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

G Rubboli; P Veggiotti; A Pini; A Berardinelli; G Cantalupo; E Bertini; Francesco Danilo Tiziano; A D'Amico; E Piazza; Emanuela Abiusi; S Fiori; E Pasini; F Darra; G Gobbi; R. Michelucci

doi:10.1111/epi.12977

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

G Rubboli^*, P Veggiotti, A Pini, A Berardinelli, G Cantalupo, E Bertini, Francesco Danilo Tiziano, A D'Amico, E Piazza, Emanuela Abiusi, S Fiori, E Pasini, F Darra, G Gobbi, R. Michelucci

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo

21 Citazioni (Scopus)

Abstract

To present the clinical features and the results of laboratory investigations in three patients with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a rare condition caused by mutations in the N-acylsphingosine amidohydrosilase 1 (ASAH1) gene.

Lingua originale	Inglese
pagine (da-a)	1-7
Numero di pagine	7
Rivista	Epilepsia
Numero di pubblicazione	N/A
DOI	https://doi.org/10.1111/epi.12977
Stato di pubblicazione	Pubblicato - 2015

All Science Journal Classification (ASJC) codes

Neurologia
Neurologia (clinica)

Keywords

ASAH1 mutations
Myoclonus
Polygraphy
Progressive myoclonus epilepsy
Spinal muscular atrophy

Accesso al documento

10.1111/epi.12977

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Rubboli, G., Veggiotti, P., Pini, A., Berardinelli, A., Cantalupo, G., Bertini, E., Tiziano, F. D., D'Amico, A., Piazza, E., Abiusi, E., Fiori, S., Pasini, E., Darra, F., Gobbi, G., & Michelucci, R. (2015). Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1. Epilepsia, (N/A), 1-7. https://doi.org/10.1111/epi.12977

@article{44401e8579a74afeb21a4788cce6e063,

title = "Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1",

abstract = "To present the clinical features and the results of laboratory investigations in three patients with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a rare condition caused by mutations in the N-acylsphingosine amidohydrosilase 1 (ASAH1) gene.",

keywords = "ASAH1 mutations, Myoclonus, Polygraphy, Progressive myoclonus epilepsy, Spinal muscular atrophy, ASAH1 mutations, Myoclonus, Polygraphy, Progressive myoclonus epilepsy, Spinal muscular atrophy",

author = "G Rubboli and P Veggiotti and A Pini and A Berardinelli and G Cantalupo and E Bertini and Tiziano, \{Francesco Danilo\} and A D'Amico and E Piazza and Emanuela Abiusi and S Fiori and E Pasini and F Darra and G Gobbi and R. Michelucci",

year = "2015",

doi = "10.1111/epi.12977",

language = "English",

pages = "1--7",

journal = "Epilepsia",

issn = "0013-9580",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "N/A",

}

Rubboli, G, Veggiotti, P, Pini, A, Berardinelli, A, Cantalupo, G, Bertini, E, Tiziano, FD, D'Amico, A, Piazza, E, Abiusi, E, Fiori, S, Pasini, E, Darra, F, Gobbi, G & Michelucci, R 2015, 'Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1', Epilepsia, n. N/A, pagg. 1-7. https://doi.org/10.1111/epi.12977

TY - JOUR

T1 - Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1

AU - Rubboli, G

AU - Veggiotti, P

AU - Pini, A

AU - Berardinelli, A

AU - Cantalupo, G

AU - Bertini, E

AU - Tiziano, Francesco Danilo

AU - D'Amico, A

AU - Piazza, E

AU - Abiusi, Emanuela

AU - Fiori, S

AU - Pasini, E

AU - Darra, F

AU - Gobbi, G

AU - Michelucci, R.

PY - 2015

Y1 - 2015

N2 - To present the clinical features and the results of laboratory investigations in three patients with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a rare condition caused by mutations in the N-acylsphingosine amidohydrosilase 1 (ASAH1) gene.

AB - To present the clinical features and the results of laboratory investigations in three patients with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a rare condition caused by mutations in the N-acylsphingosine amidohydrosilase 1 (ASAH1) gene.

KW - ASAH1 mutations

KW - Myoclonus

KW - Polygraphy

KW - Progressive myoclonus epilepsy

KW - Spinal muscular atrophy

KW - ASAH1 mutations

KW - Myoclonus

KW - Polygraphy

KW - Progressive myoclonus epilepsy

KW - Spinal muscular atrophy

UR - https://publicatt.unicatt.it/handle/10807/66039

UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=84929508612&origin=inward

UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84929508612&origin=inward

U2 - 10.1111/epi.12977

DO - 10.1111/epi.12977

M3 - Article

SN - 0013-9580

SP - 1

EP - 7

JO - Epilepsia

JF - Epilepsia

IS - N/A

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

Keywords

Accesso al documento

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