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Articles (42)
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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:

Muscle & Nerve

Année:

2014

Langue:

english

Fichier:

PDF, 79 KB

english, 2014

Modeling of manufacturing processes by learning systems: The naïve Bayesian classifier versus artificial neural networks

Marcin Perzyk, Robert Biernacki, Andrzej Kochański

Journal:

Journal of Materials Processing Technology

Année:

2005

Langue:

english

Fichier:

PDF, 289 KB

english, 2005

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:

neurogenetics

Année:

2011

Langue:

english

Fichier:

PDF, 655 KB

english, 2011

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

Année:

2006

Langue:

english

Fichier:

PDF, 359 KB

english, 2006

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

Madej-Pilarczyk, Agnieszka, Kochański, Andrzej

Journal:

Folia Neuropathologica

Année:

2016

Langue:

english

Fichier:

PDF, 201 KB

english, 2016

[IEEE 2019 10th International Conference on Dependable Systems, Services and Technologies (DESSERT) - Leeds, United Kingdom (2019.6.5-2019.6.7)] 2019 10th International Conference on Dependable Systems, Services and Technologies (DESSERT) - Development of Models in Resilient Computing

Drozd, Oleksandr, Kharchenko, Vyacheslav, Rucinski, Andrzej, Kochanski, Thaddeus, Garbos, Raymond, Maevsky, Dmitry

Année:

2019

Langue:

english

Fichier:

PDF, 850 KB

english, 2019

A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease

Andrzej Kochanski, Ann Lofgren, Hanna Jedrzejowska, Barbara Ryniewicz, Malwina Czarny-Ratajczak, Anna-Maria Barciszewska, Joanna Samocko, Irena Hausmanowa-Petrusewicz, Peter De Jonghe, Vincent Timmerm

Journal:

Human Mutation

Année:

2001

Langue:

english

Fichier:

PDF, 16 KB

english, 2001

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

Année:

2007

Langue:

english

Fichier:

PDF, 189 KB

english, 2007

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

Gulam Mustafa Saifi, Kinga Szigeti, Wojciech Wiszniewski, Michael E. Shy, Karen Krajewski, Irena Hausmanowa-Petrusewicz, Andrzej Kochanski, Suzanne Reeser, Pedro Mancias, Ian Butler, James R. Lupski

Journal:

Human Mutation

Année:

2005

Langue:

english

Fichier:

PDF, 511 KB

english, 2005

Prediction of ductile cast iron quality by artificial neural networks

Marcin Perzyk, Andrzej W Kochański

Journal:

Journal of Materials Processing Technology

Année:

2001

Langue:

english

Fichier:

PDF, 157 KB

english, 2001

How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?

Andrzej Kochański

Journal:

Journal of Applied Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 77 KB

english, 2006

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

Année:

2011

Langue:

english

Fichier:

PDF, 344 KB

english, 2011

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

Année:

2004

Langue:

english

Fichier:

PDF, 27 KB

english, 2004

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

Année:

2004

Langue:

english

Fichier:

PDF, 164 KB

english, 2004

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

Année:

2008

Langue:

english

Fichier:

PDF, 114 KB

english, 2008

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

Année:

2006

Langue:

english

Fichier:

PDF, 874 KB

english, 2006

Electric properties of the water molecule in1A1,1B1, and3B1electronic states: Refined CASSCF and CASPT2 calculations

Stephane Klein, Elise Kochanski, Alain Strich, Andrzej J. Sadlej

Journal:

Theoretical Chemistry Accounts: Theory, Computation, and Modeling (Theoretica Chimica Acta)

Année:

1996

Langue:

english

Fichier:

PDF, 1.13 MB

english, 1996

Comparison of data mining tools for significance analysis of process parameters in applications to process fault diagnosis

Perzyk, Marcin, Kochanski, Andrzej, Kozlowski, Jacek, Soroczynski, Artur, Biernacki, Robert

Journal:

Information Sciences

Année:

2014

Langue:

english

Fichier:

PDF, 759 KB

english, 2014

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

Année:

2009

Langue:

english

Fichier:

PDF, 54 KB

english, 2009

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

Année:

2011

Langue:

english

Fichier:

PDF, 71 KB

english, 2011

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

Journal:

Cardiology Clinics

Année:

2008

Langue:

english

Fichier:

PDF, 46 KB

english, 2008

CASSCF/CASPT2 Studies of the Lowest States of H 5 O 2+

Klein, Stéphane, Kochanski, Elise, Strich, Alain, Sadlej, Andrzej J.

Journal:

Journal of Physical Chemistry A

Année:

1997

Langue:

english

Fichier:

PDF, 249 KB

english, 1997

[IEEE 2007 IEEE International Conference on Microelectronic Systems Education - San Diego, CA, USA (2007.06.3-2007.06.4)] 2007 IEEE International Conference on Microelectronic Systems Education (MSE'07) - Globally-Collaborative "Homeland" Security System Design

Spaanenburg, Henk, Rucinski, Andrzej, Chamberlin, Kent, Kochanski, Thaddeus, Long, Lennart

Année:

2007

Langue:

english

Fichier:

PDF, 160 KB

english, 2007

[IEEE 2008 1st International Conference on Information Technology (IT 2008) - Gdansk (2008.05.18-2008.05.21)] 2008 1st International Conference on Information Technology - I-GEMS and Global Security

Kochanski, Thaddeus, Rucinski, Andrzej

Année:

2008

Langue:

english

Fichier:

PDF, 651 KB

english, 2008

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

Kucharczyk, Marzena, Kochański, Andrzej, Jezela-Stanek, Aleksandra, Kugaudo, Monika, Sielska-Rotblum, Danuta, Gutkowska, Anna, Krajewska-Walasek, Małgorzata

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 2.08 MB

english, 2014

[IEEE 2010 International Waterside Security Conference (WSS) - Carrara, Italy (2010.11.3-2010.11.5)] 2010 International WaterSide Security Conference - Vital Electronics, the key to the developing dynamic GIS for the Baltic or other maritime environments

Kochanski, Ted, Rucinski, Andrzej, Stepnowski, Andrzej, Waraksa, Marcin, Zurek, Jerzy

Année:

2010

Langue:

english

Fichier:

PDF, 468 KB

english, 2010

Knowledge Discovery and Analysis in Manufacturing

Polczynski, Mark, Kochanski, Andrzej

Journal:

Quality Engineering

Année:

2010

Langue:

english

Fichier:

PDF, 677 KB

english, 2010

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

Cottenie, Ellen, Kochanski, Andrzej, Jordanova, Albena, Bansagi, Boglarka, Zimon, Magdalena, Horga, Alejandro, Jaunmuktane, Zane, Saveri, Paola, Rasic, Vedrana Milic, Baets, Jonathan, Bartsakoulia, Ma

Journal:

The American Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 2.94 MB

english, 2014

Clinical Applications for Next-Generation Sequencing || Next Generation Sequencing—Ethical and Social Issues

Kochański, Andrzej

Année:

2016

Langue:

english

Fichier:

PDF, 132 KB

english, 2016

Effects of Nordic Walking and Pilates exercise programs on blood glucose and lipid profile in overweight and obese postmenopausal women in an experimental, nonrandomized, open-label, prospective controlled trial

Hagner-Derengowska, Magdalena, Kałużny, Krystian, Kochański, Bartosz, Hagner, Wojciech, Borkowska, Alina, Czamara, Andrzej, Budzyński, Jacek

Journal:

Menopause

Année:

2015

Langue:

english

Fichier:

PDF, 319 KB

english, 2015

Professor Irena Hausmanowa-Petrusewicz (1917–2015) – distinguished neurologist, teacher and scientist

Zalewska, Ewa, Kochański, Andrzej

Journal:

Neurophysiologie Clinique/Clinical Neurophysiology

Année:

2016

Langue:

english

Fichier:

PDF, 249 KB

english, 2016

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

Année:

2017

Langue:

english

Fichier:

PDF, 694 KB

english, 2017

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy – a case report and review of the genotype–phenotype correlation

Koppolu, Agnieszka A., Madej-Pilarczyk, Agnieszka, Rydzanicz, Małgorzata, Kosińska, Joanna, Gasperowicz, Piotr, Dorszewska, Jolanta, Kozubski, Wojciech, Steinborn, Barbara, Kochański, Andrzej M., Płos

Journal:

Folia Neuropathologica

Année:

2017

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2017

Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy

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

Journal:

Folia Neuropathologica

Année:

2016

Langue:

english

Fichier:

PDF, 234 KB

english, 2016

Opinions of Polish psychiatrists on psychiatry and their own professional role

Kochański, Artur, Cechnicki, Andrzej

Journal:

Postępy Psychiatrii i Neurologii

Année:

2018

Fichier:

PDF, 480 KB

2018

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

Année:

2015

Langue:

english

Fichier:

PDF, 129 KB

english, 2015

Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity

Beręsewicz, Małgorzata, Charzewski, Łukasz, Krzyśko, Krystiana A., Kochański, Andrzej, Zabłocka, Barbara

Journal:

Scientific Reports

Année:

2018

Langue:

english

Fichier:

PDF, 1.40 MB

english, 2018

[Studies in Systems, Decision and Control] Soft Modeling in Industrial Manufacturing Volume 183 || Data and Modeling in Industrial Manufacturing

Grzegorzewski, Przemyslaw, Kochanski, Andrzej, Kacprzyk, Janusz

Année:

2019

Langue:

english

Fichier:

PDF, 216 KB

english, 2019

[Studies in Systems, Decision and Control] Soft Modeling in Industrial Manufacturing Volume 183 || Tool Condition Monitoring in Metal Cutting

Grzegorzewski, Przemyslaw, Kochanski, Andrzej, Kacprzyk, Janusz

Année:

2019

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2019

[Studies in Systems, Decision and Control] Soft Modeling in Industrial Manufacturing Volume 183 || Diagnosis of Out-of-Control Signals in Complex Manufacturing Processes

Grzegorzewski, Przemyslaw, Kochanski, Andrzej, Kacprzyk, Janusz

Année:

2019

Langue:

english

Fichier:

PDF, 966 KB

english, 2019

[IEEE 2018 IEEE 4th International Symposium on Wireless Systems within the International Conferences on Intelligent Data Acquisition and Advanced Computing Systems (IDAACS-SWS) - Lviv (2018.9.20-2018.9.21)] 2018 IEEE 4th International Symposium on Wireless Systems within the International Conferences on Intelligent Data Acquisition and Advanced Computing Systems (IDAACS-SWS) - Flexible Fractal Network as a Foundation for Enhanced Wellness

Kochanski, Thaddeus, Centala, Tomasz, Drozd, Alexander, Garbos, Raymond, Jeffords, Jason, Kharchenko, Vyacheslav, Rucinski, Andrzej, Zanghi, Robert, Zurek, Jerzy

Année:

2018

Fichier:

PDF, 8 KB

2018

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

Journal:

Folia Neuropathologica

Année:

2012

Langue:

english

Fichier:

PDF, 257 KB

english, 2012