Mcleod Neuroacanthocytosis Syndrome Latest Advances

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.

Journal: American journal of hematology

Published: June 20, 2025

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.

Journal: Neuropathology and applied neurobiology

Published: March 26, 2025

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.

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.

Journal: Parkinsonism & related disorders

Published: February 07, 2025

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

Journal: Pediatric transplantation

Published: February 01, 2025

Contiguous Xp21 deletion involving Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome results in rapidly progressive and fatal cardiomyopathy.

Journal: Cardiology in the young

Published: January 03, 2025

Early diagnosis of chronic granulomatous disease and McLeod syndrome via the use of a next generation sequencing.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: December 16, 2024

Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients.

Journal: Frontiers in physiology

Published: December 11, 2024

Diagnosis and Treatment of Inherited Renal Tubular Dysgenesis Caused by ACE Gene Mutation: A Single-Center Experience.

Journal: Fetal diagnosis and therapy

Published: December 04, 2024

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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.

Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome.

Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome.

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.

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

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

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

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

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.

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.

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.

Contiguous Xp21 deletion involving Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome results in rapidly progressive and fatal cardiomyopathy.

Contiguous Xp21 deletion involving Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome results in rapidly progressive and fatal cardiomyopathy.

Early diagnosis of chronic granulomatous disease and McLeod syndrome via the use of a next generation sequencing.

Early diagnosis of chronic granulomatous disease and McLeod syndrome via the use of a next generation sequencing.

Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients.

Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients.

Diagnosis and Treatment of Inherited Renal Tubular Dysgenesis Caused by ACE Gene Mutation: A Single-Center Experience.

Diagnosis and Treatment of Inherited Renal Tubular Dysgenesis Caused by ACE Gene Mutation: A Single-Center Experience.