Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1. (Q41109207)

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4 March 2020

title

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

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4 March 2020

main subject

spinal muscular atrophy

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15

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4 March 2020

Angela Berardinelli

4

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4 March 2020

Gaetano Cantalupo

5

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4 March 2020

Enrico Bertini

6

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4 March 2020

Adele D'Amico

8

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Emanuela Abiusi

10

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Elena Pasini

12

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Francesca Darra

13

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14

Giuseppe Gobbi

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author name string

Guido Rubboli

1

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4 March 2020

Pierangelo Veggiotti

2

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Antonella Pini

3

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4 March 2020

Francesco Danilo Tiziano

7

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Elena Piazza

9

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Stefania Fiori

11

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publication date

3 April 2015

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4 March 2020

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volume

56

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issue

5

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page(s)

692-698

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Hereditary myoclonus and progressive distal muscular atrophy

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cites work

1 reference

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

21 January 2018

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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

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4 March 2020

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