S. Bogantes-Ledezma

Neuropatía autonómica sensorial hereditaria (Hereditary sensory and autonomic neuropathy)

Alejandra Acosta-Gualandri, S. Bogantes-Ledezma, 2014 .

The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

A. Ekici, M. Meisterernst, C. Thiel, 2018, neurogenetics.

A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.

A. Ekici, H. Sticht, A. Reis, 2017, JIMD reports.

Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience

J. Weimer, J. Brudvig, A. Sanabria-Castro, 2022, Orphanet Journal of Rare Diseases.

Epidemiology, Etiology and Clinical Aspects of Childhood Acute Encephalitis in a Tertiary Pediatric Hospital in Costa Rica.

A. Yock-Corrales, Cristian Pérez-Corrales, K. Camacho-Badilla, 2020, The Pediatric infectious disease journal.

The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

A. Ekici, M. Meisterernst, C. Thiel, 2018, Neurogenetics.

Freezing of Gait as the Initial Manifestation of Neuronal Ceroid Lipofuscinosis Type 6: a Case Report

A. Gutierrez-mata, S. Bogantes-Ledezma, L. Hernández-Con, 2022, SN Comprehensive Clinical Medicine.

First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica

C. Desnuelle, G. Torrealba-Acosta, S. Bogantes-Ledezma, 2017, Neuromuscular Disorders.