专题:Hereditary Neurological Disorders

This cluster of papers explores the genetic basis and molecular mechanisms underlying various neuropathies, including Charcot-Marie-Tooth disease, hereditary spastic paraplegia, and related disorders. It covers topics such as genetic mutations, axonal degeneration, nerve growth factor, mitochondrial dysfunction, and microtubule dynamics. The research also delves into the role of neurofilament mutations and ganglioside-induced differentiation in these neuropathies.
最新文献
Genetic elastic fiber disorders as neurovascular syndromes: An emerging perspective

article Full Text OpenAlex

CURE ID : A Platform to Collect Real‐World Treatment Data for Drug Repurposing in Rare Genetic Disorders

article Full Text OpenAlex

A Mutation in Vesicular Acetylcholine Transporter Increases Tubulin Acetylation Compromising Synaptic Vesicle Transport

article Full Text OpenAlex

Building on European Reference Network for Rare Neurological Diseases (ERNRND) Experience: Integrating Motor and Non‐Motor Assessment in Pediatric Movement Disorders

article Full Text OpenAlex

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis

article Full Text OpenAlex

Advancing Clinical Use of Neurofilament Light Chain: Translational Insights From Research to Routine Practice

article Full Text OpenAlex

Comment on: A Case of Acute‐Onset CIDP With Pleocytosis in Cerebrospinal Fluid Presenting With Recurrent Acute Limb Weakness

article Full Text OpenAlex

Rituximab for antibody-negative combined central and peripheral demyelination presenting with acute respiratory failure: a case report and literature review

article Full Text OpenAlex

Update on Genetic Chorea

review Full Text OpenAlex

B-type natriuretic peptide in Parkinson's disease: a novel biomarker of dysautonomia

article Full Text OpenAlex

近5年高被引文献
Schwann cell functions in peripheral nerve development and repair

review Full Text OpenAlex 181 FWCI24.74819223

Cross-species transcriptomic atlas of dorsal root ganglia reveals species-specific programs for sensory function

article Full Text OpenAlex 179 FWCI37.64941953

European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain–Barré syndrome

article Full Text OpenAlex 152 FWCI46.69610151

Monogenic Parkinson’s Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing

review Full Text OpenAlex 139 FWCI18.30077429

Hereditary Spastic Paraplegia: An Update

review Full Text OpenAlex 134 FWCI18.28616426

Triggers of Guillain–Barré Syndrome: Campylobacter jejuni Predominates

review Full Text OpenAlex 119 FWCI19.8660854

Overview of myelin, major myelin lipids, and myelin-associated proteins

review Full Text OpenAlex 116 FWCI24.39850651

The multifaceted role of neurofilament light chain protein in non-primary neurological diseases

review Full Text OpenAlex 109 FWCI14.84891534

Association of Maintenance Intravenous Immunoglobulin With Prevention of Relapse in Adult Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease

article Full Text OpenAlex 97 FWCI19.27647976

The radiologically isolated syndrome: revised diagnostic criteria

article Full Text OpenAlex 93 FWCI19.5608716