(Q45292907)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Filippo Maria Santorelli

object named as

Filippo M Santorelli

8

1 reference

ORCID Public Data File 2021

author name string

Valentina Scarano

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Pietro Mancini

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Chiara Criscuolo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Giuseppe De Michele

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Carlo Rinaldi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Tecla Tucci

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Alessandra Tessa

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Anna Perretti

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Alessandro Filla

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

publication date

8 March 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

252

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

page(s)

901-903

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15742100%20AND%20SRC:MED&resulttype=core&format=json

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation

9 January 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-005-0768-1

SPG3A: An additional family carrying a new atlastin mutation

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-005-0768-1

Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia

21 January 2018

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

1 reference

12 December 2020

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus

1 reference

12 December 2020

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

1 reference

12 December 2020

Cellular Localization, Oligomerization, and Membrane Association of the Hereditary Spastic Paraplegia 3A (SPG3A) Protein Atlastin

1 reference

12 December 2020

Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration.

1 reference

12 December 2020

The dynamin family of mechanoenzymes: pinching in new places

1 reference

12 December 2020

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

1 reference

12 December 2020