Disease: Hereditary sensory neuropathy type 2
- <em>KIF1A</em> novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC
- 1-Deoxysphingolipids cause autophagosome and lysosome accumulation and trigger NLRP3 inflammasome activation
- A case of mid-face toddler excoriation syndrome (MiTES)
- A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant
- A de novo c.113 T > C: p.L38R mutation of <em>SPTLC1</em>: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis
- A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)
- A missense point mutation in nerve growth factor (NGF(R100W)) results in selective peripheral sensory neuropathy
- A missense point mutation in nerve growth factor (NGF<sup>R100W</sup>) results in selective peripheral sensory neuropathy
- A natural history analysis of asymptomatic <em>TTR</em> gene carriers as they develop symptomatic transthyretin amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS)
- A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy
- A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature
- A Rare <em>KIF1A</em> Missense Mutation Enhances Synaptic Function and Increases Seizure Activity
- A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D
- Altered Sensory Neuron Development in CMT2D Mice Is Site-Specific and Linked to Increased GlyRS Levels
- An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions
- An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness
- Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene
- Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents
- Association of variants in the KIF1A gene with amyotrophic lateral sclerosis
- Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
- Atxn2-CAG100-KnockIn mouse spinal cord shows progressive TDP43 pathology associated with cholesterol biosynthesis suppression
- Calcium-Mediated Calpain Activation and Microtubule Dissociation in Cell Model of Hereditary Sensory Neuropathy Type-1 Expressing V144D <em>SPTLC1</em> Mutation
- Calcium-Mediated Calpain Activation and Microtubule Dissociation in Cell Model of Hereditary Sensory Neuropathy Type-1 Expressing V144D SPTLC1 Mutation
- Candidate imaging biomarkers for PMP22-related inherited neuropathies
- Canonical and 1-Deoxy(methyl) Sphingoid Bases: Tackling the Effect of the Lipid Structure on Membrane Biophysical Properties
- Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature
- Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy
- Clinical features of inherited neuropathy with BSCL2 mutations in Japan
- Current approaches for treatment of hereditary transthyretin amyloidosis (ATTR)
- Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 - implications for retinal screening in HSN1
- Distal hereditary motor neuropathies
- Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population
- EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset
- Evaluation of Pathogenicity and Causativity of Variants in the <em>MPZ</em> and <em>SH3TC2</em> Genes in a Family Case of Hereditary Peripheral Neuropathy
- Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy
- Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement
- Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement
- Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
- Expression pattern analysis and characterization of the hereditary sensory and autonomic neuropathy 2 A (HSAN2A) gene with no lysine kinase (WNK1) in human dorsal root ganglion
- FAM134B oligomerization drives endoplasmic reticulum membrane scission for ER-phagy
- Fibril structures of TFG protein mutants validate the identification of TFG as a disease-related amyloid protein by the IMPAcT method
- Functional results and quality of life after joint preserving or sacrificing surgery in Charcot-Marie-Tooth foot deformities
- Genetic Landscape of <em>SH3TC2</em> variants in Russian patients with Charcot-Marie-Tooth disease
- Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review
- Hereditary Polyneuropathies
- Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant
- Hereditary Sensory and Autonomic Neuropathy Type VIII: Congenital Insensitivity to Pain with Anhidrosis
- Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy
- Heterozygous <em>KIF1A</em> variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
- High glucose level as a modifier factor in CMT1A patients
- High prevalence of carpal tunnel syndrome in individuals with rare nerve growth factor-beta mutation
- Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients
- Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene
- Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A
- Intraepidermal nerve fibre density as biomarker in Charcot-Marie-Tooth disease type 1A
- Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough
- Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC
- Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy
- Magnetic resonance imaging of dorsal root ganglion in a pre-symptomatic subject with familial amyloid polyneuropathy transthyretin E61K
- Metabolism of HSAN1- and T2DM-associated 1-deoxy-sphingolipids inhibits the migration of fibroblasts
- Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype
- Multi-type <em>RFC1</em> repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy
- Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy
- Multidimensional evaluation is necessary to assess hand function in patients with Charcot-Marie-Tooth disease type 1A
- Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
- Neurofilament Proteins as Prognostic Biomarkers in Neurological Disorders
- Neuropathic pain experience in symptomatic and presymptomatic subjects carrying a transthyretin gene mutation
- Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history
- Novel <em>TFG</em> mutation causes autosomal-dominant spastic paraplegia and defects in autophagy
- Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report
- Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family
- Novel Variants in <em>MPV17, PRX, GJB1</em>, and <em>SACS</em> Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases
- Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases
- Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients
- Pathology of the peripheral neuropathy Charcot-Marie-Tooth disease type 4H in Holstein Friesian cattle with a splice site mutation in <em>FGD4</em>
- Pathology of the peripheral neuropathy Charcot-Marie-Tooth disease type 4H in Holstein Friesian cattle with a splice site mutation in FGD4
- Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report
- Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation
- Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy
- Reactive Oxygen Species Responsive Cleavable Hierarchical Metallic Supra-Nanostructure
- Relationship between care pathway features and use or non-use of orthotic devices by individuals with Charcot-Marie-Tooth disease: a cross-sectional, exploratory study
- Safety and Efficacy of Topiramate in Individuals With Cryptogenic Sensory Peripheral Neuropathy With Metabolic Syndrome: The TopCSPN Randomized Clinical Trial
- Same same, but different? The neurological presentation of wildtype transthyretin (ATTRwt) amyloidosis
- Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family
- STING agonist-loaded mesoporous manganese-silica nanoparticles for vaccine applications
- Sural biopsy to detect the axonal cytoskeleton defects in <em>KIF5A</em>-related Charcot-Marie-Tooth disease type 2
- Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2
- Surveillance for disease progression of transthyretin amyloidosis after heart transplantation in the era of novel disease modifying therapies
- Survey of patients with advanced-stage Okinawa-type neurogenic muscular atrophy (hereditary motor and sensory neuropathy with proximal dominant involvement: HMSN-P)
- TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration
- The Antiepileptic Valproic Acid Ameliorates Charcot-Marie-Tooth 2W (CMT2W) Disease-Associated HARS1 Mutation-Induced Inhibition of Neuronal Cell Morphological Differentiation Through c-Jun N-terminal Kinase
- The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics
- The long chain base unsaturation has a stronger impact on 1-deoxy(methyl)-sphingolipids biophysical properties than the structure of its C1 functional group
- The neuropathy in hereditary transthyretin amyloidosis: A narrative review
- The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy
- Therapeutic Effect of Schwann Cell-Like Cells Differentiated from Human Tonsil-Derived Mesenchymal Stem Cells on Diabetic Neuropathy in db/db Mice
- TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations
- Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP