Alessandro Vaisfeld

Bologna, Italy

Last Updated: 09/26/2026

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Found 25 publications

Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy.

Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: May 27, 2026

IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy Perspectives.

IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy Perspectives.

Journal: Biomolecules
Published: April 01, 2026

Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance.

Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance.

Journal: Diagnostics (Basel, Switzerland)
Published: March 01, 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG
Published: January 13, 2026

Clinical and radiological stabilization following vutrisiran treatment in transthyretin leptomeningeal amyloidosis: a case report.

Clinical and radiological stabilization following vutrisiran treatment in transthyretin leptomeningeal amyloidosis: a case report.

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
Published: October 29, 2025

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review.

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review.

Journal: Frontiers in genetics
Published: March 06, 2025

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

Journal: Clinical genetics
Published: November 18, 2024

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.

Journal: Clinical genetics
Published: November 11, 2024

Sex-Specific HLA Alleles Contribute to the Modulation of COVID-19 Severity.

Sex-Specific HLA Alleles Contribute to the Modulation of COVID-19 Severity.

Journal: International journal of molecular sciences
Published: September 26, 2024

Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?

Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?

Journal: European journal of pediatrics
Published: January 17, 2024

Simpson-Golabi-Behmel syndrome.

Simpson-Golabi-Behmel syndrome.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: January 04, 2024

Two more families supporting the existence of monogenic spinocerebellar ataxia 48.

Two more families supporting the existence of monogenic spinocerebellar ataxia 48.

Journal: Neurogenetics
Published: December 10, 2023
Showing 1-12 of 25

Last Updated: 09/26/2026