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Last Updated: 01/07/2026

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Found 273 publications

Correction to "Neuropathological Characterisation of McLeod Syndrome With a Proposed New Grading System".

Correction to "Neuropathological Characterisation of McLeod Syndrome With a Proposed New Grading System".

Journal: Neuropathology and applied neurobiology
Published: November 03, 2025

Kell and Kx blood group systems: an update.

Kell and Kx blood group systems: an update.

Journal: Immunohematology
Published: October 31, 2025

A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.

A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.

Journal: International journal of molecular sciences
Published: September 22, 2025

Teaching Video NeuroImage: Involuntary Movements, HyperCKemia, and Increased Acanthocytes: Clinical Clues to McLeod Syndrome.

Teaching Video NeuroImage: Involuntary Movements, HyperCKemia, and Increased Acanthocytes: Clinical Clues to McLeod Syndrome.

Journal: Neurology
Published: August 11, 2025

Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome.

Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome.

Journal: American journal of hematology
Published: June 20, 2025

A novel VPS13A mutation in an Iranian family with Chorea-Acanthocytosis.

A novel VPS13A mutation in an Iranian family with Chorea-Acanthocytosis.

Journal: Neurogenetics
Published: May 02, 2025

McLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene.

McLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene.

Journal: Neuromuscular disorders : NMD
Published: March 28, 2025

Neuropathological Characterisation of McLeod Syndrome With a Proposed New Grading System.

Neuropathological Characterisation of McLeod Syndrome With a Proposed New Grading System.

Journal: Neuropathology and applied neurobiology
Published: March 26, 2025

Phenotypic variability in sisters with VPS13A disease (chorea-acanthocytosis)

Phenotypic variability in sisters with VPS13A disease (chorea-acanthocytosis)

Journal: Ideggyogyaszati szemle
Published: March 05, 2025

Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.

Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.

Journal: Pediatric nephrology (Berlin, Germany)
Published: February 20, 2025

Clinico-genetic profile of case series of six Tamilian chorea-acanthocytosis families with VPS13A mutations from South India.

Clinico-genetic profile of case series of six Tamilian chorea-acanthocytosis families with VPS13A mutations from South India.

Journal: Parkinsonism & related disorders
Published: February 07, 2025

Hematopoietic Cell Transplantation in a Patient With X-Linked Chronic Granulomatous Disease With McLeod Phenotype.

Hematopoietic Cell Transplantation in a Patient With X-Linked Chronic Granulomatous Disease With McLeod Phenotype.

Journal: Pediatric transplantation
Published: February 01, 2025
Showing 1-12 of 273

Last Updated: 01/07/2026