相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。NOTCH2NLC-related disorders: the widening spectrum and genotype-phenotype correlation
Yu Fan et al.
JOURNAL OF MEDICAL GENETICS (2022)
Characteristics of ocular findings of patients with neuronal intranuclear inclusion disease
Chang Liu et al.
NEUROLOGICAL SCIENCES (2022)
GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies
Yi-Chu Liao et al.
NEUROLOGY (2022)
Assessing the NOTCH2NLC GGC expansion in essential tremor patients from eastern China
Yaping Yan et al.
BRAIN (2021)
The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3
Jiaxi Yu et al.
BRAIN (2021)
Cognitive profiles in adult-onset neuronal intranuclear inclusion disease: a case series from the memory clinic
Fen Wang et al.
NEUROLOGICAL SCIENCES (2021)
Interrelated Pathogenesis? Neuronal Intranuclear Inclusion Disease Combining With Hemiplegic Migraine
Rongfei Wang et al.
HEADACHE (2020)
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor
Qi-Ying Sun et al.
BRAIN (2020)
Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias
Bin Jiao et al.
NEUROBIOLOGY OF AGING (2020)
Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy
Takaaki Hayashi et al.
OPHTHALMIC GENETICS (2020)
Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorder
Hao Chen et al.
BRAIN (2020)
Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy
Pu Fang et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2020)
A case of adult-onset neuronal intranuclear inclusion disease without abnormal high-intensity signal in the corticomedullary junction in diffusion-weighted imaging
Hui Dong et al.
NEUROLOGICAL SCIENCES (2020)
NOTCH2NLCGGCRepeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long-Term Follow-up
Adeline S. L. Ng et al.
ANNALS OF NEUROLOGY (2020)
Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort
Zhiyong Chen et al.
CLINICAL GENETICS (2020)
A Case Report of Sporadic Adult Neuronal Intranuclear Inclusion Disease (NIID) With Stroke-Like Onset
Pan Lin et al.
FRONTIERS IN NEUROLOGY (2020)
Clinical and pathological features in adult-onset NIID patients with cortical enhancement
Huiting Liang et al.
JOURNAL OF NEUROLOGY (2020)
Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis
Yanchun Yuan et al.
NEUROLOGY (2020)
Association of NOTCH2NLC Repeat Expansions With Parkinson Disease
Dongrui Ma et al.
JAMA NEUROLOGY (2020)
Re-defining the clinicopathological spectrum of neuronal intranuclear inclusion disease
Hao Chen et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2020)
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
Masashi Ogasawara et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2020)
Epithelial Cell Migration and Proliferation Patterns During Initial Wound Closure in Normal Mice and an Experimental Model of Limbal Stem Cell Deficiency
Sudan Puri et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2020)
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
Yun Tian et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
Jun Sone et al.
NATURE GENETICS (2019)
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Hiroyuki Ishiura et al.
NATURE GENETICS (2019)
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Masaki Okubo et al.
ANNALS OF NEUROLOGY (2019)
Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease
Jianwen Deng et al.
JOURNAL OF MEDICAL GENETICS (2019)
Fragile X syndrome
Randi J. Hagerman et al.
NATURE REVIEWS DISEASE PRIMERS (2017)
MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases
A. Sugiyama et al.
AMERICAN JOURNAL OF NEURORADIOLOGY (2017)
Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma
Ellen Gelpi et al.
BRAIN (2017)
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease
Jun Sone et al.
BRAIN (2016)
Memory Loss and Frontal Cognitive Dysfunction in a Patient with Adult-onset Neuronal Intranuclear Inclusion Disease
Kunihiko Araki et al.
INTERNAL MEDICINE (2016)
Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy
Jun Sone et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2014)
The Unstable Repeats-Three Evolving Faces of Neurological Disease
David L. Nelson et al.
NEURON (2013)
Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy
J Sone et al.
NEUROLOGY (2005)
Neuronal intranuclear hyaline inclusion disease
J Takahashi-Fujigasaki
NEUROPATHOLOGY (2003)
分享论文
