Alpha-thalassemia in a southern Italian population (detection by a non-radioactive procedure)

A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating Charcot-Marie-Tooth disease.

European journal of neurology·2020

Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia.

Acta neurologica Belgica·2018

Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.

Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale·2016

Simultaneous PET/MR head-neck cancer imaging: Preliminary clinical experience and multiparametric evaluation.

European journal of radiology·2015

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.

Clinical genetics·2014

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.

Journal of the neurological sciences·2014

Evaluation of a Customized RDB-FTH Panel for β-Globin Variants in a Malaysian Tertiary Center.

Hemoglobin·2026

CRISPR-Based Mediated Reactivation of Fetal Hemoglobin as a Therapeutic Strategy for Hemoglobinopathies: Evidence from Preclinical to Clinical Trials in Sickle Cell Disease and β-Thalassemia.

Hemoglobin·2026

Genotype-Specific Hematologic Signatures Across α-Globin Defect Categories in α-Thalassemia.

Hemoglobin·2026

Mapping the Management-to-Cure Transition in Thalassemia Research: Semantic Topic Modeling of 17,651 Publications Across Three Decades.

Hemoglobin·2026

Uncovering the True Genotype: Unusually Severe Sickle Cell Disease in a Child with an Initial HbSC Diagnosis.

Hemoglobin·2026

Ocular Complications Among Patients with Beta-Thalassaemia Major and Intermedia: A Comparative Study from Pakistan.

Hemoglobin·2026

Investigating the DTI-ALPS index and its association with cognitive impairment in Alzheimer's disease: a diffusion tensor imaging study.

Frontiers in neuroscience·2026

Aberrant Left Subclavian Artery Hypoplasia with Right Aortic Arch as a Cause of Inter-arm Blood Pressure Difference and Subclavian Steal in an Asymptomatic Adult.

Internal medicine (Tokyo, Japan)·2026

Functional validation of the Plasmodium falciparum K13 C580Y mutation in recently collected Ethiopian isolates.

Antimicrobial agents and chemotherapy·2026

Expert opinion on Alzheimer's disease diagnostics and management in Central Eastern European countries representing 88 million population.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2026

Evaluating classification approaches for population affinity estimation in a contemporary South African CT-derived sample: an automatic landmarking-based approach.

International journal of legal medicine·2026

Othello syndrome as an early manifestation of Alzheimer's disease: an anatomoclinical case study.

Dementia & neuropsychologia·2026

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Alpha-thalassemia in a southern Italian population (detection by a non-radioactive procedure)

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A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating Charcot-Marie-Tooth disease.

Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia.

Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.

Simultaneous PET/MR head-neck cancer imaging: Preliminary clinical experience and multiparametric evaluation.

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A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.

Evaluation of a Customized RDB-FTH Panel for β-Globin Variants in a Malaysian Tertiary Center.

CRISPR-Based Mediated Reactivation of Fetal Hemoglobin as a Therapeutic Strategy for Hemoglobinopathies: Evidence from Preclinical to Clinical Trials in Sickle Cell Disease and β-Thalassemia.

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Mapping the Management-to-Cure Transition in Thalassemia Research: Semantic Topic Modeling of 17,651 Publications Across Three Decades.

Uncovering the True Genotype: Unusually Severe Sickle Cell Disease in a Child with an Initial HbSC Diagnosis.

Ocular Complications Among Patients with Beta-Thalassaemia Major and Intermedia: A Comparative Study from Pakistan.

Investigating the DTI-ALPS index and its association with cognitive impairment in Alzheimer's disease: a diffusion tensor imaging study.

Aberrant Left Subclavian Artery Hypoplasia with Right Aortic Arch as a Cause of Inter-arm Blood Pressure Difference and Subclavian Steal in an Asymptomatic Adult.

Functional validation of the Plasmodium falciparum K13 C580Y mutation in recently collected Ethiopian isolates.

Expert opinion on Alzheimer's disease diagnostics and management in Central Eastern European countries representing 88 million population.

Evaluating classification approaches for population affinity estimation in a contemporary South African CT-derived sample: an automatic landmarking-based approach.

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Alpha-thalassemia in a southern Italian population (detection by a non-radioactive procedure)

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