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1

Oblique-viewing endoscope calibration in the diagnostics and treatment in the pelvis minor area

Holak, Krzysztof, Kohut, Piotr, Stangel-Wojcikiewicz, Klaudia, Kabzińska-Turek, Monika, Florczak, Joanna, Petko, Maciej

Journal:

Bio-Algorithms and Med-Systems

Year:

2016

Language:

english

File:

PDF, 50 KB

english, 2016

2

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy

Potulska-Chromik, Anna, Sinkiewicz-Darol, Elena, Ryniewicz, Barbara, Lipowska, Marta, Kabzińska, Dagmara, Kochański, Andrzej, Kostera-Pruszczyk, Anna

Journal:

Year:

2014

Language:

english

File:

PDF, 79 KB

english, 2014

3

A new missenseGDAP1mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease

Dagmara Kabzińska, Axel Niemann, Hanna Drac, Nina Huber, Anna Potulska-Chromik, Irena Hausmanowa-Petrusewicz, Ueli Suter, Andrzej Kochański

Journal:

Year:

2011

Language:

english

File:

PDF, 655 KB

english, 2011

4

Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models

Dagmara Kabzińska, Raul Perez-Olle, Dmitry Goryunov, Hanna Drac, Barbara Ryniewicz, Irena Hausmanowa-Petrusewicz, Andrzej Kochański, Ronald K.H Liem

Journal:

Journal of the Peripheral Nervous System

Year:

2006

Language:

english

File:

PDF, 359 KB

english, 2006

5

Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene

Dagmara Kabzińska, Teresa Korwin-Piotrowska, Hanna Drechsler, Hanna Drac, Irena Hausmanowa-Petrusewicz, Andrzej Kochański

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 189 KB

english, 2007

6

The structure of lanthanide complexes with five membered sulfones and the specific benzene solvation

J.T. Wróbel, K. Kabzińska, J. Ruszkowska, P.K. Wrona

Journal:

Journal of Molecular Structure

Year:

1977

Language:

english

File:

PDF, 729 KB

english, 1977

7

Screening of the 17p11.2–p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP)

D. Kabzińska, J. Pierścińska, A. Kochański

Journal:

Journal of Applied Genetics

Year:

2009

Language:

english

File:

PDF, 242 KB

english, 2009

8

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in thePMP22gene, coexisting with a slowly progressive hearing impairment

D. Kabzińska, E. Sinkiewicz-Darol, I. Hausmanowa-Petrusewicz, A. Kochański

Journal:

Journal of Applied Genetics

Year:

2010

Language:

english

File:

PDF, 832 KB

english, 2010

9

L239F founder mutation inGDAP1is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype

Dagmara Kabzińska, Halina Strugalska-Cynowska, Anna Kostera-Pruszczyk, Barbara Ryniewicz, Renata Posmyk, Alina Midro, Pavel Seeman, Lucia Báranková, Magdalena Zimoń, Jonathan Baets, Vincent Timmerman,

Journal:

Year:

2010

Language:

english

File:

PDF, 417 KB

english, 2010

10

Dysmyelinating and demyelinating Charcot–Marie–Tooth disease associated with two myelin protein zero gene mutations

Hanna Drac, Dagmara Kabzińska, Izabela Moszyńska, Halina Strugalska-Cynowska, Irena Hausmanowa-Petrusewicz, Andrzej Kochański

Journal:

Journal of Applied Genetics

Year:

2011

Language:

english

File:

PDF, 344 KB

english, 2011

11

An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene

Andrzej Kochanski, Dagmara Kabzinska, Adam Nowakowski, Hanna Drac, Irena Hausmanowa-Petrusewicz

Journal:

Journal of the Peripheral Nervous System

Year:

2004

Language:

english

File:

PDF, 27 KB

english, 2004

12

Sexual Aspects of Women with Turner's Syndrome

Zbigniew Lew-Starowicz, Wacław Jeż, Tomasz Irzyniec, Monika Kabzińska, Ewa Boćkowska

Journal:

Sexuality and Disability

Year:

2003

Language:

english

File:

PDF, 86 KB

english, 2003

13

Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene

Andrzej Kochański, Dagmara Kabzińska, Hanna Drac, Barbara Ryniewicz, Katarzyna Rowińska-Marcińska, Irena Hausmanowa-Petrusewicz

Journal:

European Journal of Paediatric Neurology

Year:

2004

Language:

english

File:

PDF, 164 KB

english, 2004

14

A severe case of facioscapulohumeral muscular dystrophy (FSHD) with some uncommon clinical features and a short 4q35 fragment

Małgorzata Dorobek, Dagmara Kabzińska

Journal:

European Journal of Paediatric Neurology

Year:

2004

Language:

english

File:

PDF, 176 KB

english, 2004

15

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin

A. Kochanski, H. Drac, D. Kabzińska, I. Hausmanowa-Petrusewicz

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 250 KB

english, 2004

16

N.P.3 04 A novel Pro105Thr mutation in the MPZ gene causes late onset CMT2 disease with hearing impairment

A. Kochański, D. Kabzińska, T. Korwin-Piotrowska, H. Drechsler, H. Drac, I. Hausmanowa-Petrusewicz

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 44 KB

english, 2006

17

G.P.11.10 Charcot-Marie-Tooth (CMT) disease caused by 17p11.2-p12 duplication in a large cohort of Polish patients

A. Kochanski, D. Kabzinska, J. Pierscinska, I. Hausmanowa-Petrusewicz

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 46 KB

english, 2007

18

A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)

Maria Jędrzejowska, Barbara Ryniewicz, Dagmara Kabzińska, Hanna Drac, Irena Hausmanowa-Petrusewicz, Andrzej Kochański

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 114 KB

english, 2008

19

A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot–Marie–Tooth type 4 disease

Dagmara Kabzińska, Andrzej Kochański, Hanna Drac, Katarzyna Rowińska-Marcińska, Barbara Ryniewicz, Laia Pedrola, Francesc Palau, Irena Hausmanowa-Petrusewicz

Journal:

Journal of the Neurological Sciences

Year:

2006

Language:

english

File:

PDF, 874 KB

english, 2006

20

Mitochondrial DNA in Polish Centenarians

Lorenc, Anna, Tonska, Katarzyna, Kabzinska, Dagmara, Bartnik, Ewa

Journal:

Toxicology Mechanisms and Methods

Year:

2004

Language:

english

File:

PDF, 106 KB

english, 2004

21

Analysis of the 5’ upstream regulatory sequence of the PMP22 gene in a group of Charcot-Marie-Tooth type 1A(CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) affected patients

Elena, Sinkiewicz-Darol, Dagmara, Kabzińska, Andrzej, Kochański

Journal:

Pharmacological Reports

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

22

The isoleucine92valine variant in the LITAF/SIMPLE – gene modifier of clinical variability of Charcot-Marie-Tooth disease or a harmless polymorphism?

Sinkiewicz-Darol, Elena, Potulska-Chromik, Anna, Kostera-Pruszczyk, Anna, Kabzińska, Dagmara, Kochański, Andrzej

Journal:

Pharmacological Reports

Year:

2011

Language:

english

File:

PDF, 71 KB

english, 2011

23

Contents

Sinkiewicz-Darol, Elena, Potulska-Chromik, Anna, Kostera-Pruszczyk, Anna, Kabzińska, Dagmara, Kochański, Andrzej

Journal:

Cardiology Clinics

Year:

2008

Language:

english

File:

PDF, 46 KB

english, 2008

24

A 13 C nuclear magnetic resonance study of thiolane sulfoxides. The configurations of neothiobinupharidine sulfoxides

LaLonde, R. T., Wong, C. F., Tsai, A. I-M., Wróbel, J. T., Ruszkowska, J., Kabzinska, K., Martin, T. I., MacLean, D. B.

Journal:

Canadian Journal of Chemistry

Year:

1976

Language:

english

File:

PDF, 625 KB

english, 1976

25

TheLITAF/SIMPLEI92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases

Sinkiewicz-Darol, Elena, Lacerda, Andressa Ferreira, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Sokołowska, Beata, Kabzińska, Dagmara, Brunetti, Craig R., Hausmanowa-Petrusewicz, Irena, Kochańsk

Journal:

Year:

2015

Language:

english

File:

PDF, 1.26 MB

english, 2015

26

Evaluating the probative value of facial composites by laypeople and prosecutor apprentices

Kabzińska, Joanna

Journal:

Psychology Crime & Law

Year:

2015

Language:

english

File:

PDF, 745 KB

english, 2015

27

Somatic mosaicism in Charcot-Marie-Tooth type X disease

Kochanski, A., Nowakowski, A., Kawulak, M., Kabzinska, D., Hausmanowa-Petrusewicz, I.

Journal:

Year:

2004

Language:

english

File:

PDF, 805 KB

english, 2004

28

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

Kabzinska, D., Drac, H., Sherman, D. L., Kostera-Pruszczyk, A., Brophy, P. J., Kochanski, A., Hausmanowa-Petrusewicz, I.

Journal:

Year:

2006

Language:

english

File:

PDF, 411 KB

english, 2006

29

A novel MPZ gene mutation in congenital neuropathy with hypomyelination

Kochanski, A., Drac, H., Kabzinska, D., Ryniewicz, B., Rowinska-Marcinska, K., Nowakowski, A., Hausmanowa-Petrusewicz, I.

Journal:

Year:

2004

Language:

english

File:

PDF, 181 KB

english, 2004

30

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

Zimon, M., Baets, J., Fabrizi, G. M., Jaakkola, E., Kabzinska, D., Pilch, J., Schindler, A. B., Cornblath, D. R., Fischbeck, K. H., Auer-Grumbach, M., Guelly, C., Huber, N., De Vriendt, E., Timmerman,

Journal:

Year:

2011

Language:

english

File:

PDF, 753 KB

english, 2011

31

Autosomal Recessive Axonal Form of Charcot-Marie-Tooth Disease Caused by Compound Heterozygous 3′-Splice Site and Ser130Cys Mutation in the GDAP1 Gene

Kabzińska, D., Kochański,, A., Drac, H., Ryniewicz, B., Rowińska-Marcińska, K., Hausmanowa-Petrusewicz, I.

Journal:

Neuropediatrics

Year:

2005

File:

PDF, 758 KB

2005

32

Autosomal Recessive Axonal Form of Charcot-Marie-Tooth Disease Caused by Compound Heterozygous 3′-Splice Site and Ser130Cys Mutation in the GDAP1 Gene

Kabzińska, D., Kochański,, A., Drac, H., Ryniewicz, B., Rowińska-Marcińska, K., Hausmanowa-Petrusewicz, I.

Journal:

Neuropediatrics

Year:

2005

Language:

english

File:

PDF, 758 KB

english, 2005

33

The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population

Dorobek, Małgorzata, Ryniewicz, Barbara, Kabzińska, Dagmara, Fidziańska, Anna, Styczyńska, Maria, Hausmanowa-Petrusewicz, Irena

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2015

Language:

english

File:

PDF, 143 KB

english, 2015

34

ChemInform Abstract: The Synthesis and Pyrolysis of 2-Substituted 1,3-Dithiane 1,1-Dioxide.

KABZINSKA, K., KAWECKI, R.

Journal:

Year:

1990

File:

PDF, 94 KB

1990

35

Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?

Potulska-Chromik, Anna, Ryniewicz, Barbara, Aragon-Gawinska, Karolina, Kabzinska, Dagmara, Seroka, Andrzej, Lipowska, Marta, Kaminska, Anna M., Kostera-Pruszczyk, Anna

Journal:

Journal of the Peripheral Nervous System

Year:

2016

Language:

english

File:

PDF, 66 KB

english, 2016

36

050 Sense of coherence – is it a protective factor in chronic urticaria patients?

Ograczyk, A., Kabzinska, Z., Pietrzak, A., Zalewska-Janowska, A.

Journal:

The Journal of Investigative Dermatology

Year:

2016

Language:

english

File:

PDF, 56 KB

english, 2016

37

A novelTPM2gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

Mroczek, Magdalena, Kabzińska, Dagmara, Chrzanowska, Krystyna H., Pronicki, Maciej, Kochański, Andrzej

Journal:

Journal of Applied Genetics

Year:

2017

Language:

english

File:

PDF, 694 KB

english, 2017

38

Growth, Phosphatase and Ribonuclease Activity in Phosphate-deficient Spirodela oligorrhiza Cultures

Knypl, J.S., Kabzińska, Elžbieta

Journal:

Biochemie und Physiologie der Pflanzen

Year:

1977

Language:

english

File:

PDF, 927 KB

english, 1977

39

ChemInform Abstract: THIOPHENE DIOXIDE DERIVATIVES PART 1, NUCLEOPHILIC ADDITION TO ALKYLTHIOPHENE 1,1-DIOXIDE

WROBEL, J. T., KABZINSKA, K.

Journal:

Chemischer Informationsdienst

Year:

1974

File:

PDF, 196 KB

1974

40

ChemInform Abstract: THIOPHENE DIOXIDE DERIVATIVES PART 4, 1,3-DIPOLAR CYCLOADDITION

KABZINSKA, K., WROBEL, J. T.

Journal:

Chemischer Informationsdienst

Year:

1975

File:

PDF, 180 KB

1975

41

ChemInform Abstract: THIOPHENE DIOXIDE DERIVATIVES PART 2, NMR STUDIES OF CONFORMATION OF DIHYDRODERIVATIVES

WROBEL, J. T., KABZINSKA, K.

Journal:

Chemischer Informationsdienst

Year:

1974

File:

PDF, 88 KB

1974

42

ChemInform Abstract: THIOPHENE DIOXIDE DERIVATIVES PART 3, THE SOLVENT EFFECTS

KABZINSKA, K., WROBEL, J. T.

Journal:

Chemischer Informationsdienst

Year:

1974

File:

PDF, 89 KB

1974

43

ChemInform Abstract: APPLICATION OF PARAMAGNETIC SHIFTS INDUCED BY HEPTAFLUORO-1,1,1,2,2,3,3-DIMETHYL-7,7-OCTANEDIONE-EUROPIUM(III) TO CONFIGURATIONAL ASSIGNMENTS OF SULFINYL OXYGEN IN NEOTHIOBINUPHARIDINE SULFOXIDES

WROBEL, J. T., RUSZKOWSKA, J., KABZINSKA, K.

Journal:

Chemischer Informationsdienst

Year:

1978

File:

PDF, 109 KB

1978

44

Original article Mitofusin 2 expression dominates over mitofusin 1 exclusively in mouse dorsal root ganglia – a possible explanation for peripheral nervous system involvement in Charcot-Marie-Tooth 2A

Kawalec, Maria, Zabłocka, Barbara, Kabzińska, Dagmara, Neska, Jacek, Beręsewicz, Małgorzata

Journal:

Folia Neuropathologica

Year:

2014

Language:

english

File:

PDF, 107 KB

english, 2014

45

Dysgerminoma and gonadoblastoma in the course of Swyer syndrome

Milewicz, Tomasz, Mrozińska, Sandra, Szczepański, Wojciech, Białas, Magdalena, Kiałka, Marta, Doroszewska, Katarzyna, Kabzińska-Turek, Monika, Wojtyś, Andrzej, Ludwin, Artur, Chmura, Łukasz

Journal:

Polish Journal of Pathology

Year:

2016

File:

PDF, 327 KB

2016

46

Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy

Kabzińska, Dagmara, Mierzewska, Hanna, Senderek, Jan, Kochański, Andrzej

Journal:

Folia Neuropathologica

Year:

2016

Language:

english

File:

PDF, 234 KB

english, 2016

47

Dysgerminoma and gonadoblastoma in the course of Swyer syndrome

Milewicz, Tomasz, Mrozińska, Sandra, Szczepański, Wojciech, Białas, Magdalena, Kiałka, Marta, Doroszewska, Katarzyna, Kabzińska-Turek, Monika, Wojtyś, Andrzej, Ludwin, Artur, Chmura, Łukasz

Journal:

Polish Journal of Pathology

Year:

2016

Language:

english

File:

PDF, 327 KB

english, 2016

48

Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy

Madej-Pilarczyk, Agnieszka, Kotruchow, Katarzyna, Kabzinska, Dagmara, Cegielska, Joanna, Kochanski, Andrzej, Hausmanowa-Petrusewicz, Irena

Journal:

Folia Neuropathologica

Year:

2015

Language:

english

File:

PDF, 129 KB

english, 2015

49

Challenging iatrogenic menopause. Oncofertility programme in Poland – a single-centre experience

Horbaczewska, Anna, Jach, Robert, Zmaczyński, Andrzej, Kacalska-Janssen, Olga, Doroszewska, Katarzyna, Piróg, Magdalena, Kabzińska-Turek, Monika

Journal:

Menopausal Review

Year:

2019

Language:

english

File:

PDF, 335 KB

english, 2019

50

Reviews

Kabzińska, Iwona, Harasimowicz, Julia, Załęska, Zofia, Mészáros, Csaba, Csáji, László Koppány, Balogh, Mátyás

Journal:

Acta Ethnographica Hungarica

Year:

2019

File:

PDF, 1.63 MB

2019

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