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。Neuronal intranuclear inclusion disease: recognition and update
Xi Lu et al.
JOURNAL OF NEURAL TRANSMISSION (2021)
NOTCH2NLC-related repeat expansion disorders: an expanding group of neurodegenerative disorders
Lanxiao Cao et al.
NEUROLOGICAL SCIENCES (2021)
Recent progress in neuronal intranuclear inclusion disease: a review of the literature
Hafiz Khuram Raza et al.
NEUROLOGICAL SCIENCES (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)
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)
Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy
Tasuku Ishihara et al.
NEUROLOGY-GENETICS (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 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)
LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature
Yanyan Zhang et al.
FRONTIERS IN NEUROSCIENCE (2019)
Autosomal Dominant Leukodystrophy: A Disease of the Nuclear Lamina
Quasar S. Padiath
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2019)
Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
Naomi Mezaki et al.
NEUROLOGY-GENETICS (2018)
An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis
Yi Dai et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2017)
A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: Clinical, autonomic and neuropsychological findings
Rossana Terlizzi et al.
AUTONOMIC NEUROSCIENCE-BASIC & CLINICAL (2016)
LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course
Johannes Finnsson et al.
ANNALS OF NEUROLOGY (2015)
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)
Elisa Giorgio et al.
HUMAN MOLECULAR GENETICS (2015)
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
Sumit Parikh et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Adult-Onset Leukodystrophy: Review of 3 Clinicopathologic Phenotypes and a Proposed Classification
Murad Alturkustani et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2013)
MR Imaging Characteristics and Neuropathology of the Spinal Cord in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms
J. Sundblom et al.
AMERICAN JOURNAL OF NEURORADIOLOGY (2009)
Lamin B1 duplications cause autosomal dominant leukodystrophy
Quasar S. Padiath et al.
NATURE GENETICS (2006)
Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23
Lena Marklund et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2006)
Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31
CM Coffeen et al.
HUMAN MOLECULAR GENETICS (2000)
分享论文
