(Q62554882)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10797436%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin (English)

0 references

Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10797436%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

7

M. Zatz

0 references

Mariz Vainzof

2

1 reference

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6 November 2019

Suely K Marie

5

1 reference

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6 November 2019

author name string

P. Rocco

1

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M. Vainzof

2

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S.C. Froehner

3

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M.F. Peters

4

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S.K.N. Marie

5

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M.R. Passos-Bueno

6

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P Rocco

1

1 reference

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6 November 2019

S C Froehner

3

1 reference

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6 November 2019

M F Peters

4

1 reference

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6 November 2019

M R Passos-Bueno

6

1 reference

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6 November 2019

M Zatz

7

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6 November 2019

publication date

15 May 2000

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1 May 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10797436%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

6 November 2019

published in

1 reference

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6 November 2019

volume

92

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6 November 2019

issue

2

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6 November 2019

page(s)

122-127

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The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives

6 November 2019

cites work

1 reference

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A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

21 January 2018

1 reference

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Developmental trends of sleep-disordered breathing in Prader-Willi syndrome: the role of obesity

21 January 2018

1 reference

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Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C122%3A%3AAID-AJMG8%3E3.0.CO%3B2-B

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

21 January 2018

1 reference

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A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia

21 January 2018

1 reference

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Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q

21 January 2018

1 reference

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Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q.

21 January 2018

1 reference

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Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.

21 January 2018

1 reference

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Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

21 January 2018

1 reference

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X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

21 January 2018

1 reference

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"Pure" hereditary spastic paraplegias: the story becomes complicated

21 January 2018

1 reference

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

21 January 2018

1 reference

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Differential association of syntrophin pairs with the dystrophin complex

21 January 2018

1 reference

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Pure hereditary spastic paraplegia.

21 January 2018

1 reference

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Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity

21 January 2018

1 reference

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A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C122%3A%3AAID-AJMG8%3E3.0.CO%3B2-B

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000515%2992%3A2%3C122%3A%3AAID-AJMG8%3E3.0.CO%3B2-B

10.1002/(SICI)1096-8628(20000515)92:2<122::AID-AJMG8>3.0.CO;2-B

21 January 2018

Identifiers

DOI

1 reference

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6 November 2019

1 reference