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1

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Johnson, Katherine, Bertoli, Marta, Phillips, Lauren, Töpf, Ana, Van den Bergh, Peter, Vissing, John, Witting, Nanna, Nafissi, Shahriar, Jamal-Omidi, Shirin, Łusakowska, Anna, Kostera-Pruszczyk, Anna,

Journal:

Skeletal Muscle

Year:

2018

Language:

english

File:

PDF, 810 KB

english, 2018

2

Coma in the course of severe poisoning after consumption of red fly agaric (Amanita muscaria)

Mikaszewska-Sokolewicz, Małgorzata A., Pankowska, Sylwestra, Janiak, Marek, Pruszczyk, Piotr, Łazowski, Tomasz, Jankowski, Krzysztof

Journal:

Acta Biochimica Polonica

Year:

2016

Language:

english

File:

PDF, 172 KB

english, 2016

3

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

4

Screening for late‐onset Pompe Disease in Poland

Jastrzębska, Aleksandra, Potulska‐Chromik, Anna, Łusakowska, Anna, Jastrzębski, Miłosz, Lipowska, Marta, Kierdaszuk, Biruta, Kamińska, Anna, Kostera‐Pruszczyk, Anna

Journal:

Acta Neurologica Scandinavica

Year:

2019

File:

PDF, 302 KB

2019

5

Disturbed right ventricular ejection pattern as a new Doppler echocardiographic sign of acute pulmonary embolism

Marcin Kurzyna, Adam Torbicki, Piotr Pruszczyk, Barbara Burakowska, Anna Fijałkowska, Jarosław Kober, Karina Oniszh, Paweł Kuca, Witold Tomkowski, Janusz Burakowski, Liliana Wawrzyńska

Journal:

The American Journal of Cardiology

Year:

2002

Language:

english

File:

PDF, 128 KB

english, 2002

6

Andersen-Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement

Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Pruszczyk, Piotr, Bieganowska, Katarzyna, Miszczak-Knecht, Maria, Bienias, Piotr, szczałuba, krzysztof, Lee, Hsien-Yang, Quinn, Emily, Ploski, Rafal, K

Journal:

Year:

2015

Language:

english

File:

PDF, 83 KB

english, 2015

7

MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy

Zimowski, Janusz G., Massalska, Diana, Holding, Mariola, Jadczak, Sylwia, Fidziańska, Elżbieta, Łusakowska, Anna, Kostera-Pruszczyk, Anna, Kamińska, Anna, Zaremba, Jacek

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2014

Language:

english

File:

PDF, 661 KB

english, 2014

8

Effect of Age and Gender on the Number of Motor Units in Healthy Subjects Estimated by the Multipoint Incremental MUNE Method

Gawel, Malgorzata, Kostera-Pruszczyk, Anna

Journal:

Journal of Clinical Neurophysiology

Year:

2014

Language:

english

File:

PDF, 409 KB

english, 2014

9

Multidetector computed tomography for acute pulmonary embolism: diagnosis and risk stratification in a single test

Becattini, C., Agnelli, G., Vedovati, M. C., Pruszczyk, P., Casazza, F., Grifoni, S., Salvi, A., Bianchi, M., Douma, R., Konstantinides, S., Lankeit, M., Duranti, M.

Journal:

European Heart Journal

Year:

2011

Language:

english

File:

PDF, 251 KB

english, 2011

10

Acute pulmonary embolism: mortality prediction by the 2014 European Society of Cardiology risk stratification model

Becattini, Cecilia, Agnelli, Giancarlo, Lankeit, Mareike, Masotti, Luca, Pruszczyk, Piotr, Casazza, Franco, Vanni, Simone, Nitti, Cinzia, Kamphuisen, Pieter, Vedovati, Maria Cristina, De Natale, Maria

Journal:

European Respiratory Journal

Year:

2016

Language:

english

File:

PDF, 310 KB

english, 2016

11

Amifampridine phosphate (Firdapse ® ) is effective and safe in a phase 3 clinical trial in LEMS

Oh, Shin J, Shcherbakova, Natalya, Kostera-Pruszczyk, Anna, Alsharabati, Mohammad, Dimachkie, Mazen, Blanco, Jose Munoz, Brannagan, Thomas, Lavrnić, Dragana, Shieh, Perry B, Vial, Christophe, Meisel,

Journal:

Year:

2016

Language:

english

File:

PDF, 977 KB

english, 2016

12

A novel COL12A1 variant expands the clinical picture for a collagen XII-related myopathy

Punetha, J., Kesari, A., Hoffman, E., Gos, M., Kaminska, A., Kostera-Pruszczyk, A., Hu, Y., Zou, Y., Bonnemann, C., Jedrzejowska, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

13

Isolated mitral valve P3 prolapse with severe regurgitation – transoesophageal 2D/3D echo-guidance in transapical -artificial neochordae implantation in challenging patient

Kurnicka, Katarzyna, Wrobel, Krzysztof, Zakarkaite, Diana, Biederman, Andrzej, Pruszczyk, Piotr

Journal:

Acta Cardiologica

Year:

2017

Language:

english

File:

PDF, 1.57 MB

english, 2017

14

The Importance of Pro-inflammatory Cytokines in Patients with Chronic Heart Failure and Chronic Kidney Disease and Type 2 Diabetes

Dyrla, Wioletta, Jedrzejewska, Agnieszka Cudnoch, Dyrla, Przemyslaw, Pruszczyk, Piotr, Piatkiewicz, Pawel, Kuch, Marek

Journal:

Journal of Clinical & Experimental Cardiology

Year:

2017

Language:

english

File:

PDF, 397 KB

english, 2017

15

New poly(acrylamide) based (polymer in salt) electrolytes: preparation and spectroscopic characterization

A Zalewska, I Pruszczyk, E Sułek, W Wieczorek

Journal:

Solid State Ionics

Year:

2003

Language:

english

File:

PDF, 141 KB

english, 2003

16

Motor unit hyperexcitability in amyotrophic lateral sclerosis vs amino acids acting as neurotransmitters

A. Kostera-Pruszczyk, I. Niebroj-Dobosz, B. Emeryk-Szajewska, A. Karwańska, K. Rowińska-Marcińska

Journal:

Acta Neurologica Scandinavica

Year:

2002

Language:

english

File:

PDF, 195 KB

english, 2002

17

Juvenile seropositive myasthenia gravis with anti-MuSK antibody after thymectomy

Anna Kostera-Pruszczyk, Hubert Kwiecinski

Journal:

Journal of Neurology

Year:

2009

Language:

english

File:

PDF, 115 KB

english, 2009

18

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

19

Carpal tunnel syndrome or congenital hand anomaly: a clinical and electromyographic study

Anna Kostera-Pruszczyk, Katarzyna Rowinska-Marcinska, Barbara Ryniewicz, Magdalena Olszewicz-Dukaczewska, Magdalena Gola

Journal:

Journal of the Peripheral Nervous System

Year:

2005

Language:

english

File:

PDF, 33 KB

english, 2005

20

MuSK-positive myasthenia gravis is rare in the Polish population

A. Kostera-Pruszczyk, A. Kamińska, M. Dutkiewicz, B. Emeryk-Szajewska, M. H. Strugalska-Cynowska, A. Vincent, H. Kwieciński

Journal:

European Journal of Neurology

Year:

2008

Language:

english

File:

PDF, 71 KB

english, 2008

21

A single-fibre EMG study of neuromuscular transmission in migraine patients

I Domitrz, A Kostera-Pruszczyk, H Kwieciñski

Journal:

Year:

2005

Language:

english

File:

PDF, 68 KB

english, 2005

22

Assessment of renal dysfunction improves troponin-based short-term prognosis in patients with acute symptomatic pulmonary embolism

M. KOSTRUBIEC, A. ŁABYK, J. PEDOWSKA-WŁOSZEK, S. PACHO, A. WOJCIECHOWSKI, K. JANKOWSKI, M. CIURZYŃSKI, P. PRUSZCZYK

Journal:

Journal of Thrombosis and Haemostasis

Year:

2010

Language:

english

File:

PDF, 311 KB

english, 2010

23

Heart Rate Turbulence Impairment and Ventricular Arrhythmias in Patients with Systemic Sclerosis

PIOTR BIENIAS, MICHAŁ CIURZYŃSKI, MARIA GLIŃSKA-WIELOCHOWSKA, DARIUSZ KORCZAK, AGNIESZKA KALIŃSKA-BIENIAS, WIESŁAW GLIŃSKI, PIOTR PRUSZCZYK

Journal:

Pacing and Clinical Electrophysiology

Year:

2010

Language:

english

File:

PDF, 113 KB

english, 2010

24

MISCELLANEOUS CLINICAL CATEGORIES : Date: 11-12-98, from 8:30 to 10:00, Location: Oceania 2

P. PRUSZCZYK, B. MARCHANDISE

Journal:

Echocardiography

Year:

1998

Language:

english

File:

PDF, 245 KB

english, 1998

25

Electrocardiographic Differentiation between Acute Pulmonary Embolism and Non-ST Elevation Acute Coronary Syndromes at the Bedside

Krzysztof Jankowski, Maciej Kostrubiec, Patrycja Ozdowska, Blanka Milanowska-Puncewicz, Szymon Pacho, Justyna Pedowska-Włoszek, Anna Kaczyńska, Andrzej Łabyk, Anna Hrynkiewicz, Piotr Pruszczyk

Journal:

Annals of Noninvasive Electrocardiology

Year:

2010

Language:

english

File:

PDF, 123 KB

english, 2010

26

Electrocardiographic Criteria of Left Ventricular Hypertrophy in Patients with Morbid Obesity

Justyna Domienik-Karłowicz, Barbara Lichodziejewska, Wojciech Lisik, Michał Ciurzyński, Piotr Bienias, Andrzej Chmura, Piotr Pruszczyk

Journal:

Annals of Noninvasive Electrocardiology

Year:

2011

Language:

english

File:

PDF, 168 KB

english, 2011

27

Unaffected patients with a homozygous absence of the SMN1 gene

Jędrzejowska, Maria, Borkowska, Janina, Zimowski, Janusz, Kostera-Pruszczyk, Anna, Milewski, Michał, Jurek, Marta, Sielska, Danuta, Kostyk, Ewa, Nyka, Walenty, Zaremba, Jacek

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 109 KB

english, 2008

28

Guidelines on the diagnosis and management of acute pulmonary embolism: The Task Force for the Diagnosis and Management of Acute Pulmonary Embolism of the European Society of Cardiology (ESC)

Torbicki, A., Perrier, A., Konstantinides, S., Agnelli, G., Galie, N., Pruszczyk, P., Bengel, F., Brady, A. J.B., Ferreira, D., Janssens, U.

Journal:

European Heart Journal

Year:

2008

Language:

english

File:

PDF, 1006 KB

english, 2008

29

Long-term effects of acute pulmonary embolism on echocardiographic doppler indices and functional capacity

M. Ciurzyński, M. Kurzyna, A. Bochowicz, B. Lichodziejewska, D. Liszewska-Pfejfer, P. Pruszczyk, A. Torbicki

Journal:

Clinical Cardiology

Year:

2004

Language:

english

File:

PDF, 55 KB

english, 2004

30

Lambert–Eaton myasthenic syndrome in childhood

A. Kostera-Pruszczyk, B. Ryniewicz, K. Rowinska-Marcinska, M. Dutkiewicz, A. Kamińska

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 123 KB

english, 2009

31

Heart rate variability in pheochromocytoma

Barbara Dabrowska, Andrzej Dabrowski, Piotr Pruszczyk, Andrzej Skrobowski, Bozenna Wocial

Journal:

The American Journal of Cardiology

Year:

1995

Language:

english

File:

PDF, 403 KB

english, 1995

32

Myotonic syndromes: one gene – different phenotypes

B. Ryniewicz, A. Kostera-Pruszczyk, H. Kwieciński

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 46 KB

english, 2008

33

Myasthenia gravis and myasthenic syndromes

A. Kostera-Pruszczyk

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 45 KB

english, 2008

34

Late-onset congenital myasthenic syndrome due to rapsyn mutation

A. Kostera-Pruszczyk, A. Łusakowska, A. Macias, S. Maxwell, D. Beeson, A. Kamińska

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

35

Does a premutation in the ZFN9 gene result in an early onset of myotonic dystrophy type 2?

A. Łusakowska, A. Sulek-Piatkowska, W. Krysa, A. Kostera- Pruszczyk, M. Rajkiewicz, J. Zaremba

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

36

The incidence of SMA in Poland

M. Jędrzejowska, J. Zimowski, M. Milewski, A. Kostera-Pruszczyk

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 46 KB

english, 2008

37

Carpal tunnel syndrome in children – we need to find out what caused it

M. Lipowska, K. Rowińska-Marcińska, B. Ryniewicz, M. Gola, M. Olszewicz-Dukaczewska, I. Domitrz, A. Kostera-Pruszczyk

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

38

Electrophysiological criteria separate childhood CIDP from HNPP

M. Gaweł, B. Ryniewicz, K. Rowińska-Marcińska, A. Kochański, E. Szmidt-Sałkowska, A. Kostera-Pruszczyk

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 55 KB

english, 2008

39

Dopa responsive dystonia with dyskinesia due to GCH1 mutation – case report

A. Potulska-Chromik, A. Kostera-Pruszczyk

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 54 KB

english, 2008

40

Juvenile onset painless legs and moving toes syndrome – report on two families

A. Potulska-Chromik, A. Łusakowska, W. Palasik, A. Kostera-Pruszczyk

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

41

NMP024 Clinical, morphological, and genetic aspects in a family with a LAMP-2 gene mutation (Danon disease)

A. Kostera-Pruszczyk, A. Nadaj-Pakleza, P. Pruszczyk, P. Charron, P. Laforet, P. Richard, A. Kaminska

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 45 KB

english, 2007

42

Does plasma neuropeptide-Y immunoreactivity in patients with pheochromocytoma depend on hormonal activity of the tumor?

P. Pruszczyk, B. Wocial, H. Ignatowska-Świtalska, T. Feltynowski, M. Ellafi, A. Januszewicz, M. Lapiński, Z. Źukowska-Grojec, W. Januszewicz

Journal:

Clinica Chimica Acta

Year:

1995

Language:

english

File:

PDF, 368 KB

english, 1995

43

P103 Electrophysiological findings in hereditary motor and sensory neuropathy type I and II, a conduction velocity study

Barbara Emeryk-Szajewska, Barbara Badurska, Anna Kostera-Pruszczyk

Journal:

Electroencephalography and Clinical Neurophysiology

Year:

1996

Language:

english

File:

PDF, 123 KB

english, 1996

44

P483 Sympathetic skin response in multiple sclerosis

B.Z. Zakrzewska-Pniewska, A. Kamińska, A. Kostera-Pruszczyk

Journal:

Electroencephalography and Clinical Neurophysiology

Year:

1996

Language:

english

File:

PDF, 136 KB

english, 1996

45

Plasma heart-type fatty acid binding protein is superior to troponin and myoglobin for rapid risk stratification in acute pulmonary embolism

Anna Kaczyñska, Maurice M.A.L. Pelsers, Anna Bochowicz, Maciej Kostrubiec, Jan F.C. Glatz, Piotr Pruszczyk

Journal:

Clinica Chimica Acta

Year:

2006

Language:

english

File:

PDF, 281 KB

english, 2006

46

Persistent NT-proBNP elevation in acute pulmonary embolism predicts early death

Maciej Kostrubiec, Piotr Pruszczyk, Anna Kaczynska, Nils Kucher

Journal:

Clinica Chimica Acta

Year:

2007

Language:

english

File:

PDF, 168 KB

english, 2007

47

B-type natriuretic peptide in acute pulmonary embolism

Anna Kaczyńska, Maciej Kostrubiec, Michał Ciurzyński, Piotr Pruszczyk

Journal:

Clinica Chimica Acta

Year:

2008

Language:

english

File:

PDF, 155 KB

english, 2008

48

Myoglobin stratifies short-term risk in acute major pulmonary embolism

Piotr Pruszczyk, Anna Bochowicz, Maciej Kostrubiec, Adam Torbicki, Marcin Szulc, Hubert Gurba, Krystyna Kuczynska, Hanna Berent

Journal:

Clinica Chimica Acta

Year:

2003

Language:

english

File:

PDF, 78 KB

english, 2003

49

Plasma neuropeptide Y immunoreactivity influences left ventricular mass in pheochromocytoma

Agnieszka Kuch-Wocial, Katarzyna Ślubowska, Maciej Kostrubiec, Tomasz Pasierski, Włodzimierz Januszewicz, Hanna Świtalska, Bożena Wocial, Piotr Pruszczyk

Journal:

Clinica Chimica Acta

Year:

2004

Language:

english

File:

PDF, 131 KB

english, 2004

50

Echocardiographic assessment of left ventricular morphology and function in patients with Emery–Dreifuss muscular dystrophy

A. Draminska, A. Kuch-Wocial, M. Szulc, A. Zwolinska, G. Styczynski, M. Kostrubiec, I. Hausmanowa-Petrusewicz, P. Pruszczyk

Journal:

International Journal of Cardiology

Year:

2005

Language:

english

File:

PDF, 84 KB

english, 2005

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