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
January 31, 2020

The interaction effect between dopamine and task difficulty: Spontaneous eye blink rates diversely relate with Nogo-N2 across various task difficulties

International Journal of Psychophysiology : Official Journal of the International Organization of Psychophysiology
Ting ZhangXianzhong Han
February 24, 2020

Chorea-acanthocytosis with a novel mutation in the vacuolar protein sorting 13 homolog a gene: A case report

Journal of the Neurological Sciences
Yasutake TadaMasahito Yamada
April 2, 2020
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
November 30, 2019
Case Report
Open Access

Renal Tubular Dysgenesis in a Case of Fetus Acardius Amorphus

Case Reports in Pathology
C ThoeniF Lasitschka
January 28, 2020

"Return to duty" as an outcome metric in military concussion research: Problems, pitfalls, and potential solutions

The Clinical Neuropsychologist
Wesley R ColeKaren L McCulloch
March 8, 2020
Open Access

NBIA: a network-based integrative analysis framework - applied to pathway analysis

Scientific Reports
Tin NguyenSorin Draghici
March 5, 2020

Novel VPS13A Gene Mutations in a South Asian, Indian Patient with Chorea‑acanthocytosis

Neurology India
Akinori FutamuraKenjiro Ono
May 28, 2020
Open Access

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration

International Journal of Molecular Sciences
Paolo SantambrogioSonia Levi
January 16, 2020
Open Access

Subthalamic nucleus deep brain stimulation in two siblings with chorea-acanthocytosis

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Yunhao WuYiwen Wu
May 23, 2020
Case Report

Ejaculatory Duct Obstruction in the Setting of an Ectopic Ureter

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

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

Biochimica Et Biophysica Acta. Biomembranes
Damian KolakowskiTeresa Zoladek
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
March 1, 2020
Open Access

A novel way to synthesize pantothenate in bacteria involves β-alanine synthase present in uracil degradation pathway

MicrobiologyOpen
Mariana López-SámanoAlejandro García-de Los Santos

Sign up to follow this feed and discover related papers.

Related Feeds

ALS

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

ALS & FTD: TDP-43

ALS shares with a considerable proportion of FTD cases the same neuropathological substrate, namely, inclusions of abnormally phosphorylated protein tdp-43 (ptdp-43). Here are the latest discoveries pertaining to ptdp-43 and these diseases.

ALS - Pathogenic Mechanisms

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating pathogenic mechanisms that underlie this genetically heterogeneous disorder.

ALS - Phenotypes

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating phenotypes associated with this genetically heterogeneous disorder.

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

ALS: Prions

Prions are misfolded proteins which characterize several fatal neurodegenerative diseases. Prion-like mechanisms are associated with the pathogenesis of Amyotrophic Lateral Sclerosis (ALS). Here are the latest discoveries pertaining to this disease.

ALS: Stress Granules

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by cytoplasmic protein aggregates within motor neurons. TDP-43 is an ALS-linked protein that is known to regulate splicing and storage of specific mRNAs into stress granules, which have been implicated in formation of ALS protein aggregates. Here is the latest research.

ALS: Therapies

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS therapies here.

ALS: Transposon de-silencing

Transposon silencing is a form of transcriptional gene silencing. These gene silencing mechanisms are impaired in Amyotrophic lateral sclerosis (ALS). Here are the latest discoveries pertaining to transposon silencing and this disease.

Age-related Dementia

Age-related dementia (Alzheimer's disease) results from the destructive impact of the pulse on cerebral vasculature. Evidence is reviewed that the neuropathology of the dementia is caused by the breakdown of small cerebral vessels (silent microbleeds), that the microbleeds result from pulse-induced damage to the cerebral vessels, and that pulse becomes increasingly destructive with age, because of the age-related stiffening of the aorta and great arteries, which causes an increase in the intensity of the pressure pulse. Discover the latest research on age-related dementia here.

© 2020 Meta ULC. All rights reserved
/feed-previews/neuroacanthocytosis/49316d3a-f1bb-4997-bbd8-52223a7d40a1