A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

N.A.M.E. van der Beek; I Nelson; R Froissart; T Levade; V Garcia; E Lacene; A Boland; C Masson; NB Romero; T Stojkovic; G Bonne; A Behin

doi:10.1038/s41431-018-0250-z

A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

N.A.M.E. van der Beek, I Nelson, R Froissart, T Levade, V Garcia, E Lacene, A Boland, C Masson, NB Romero, T Stojkovic, G Bonne, A Behin

Neurology

Research output: Contribution to journal › Article › Academic › peer-review

8 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	337-339
Number of pages	3
Journal	European Journal of Human Genetics
Volume	27
Issue number	3
DOIs	https://doi.org/10.1038/s41431-018-0250-z
Publication status	Published - 2019

Research programs

EMC OR-01

Access to Document

10.1038/s41431-018-0250-z

http://hdl.handle.net/1765/110991

Cite this

@article{af74d3dff08c45c89632dce15efa6523,

title = "A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1",

author = "{van der Beek}, N.A.M.E. and I Nelson and R Froissart and T Levade and V Garcia and E Lacene and A Boland and C Masson and NB Romero and T Stojkovic and G Bonne and A Behin",

year = "2019",

doi = "10.1038/s41431-018-0250-z",

language = "Undefined/Unknown",

volume = "27",

pages = "337--339",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "3",

}

TY - JOUR

T1 - A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

AU - van der Beek, N.A.M.E.

AU - Nelson, I

AU - Froissart, R

AU - Levade, T

AU - Garcia, V

AU - Lacene, E

AU - Boland, A

AU - Masson, C

AU - Romero, NB

AU - Stojkovic, T

AU - Bonne, G

AU - Behin, A

PY - 2019

Y1 - 2019

U2 - 10.1038/s41431-018-0250-z

DO - 10.1038/s41431-018-0250-z

M3 - Article

C2 - 30291339

SN - 1018-4813

VL - 27

SP - 337

EP - 339

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 3

ER -