Duplication and deletion upstream of in autosomal dominant adult-onset leukodystrophy (Q61450666)

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21 April 2020

title

Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy (English)

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21 April 2020

1

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21 April 2020

Takeshi Miura

2

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21 April 2020

Kensaku Kasuga

14

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21 April 2020

Osamu Onodera

18

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21 April 2020

author name string

Kotaro Ogaki

3

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21 April 2020

Makoto Eriguchi

4

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21 April 2020

Yuri Mizuno

5

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21 April 2020

Kenichi Komatsu

6

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21 April 2020

Hiroki Yamazaki

7

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21 April 2020

Natsuki Suetsugi

8

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21 April 2020

Sumihiro Kawajiri

9

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21 April 2020

Ryo Yamasaki

10

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21 April 2020

Takanobu Ishiguro

11

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21 April 2020

Takuya Konno

12

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21 April 2020

Hiroaki Nozaki

13

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21 April 2020

Yasuyuki Okuma

15

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21 April 2020

Jun-Ichi Kira

16

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21 April 2020

Hideo Hara

17

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21 April 2020

Takeshi Ikeuchi

19

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21 April 2020

language of work or name

English

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publication date

7 December 2018

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21 April 2020

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21 April 2020

volume

4

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issue

6

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21 April 2020

page(s)

e292

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Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis

21 April 2020

cites work

1 reference

12 December 2020

Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis

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12 December 2020

A Japanese family with probably autosomal dominant adult-onset leukodystrophy

1 reference

12 December 2020

Autosomal dominant late-onset leukoencephalopathy. Clinical report of a new Italian family.

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12 December 2020

MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.

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12 December 2020

Vanishing white matter disease

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12 December 2020

Lamin B1 duplications cause autosomal dominant leukodystrophy

1 reference

12 December 2020

The integrity of a lamin-B1-dependent nucleoskeleton is a fundamental determinant of RNA synthesis in human cells

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12 December 2020

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.

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12 December 2020

1 reference

12 December 2020

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations

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12 December 2020

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

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12 December 2020

Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication

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12 December 2020

Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy

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12 December 2020

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression

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12 December 2020

Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model

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12 December 2020

Teaching NeuroImages: Autosomal dominant leukodystrophy in a sporadic case.

1 reference

12 December 2020

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

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12 December 2020

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12 December 2020

Characteristic features and progression of abnormalities on MRI for CARASIL.

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12 December 2020

Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression

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12 December 2020

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

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12 December 2020

Autosomal dominant leukodystrophy presenting as Alzheimer's-type dementia.

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12 December 2020

10.1212/NXG.0000000000000292

Identifiers

DOI

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21 April 2020

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21 April 2020

PubMed publication ID

30697589

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