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Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonismThe phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 geneAn unusual pedigree with microcornea-cataract syndrome.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.High relative frequency of SCA1 in Poland reflecting a potential founder effect.A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene.The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients.Hereditary form of prion disease in Poland.Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.Frontotemporal lobar degeneration with MAPT mutation in an Italian-Polish family. A case report.A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy.Two mutations in one dystrophin gene.MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency.Psychological and sociological investigation of XYY prisoners.Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigreesFamilial occurrence of the LEOPARD syndrome.Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay.Chronic form of childhood spinal muscular atrophy. Are the problems of its genetics really solved?Prenatal diagnosis of Sanfilippo disease type BUnaffected patients with a homozygous absence of the SMN1 geneSubtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic featuresCowden syndrome and the associated Lhermitte-Duclos disease--Case presentationDetection of deletions within the dystrophin gene in Polish families affected with Duchenne/Becker muscular dystrophyMolecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patientsEvidence for a relatively high proportion of DM2 mutations in a large group of Polish patientsDeletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene
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researcher ORCID ID = 0000-0002-9546-7767
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J Zaremba
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Jacek Zaremba
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0000-0002-9546-7767