Commentary to medical genetics and genomic medicine in Chile: Chilean experience on molecular diagnosis for neurodegenerative disorders

Clinical and Genetic Analysis of a Chilean Family with Early-Onset Autosomal Dominant Alzheimer's Disease

(2017) Mariana Sinning et al.   JOURNAL OF ALZHEIMERS DISEASE

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review

(2015) Claudia Castiglioni et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Diagnóstico de Ataxia Espinocerebelosa tipo 3 (Enfermedad de Machado-Joseph) en Chile

(2015) Marcelo Miranda C.   REVISTA MEDICA DE CHILE

Medical genetics and genomic medicine in Chile: opportunities for improvement

(2015) Silvia Castillo Taucher   Molecular Genetics & Genomic Medicine

Medical Genetics and Genetic Counseling in Chile

(2013) Sonia B. Margarit et al.   Journal of Genetic Counseling

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

(2010) Maria I. Behrens et al.   MOVEMENT DISORDERS