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A novel phenotype of AChR-deficiency syndrome with predomin..:
Rodríguez Cruz, Pedro M
;
Ravenscroft, Gianina
;
Natera, Daniel
...
Neuromuscular Disorders. 33 (2023) 2 - p. 161-168 , 2023
Link:
https://doi.org/10.1016/j.nmd.2022.12.011
RT Journal T1
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.nmd.2022.12.011&Exemplar=1&LAN=DE A1 Rodríguez Cruz, Pedro M A1 Ravenscroft, Gianina A1 Natera, Daniel A1 Carr, Aisling A1 Manzur, Adnan A1 Liu, Wei Wei A1 Vella, Norbert R A1 Jericó, Ivonne A1 Gonzalez-Quereda, Lidia A1 Gallano, Pia A1 Montalto, Simon Attard A1 Davis, Mark R A1 Lamont, Phillipa J A1 Laing, Nigel G A1 Bourque, Pierre A1 Nascimento, Andres A1 Muntoni, Francesco A1 Polavarapu, Kiran A1 Lochmüller, Hanns A1 Palace, Jacqueline A1 Beeson, David PB Elsevier BV YR 2023 SN 0960-8966 JF Neuromuscular Disorders VO 33 IS 2 SP 161 OP 168 LK http://dx.doi.org/https://doi.org/10.1016/j.nmd.2022.12.011 DO https://doi.org/10.1016/j.nmd.2022.12.011 SF ELIB - SuUB Bremen
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