TY  - JOUR
AU  - Arias, M
AU  - Mir, P
AU  - Fernández-Matarrubia, M
AU  - Arpa, J
AU  - García-Ramos, R
AU  - Blanco-Arias, P
AU  - Quintans, B
AU  - Sobrido, M J
PY  - 2019
DO  - 10.1016/j.nrl.2019.01.004
UR  - http://hdl.handle.net/10668/22438
T2  - Neurologia
AB  - Autosomal recessive spinocerebellar ataxia type 8 (ARCA1/SCAR8) is caused by mutations of the SYNE1 gene. The disease was initially described in families from Quebec (Canada) with a phenotype of pure cerebellar syndrome, but in recent years has been...
LA  - en
KW  - ARCA1
KW  - Ataxia
KW  - Autosomal recessive inheritance
KW  - Gene panel
KW  - Herencia autosómica recesiva
KW  - Panel de genes
KW  - SCAR8
KW  - SYNE1
KW  - Secuenciación
KW  - Sequencing
TI  - Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain.
T2  - Heredoataxia cerebelosa recesiva ARCA1/SCAR8: primeras familias detectadas en España.
TY  - research article
ER  -