(Q77763573)

English

Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15

scientific article published on 01 November 1998

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15 (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

spinal muscular atrophy

1 reference

based on heuristic

inferred from title

muscular atrophy

1 reference

based on heuristic

inferred from title

Charcot-Marie-Tooth disease type 2D

1 reference

based on heuristic

inferred from title

Distal hereditary motor neuropathies

1 reference

based on heuristic

inferred from title

author name string

N Sambuughin

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

K Sivakumar

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

B Selenge

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

H S Lee

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

D Friedlich

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

D Baasanjav

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

M C Dalakas

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

L G Goldfarb

8

1 reference

Europe PubMed Central

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8 December 2019

publication date

1 November 1998

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8 December 2019

number of pages

6

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based on heuristic

inferred from page(s)

Journal of the Neurological Sciences

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

161

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

23-28

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

Integrating parallelization strategies for linkage analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

A YAC contig spanning the dominant retinitis pigmentosa locus (RP9) on chromosome 7p.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

Localization of the aquaporin 1 (AQP1) gene within a YAC contig containing the polymorphic markers D7S632 and D7S526

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

Physical mapping of the HOXA1 gene and the hnRPA2B1 gene in a YAC contig from human chromosome 7p14-p15.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

Avoiding recomputation in linkage analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900264-0

7 January 2021

Identifiers

10.1016/S0022-510X(98)00264-0

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879677%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

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