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Times Cited: 120
Times Cited
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Similarity
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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Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
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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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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
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Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease.
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Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
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Association of NOTCH2NLC Repeat Expansions With Parkinson Disease.
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CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
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The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
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Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis.
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Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy.
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Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.
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Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases.
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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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5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy.
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MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases.
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CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome.
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Non-ATG-initiated translation directed by microsatellite expansions.
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Neuronal intranuclear inclusion disease is genetically heterogeneous.
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Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma.
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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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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
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Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.
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Clinical and pathological features in adult-onset NIID patients with cortical enhancement.
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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
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Essential phenotypes of NOTCH2NLC-related repeat expansion disorder.
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NOTCH2NLC Intermediate-Length Repeat Expansions Are Associated with Parkinson Disease.
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Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome.
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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
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Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy.
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Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation.
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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
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GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
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Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
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Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
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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.