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
Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1

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Pathways to enhancing prenatal diagnosis of skeletal dysplasias

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Safety and efficacy of individualised exercise and NAD+ precursor supplementation in patients with Friedreich's ataxia in the USA: a single-centre, 2 × 2 factorial, randomised controlled trial

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Identification of genetic risk loci associated with aquaporin 4-positive neuromyelitis optica spectrum disorder: a genome-wide association study

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Early Levodopa-induced dyskinesias in SPG7-linked parkinsonism: a case report and literature review

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Endoplasmic Reticulum Geometry Dictates Neuronal Bursting via Calcium Store Refill Rates and Exposes Selective Neuronal Vulnerability

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Reshaping the progranulin/sortilin interaction for targeted degradation of extracellular proteins

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First-in-class blood–brain barrier shuttle wins FDA nod for Hunter syndrome

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Gait Parameters Alterations Under Dual‐Task Conditions in Patients With Acquired and Hereditary Peripheral Neuropathies

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Intellectual disability-causing mutations in KIF11 impair microtubule dynamics and dendritic arborization

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近5年高被引文献
Recommendations for clinical interpretation of variants found in non-coding regions of the genome

letter Full Text OpenAlex 252 FWCI45.304

Schwann cell functions in peripheral nerve development and repair

review Full Text OpenAlex 203 FWCI18.4915

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

article Full Text OpenAlex 201 FWCI28.5992

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

article Full Text OpenAlex 178 FWCI35.3887

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 177 FWCI30.9484

Genome Sequencing for Diagnosing Rare Diseases

article Full Text OpenAlex 173 FWCI88.3799

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

review Full Text OpenAlex 153 FWCI11.5431

Hereditary Spastic Paraplegia: An Update

review Full Text OpenAlex 144 FWCI13.4392

Triggers of Guillain–Barré Syndrome: Campylobacter jejuni Predominates

review Full Text OpenAlex 139 FWCI14.6137

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

review Full Text OpenAlex 130 FWCI18.497