(Q48666400)

14 February 2018

title

Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion (English)

1 reference

https://api.crossref.org/works/10.1002/ANA.410300316

7 November 2022

1 reference

spinal muscular atrophy

1 reference

1 reference

chromosomal deletion syndrome

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1719916

7 November 2022

1 reference

https://api.crossref.org/works/10.1002/ANA.410300316

7 November 2022

author name string

McDonald-McGinn DM

5

1 reference

14 February 2018

B. J. Weiss

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1719916

7 November 2022

J. Kamholz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1719916

7 November 2022

A. Ritter

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1719916

7 November 2022

E. H. Zackai

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1719916

7 November 2022

D. M. McDonald-McGinn

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1719916

7 November 2022

B. Emanuel

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1719916

7 November 2022

K. H. Fischbeck

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1719916

7 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1719916

7 November 2022

publication date

1 September 1991

1 reference

14 February 2018

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.410300316

1 reference

https://api.crossref.org/works/10.1002/ANA.410300316

https://onlinelibrary.wiley.com/doi/full/10.1002/ana.410300316

7 November 2022

1 reference

https://api.crossref.org/works/10.1002/ANA.410300316

7 November 2022

1 reference

14 February 2018

volume

30

1 reference

14 February 2018

issue

3

1 reference

14 February 2018

page(s)

419-423

1 reference

14 February 2018

cites work

Pathology and Biology

1

12

579

De Grouchy

1964

1 reference

https://api.crossref.org/works/10.1002/ANA.410300316

Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]

7 November 2022

2

1 reference

https://api.crossref.org/works/10.1002/ANA.410300316

Neurologic manifestations in 18q- syndrome

7 November 2022

4

1 reference

https://api.crossref.org/works/10.1002/ANA.410300316

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

7 November 2022

6

1 reference

https://api.crossref.org/works/10.1002/ANA.410300316

Non familial juvenile distal spinal muscular atrophy of upper extremity

7 November 2022

7

1 reference

https://api.crossref.org/works/10.1002/ANA.410300316

Hereditary motor peripheral neuropathy predominantly affecting the arms

7 November 2022

8

1 reference

https://api.crossref.org/works/10.1002/ANA.410300316

Chronic segmental spinal muscular atrophy of upper extremities in identical twins

7 November 2022

9

1 reference

https://api.crossref.org/works/10.1002/ANA.410300316

Characterization of cloned cDNA representing rat myelin basic protein: Absence of expression in brain of shiverer mutant mice

7 November 2022

10

1 reference

https://api.crossref.org/works/10.1002/ANA.410300316

Report of the committee on the genetic constitution of chromosomes 18 and 19.

7 November 2022

13

1 reference

https://api.crossref.org/works/10.1002/ANA.410300316

7 November 2022

Identifiers

1 reference

14 February 2018

1 reference

14 February 2018