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List of works by Anna Łusakowska

A form of muscular dystrophy associated with pathogenic variants in JAG2

scientific article published on 15 April 2021

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure

scientific article published on 08 August 2019

Abnormal spontaneous activity in primary myopathic disorders

scientific article published on 21 December 2016

Cardiac autonomic function in type 1 and type 2 myotonic dystrophy

scientific article published on 20 March 2017

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

scientific article published on 31 December 2021

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

Consensus-based care recommendations for adults with myotonic dystrophy type 2

scientific article published on 01 August 2019

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

Does quantitative EMG differ myotonic dystrophy type 2 and type 1?

scientific article published on 25 June 2014

Effects of repeated abobotulinumtoxinA injections in upper limb spasticity

scientific article published on 7 June 2017

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

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

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

scientific article published on 07 March 2018

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

scientific article published on 19 June 2018

Hypoglossal nerve palsy as an isolated syndrome of internal carotid artery dissection: A review of the literature and a case report

scientific article published on 06 July 2018

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

Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress.

scientific article published on 16 June 2017

Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial

scientific article published on 05 November 2020

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

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

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

Myotonic dystrophy - a new insight into a well-known disease

scientific article published in May 2010

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

Peripheral nerve involvement in myotonic dystrophy type 2 - similar or different than in myotonic dystrophy type 1?

scientific article published on 06 May 2015

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy.

scientific article published on 12 April 2018

Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family

scientific article published on 30 August 2011

Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis.

scientific article published on 30 July 2013

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.

scientific article

Screening for late-onset Pompe disease in Poland

scientific article published on 18 June 2019

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

scientific article published on 25 April 2011

Supraventricular and Ventricular Arrhythmias Are Related to the Type of Myotonic Dystrophy but Not to Disease Duration or Neurological Status.

scientific article published on 22 July 2016

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

scientific article published on 17 March 2015

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

scientific article published on 26 August 2013

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

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

Value of short exercise and short exercise with cooling tests in the diagnosis of myotonic dystrophies (DM1 and DM2)

scientific article published on 03 July 2013

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

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

scientific article published on 16 June 2015

miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

scientific article published on 14 September 2021

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