A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations (Q58328211)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19961535%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

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

1 reference

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13 February 2020

4

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13 February 2020

Marco Seri

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19961535%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Gianni Boris Bradač

10

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13 February 2020

Alfredo Brusco

15

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13 February 2020

author name string

A Brussino

1

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13 February 2020

G Vaula

2

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13 February 2020

C Cagnoli

3

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13 February 2020

E Di Gregorio

6

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13 February 2020

S Scappaticci

7

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S Camanini

8

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13 February 2020

D Daniele

9

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13 February 2020

L Pinessi

11

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13 February 2020

S Cavalieri

12

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13 February 2020

E Grosso

13

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N Migone

14

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publication date

4 December 2009

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European Journal of Neurology

13 February 2020

published in

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volume

17

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issue

4

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page(s)

541-549

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Leukodystrophies: clinical and genetic aspects

13 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02844.X

Lamin B1 duplications cause autosomal dominant leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02844.X

A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02844.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02844.X

Dominantly inherited leukodystrophy showing cerebellar deficits and spastic paraparesis: a new entity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02844.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02844.X

Extensive cerebral white matter abnormality without clinical symptoms: a new hereditary condition?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02844.X

A new familial adult-onset leukodystrophy manifesting as cerebellar ataxia and dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02844.X

Autosomal dominant childhood onset slowly progressive leukodystrophy--a Japanese family with spastic paraparesis, ataxia, mental deterioration, and skeletal abnormality

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02844.X

MRI and CT in an autosomal-dominant, adult-onset leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02844.X

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02844.X

Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02844.X

MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02844.X

10.1111/J.1468-1331.2009.02844.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19961535%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

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