Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation

Autor: Cristian R. Calandra, German Biagioli, Federico A. Olivieri, María Inés Pérez Millán, Sebastián Alexis Vishnopolska, Marcelo A. Martí, Guadalupe Buda, Luis A. Miquelini, Jaen Natalia Oliveri, Alejandro Pellene

Publikováno v: Parkinsonism & Related Disorders. 73:52-54

The eye-of-the-tiger (EOT) is a neuroradiologic sign observed on T2-weighted sequences that refers to a central high signal intensity in the anteromedial aspect of both globus pallidus (GP) and a surrounding low signal intensity due to excess iron de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2ccdbc4cd1da86d0f0eee22b45029fa
https://doi.org/10.1016/j.parkreldis.2020.03.020

Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report

Autor: Marcelo A. Martí, Jacinta Bustamante, Vanesa Lotersztein, German Biagioli, Dusan Bogunovic, Guadalupe Buda, Federico A. Olivieri, Carolina Bouso, Nicolás Affranchino, Rita María Valdez

Publikováno v: Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
Allergy, Asthma & Clinical Immunology, Vol 16, Iss 1, Pp 1-6 (2020)

Interferon-stimulated gene 15 (ISG15) was the first ubiquitin-like modifier protein identified that acts by protein conjugation (ISGylation) and is thought to modulate IFN-induced inflammation. Here, we report a new patient from a non-consanguineous

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bc00095c4232bbe8498158668a4d7a9
https://doi.org/10.1186/s13223-020-00473-7