(Q41109207)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25847462%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25847462%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

main subject

spinal muscular atrophy

1 reference

1 reference

1 reference

15

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4 March 2020

Angela Berardinelli

4

1 reference

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4 March 2020

Gaetano Cantalupo

5

1 reference

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4 March 2020

Enrico Bertini

6

1 reference

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4 March 2020

Adele D'Amico

8

1 reference

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4 March 2020

Emanuela Abiusi

10

1 reference

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4 March 2020

Elena Pasini

12

1 reference

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4 March 2020

Francesca Darra

13

1 reference

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4 March 2020

14

Giuseppe Gobbi

1 reference

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4 March 2020

author name string

Guido Rubboli

1

1 reference

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4 March 2020

Pierangelo Veggiotti

2

1 reference

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4 March 2020

Antonella Pini

3

1 reference

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4 March 2020

Francesco Danilo Tiziano

7

1 reference

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4 March 2020

Elena Piazza

9

1 reference

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4 March 2020

Stefania Fiori

11

1 reference

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4 March 2020

publication date

3 April 2015

1 reference

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4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25847462%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

56

1 reference

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4 March 2020

issue

5

1 reference

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4 March 2020

page(s)

692-698

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25847462%20AND%20SRC:MED&resulttype=core&format=json

Hereditary myoclonus and progressive distal muscular atrophy

4 March 2020

cites work

1 reference

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

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 associated with progressive myoclonic epilepsy is caused by mutations in ASAH1

21 January 2018

1 reference

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

21 January 2018

1 reference

Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.

21 January 2018

1 reference

Lafora disease (author's transl)

21 January 2018

1 reference

Photic reflex myoclonus: a neurophysiological study in progressive myoclonus epilepsies.

21 January 2018

1 reference

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.

21 January 2018

1 reference

Cortical tremor (FCMTE: familial cortical myoclonic tremor with epilepsy).

21 January 2018

1 reference

Bone marrow transplantation for infantile ceramidase deficiency (Farber disease).

21 January 2018

1 reference

Autologous transplantation of lentivector/acid ceramidase-transduced hematopoietic cells in nonhuman primates

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/EPI.12977

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25847462%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference