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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myop...

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myop...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2267791013

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Publication information

Publisher

New York: Nature Publishing Group US

Subjects

Subjects and topics

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Scope and Contents

Contents

Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear...

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Full title

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

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Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2267791013

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2267791013

Other Identifiers

ISSN

1061-4036

E-ISSN

1546-1718

DOI

10.1038/s41588-019-0458-z

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