(Q60974324)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

title

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

author name string

A Simonati

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

A Pasquinelli

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

F Taioli

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

T Cavallaro

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

G Marcon

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

M Papini

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

N Rizzuto

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

G M Fabrizi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

publication date

1 June 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

page(s)

257-261

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

The status of HMSN type III.

9 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900008-5

7 January 2021

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900008-5

7 January 2021

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900008-5

7 January 2021

Peripheral myelin protein 22: facts and hypotheses

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900008-5

7 January 2021

Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900008-5

7 January 2021

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900008-5

7 January 2021

10.1016/S0960-8966(99)00008-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399754%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference