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1

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

2

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

3

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

4

P204: Electrophysiological assessment of dysautonomia in multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). A comparative study

Nojszewska, M., Potulska-Chromik, A., Jamrozik, Z., Janik, P., Beata Z., Z.-P.

Journal:

Clinical Neurophysiology

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

5

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Fichna, Jakub Piotr, Macias, Anna, Piechota, Marcin, Korostyński, Michał, Potulska-Chromik, Anna, Redowicz, Maria Jolanta, Zekanowski, Cezary

Journal:

Year:

2018

Language:

english

File:

PDF, 1.06 MB

english, 2018

6

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

7

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

8

P1.069 Genetic spectrum of dopa-responsive dystonia in the Polish families

M. Rudzinska, M. Bodzioch, K. Lapicka-Bodzioch, B. Zapała, A. Potulska-Chromik, P. Janik, Z. Jamrozik, A. Dembinska-Kiec, A. Szczudlik

Journal:

Parkinsonism & Related Disorders

Year:

2009

Language:

english

File:

PDF, 65 KB

english, 2009

9

1.271 MUTATION SPECTRUM OF GENE ENCODING EPSILON-SARCOGLYCAN IN MYOCLONUS-DYSTONIA SYNDROME

M. Rudzińska, M. Szubiga, M. Bik-Multanowski, P. Janik, A. Potulska-Chromik, B. Brodacki, D. Koziorowski, A. Szczudlik

Journal:

Parkinsonism & Related Disorders

Year:

2012

Language:

english

File:

PDF, 71 KB

english, 2012

10

Long lasting dysautonomia due to botulinum toxin B poisoning: clinical- laboratory follow up and difficulties in initial diagnosis

Potulska-Chromik, Anna, Zakrzewska-Pniewska, Beata, Szmidt-Sałkowska, Elżbieta, Lewandowski, Jacek, Siński, Maciej, Przyjałkowski, Witold, Kostera-Pruszczyk, Anna

Journal:

BMC Research Notes

Year:

2013

Language:

english

File:

PDF, 121 KB

english, 2013

11

Czy wszystkie preparaty toksyny botulinowej typu A są takie same? Porównanie trzech preparatów toksyny botulinowej typu A w zarejestrowanych wskazaniach w neurologii

Sławek, Jarosław, Car, Halina, Bonikowski, Marcin, Bogucki, Andrzej, Koziorowski, Dariusz, Potulska-Chromik, Anna, Rudzińska, Monika

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2010

Language:

polish

File:

PDF, 171 KB

polish, 2010

12

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

13

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

14

Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients

Koziorowski, Dariusz, Hoffman-Zacharska, Dorota, Sławek, Jarosław, Jamrozik, Zygmunt, Janik, Piotr, Potulska-Chromik, Anna, Roszmann, Anna, Tataj, Renata, Bal, Jerzy, Friedman, Andrzej

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2013

File:

PDF, 81 KB

2013

15

Poster 155 Dysport®, AbobotulinumtoxinA, is Effective with a Favorable Safety Profile in the Treatment of Cervical Dystonia: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

Picaut, Philippe, Pharmacy, Doctor of, Poewe, Werner, Bihari, Katalin, Banach, Marta, Bares, Martin, Potulska-Chromik, Anna, Ehler, Edvard, Liu, Wenzhong J.

Journal:

Year:

2014

Language:

english

File:

PDF, 65 KB

english, 2014

16

Carpal Tunnel Syndrome in Children

Potulska-Chromik, A., Lipowska, M., Gawel, M., Ryniewicz, B., Maj, E., Kostera-Pruszczyk, A.

Journal:

Journal of Child Neurology

Year:

2014

Language:

english

File:

PDF, 123 KB

english, 2014

17

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

18

Genomic instability in thePARK2locus is associated with Parkinson’s disease

Ambroziak, Wojciech, Koziorowski, Dariusz, Duszyc, Kinga, Górka-Skoczylas, Paulina, Potulska-Chromik, Anna, Sławek, Jarosław, Hoffman-Zacharska, Dorota

Journal:

Journal of Applied Genetics

Year:

2015

Language:

english

File:

PDF, 1.01 MB

english, 2015

19

Original article Clinical and neuroimaging correlation of movement disorders in multiple sclerosis: case series and review of the literature

Potulska-Chromik, Anna, Rudzinska, Monika, Nojszewska, Monika, Podlecka-Piętowska, Aleksandra, Szczudlik, Andrzej, Zakrzewska-Pniewska, Beata, Gołębiowski, Marek

Journal:

Folia Neuropathologica

Year:

2014

Language:

english

File:

PDF, 369 KB

english, 2014

20

Phenotypic variability of Pro209Leu BAG3 mutations: Cardiomyopathy, demyelinating neuropathy and a long QT syndrome

Kostera-Pruszczyk, A., Ploski, R., Potulska-Chromik, A., Sadurska, E., Pruszczyk, P., Karolczak, J., Redowicz, M., Kaminska, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

21

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome

Kostera-Pruszczyk, Anna, Suszek, Małgorzata, Płoski, Rafał, Franaszczyk, Maria, Potulska-Chromik, Anna, Pruszczyk, Piotr, Sadurska, Elżbieta, Karolczak, Justyna, Kamińska, Anna M., Rędowicz, Maria Jol

Journal:

Journal of Muscle Research and Cell Motility

Year:

2015

Language:

english

File:

PDF, 6.57 MB

english, 2015

22

161. Results from a double-blind and open-label phase 3 study of a novel liquid formulation of abobotulinumtoxinA (Dysport) in the treatment of cervical dystonia

Poewe, Werner, Bihari, Katalin, Banach, Marta, Bares, Martin, Potulska-Chromik, Anna, Ehler, Edvard, Jerry Liu, W., Picaut, Philippe

Journal:

Year:

2015

Language:

english

File:

PDF, 57 KB

english, 2015

23

Scintigraphic Evaluation of Mild to Moderate Dysphagia in Motor Neuron Disease

Szacka, Katarzyna, Potulska-Chromik, Anna, Fronczewska-Wieniawska, Katarzyna, Spychała, Andrzej, Kròlicki, Leszek, Kuźma-Kozakiewicz, Magdalena

Journal:

Clinical Nuclear Medicine

Year:

2016

Language:

english

File:

PDF, 435 KB

english, 2016

24

Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease

Kostera-Pruszczyk, Anna, Kosinska, Joanna, Pollak, Agnieszka, Stawinski, Piotr, Walczak, Anna, Wasilewska, Krystyna, Potulska-Chromik, Anna, Szczudlik, Piotr, Kaminska, Anna, Ploski, Rafal

Journal:

Journal of the Peripheral Nervous System

Year:

2014

Language:

english

File:

PDF, 854 KB

english, 2014

25

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

26

Efficacy and safety of abobotulinumtoxinA liquid formulation in cervical dystonia: A randomized-controlled trial

Poewe, Werner, Burbaud, Pierre, Castelnovo, Giovanni, Jost, Wolfgang H., Ceballos-Baumann, Andres O., Banach, Marta, Potulska-Chromik, Anna, Ferreira, Joaquim J., Bihari, Katalin, Ehler, Edvard, Bares

Journal:

Movement Disorders

Year:

2016

Language:

english

File:

PDF, 391 KB

english, 2016

27

Dopa-responsive dystonia or early-onset Parkinson disease – Genotype–phenotype correlation

Potulska-Chromik, Anna, Hoffman-Zacharska, Dorota, Łukawska, Małgorzata, Kostera-Pruszczyk, Anna

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2016

Language:

english

File:

PDF, 490 KB

english, 2016

28

A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure

Fichna, Jakub, Potulska-Chromik, Anna, Miszta, Przemysław, Redowicz, Maria Jolanta, Kaminska, Anna M., Zekanowski, Cezary, Filipek, Sławomir

Journal:

Year:

2016

Language:

english

File:

PDF, 859 KB

english, 2016

29

Abnormal spontaneous activity in primary myopathic disorders

Nojszewska, Monika, Gawel, Malgorzata, Szmidt-Salkowska, Elzbieta, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Lusakowska, Anna, Kierdaszuk, Biruta, Lipowska, Marta, Macias, Anna, Gawel, Damian,

Journal:

Year:

2016

Language:

english

File:

PDF, 911 KB

english, 2016

30

Screening for late onset Pompe disease – Single center experience

Kostera-Pruszczyk, A., Potulska-Chromik, A., Lusakowska, A., Macias, A., Ryniewicz, B., Nowakowska-Jastrzębska, A., Jastrzebski, M., Kaminska, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

31

Two Desmin Gene Mutations Associated with Myofibrillar Myopathies in Polish Families

Fichna, Jakub Piotr, Karolczak, Justyna, Potulska-Chromik, Anna, Miszta, Przemyslaw, Berdynski, Mariusz, Sikorska, Agata, Filipek, Slawomir, Redowicz, Maria Jolanta, Kaminska, Anna, Zekanowski, Cezary

Journal:

Year:

2014

Language:

english

File:

PDF, 1.36 MB

english, 2014

32

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

Aartsma-Rus, Annemieke, Hegde, Madhuri, Ben-Omran, Tawfeg, Buccella, Filippo, Ferlini, Alessandra, Gallano, Pia, Howell, R. Rodney, Leturcq, France, Martin, Ann S., Potulska-Chromik, Anna, Saute, Jona

Journal:

The Journal of Pediatrics

Year:

2019

Language:

english

File:

PDF, 1.90 MB

english, 2019

33

P19-S Can nerve conduction studies help to distinguish motor CIDP and MMN?

Lipowska, Marta, Barańska, Judyta, Gaweł, Małgorzata, Potulska-Chromik, Anna, Kostera-Pruszczyk, Anna

Journal:

Clinical Neurophysiology

Year:

2019

Language:

english

File:

PDF, 37 KB

english, 2019

34

P84-F Subacute polyneuropathy partially responsive to immunomodulatory treatment coexisting with POLG mutation

Lukawska, Malgorzata, Potulska-Chromik, Anna, Lipowska, Marta, Nojszewska, Monika, Maj, Edyta, Gołębiowski, Marek, Mazurczak, Tomasz, Kaliszewska, Magdalena, Tońska, Katarzyna, Kostera-Pruszczyk, Anna

Journal:

Clinical Neurophysiology

Year:

2019

Language:

english

File:

PDF, 45 KB

english, 2019

35

P15-S Clinical and electrophysiological characteristics of childhood CIDP

Lukawska, Malgorzata, Potulska-Chromik, Anna, Seroka, Andrzej, Kostera-Pruszczyk, Anna

Journal:

Clinical Neurophysiology

Year:

2019

Language:

english

File:

PDF, 35 KB

english, 2019

36

E-POSTERS – NEUROPATHIES / ALS – CASE REPORTS

Fraczek, A., Potulska-Chromik, A., Bednarska-Makaruk, M., Sulek, A., Obersztyn, E., Braun-Walicka, N., Ryniewicz, B., Kostera-Pruszczyk, A.

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 64 KB

2019

37

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

Year:

2012

Language:

english

File:

PDF, 257 KB

english, 2012

38

Acute Autonomic Neuropathy as a Rare Cause of Severe Arterial Hypertension in a Child

KamiÅska, Halszka, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Werner, BoÅ¼ena

Journal:

International Journal of Pediatrics and Adolescent Medicine

Year:

2020

File:

PDF, 1.52 MB

2020