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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

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

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

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

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

15

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

16

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

17

Myasthenia gravis and myasthenic syndromes

A. Kostera-Pruszczyk

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 45 KB

english, 2008

18

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

19

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

20

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

21

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

22

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

23

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

24

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

25

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

26

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

27

Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation

Piotr Pruszczyk, Anna Kostera-Pruszczyk, Alexey Shatunov, Bertrand Goudeau, Agnieszka Dramiñska, Kazuyo Takeda, Nyamkhishig Sambuughin, Patrick Vicart, Sergei V. Strelkov, Lev G. Goldfarb, Anna Kamiñs

Journal:

International Journal of Cardiology

Year:

2007

Language:

english

File:

PDF, 1.18 MB

english, 2007

28

Diversity of cardiomyopathy phenotypes caused by mutations in desmin

Anna Kostera-Pruszczyk, Piotr Pruszczyk, Anna Kamińska, Hee-Suk Lee, Lev G. Goldfarb

Journal:

International Journal of Cardiology

Year:

2008

Language:

english

File:

PDF, 106 KB

english, 2008

29

10.3 Atypical muscle groups around the elbow as a common cause of ulnar nerve entrapment in a sportsmen population: a comparison of intra-operative observation and cadaver study

G. Adamczyk, A. Kostera-Pruszczyk, M. Klich, A. Boszczyk, P. Ambroziak

Journal:

The Journal of Hand Surgery: British & European Volume

Year:

2006

Language:

english

File:

PDF, 54 KB

english, 2006

30

10.9 Common sport specific wrist positions can induce changes in “functional” EMG recording of the median nerve—implications for diagnostics and treatment

G. Adamczyk, A. Kostera-Pruszczyk, P. Chomicki-Bindas

Journal:

The Journal of Hand Surgery: British & European Volume

Year:

2006

Language:

english

File:

PDF, 55 KB

english, 2006

31

Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome

Anna Kostera-Pruszczyk, Andrzej Opuchlik, Agnieszka Ługowska, Aleksandra Nadaj, Jacek Bojakowski, Anna Tylki-Szymanska, Anna Kaminska

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 142 KB

english, 2006

32

Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, αB-crystallin, myotilin, LMNA or SEPN1 genes

Anna Kostera-Pruszczyk, Bertrand Goudeau, Ana Ferreiro, Pascal Richard, Stéphanie Simon, Patrick Vicart, Anna Fidzianska

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 412 KB

english, 2006

33

G.P.2.08 SMA frequency in Poland

M. Jedrzejowska, J. Zimowski, D. Sielska, A. Kostera-Pruszczyk, M. Milewski, M. Jurek, I. Hausmanowa-Petrusewicz

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 59 KB

english, 2007

34

S.P.59 Current care practice in Duchenne Muscular Dystrophy in Europe – results of the CARE-NMD cross-sectional survey

Vry, J., Gramsch, K., Rodger, S., Antonova, V., Brabec, P., Catlin, N., Garami, M., Guergueltcheva, V., Herczegfalvi, A., Kaminska, A., Karcagi, V., Kostera-Pruszczyk, A., Lusakowska, A., Mahoney, A.,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

35

G.P.96 The point mutations spectrum of survival motor neuron gene 1 (SMN1) in Polish SMA patients lacking a homozygous SMN1 deletion

Jedrzejowska, M., Gos, M., Zimowski, J., Kostera-Pruszczyk, A., Ryniewicz, B., Hausmanowa-Petrusewicz, I.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

36

DATABASES, REGISTRIES AND BIOMARKERS - POSTER PRESENTATIONS S.P.30 CARE-NMD: The role of patient registries in an international study of care in Duchenne muscular dystrophy

Rodger, S., Antonova, V., Brabec, P., Catlin, N., Garami, M., Gramsch, K., Guergueltcheva, V., Herczegfalvi, A., Kaminska, A., Karcagi, V., Kostera-Pruszczyk, A., Lusakowska, A., Mahoney, A., Mrázová,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

37

Clinical, electrophysiological and immunological remissions after thymectomy in myasthenia gravis

A Kostera-Pruszczyk, B Emeryk-Szajewska, J Świtalska, H Strugalska-Cynowska, K Rowińska-Marcińska, T Nowak-Michalska, B Szyluk

Journal:

Clinical Neurophysiology

Year:

2002

Language:

english

File:

PDF, 98 KB

english, 2002

38

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

39

Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients

Jędrzejowska, Maria, Gos, Monika, Zimowski, Janusz G., Kostera-Pruszczyk, Anna, Ryniewicz, Barbara, Hausmanowa-Petrusewicz, Irena

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 479 KB

english, 2014

40

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

41

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

42

P.17.13 Steroid-responsive polyneuropathy with MRI cauda equina root involvement in a girl with novel heterozygous POLG mutation

Kostera-Pruszczyk, A., Nojszewska, M., Maj, E., Golebiowski, M., Kaliszewska, M., Tonska, K., Bartnik, E., Mazurczak, T., Kaminska, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

43

The impact of autoimmune thyroid disease on the course of myasthenia gravis

Kubiszewska, J., Szczudlik, P., Szyluk, B., Dutkiewicz, M., Bednarczuk, T., Bielecki, M., Bartoszewicz, Z., Kostera-Pruszczyk, A.

Journal:

Journal of the Neurological Sciences

Year:

2013

Language:

english

File:

PDF, 65 KB

english, 2013

44

Age and gender influence on motor unit number in healthy subjects estimated by multipoint incremental MUNE method

Gawel, M., Kostera-Pruszczyk, A.

Journal:

Journal of the Neurological Sciences

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

45

Antititin antibody in early- and late-onset myasthenia gravis

Szczudlik, P., Szyluk, B., Lipowska, M., Ryniewicz, B., Kubiszewska, J., Dutkiewicz, M., Gilhus, N. E., Kostera-Pruszczyk, A.

Journal:

Acta Neurologica Scandinavica

Year:

2014

Language:

english

File:

PDF, 148 KB

english, 2014

46

Recommandations de prise en charge des personnes exposées à un risque de transmission du VIH

Domitrz, Izabela, Gaweł, Małgorzata, Domitrz, Wojciech, Kostera-Pruszczyk, Anna, Kwieciński, Hubert

Journal:

Archives des Maladies Professionnelles et de l'Environnement

Year:

2008

Language:

french

File:

PDF, 221 KB

french, 2008

47

A single-fibre electromyography study of neuromuscular transmission in patients with cluster headache

Domitrz, Izabela, Gaweł, Małgorzata, Domitrz, Wojciech, Kostera-Pruszczyk, Anna, Kwieciński, Hubert

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2012

File:

PDF, 69 KB

2012

48

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

49

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

50

Motor unit loss estimation by the multipoint incremental MUNE method in children with spinal muscular atrophy – A preliminary study

Gawel, Malgorzata, Kostera-Pruszczyk, Anna, Lusakowska, Anna, Jedrzejowska, Maria, Ryniewicz, Barbara, Lipowska, Marta, Gawel, Damian, Kaminska, Anna

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 893 KB

english, 2015

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