(Q95441508)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22290197%20AND%20SRC:MED&resulttype=core&format=json

25 May 2020

title

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22290197%20AND%20SRC:MED&resulttype=core&format=json

hereditary spastic paraplegia

25 May 2020

main subject

1 reference

hereditary spastic paraplegia 47

inferred from title

1 reference

inferred from title

author

Esther Leshinsky-Silver

2

object named as

Esther Leshinsky-Silver

1 reference

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25 May 2020

7

Dorit Lev

1 reference

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25 May 2020

author name string

Peter Bauer

1

1 reference

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25 May 2020

Lubov Blumkin

3

1 reference

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25 May 2020

Nina Schlipf

4

1 reference

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25 May 2020

Christopher Schröder

5

1 reference

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25 May 2020

Julia Schicks

6

1 reference

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25 May 2020

Olaf Riess

8

1 reference

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25 May 2020

Tally Lerman-Sagie

9

1 reference

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25 May 2020

Ludger Schöls

10

1 reference

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25 May 2020

publication date

1 February 2012

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25 May 2020

1 reference

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25 May 2020

volume

13

1 reference

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25 May 2020

issue

1

1 reference

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25 May 2020

page(s)

73-76

1 reference

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Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

25 May 2020

cites work

1 reference

12 December 2020

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

1 reference

12 December 2020

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

1 reference

12 December 2020

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

1 reference

12 December 2020

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

1 reference

12 December 2020

The Sequence Alignment/Map format and SAMtools

1 reference

12 December 2020

Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads

1 reference

12 December 2020

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

1 reference

12 December 2020

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

12 December 2020

10.1007/S10048-012-0314-0

Identifiers

DOI

1 reference

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25 May 2020

1 reference