An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis

scientific article published on 18 July 2017

An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis is …
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scholarly articleQ13442814

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P356DOI10.3389/FNMOL.2017.00215
P932PMC publication ID5513940
P698PubMed publication ID28769756

P2093author name stringQing Liu
Liying Cui
Bin Peng
Yi Dai
Santasree Banerjee
Shengran Liang
Liri Jin
Yaling Ma
Shengde Li
Yinchang Yang
P2860cites workLamin B1 duplications cause autosomal dominant leukodystrophyQ28261772
Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosisQ28269039
Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse modelQ30540206
Diseases of the nuclear envelopeQ33687043
Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblastsQ34072629
"Laminopathies": a wide spectrum of human diseasesQ34242119
miR-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelinationQ34956268
A Japanese family with probably autosomal dominant adult-onset leukodystrophyQ36837147
Leukodystrophies: classification, diagnosis, and treatmentQ37630270
Intranuclear membrane structure formations by CaaX-containing nuclear proteins.Q40491256
The lamin CxxM motif promotes nuclear membrane growthQ40491270
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.Q42609227
MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.Q48586287
A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophyQ48831846
MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptomsQ48870166
Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.Q50523976
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutationsQ58328211
Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31Q73631332
Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23Q79846739
The integrity of a lamin-B1-dependent nucleoskeleton is a fundamental determinant of RNA synthesis in human cellsQ80853734
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptomsQ83172467
P407language of work or nameEnglishQ1860
P304page(s)215
P577publication date2017-07-18
P1433published inFrontiers in Molecular NeuroscienceQ27721913
P1476titleAn LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis
P478volume10

Reverse relations

Q61450666Duplication and deletion upstream of in autosomal dominant adult-onset leukodystrophycites workP2860

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