(Q44413471)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24164096%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24164096%20AND%20SRC:MED&resulttype=core&format=json

spinal muscular atrophy with progressive myoclonic epilepsy

28 February 2020

main subject

0 references

spinal muscular atrophy

1 reference

1 reference

Jeremy Schwartzentruber

11

1 reference

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28 February 2020

Frédérique Sabourdy

9

1 reference

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28 February 2020

Hugh J. McMillan

12

1 reference

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28 February 2020

13

FORGE Canada Consortium

1 reference

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28 February 2020

author name string

D A Dyment

1

1 reference

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28 February 2020

E Sell

2

1 reference

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28 February 2020

M R Vanstone

3

1 reference

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28 February 2020

A C Smith

4

1 reference

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28 February 2020

D Garandeau

5

1 reference

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28 February 2020

V Garcia

6

1 reference

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28 February 2020

S Carpentier

7

1 reference

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28 February 2020

E Le Trionnaire

8

1 reference

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28 February 2020

C L Beaulieu

10

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28 February 2020

J Majewski

14

1 reference

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28 February 2020

D E Bulman

15

1 reference

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28 February 2020

T Levade

16

1 reference

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28 February 2020

K M Boycott

17

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28 February 2020

publication date

21 November 2013

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28 February 2020

1 reference

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28 February 2020

volume

86

1 reference

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28 February 2020

issue

6

1 reference

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28 February 2020

page(s)

558-563

1 reference

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Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1

28 February 2020

cites work

1 reference

Hereditary myoclonus and progressive distal muscular atrophy

21 January 2018

1 reference

Spinal muscular atrophy and progressive myoclonic epilepsy: one case report and characteristics of the epileptic syndrome

21 January 2018

1 reference

Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature

21 January 2018

1 reference

Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease

21 January 2018

1 reference

Acid ceramidase and human disease

21 January 2018

1 reference

Mutations in PIK3R1 cause SHORT syndrome

21 January 2018

1 reference

A simple fluorogenic method for determination of acid ceramidase activity and diagnosis of Farber disease.

21 January 2018

1 reference

Acid ceramidase expression modulates the sensitivity of A375 melanoma cells to dacarbazine

21 January 2018

1 reference

Determination of ceramides and diglycerides by the diglyceride kinase assay

21 January 2018

1 reference

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

Molecular analysis of acid ceramidase deficiency in patients with Farber disease

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12307

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24164096%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference