C

D

CASSANDRINI , D

Last name: CASSANDRINI

First name: D

2015 (v1)

Publication

Metadata-only

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

Biancheri, R Lamantea, E Severino, M

Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a novel mitochondrial disease caused by mutations in EARS2, which encodes the mitochondrial glutamyl-tRNA synthetase (mtGluRS). A distinctive brain MRI pattern is the hallmark of the disease. A 6-year-old boy presented at 3 months with feeding difficulties...

Uploaded on: April 14, 2023
2004 (v1)

Publication

Metadata-only

Clinical and molecular findings in patients with giant axonal neuropathy (GAN)

Bruno, C1 Bertini, E Federico, A

No description

Uploaded on: October 11, 2023
2014 (v1)

Publication

Metadata-only

Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.

ASSERETO, STEFANIA BRIGATI, GIORGIA MINETTI, CARLO

No description

Uploaded on: April 14, 2023