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Publications by Vincenzo Nigro

372. Prevalence of Anti-Aav8 Neutralizing Antibodies and ARSB Cross-Reactive Immunologic Material in MPS VI Patients Candidates for a Gene Therapy Trial

Molecular Therapy
Molecular MedicineMolecular BiologyPharmacologyMedicineGeneticsDrug Discovery
2015English

Long Term Follow-Up and Further Molecular and Histopathological Studies in the LGMD1F Sporadic TNPO3-mutated Patient

Acta neuropathologica communications
Forensic MedicineMolecular NeurosciencePathologyNeurologyCellular
2018English

Mutations in the PCYT1A Gene Are Responsible for Isolated Forms of Retinal Dystrophy

European Journal of Human Genetics
Genetics
2017English

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients With Severe Inherited Retinal Dystrophies

Genes
Genetics
2017English

A New Family With Transportinopathy: Increased Clinical Heterogeneity

Therapeutic Advances in Neurological Disorders
NeurologyPharmacology
2019English

Identification of an Intragenic Deletion in the SGCB Gene Through a Re-Evaluation of Negative Next Generation Sequencing Results

Neuromuscular Disorders
Child HealthNeurologyPediatricsPerinatologyGenetics
2016English

A G613A Missense in the Hutchinson’s Progeria Lamin a/C Gene Causes a Lone, Autosomal Dominant Atrioventricular Block

Immunity and Ageing
AgingImmunology
2014English

Cavitating and Tigroid‐like Leukoencephalopathy in a Case of NDUFA2 ‐related Disorder

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2020English

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