Graziella Uziel

Milan, Italy

Last Updated: 09/26/2026

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Found 27 publications

Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes.

Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes.

Journal: Brain : a journal of neurology

Published: September 01, 2015

A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.

A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.

Journal: JIMD reports

Published: November 20, 2014

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.

Journal: Orphanet journal of rare diseases

Published: November 05, 2014

Brain fluorodeoxyglucose PET in adrenoleukodystrophy.

Brain fluorodeoxyglucose PET in adrenoleukodystrophy.

Journal: Neurology

Published: August 08, 2014

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Journal: American journal of human genetics

Published: May 14, 2014

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.

Journal: Brain : a journal of neurology

Published: February 26, 2014

Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a.

Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a.

Journal: Muscle & nerve

Published: November 13, 2013

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Journal: Journal of neurology

Published: November 13, 2013

Mitochondrial Diseases in Childhood.

Mitochondrial Diseases in Childhood.

Journal: Current molecular medicine

Published: October 19, 2013

Mitochondrial dysfunction in central nervous system white matter disorders.

Mitochondrial dysfunction in central nervous system white matter disorders.

Journal: Glia

Published: August 31, 2013

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.

Journal: Neurogenetics

Published: August 09, 2013

Myoclonus in mitochondrial disorders.

Myoclonus in mitochondrial disorders.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: July 22, 2013

Showing 1-12 of 27

Last Updated: 09/26/2026