TY  - JOUR
AU  - Leno-Durán, Ester
AU  - Arrabal, Luisa
AU  - Roldán, Susana
AU  - Medina-Cáliz, Inmaculada
AU  - Alcántara-Domínguez, Clara
AU  - García-Cabrera, Victor
AU  - Saiz, Jorge
AU  - Barbas, Coral
AU  - Sanchez-Perez, Maria-Jose
AU  - Entrala-Bernal, Carmen
AU  - Fernández-Rosado, Francisco
AU  - Lorente, Jose Antonio
AU  - Gutierrez-Ríos, Purificacion
AU  - Martínez-Gonzalez, Luis Javier
PY  - 2024
DO  - 10.3390/ijms25179754
UR  - https://hdl.handle.net/10668/24312
T2  - Molecular Diversity Preservation International
AB  - This study aimed to elucidate the genetic causes underlying the juvenile parkinsonism (JP) diagnosed in a girl with several family members diagnosed with spinocerebellar ataxia type 2 (SCA2). To achieve this, whole-exome sequencing, analysis of CAG...
LA  - en
PB  - MDPI
KW  - Juvenile Parkinsonism
KW  - SYNJ1
KW  - Metabolism
KW  - Multiomics
KW  - Mutation screening
KW  - Whole-exome sequencing
KW  - Parkinsonian Disorders
KW  - Nerve Tissue Proteins
KW  - Multiomics
TI  - Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach.
TY  - research article
VL  - 25
ER  -