(Q80350472)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258781%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised alpha-fetoprotein (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258781%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

main subject

spinocerebellar ataxia

1 reference

inferred from title

peripheral neuropathy

1 reference

Louise Izatt

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258781%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Andrea H Németh

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258781%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Anjela Meesaq

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258781%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Kerry R Mills

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258781%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

A Malcolm R Taylor

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258781%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Christopher E Shaw

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258781%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

publication date

1 July 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258781%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258781%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

volume

251

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258781%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258781%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

page(s)

805-812

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258781%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00415-004-0427-y

30 December 2019

exact match

0 references

cites work

Variant forms of ataxia telangiectasia

1 reference

12 December 2020

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

1 reference

12 December 2020

Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34

1 reference

12 December 2020

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

1 reference

12 December 2020

A high-density microsatellite map of the ataxia-telangiectasia locus

1 reference

12 December 2020

DNA single-strand break repair and spinocerebellar ataxia

1 reference

12 December 2020

Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein

1 reference

12 December 2020

Prenatal exclusion of homocystinuria (cystathionine beta-synthase deficiency) by assay of phytohaemagglutinin-stimulated fetal lymphocytes.

1 reference

12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations

1 reference

12 December 2020

Absence of mutations in ATM , the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia

1 reference

12 December 2020

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

1 reference

12 December 2020

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

1 reference

12 December 2020

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

12 December 2020

Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia

1 reference

12 December 2020

Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.

1 reference

12 December 2020

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

1 reference

12 December 2020

Mutations associated with variant phenotypes in ataxia-telangiectasia

1 reference

12 December 2020