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Article

Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.

Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2002

Pramstaller Peter P, Kis Bernhard, Eskelson Cordula, Hedrich Katja, Scherer Monika, Schwinger Eberhard, Breakefield Xandra O, Kramer Patricia L, Ozelius Laurie J, Klein Christine

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 11921141
DOI: 10.1002/mds.10071

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Related research

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Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.PMID 11921141Read ↗

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Expanding phenotype and clinical heterogeneity in patients with identical mutation of the parkin gene.Semantic proximity Read ↗

Different clinical features in siblings with identical mutations of the Parkin gene (PARK2).Semantic proximity Read ↗

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.Semantic proximity Read ↗

Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonismSemantic proximity Read ↗

Camptocormia, axial dystonia, and parkinsonism: phenotypic heterogeneity of a parkin mutation.Semantic proximity Read ↗

Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations.Semantic proximity Read ↗

Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years.Semantic proximity Read ↗

Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation.Semantic proximity Read ↗

Pseudo-heterozygous rearrangement mutation of parkin.Semantic proximity Read ↗

Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.Semantic proximity Read ↗

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