# Hereditary Neurological Disorders
**Type:** Topics
**Canonical URL:** https://scholariq.org/topics/hereditary-neurological-disorders/
## Facts
| Field | Value |
| --- | --- |
| Description | 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. |
| Domain | Life Sciences |
| Field | Neuroscience |
| OpenAlex ID | t12331 |
| Works | 81 |
## Topic papers all
Showing 15 of 81.
- [A randomized trial of plasma exchange in acute central nervous system inflammatory demyelinating disease](https://scholariq.org/papers/a-randomized-trial-of-plasma-exchange-in-acute-central-nervous-system/)
- [Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia](https://scholariq.org/papers/mutations-in-the-endosomal-escrtiii-complex-subunit-chmp2b-in-frontotemporal/)
- [Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy](https://scholariq.org/papers/whole-genome-sequencing-in-a-patient-with-charcot-marie-tooth-neuropathy/)
- [Gain of function Na V 1.7 mutations in idiopathic small fiber neuropathy](https://scholariq.org/papers/gain-of-function-na-sub-v-sub-1-7-mutations-in-idiopathic-small-fiber-neuropathy/)
- [Carbohydrate mimicry between human ganglioside GM1 and Campylobacter jejuni lipooligosaccharide causes Guillain–Barré syndrome](https://scholariq.org/papers/carbohydrate-mimicry-between-human-ganglioside-gm1-and-i-campylobacter-jejuni-i/)
- [The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy](https://scholariq.org/papers/the-gene-encoding-gigaxonin-a-new-member-of-the-cytoskeletal-btb-kelch-repeat/)
- [Sequential electrodiagnostic abnormalities in acute inflammatory demyelinating polyradiculoneuropathy](https://scholariq.org/papers/sequential-electrodiagnostic-abnormalities-in-acute-inflammatory-demyelinating/)
- [Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study](https://scholariq.org/papers/nusinersen-in-adults-with-5q-spinal-muscular-atrophy-a-non-interventional/)
- [Acquired inflammatory demyelinating polyneuropathies: Clinical and electrodiagnostic features](https://scholariq.org/papers/acquired-inflammatory-demyelinating-polyneuropathies-clinical-and/)
- [Regional variation of Guillain-Barré syndrome](https://scholariq.org/papers/regional-variation-of-guillain-barre-syndrome/)
- [Targeted next generation sequencing as a diagnostic tool in epileptic disorders](https://scholariq.org/papers/targeted-next-generation-sequencing-as-a-diagnostic-tool-in-epileptic-disorders/)
- [Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)](https://scholariq.org/papers/multi-disciplinary-clinical-study-of-smith-magenis-syndrome-deletion-17p11-2/)
- [Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy](https://scholariq.org/papers/hepatotoxicity-following-administration-of-onasemnogene-abeparvovec-avxs-101-for/)
- [Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers](https://scholariq.org/papers/long-term-arrhythmic-and-nonarrhythmic-outcomes-of-lamin-a-c-mutation-carriers/)
- [Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A](https://scholariq.org/papers/gene-dosage-is-a-mechanism-for-charcot-marie-tooth-disease-type-1a/)
## Topic primary papers
Showing 15 of 26.
- [Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy](https://scholariq.org/papers/whole-genome-sequencing-in-a-patient-with-charcot-marie-tooth-neuropathy/)
- [Gain of function Na V 1.7 mutations in idiopathic small fiber neuropathy](https://scholariq.org/papers/gain-of-function-na-sub-v-sub-1-7-mutations-in-idiopathic-small-fiber-neuropathy/)
- [Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)](https://scholariq.org/papers/multi-disciplinary-clinical-study-of-smith-magenis-syndrome-deletion-17p11-2/)
- [Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A](https://scholariq.org/papers/gene-dosage-is-a-mechanism-for-charcot-marie-tooth-disease-type-1a/)
- [Emerging Role for Autophagy in the Removal of Aggresomes in Schwann Cells](https://scholariq.org/papers/emerging-role-for-autophagy-in-the-removal-of-aggresomes-in-schwann-cells/)
- [Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy](https://scholariq.org/papers/exome-sequence-analysis-suggests-that-genetic-burden-contributes-to-phenotypic/)
- [Genetic and phenotypic characterization of complex hereditary spastic paraplegia](https://scholariq.org/papers/genetic-and-phenotypic-characterization-of-complex-hereditary-spastic-paraplegia/)
- [Monogenic variants in dystonia: an exome-wide sequencing study](https://scholariq.org/papers/monogenic-variants-in-dystonia-an-exome-wide-sequencing-study/)
- [Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy](https://scholariq.org/papers/compound-heterozygosity-for-loss-of-function-lysyl-trna-synthetase-mutations-in/)
- [Ultrastructural PMP22 expression in inherited demyelinating neuropathies](https://scholariq.org/papers/ultrastructural-pmp22-expression-in-inherited-demyelinating-neuropathies/)
- [Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis](https://scholariq.org/papers/absent-innervation-of-skin-and-sweat-glands-in-congenital-insensitivity-to-pain/)
- [Hyperglycemia Promotes Schwann Cell De-differentiation and De-myelination via Sorbitol Accumulation and Igf1 Protein Down-regulation](https://scholariq.org/papers/hyperglycemia-promotes-schwann-cell-de-differentiation-and-de-myelination-via/)
- [Diagnosis of Charcot‐Marie‐Tooth Disease](https://scholariq.org/papers/diagnosis-of-charcot-marie-tooth-disease/)
- [Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study](https://scholariq.org/papers/next-generation-molecular-diagnosis-of-hereditary-spastic-paraplegias-an-italian/)
- [Spastin, atlastin, and ER relocalization are involved in axon but not dendrite regeneration](https://scholariq.org/papers/spastin-atlastin-and-er-relocalization-are-involved-in-axon-but-not-dendrite/)
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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.