Neuroacanthocytosis

Neuroacanthocytosis is a heterogeneous group of hereditary syndromes characterized by the association of neurological abnormalities with acanthocytosis. Discover the latest research on neuroacanthocytosis here.

March 25, 2020

Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis

European Journal of Case Reports in Internal Medicine
Noel Lorenzo VillalbaAbrar-Ahmad Zulfiqar
July 28, 2020
Open Access

Flavonoids as Potential Drugs for VPS13 -Dependent Rare Neurodegenerative Diseases

Genes
Piotr SoczewkaTeresa Zoladek
July 14, 2020
Open Access

A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome

Journal of Movement Disorders
Myriam Ley MartosLorena Estepa Pedregosa
August 28, 2020

XK is a partner for VPS13A: A molecular link between Chorea-Acanthocytosis and McLeod syndrome

Molecular Biology of the Cell
Jae-Sook Park, Aaron M Neiman
April 2, 2020
Case Report
Open Access

Idiopathic brain calcification in a patient with hereditary hemochromatosis

BMC Neurology
Stefania ScarliniElena Corradini
March 28, 2020
Review

Inter-organelle lipid transfer: a channel model for Vps13 and chorein-N motif proteins

Current Opinion in Cell Biology
Joshua A Lees, Karin M Reinisch
August 26, 2020
Case Report

Dilative cardiomyopathy displaying double trouble etiology: Myocarditis and Mcleod syndrome?

Clinical Neurology and Neurosurgery
Federica MontagneseBenedikt Schoser
July 14, 2020
Open Access

MRI of neurodegeneration with brain iron accumulation

Current Opinion in Neurology
Stéphane LehéricyFanny Mochel
August 8, 2020
Open Access

Citrus CsACD2 is a target of Candidatus Liberibacter asiaticus in Huanglongbing disease

Plant Physiology
Zhiqian PangNian Wang
May 28, 2020
Open Access

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration

International Journal of Molecular Sciences
Paolo SantambrogioSonia Levi
August 28, 2020

Cerebral blood flow in dystonia due to pantothenate kinase-associated neurodegeneration

The Neuroradiology Journal
Peter StoeterPamela Bido
May 23, 2020
Case Report
Open Access

Ejaculatory Duct Obstruction in the Setting of an Ectopic Ureter

Sexual Medicine
Joseph Shawn Smith, William Patrick Springhart
May 15, 2020
Open Access

The binding of the APT1 domains to phosphoinositides is regulated by metal ions in vitro

Biochimica Et Biophysica Acta. Biomembranes
Damian KolakowskiTeresa Zoladek
July 27, 2020
Open Access

PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes

Annals of Clinical and Translational Neurology
Maike WerningUlrich Salzer
May 3, 2020
Open Access

A novel de novo RNF216 mutation associated with autosomal recessive Huntington-like disorder

Annals of Clinical and Translational Neurology
Ke-Liang ChenJin-Tai Yu
July 2, 2020
Open Access

Bioproduction of succinic acid from xylose by engineered Yarrowia lipolytica without pH control

Biotechnology for Biofuels
Ashish A PrabhuVinod Kumar
March 18, 2020
Preprint
Open Access

Human patient SFPQ homozygous mutation is found deleterious for brain and motor development in a zebrafish model

BioRxiv : the Preprint Server for Biology
Patricia M GordonCorinne Houart

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