(Q34634459)

3 August 2017

A new genetic variant of the spinal muscular atrophies in infancy (English)

1 reference

3 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646546

16 February 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.9.4.401

16 February 2023

1 reference

H. Zellweger

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646546

16 February 2023

E. Hanhart

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646546

16 February 2023

H. J. Schneider

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646546

16 February 2023

language of work or name

English

0 references

publication date

1 December 1972

1 reference

full work available at URL

3 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/4646546/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646546

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/4646546/?tool=EBI

16 February 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646546

https://europepmc.org/articles/PMC1469055

16 February 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646546

https://europepmc.org/articles/PMC1469055?pdf=render

16 February 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646546

Journal of Medical Genetics

16 February 2023

published in

1 reference

3 August 2017

9

1 reference

3 August 2017

4

1 reference

3 August 2017

401-407

1 reference

Heredofamilial juvenile muscular atrophy simulating muscular dystrophy.

3 August 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469055

An Unusual Inheritance Pattern for Spinal Muscular Atrophy

7 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469055

Heritable spinal muscular atrophies

7 July 2018

1 reference

12 December 2020

A new genetic variant of spinal muscular atrophy

1 reference

12 December 2020

The genetic heterogeneity of spinal muscular atrophy (SMA)

1 reference

12 December 2020

Late manifestations with protracted course in Werdnig-Hoffmann's spinal muscular atrophy (with familial aspects)

1 reference

12 December 2020

[Forty cases of Werdnig-Hoffmann disease with eleven anatomical examinations]

1 reference

12 December 2020

Hereditary proximal spinal muscular atrophy, a clinical entity simulating progressive muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.9.4.401

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=4646546

16 February 2023

1 reference

3 August 2017

1 reference