basal lamina onion bulb formation von FIDZIANSKA, Anna, DRAC, Hanna, RAFALOWSKA, Janina

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Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation von 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

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Familial inclusion body myopathy with desmin storage von FIDZIANSKA, A, DRAC, H, KAMINSKA, A. M

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A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease von Kabzińska, Dagmara, Niemann, Axel, Drac, Hanna, Huber, Nina, Potulska-Chromik, Anna, Hausmanowa-Petrusewicz, Irena, Suter, Ueli, Kochański, Andrzej

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Dysmyelinating and demyelinating Charcot–Marie–Tooth disease associated with two myelin protein zero gene mutations von Drac, Hanna, Kabzińska, Dagmara, Moszyńska, Izabela, Strugalska-Cynowska, Halina, Hausmanowa-Petrusewicz, Irena, Kochański, Andrzej

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A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3) von Jędrzejowska, Maria, Ryniewicz, Barbara, Kabzińska, Dagmara, Drac, Hanna, Hausmanowa-Petrusewicz, Irena, Kochański, Andrzej

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Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene von Kabzińska, Dagmara, Korwin-Piotrowska, Teresa, Drechsler, Hanna, Drac, Hanna, Hausmanowa-Petrusewicz, Irena, Kochański, Andrzej

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Original article Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome von Potulska-Chromik, Anna, Sinkiewicz-Darol, Elena, Kostera-Pruszczyk, Anna, Drac, Hanna, Kabzińska, Dagmara, Zakrzewska-Pniewska, Beata, Gołębiowski, Marek, Kochański, Andrzej

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Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome von Potulska-Chromik, A, Sinkiewicz-Darol, E, Kostera-Pruszczyk, A, Drac, H, Kabzinska, D, Zakrzewska-Pniewska, B, Golebiowski, M, Kochanski, A

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Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family von Drac, Hanna, Madej-Pilarczyk, Agnieszka, Gospodarczyk-Szot, Krystyna, Gaweł, Małgorzata, Kwieciński, Hubert, Hausmanowa-Petrusewicz, Irena

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Late-onset charcot-marie-tooth type 2 disease with hearing impairment associated with a novel Prol05Thr mutation in the MPZ gene von KABZINSKA, Dagmara, KORWIN-PIOTROWSKA, Teresa, DRECHSLER, Hanna, DRAC, Hanna, HAUSMANOWA -PETRUSEWICZ, Irena, KOCHANSKI, Andrzej

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A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot–Marie–Tooth type 4 disease von Kabzińska, Dagmara, Kochański, Andrzej, Drac, Hanna, Rowińska-Marcińska, Katarzyna, Ryniewicz, Barbara, Pedrola, Laia, Palau, Francesc, Hausmanowa-Petrusewicz, Irena

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Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models von Kabzińska, Dagmara, Perez-Olle, Raul, Goryunov, Dmitry, Drac, Hanna, Ryniewicz, Barbara, Hausmanowa-Petrusewicz, Irena, Kochański, Andrzej, Liem, Ronald K.H

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An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene von Kochanski, Andrzej, Kabzinska, Dagmara, Nowakowski, Adam, Drac, Hanna, Hausmanowa-Petrusewicz, Irena

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RESEARCH REPORT: Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models von Kabzinska, Dagmara, Perez-Olle, Raul, Goryunov, Dmitry, Drac, Hanna, Ryniewicz, Barbara, Hausmanowa-Petrusewicz, Irena, Kochanski, Andrzej, Liem, Ronald KH

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Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene von Kochański, Andrzej, Kabzińska, Dagmara, Drac, Hanna, Ryniewicz, Barbara, Rowińska-Marcińska, Katarzyna, Hausmanowa-Petrusewicz, Irena

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Infantile chronic peripheral neuropathy with giant axons. Report of a case von Jedrzejowska, H, Drac, H

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An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene von Kochanski, Andrzej, Kabzinska, Dagmara, Nowakowski, Adam, Drac, Hanna, Hausmanowa-Petrusewicz, Irena

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