Lista de obras - Anna Sułek-Piątkowska - Dominio Público Uruguay

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

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2013

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

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

artículo científico publicado en 2018

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?

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Lista de obras de 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