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
Disrupted energy metabolism is associated with retinal ganglion cell degeneration in autosomal dominant optic atrophy

article Full Text OpenAlex

Shared and distinct phenotypic profiles among neurodevelopmental disorder genes

article Full Text OpenAlex

Muskuloskelettale Pathologien bei Kindern mit infantiler Zerebralparese: ein neues Klassifikationssystem

article Full Text OpenAlex

The PIN domain of SMG-5 functionally interacts with SMG-6 to stimulate NMD

article Full Text OpenAlex

A multi-ancestry genetic reference for the Quebec population

article Full Text OpenAlex

Charcot–Marie–Tooth disease and related neuropathies

article Full Text OpenAlex

From TDP-43/RNA complex formation to disease-linked TDP-43 aggregation through a structural and cellular approach

article Full Text OpenAlex

Loss and gain of motor protein function cause microtubule bundle damage in Drosophila axons

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

Genotype–phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality

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 196 FWCI18.4042

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

article Full Text OpenAlex 190 FWCI28.9241

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

article Full Text OpenAlex 169 FWCI31.0102

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

article Full Text OpenAlex 166 FWCI34.6475

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

review Full Text OpenAlex 148 FWCI11.5627

Hereditary Spastic Paraplegia: An Update

review Full Text OpenAlex 140 FWCI13.4476

Triggers of Guillain–Barré Syndrome: Campylobacter jejuni Predominates

review Full Text OpenAlex 133 FWCI14.5779

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

review Full Text OpenAlex 124 FWCI18.8246

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

review Full Text OpenAlex 111 FWCI10.8488

The radiologically isolated syndrome: revised diagnostic criteria

article Full Text OpenAlex 105 FWCI15.941