Disease: Hereditary peripheral nervous disorder
- A case of myofibrillary myopathy due to Bcl2-Associated Athanogene 3 (BAG3) mutation complicated by peripheral neuropathy
- A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation
- A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients
- A novel HSPB1(S139F) mouse model of Charcot-Marie-Tooth Disease
- A novel HSPB1<sup>S139F</sup> mouse model of Charcot-Marie-Tooth Disease
- A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family
- Abnormal Innervation, Demyelination, and Degeneration of Spiral Ganglion Neurons as Well as Disruption of Heminodes are Involved in the Onset of Deafness in Cx26 Null Mice
- Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot-Marie-Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in <em>GDAP1</em> Gene
- Amyloid Neuropathy: From Pathophysiology to Treatment in Light-Chain Amyloidosis and Hereditary Transthyretin Amyloidosis
- An Elderly Woman with Complaints of Pain and Hearing Loss, Diagnosed with CMT1A with PMP22 Duplication
- Autonomic failure: Clinicopathologic, physiologic, and genetic aspects
- Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
- Case of bilateral hip joint Charcot arthropathy in a paediatric patient
- Case Report: A rare homozygous patient affected by <em>TTR</em> systemic amyloidosis with a prominent heart involvement
- Central neurodegeneration in Kennedy's disease accompanies peripheral motor dysfunction
- Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): diagnostic contribution of vestibular function tests
- Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS)
- Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study
- Complete Loss of Myelin protein zero (MPZ) in a patient with a late onset Charcot-Marie-Tooth (CMT)
- Conduction block and temporal dispersion in a SIGMAR1-related neuropathy
- Conduction slowing, conduction block and temporal dispersion in demyelinating, dysmyelinating and axonal neuropathies: Electrophysiology meets pathology
- Cost-effective Whole Exome Sequencing discovers pathogenic variant causing Neurofibromatosis type 1 in a family from Jammu and Kashmir, India
- CRISPR activation to characterize splice-altering variants in easily accessible cells
- Cutaneous Neurofibroma Heterogeneity: Factors that Influence Tumor Burden in Neurofibromatosis Type 1
- Decreased expression of S100A8/A9 in V30M related ATTRv amyloidosis
- Diagnostic workup for polyneuropathy
- Diagnostics and treatment of hourglass-like nerve constrictions and torsions in neuralgic amyotrophy
- DNMT1-associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype-phenotype correlation
- Dominant aminoacyl-tRNA synthetase disorders: lessons learned from <em>in vivo</em> disease models
- Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models
- Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation
- Electrodiagnostic Evaluation of Acute Inflammatory Demyelinating Polyneuropathy
- Electrodiagnostic Evaluation of Acute Inflammatory Demyelinating Polyneuropathy
- Electrodiagnostic Evaluation of Peripheral Neuropathy
- Electrodiagnostic Evaluation of Peripheral Neuropathy
- Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families
- Exploring CNS Involvement in Pain Insensitivity in Hereditary Sensory and Autonomic Neuropathy Type 4: Insights from Tc-99m ECD SPECT Imaging
- Exploring the molecular pathways and therapeutic implications of angiogenesis in neuropathic pain
- From the sideline: Tissue-specific nucleoporin function in health and disease, an update
- Genetic Approaches for the Treatment of Giant Axonal Neuropathy
- Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders
- Giant Axonal Neuropathy: A Case Report of Subclinical Childhood Manifestations
- Hereditary gelsolin amyloidosis: a rare cause of cranial, peripheral and autonomic neuropathies linked to D187N and Y447H substitutions
- Hereditary Neuropathies
- Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain-Barre Syndrome: A case report
- Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
- Hereditary transthyretin amyloidosis in the era of RNA interference, antisense oligonucleotide & CRISPR-Cas9 treatments
- Hereditary transthyretin amyloidosis in the era of RNA interference, antisense oligonucleotide, and CRISPR-Cas9 treatments
- Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry
- Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease
- Impaired motor unit recovery and maintenance in a knock-in mouse model of ALS-associated Kif5a variant
- In Vivo Ultrafast Doppler Imaging Combined with Confocal Microscopy and Behavioral Approaches to Gain Insight into the Central Expression of Peripheral Neuropathy in Trembler-J Mice
- Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin
- Living without pain. Case series of patients with hereditary sensory and autonomic neuropathies in a Canadian tertiary care centre
- Multidisciplinary amyloidosis care in the era of personalized medicine
- Multiple tendon transfer for a case of radial nerve palsy in hereditary neuropathy with liability to pressure palsy
- Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review
- Neurologic and Psychiatric Manifestations of Bradykinin-Mediated Angioedema: Old and New Challenges
- Neurological Complications Associated with Hereditary Bleeding Disorders
- Neurological disorders and hereditary podocytopathies: Some fascinating pathophysiological overlaps
- Neuromuscular Ultrasound in Polyneuropathies
- Neuropathology II: diseases of the central and peripheral nervous systems : Outlook on new techniques in electron microscopy
- New classification and approaches to the treatment of schwannomatosis
- NGF and BDNF in pediatrics syndromes
- Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies
- Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient
- Novel Mutation of Hydroxymethylbilane Synthase in a Case of Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome
- Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa
- Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias
- Peripheral nerve involvement in hereditary spastic paraplegia characterized by quantitative magnetic resonance neurography
- Pitfalls of cubital electrical nerve stimulation for neuromuscular transmission monitoring: A case report of familial amyloid polyneuropathy
- Predictors of cognitive dysfunction in hereditary transthyretin amyloidosis with liver transplant
- Progress in hereditary neuropathies, myopathies and motoneuron disorders!
- Raynaud's phenomenon in the feet of Arctic open-pit miners
- Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy
- Regression of left ventricular hypertrophy after tafamidis therapy in a patient with transthyretin amyloidosis variant
- Renal tubular acidosis in hereditary transthyretin amyloidosis (ATTRv)
- Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China
- RNA Interference and Neuromuscular Diseases: A Focus on Hereditary Transthyretin Amyloidosis
- Safety and Efficacy of Intravenous and Intrathecal Delivery of AAV9-Mediated ARSA in Minipigs
- Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial
- Scintigraphic and Echocardiographic Study of Patients with Pathogenic or Probably Pathogenic Variants of the TTR Gene without Overt Cardiac Involvement
- Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders
- Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency
- Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights
- SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights
- Spinocerebellar Ataxia
- Spinocerebellar Ataxia
- Strategy for genetic analysis in hereditary neuropathy
- Targeted inactivation of the Septin2 and Septin9 genes in myelinating Schwann cells of mice
- Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases
- The microbiota-gut-brain axis in Huntington's disease: pathogenic mechanisms and therapeutic targets
- The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants
- The value of electrochemical skin conductance measurement by Sudoscan for assessing autonomic dysfunction in peripheral neuropathies beyond diabetes
- The value of electrochemical skin conductance measurement by Sudoscan® for assessing autonomic dysfunction in peripheral neuropathies beyond diabetes
- Therapeutic Effect of Schwann Cell-Like Cells Differentiated from Human Tonsil-Derived Mesenchymal Stem Cells on Diabetic Neuropathy in db/db Mice
- TLR2 and 4 signaling pathways are altered in macrophages from V30M TTR mice with down-regulated expression of chemokines
- Toxic medications in Charcot-Marie-Tooth patients: A systematic review
- Unraveling the structures, functions and mechanisms of epithelial membrane protein family in human cancers
- Updated Evaluation of the Safety, Efficacy and Tolerability of Tafamidis in the Treatment of Hereditary Transthyretin Amyloid Polyneuropathy