Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
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Times Cited: 112
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Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Jun Sone, Satomi Mitsuhashi, Atsushi Fujita, Takeshi Mizuguchi, Kohei Hamanaka, Keiko Mori, Haruki Koike, Akihiro Hashiguchi, Hiroshi Takashima, Hiroshi Sugiyama,[...]. Nat Genet 2019
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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
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Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.
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Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.
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Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease.
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Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease.
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Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy.
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Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy.
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Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias.
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Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
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Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis.
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Association of NOTCH2NLC Repeat Expansions With Parkinson Disease.
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The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
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Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
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Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
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MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases.
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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
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NOTCH2NLC GGC Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long-Term Follow-up.
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NOTCH2NLC Intermediate-Length Repeat Expansions Are Associated with Parkinson Disease.
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Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease.
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Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.
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Neuronal intranuclear inclusion disease is genetically heterogeneous.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.