List of works - Anna Sułek-Piątkowska

A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency.

scientific article published on 26 January 2011

A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy.

scientific article published in June 2006

Are cognitive and behavioural deficits a part of the clinical picture in Kennedy's disease? A case study

scientific article published on 2 April 2009

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data

scientific article

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

Clinical and genetic characteristics of late-onset Huntington's disease

scientific article

Differences in risk factors for dementia with neurodegenerative traits and for vascular dementia.

scientific article published on 25 April 2006

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

scientific article published on 25 June 2014

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

scientific article published on 07 March 2018

Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease

scientific article published on 18 July 2006

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

scientific article published on 13 April 2016

High relative frequency of SCA1 in Poland reflecting a potential founder effect.

scientific article published on 19 May 2016

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

scientific article published on 19 June 2017

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

scientific article published on 11 September 2015

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients

scientific article published on 17 October 2015

Morphological changes of skeletal muscle in spinal and bulbar muscular atrophy (SBMA), Kennedy's disease: a case report.

scientific article published in July 2015

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

scientific article published in May 2010

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

scientific article published on 19 February 2019

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

scientific article published on 06 May 2015

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

scientific article

Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

scientific article published on 01 January 2018

SCA8 repeat expansion coexists with SCA1--not only with SCA6.

scientific article published on October 2003

Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia

scientific article

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.

scientific article published on 28 December 2011

Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.

scientific article published in May 2008

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.

scientific article published on 13 March 2018

The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients.

scientific article published on May 2010

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

β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease

scientific article published on March 2013

List of works by Anna Sułek-Piątkowska

A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency.

A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy.

Are cognitive and behavioural deficits a part of the clinical picture in Kennedy's disease? A case study

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

Clinical and genetic characteristics of late-onset Huntington's disease

Differences in risk factors for dementia with neurodegenerative traits and for vascular dementia.

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

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

Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

High relative frequency of SCA1 in Poland reflecting a potential founder effect.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients

Morphological changes of skeletal muscle in spinal and bulbar muscular atrophy (SBMA), Kennedy's disease: a case report.

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

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

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

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

SCA8 repeat expansion coexists with SCA1--not only with SCA6.

Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.

Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.

The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients.

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

β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease