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List of works by Anna Kostera-Pruszczyk

A form of muscular dystrophy associated with pathogenic variants in JAG2

scientific article published on 15 April 2021

A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.

scientific article

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

scientific article published on 01 March 2012

Abnormal spontaneous activity in primary myopathic disorders

scientific article published on 21 December 2016

Accessory deep peroneal nerve - a clinically significant anomaly?

scientific article published on 01 March 2008

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

scientific article published on 6 February 2016

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

scientific article

Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA).

scientific article published in March 2005

Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?

scientific article published on 01 March 2016

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

scientific article published on 6 November 2015

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

Carpal tunnel syndrome in children

scientific article published on 01 October 2013

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

scientific article published on 01 September 2005

Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome.

scientific article

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

scientific article published on 10 November 2017

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

scientific article published on 30 October 2014

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

scientific article published on 15 August 2019

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

article

Determinants of Quality of Life in Myasthenia Gravis Patients

scientific article published on 23 September 2020

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

scientific article published on 12 September 2016

Effect of age and gender on the number of motor units in healthy subjects estimated by the multipoint incremental MUNE method

scientific article published in June 2014

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Electromyographic findings in sporadic inclusion body myositis

scientific article published on 11 February 2018

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

scientific article published on 01 March 1998

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries

scientific article published on 24 December 2020

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

scientific article

European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy

scientific article published on 09 July 2020

Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients

scientific article published on 07 March 2018

Exome sequencing reveals mutations inMFN2andGDAP1in severe Charcot-Marie-Tooth disease

scientific article published on 01 September 2014

Generation of DMBi002-A human induced pluripotent stem cell line from patient with Spinal muscular atrophy type 3

Genome-wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A, and Identification of ZBTB10 and Three Distinct HLA Associations

scientific article published on 10 October 2015

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

scientific article published in 2022

Gross Motor Function Disorders in Patients with Alternating Hemiplegia of Childhood

scientific article published on 29 July 2020

Heme oxygenase-1 influences satellite cells and progression of Duchenne muscular dystrophy in mice.

scientific article published on 19 April 2018

Hereditary sensorimotor neuropathy in electrophysiological studies

scientific article published on 01 March 1998

High incidence and clinical characteristics of fibromuscular dysplasia in patients with spontaneous cervical artery dissection: The ARCADIA-POL study

scientific article published on 10 February 2019

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

scientific article published on 17 November 2017

Incidence of spinal muscular atrophy in Poland--more frequent than predicted?

scientific article published on 15 January 2010

Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome

scientific article published on 13 March 2006

Juvenile seropositive myasthenia gravis with anti-MuSK antibody after thymectomy.

scientific article published on 23 June 2009

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

scientific article published on 16 March 2010

Lack of miR-378 attenuates muscular dystrophy in mdx mice

scientific article published on 04 June 2020

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

scientific article

Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial

scientific article published on 25 January 2019

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

scientific article published on 24 October 2014

Malignant hyperthermia - what do we know in 2019?

scientific article published on 01 January 2019

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

scientific article published on 27 October 2013

Mechanical thrombectomy in acute stroke - Five years of experience in Poland

scientific article

Median nerve electrophysiological assessment in amyotrophic lateral sclerosis

scientific article published on 01 January 1998

Minimal manifestation status and prednisone withdrawal in the MGTX trial

scientific article published on 01 July 2020

Motor Unit Number Index (MUNIX) as a biomarker of motor unit loss in post-polio syndrome versus needle EMG

scientific article published on 09 March 2019

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

scientific article published on 25 November 2014

Motor unit number estimation as a complementary test to routine electromyography in the diagnosis of amyotrophic lateral sclerosis

scientific article

Multi-minicore myopathy: a clinical and histopathological study of 17 cases

scientific article published on 01 January 2007

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

scientific article published on 26 September 2006

Neurophysiological testing in myasthenia syndromes

scientific article published in January 2003

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

scientific article published on 27 June 2016

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

scientific article published on 24 April 2014

Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy

Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients.

scientific article

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease

scientific article (publication date: 2009)

Prevalence and impact of autoimmune thyroid disease on myasthenia gravis course.

scientific article published on 04 August 2016

Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation

scientific article published on 31 December 2020

Propafenone is not effective for severe ventricular arrhythmias in Andersen-Tawil syndrome

scientific article published on 30 June 2016

Randomized Trial of Thymectomy in Myasthenia Gravis

scientific article

Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy

scientific article published on 19 May 2020

Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation

scientific article published on 4 August 2006

Screening for late-onset Pompe disease in Poland

scientific article published on 18 June 2019

Serum interleukin 15 levels in patients with seropositive myasthenia gravis do not correlate with disease severity

scientific article published on 06 January 2018

Should a cardioverter-defibrillator be implanted in an Andersen-Tawil syndrome patient with severe ventricular arrhythmias and syncope?

scientific article published in January 2014

Spinal muscular atrophy - new therapies, new challenges

scientific article published on 10 January 2020

Spinal muscular atrophy with an overlapping syndrome - "double trouble" or a potentially better outcome?

scientific article published on 05 August 2020

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases

scientific article

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

scientific article published on 17 March 2015

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

scientific article published on 10 November 2018

The needle EMG findings in myotonia congenita

scientific article published on 03 October 2019

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene

article

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation

scientific article published on 29 December 2020

Treatment outcome in juvenile-onset myasthenia gravis

scientific article published on 06 March 2019

Ultra-low radiation dose protocol for CT-guided intrathecal nusinersen injections for patients with spinal muscular atrophy and severe scoliosis

scientific article published in April 2021

Unaffected patients with a homozygous absence of the SMN1 gene

scientific article published on 12 March 2008

VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis

scientific article

WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients

retracted scientific article published on 17 May 2018

X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene

scientific article published on 08 May 2015

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.

scientific article published on 16 June 2015

[A case of the Lambert-Eaton syndrome of non-neoplastic origin. Ten-year follow-up]

scientific article published on 01 May 2006

[Authors' response]

scientific article published on 01 January 2014

[Detection of rare mutations in the dystrophin gene]

scientific article published on 01 April 2009

[F-wave amplitude in peripheral nervous system lesions]

scientific article published on 01 November 2004

[Myasthenia gravis and pregnancy]

scientific article published on 01 February 2005

[QTU pattern in a patient with the Anderson-Tawil syndrome]

scientific article published on 01 March 2010

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