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Psychosis Complicating Friedreich Ataxia.
- Published in:
- Movement Disorders Clinical Practice, 2015, v. 2, n. 1, p. 84, doi. 10.1002/mdc3.12115
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- Publication type:
- Article
R124C Mutation of the βIGH3 Gene Leads to Remarkable Phenotypic Variability in a Greek Four-Generation Family with Lattice Corneal Dystrophy Type 1.
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- Ophthalmologica, 2001, v. 215, n. 6, p. 444, doi. 10.1159/000050906
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- Publication type:
- Article
Down syndrome and male fertility: PCR-derived fingerprinting, serological and andrological investigations.
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- Clinical Genetics, 1994, v. 46, n. 4, p. 324, doi. 10.1111/j.1399-0004.1994.tb04171.x
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- Publication type:
- Article
Clinical and Neurophysiological Profile of Four German Families with Spinocerebellar Ataxia Type 14.
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- Cerebellum, 2014, v. 13, n. 1, p. 89, doi. 10.1007/s12311-013-0522-7
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- Publication type:
- Article
Structural Changes Associated with Progression of Motor Deficits in Spinocerebellar Ataxia 17.
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- Cerebellum, 2010, v. 9, n. 2, p. 210, doi. 10.1007/s12311-009-0150-4
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- Publication type:
- Article
Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein.
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- Cerebellum, 2007, v. 6, n. 4, p. 300, doi. 10.1080/14734220601136177
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- Publication type:
- Article
Spectrin mutations cause spinocerebellar ataxia type 5.
- Published in:
- Nature Genetics, 2006, v. 38, n. 2, p. 184, doi. 10.1038/ng1728
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- Publication type:
- Article
Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy.
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- 2000
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- Publication type:
- journal article
Prenatal diagnosis of Huntington's disease (HD): Experiences with six cases and PCR.
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- Prenatal Diagnosis, 1992, v. 12, n. 12, p. 1055, doi. 10.1002/pd.1970121212
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- Publication type:
- Article
CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study.
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- PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0015125
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- Publication type:
- Article
Missense exchanges in the TTBK2 gene mutated in SCA11.
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- Journal of Neurology, 2009, v. 256, n. 11, p. 1856, doi. 10.1007/s00415-009-5209-0
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- Publication type:
- Article
Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic.
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- Journal of Neurology, 2008, v. 255, n. 4, p. 612, doi. 10.1007/s00415-008-0771-4
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- Publication type:
- Article
Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.
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- Journal of Neurology, 2006, v. 253, n. 8, p. 1111, doi. 10.1007/s00415-006-0209-9
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- Publication type:
- Article
Aprataxin mutations are a rare cause of early onset ataxia in Germany.
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- Journal of Neurology, 2004, v. 251, n. 5, p. 591, doi. 10.1007/s00415-004-0374-7
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- Publication type:
- Article
Phenotypical variability of expanded alleles in the TATA-binding protein gene : Reduced penetrance in SCA17?
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- Journal of Neurology, 2003, v. 250, n. 2, p. 161, doi. 10.1007/s00415-003-0958-7
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- Publication type:
- Article
The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.
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- Journal of Molecular Medicine, 2001, v. 78, n. 11, p. 626, doi. 10.1007/s001090000162
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- Publication type:
- Article
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 286, doi. 10.1038/ejhg.2013.150
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- Publication type:
- Article
Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
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- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 965, doi. 10.1038/ejhg.2010.40
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- Publication type:
- Article
Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.
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- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 417, doi. 10.1038/ejhg.2008.190
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- Publication type:
- Article
Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 215, doi. 10.1038/sj.ejhg.5201954
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- Publication type:
- Article
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.
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- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 118, doi. 10.1038/sj.ejhg.5201286
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- Publication type:
- Article
Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 204
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- Publication type:
- Article
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.
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- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 160
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- Publication type:
- Article
Präimplantationsdiagnostik.
- Published in:
- Medizinische Genetik, 2016, v. 28, n. 3, p. 304, doi. 10.1007/s11825-016-0096-0
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- Publication type:
- Article
Präimplantationsdiagnostik.
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- Medizinische Genetik, 2014, v. 26, n. 4, p. 417, doi. 10.1007/s11825-014-0018-y
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- Publication type:
- Article
Do CTG expansions at the SCA8 locus cause ataxia?
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- Annals of Neurology, 2003, v. 54, n. 1, p. 110
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- Publication type:
- Article
Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism.
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- Annals of Neurology, 2002, v. 52, n. 2, p. 257, doi. 10.1002/ana.10270
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- Publication type:
- Article
Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity.
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- Journal of Neurology, 2024, v. 271, n. 9, p. 6289, doi. 10.1007/s00415-024-12600-0
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- Publication type:
- Article
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 ( FAM36A) mutation.
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- Journal of Neurology, 2014, v. 261, n. 1, p. 207, doi. 10.1007/s00415-013-7177-7
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- Publication type:
- Article
Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic.
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- Journal of Neurology, 2011, v. 258, n. 7, p. 1223, doi. 10.1007/s00415-011-5905-4
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- Publication type:
- Article
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study.
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- Movement Disorders, 2022, v. 37, n. 12, p. 2427, doi. 10.1002/mds.29221
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- Publication type:
- Article
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
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- Human Mutation, 2004, v. 23, n. 6, p. 630, doi. 10.1002/humu.9248
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- Publication type:
- Article
Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15.
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- Movement Disorders, 2010, v. 25, n. 11, p. 1577, doi. 10.1002/mds.22857
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- Publication type:
- Article
Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
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- Movement Disorders, 2005, v. 20, n. 8, p. 1060, doi. 10.1002/mds.20512
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- Publication type:
- Article
Focal dystonia as a presenting sign of spinocerebellar ataxia 17.
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- Movement Disorders, 2004, v. 19, n. 2, p. 217, doi. 10.1002/mds.10600
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- Publication type:
- Article
Linkage Disequilibrium and Haplotype Analysis in German Friedreich Ataxia Families.
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- Human Heredity, 1999, v. 49, n. 2, p. 90, doi. 10.1159/000022851
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- Publication type:
- Article
Allele Frequencies of DNA Markers Genetically Linked to Friedreich Ataxia in the German Population.
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- Human Heredity, 1993, v. 43, n. 2, p. 78, doi. 10.1159/000154121
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- Publication type:
- Article
SCA6 is Caused by Moderate CAG Expansion in the α1A-Voltage-Dependent Calcium Channel Gene.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 8, p. 1289, doi. 10.1093/hmg/6.8.1289
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- Publication type:
- Article
Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene.
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- Human Molecular Genetics, 1993, v. 2, n. 12, p. 2063
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- Publication type:
- Article
PCR analysis of a three-allelic PvuII-RFLP at D4S127 closely linked to the Huntington disease locus.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 321, doi. 10.1111/j.1399-0004.1993.tb03828.x
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- Publication type:
- Article