Giuseppe Di Iorio - Publications

Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.

Journal: Genes

Published: December 30, 2020

ATTRv amyloidosis Italian Registry: clinical and epidemiological data.

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: July 23, 2020

Novel autophagic vacuolar myopathies: Phenotype and genotype features.

Journal: Neuropathology and applied neurobiology

Published: May 26, 2020

Early posterior vitreous detachment is associated with LAMA5 dominant mutation.

Journal: Ophthalmic genetics

Published: December 28, 2018

Neuro-Behçet's disease presenting as an isolated progressive cognitive and behavioral syndrome.

Journal: Neurocase

Published: December 26, 2018

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

Journal: Frontiers in neurology

Published: September 24, 2018

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging.

Journal: Radiology case reports

Published: July 18, 2018

One novel GRN null mutation, two different aphasia phenotypes.

Journal: Neurobiology of aging

Published: July 09, 2018

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia.

Journal: Neurobiology of aging

Published: April 30, 2018

Diagnostic contribution of magnetic resonance imaging in an atypical presentation of motor neuron disease.

Journal: Quantitative imaging in medicine and surgery

Published: January 10, 2018

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

Journal: Neuromuscular disorders : NMD

Published: December 04, 2017

Diffuse glioblastoma resembling acute hemorrhagic leukoencephalitis.

Journal: Quantitative imaging in medicine and surgery

Published: November 30, 2017