(Q51827388)

13 April 2018

title

Propensity for paternal inheritance of de novo mutations in Alexander disease. (English)

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13 April 2018

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Rong Li

1

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13 April 2018

Anne B Johnson

2

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13 April 2018

Gajja S Salomons

3

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13 April 2018

Marjo S van der Knaap

4

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13 April 2018

Diana Rodriguez

5

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13 April 2018

Odile Boespflug-Tanguy

6

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13 April 2018

J Rafael Gorospe

7

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13 April 2018

James E Goldman

8

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13 April 2018

Albee Messing

9

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13 April 2018

Michael Brenner

10

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13 April 2018

publication date

20 December 2005

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13 April 2018

published in

Human Genetics

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13 April 2018

volume

119

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13 April 2018

issue

1-2

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13 April 2018

page(s)

137-144

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13 April 2018

https://scigraph.springernature.com/pub.10.1007/s00439-005-0116-7

exact match

0 references

cites work

Molecular findings in symptomatic and pre-symptomatic Alexander disease patients

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-0116-7

Alexander disease: new insights from genetics

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-0116-7

Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-0116-7

A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation

21 January 2018

1 reference

12 December 2020

GFAP mutations in Alexander disease

1 reference

12 December 2020

Epigenetic programming of differential gene expression in development and evolution

1 reference

12 December 2020

Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease

1 reference

12 December 2020

Rosenthal fibers share epitopes with alpha B-crystallin, glial fibrillary acidic protein, and ubiquitin, but not with vimentin. Immunoelectron microscopy with colloidal gold

1 reference

12 December 2020

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome

1 reference

12 December 2020

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line

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12 December 2020

Strong male-driven evolution of DNA sequences in humans and apes

1 reference

12 December 2020

Alpha B-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain

1 reference

12 December 2020

On-grid immunogold labeling of glial intermediate filaments in epoxy-embedded tissue

1 reference

12 December 2020

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome

1 reference

12 December 2020

DNA methylation in health and disease

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12 December 2020

Sex biases in the mutation rate.

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12 December 2020

Nomenclature for the description of human sequence variations

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12 December 2020

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome

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12 December 2020

Alpha B-crystallin and 27-kd heat shock protein are regulated by stress conditions in the central nervous system and accumulate in Rosenthal fibers

1 reference

12 December 2020

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation

1 reference

12 December 2020

Determination of the gene structure of human GFAP and absence of coding region mutations associated with frontotemporal dementia with parkinsonism linked to chromosome 17.

1 reference

12 December 2020

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

1 reference

12 December 2020

Spontaneous mutation and parental age in humans

1 reference

12 December 2020

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

1 reference

12 December 2020

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

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12 December 2020

Male-driven evolution

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12 December 2020

Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene

1 reference

12 December 2020

Alexander disease: putative mechanisms of an astrocytic encephalopathy

1 reference

12 December 2020

PCR-mediated recombination in amplification products derived from polyploid cotton

1 reference

12 December 2020

The origins, patterns and implications of human spontaneous mutation

1 reference

12 December 2020

Genetic polymorphism and sequence evolution of an alternatively spliced exon of the glial fibrillary acidic protein gene, GFAP.

1 reference

12 December 2020

Unusual variants of Alexander's disease

1 reference

12 December 2020

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

1 reference

12 December 2020

1 reference

12 December 2020

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

1 reference

12 December 2020

10.1007/S00439-005-0116-7

Identifiers

DOI

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13 April 2018

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13 April 2018