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Mutations in the gene DNAJC5 cause autosomal dominant kufs disease in a proportion of cases: Study of the parry family and 8 other families
Milen Velinov
, Natalia Dolzhanskaya
, Michael Gonzalez
, Eric Powell
, Ioanna Konidari
, William Hulme
, John F. Staropoli
, Winnie Xin
, Guang Y. Wen
, Rosemary Barone
, Scott H. Coppel
, Katherine Sims
, W. Ted Brown
, Stephan Züchner
Research output
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Contribution to journal
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Article
›
peer-review
70
Scopus citations
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Dive into the research topics of 'Mutations in the gene DNAJC5 cause autosomal dominant kufs disease in a proportion of cases: Study of the parry family and 8 other families'. Together they form a unique fingerprint.
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Keyphrases
Autosomal Dominant
100%
Kufs Disease
100%
DNAJC5
100%
Neuronal Ceroid Lipofuscinosis
60%
PRPF6
60%
Disease Phenotype
40%
Neuropathology
40%
Sequence Modification
40%
Visual Impairment
40%
Well-defined
20%
Seizure
20%
Neurodegenerative
20%
Cognitive Decline
20%
Brain Tissue
20%
Genetic mutation
20%
Genetic Disease
20%
Proband
20%
Co-segregation
20%
Retinitis pigmentosa
20%
Family First
20%
Affected Family Members
20%
Vision Impairment
20%
Adult-onset
20%
Whole Exome Sequencing
20%
Neighboring Genes
20%
Psychiatric Manifestations
20%
Diagnostic Confirmation
20%
Brain Studies
20%
Biochemistry, Genetics and Molecular Biology
Autosomal Dominant Inheritance
100%
Batten Disease
60%
Clinical Study
20%
Exome Sequencing
20%
Genetic Disorder
20%
Gene Mutation
20%
Proband
20%
Retinitis pigmentosa
20%