about
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.Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.High relative frequency of SCA1 in Poland reflecting a potential founder effect.Differences in risk factors for dementia with neurodegenerative traits and for vascular dementia.High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study.A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy.A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency.Morphological changes of skeletal muscle in spinal and bulbar muscular atrophy (SBMA), Kennedy's disease: a case report.Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypesPeripheral nerve involvement in myotonic dystrophy type 2 - similar or different than in myotonic dystrophy type 1?Value of short exercise and short exercise with cooling tests in the diagnosis of myotonic dystrophies (DM1 and DM2)Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patientsDoes 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
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description
onderzoeker
@nl
researcher ORCID ID = 0000-0003-2975-4888
@en
name
Anna Sulek
@ast
Anna Sulek
@en
Anna Sulek
@es
Anna Sulek
@nl
type
label
Anna Sulek
@ast
Anna Sulek
@en
Anna Sulek
@es
Anna Sulek
@nl
prefLabel
Anna Sulek
@ast
Anna Sulek
@en
Anna Sulek
@es
Anna Sulek
@nl
P106
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12762984200
P21
P31
P496
0000-0003-2975-4888