Luis J. Azcona

发表

Molecular characterization of PRKN structural variations identified through whole‐genome sequencing

C. Paisán-Ruiz, H. Darvish, A. Tafakhori, 2018, Molecular genetics & genomic medicine.

Identification of a large homozygous VPS13C deletion in a patient with early‐onset Parkinsonism

C. Paisán-Ruiz, H. Darvish, Sakineh Ranji-Burachaloo, 2018, Movement disorders : official journal of the Movement Disorder Society.

Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

C. Paisán-Ruiz, J. Ruiz‐Martinez, A. Bergareche, 2017, Neurology: Genetics.

Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes

C. Paisán-Ruiz, E. Sánchez, H. Darvish, 2020, Scientific Reports.

PTRHD1 (C2orf79) mutations lead to autosomal‐recessive intellectual disability and parkinsonism

C. Paisán-Ruiz, M. Omrani, M. Garshasbi, 2017, Movement disorders : official journal of the Movement Disorder Society.

A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations

P. Petramfar, C. Paisán-Ruiz, M. Omrani, 2017, Molecular Neurobiology.

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation

A. Goate, Jen C. Wang, C. Paisán-Ruiz, 2018, Neurobiology of Aging.

Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways

C. Paisán-Ruiz, E. Sánchez, Luis J. Azcona, 2018, Molecular Neurobiology.

A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson's Disease.

E. Tolosa, C. Paisán-Ruiz, R. Fernández-Santiago, 2017, Journal of Parkinson's disease.

Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

C. Paisán-Ruiz, H. Darvish, A. Tafakhori, 2017, npj Genomic Medicine.

Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes

C. Paisán-Ruiz, Y. Kajiwara, E. Sánchez, 2020, Scientific Reports.

A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors

C. Paisán-Ruiz, J. Jen, H. Darvish, 2019, Neurology: Genetics.

Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways

C. Paisán-Ruiz, E. Sánchez, Luis J. Azcona, 2018, Molecular Neurobiology.

Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

C. Paisán-Ruiz, H. Darvish, A. Tafakhori, 2017, npj Genomic Medicine.

ANXA1 with Anti‐Inflammatory Properties Might Contribute to Parkinsonism

C. Paisán-Ruiz, H. Darvish, E. Alehabib, 2021, Annals of neurology.

Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

C. Paisán-Ruiz, J. Ruiz‐Martinez, A. Bergareche, 2017, Neurology: Genetics.