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
Deciphering genetic causality between plasma BDNF and 91 circulating inflammatory proteins through bidirectional mendelian randomization

article Full Text OpenAlex

Causal effects of systemic inflammatory proteins on Guillain-Barre Syndrome: insights from genome-wide Mendelian randomization, single-cell RNA sequencing analysis, and network pharmacology

article Full Text OpenAlex

Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study

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A case of central diabetes insipidus after COVID-19 as a probable diagnosis of lymphocytic infundibulo-neurohypophysitis with positive anti-rabphilin-3A antibodies with review of literature

review Full Text OpenAlex

Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria

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Classification of upper limb spasticity patterns in patients with multiple sclerosis: a pilot observational study

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Dysautonomia: Recommendations from A to Z

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Incidence and prevalence of idiopathic inflammatory myopathies in Thailand from the Ministry of Public Health data analysis

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Neuronal and glial cell alterations involved in the retinal degeneration of the familial dysautonomia optic neuropathy

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Comparison of the diagnostic accuracy of the 2010 European Federation of Neurological Societies/Peripheral Nerve Society and American Association of Electrodiagnostic Medicine diagnostic criteria for multifocal motor neuropathy

article Full Text OpenAlex

近5年高被引文献
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision

article Full Text OpenAlex 441 FWCI44.37187148

European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision

article Full Text OpenAlex 381 FWCI34.46622433

Clinical Guidelines for Diagnosis and Treatment of Botulism, 2021

article Full Text OpenAlex 178 FWCI16.28325559

Schwann cell functions in peripheral nerve development and repair

review Full Text OpenAlex 175 FWCI24.06074245

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

article Full Text OpenAlex 167 FWCI35.1254361

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

article Full Text OpenAlex 143 FWCI43.93120077

Hereditary Spastic Paraplegia: An Update

review Full Text OpenAlex 130 FWCI17.87369439

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

review Full Text OpenAlex 127 FWCI17.08969364

Association of Receipt of the Ad26.COV2.S COVID-19 Vaccine With Presumptive Guillain-Barré Syndrome, February-July 2021

article Full Text OpenAlex 123 FWCI15.8761742

RFC1 expansions are a common cause of idiopathic sensory neuropathy

article Full Text OpenAlex 122 FWCI12.37452035