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Chiari I malformation in a Waardenburg phenotype with multiple malformations and 1q21.1 microdeletion

Agostino Berio, Gian Luigi Mariottini, Marco Frascio, Enrico Calcagno, Giacomo Garlaschi, Giuseppe Mangiante, Attilia Piazzi

13-01-2021

https://doi.org/10.4081/jbr.2020.9259

918

Downloads: 511
Kearns-Sayre syndrome with optic nerve atrophy phenotype: A possible biological and clinical concurrence of two mutations?

Agostino Berio, Gian Luigi Mariottini, Marco Frascio, Attilia Piazzi

01-03-2022

https://doi.org/10.4081/jbr.2022.10308

1612

Downloads: 456
Gluten sensitivity and neurological manifestations

Agostino Berio, Giuseppe Mangiante, Gian Luigi Mariottini, Attilia Piazzi

17-12-2015

https://doi.org/10.4081/jbr.2015.5405

2264

Downloads: 1147
Oculo-auriculo-vertebral spectrum associated to progressive external ophthalmoplegia. Biological, laboratory, electrophysiological and clinical aspects

Agostino Berio, Giacomo Garlaschi, Gian Luigi Mariottini, Enrico Calcagno, Attilia Piazzi

03-07-2018

https://doi.org/10.4081/jbr.2018.7214

946

Downloads: 549
Chiari I malformation, syringomyelia and papilledema: a malformative complex connected to oculo-auriculo-vertebral spectrum

Agostino Berio, Giacomo Garlaschi, Giuseppe Mangiante, Gian Luigi Mariottini, Attilia Piazzi

08-03-2019

https://doi.org/10.4081/jbr.2019.8001

1226

Downloads: 619

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