• A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)
• A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing
• A dominant variant in apoptosis-related gene XKR8 is relevant to hereditary auditory neuropathy
• A novel HSPB1^S139F mouse model of Charcot-Marie-Tooth Disease
• A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness
• A novel TTR mutation (p.Ala65Val) underlying late-onset hereditary transthyretin (ATTRv) amyloidosis with mixed cardiac and neuropathic phenotype: a case report
• A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom - skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report
• A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review
• AAV-mediated editing of PMP22 rescues Charcot-Marie-Tooth disease type 1A features in patient-derived iPS Schwann cells
• AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review
• Amylo-AFFECT-QOL, a self-reported questionnaire to assess health-related quality of life and to determine the prognosis in cardiac amyloidosis
• Assessment of potential transthyretin amyloid cardiomyopathy cases in the Brazilian public health system using a machine learning model
• Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review
• Biochemical and biophysical properties of a rare TTRA81V mutation causing mild transthyretin amyloid cardiomyopathy
• Biomarkers of axonal damage to favor early diagnosis in variant transthyretin amyloidosis (A-ATTRv)
• Case of bilateral hip joint Charcot arthropathy in a paediatric patient
• Changes in visual acuity using low vision devices in patients with Leber hereditary optic neuropathy: A retrospective study
• Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects
• Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease
• Clinical and Histopathologic Characteristics and Template of the TGFBI p.(His626Arg) Missense Variant Lattice Corneal Dystrophy
• Clinical and Prognostic Implications of Right Ventricular Uptake on Bone Scintigraphy in Transthyretin Amyloid Cardiomyopathy
• Clinical Penetrance of the Transthyretin V122I Variant in Older Black Patients With Heart Failure: The SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study
• Congenital Insensitivity to Pain With Anhidrosis: A Case Report and Review of the Pertinent Literature
• Cryo-EM structure of an ATTRwt amyloid fibril from systemic non-hereditary transthyretin amyloidosis
• Deep phenotyping of p.(V142I)-associated variant transthyretin amyloid cardiomyopathy: Distinct from wild-type transthyretin amyloidosis?
• Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease
• DNMT1 Y495C mutation interferes with maintenance methylation of imprinting control regions
• DNMT1-associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype-phenotype correlation
• EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset
• Electrodiagnostic Evaluation of Peripheral Neuropathy
• Electrodiagnostic Evaluation of Peripheral Neuropathy
• 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&gt;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
• Expanding the spectrum of <em>KIF5A</em> mutations-case report of a large kindred with familial ALS and overlapping syndrome
• 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
• Familial dysautonomia
• First Norwegian case of hereditary ATTR amyloidosis with a novel transthyretin variant
• Genetics of diabetes
• GenEye24: Novel rapid screening test for the top-3 Leber's Hereditary Optic Neuropathy pathogenic sequence variants
• Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry
• HSPB1 mutation causing distal Hereditary Motor Neuropathy type 2B in a Polish family
• HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies
• Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients
• Impact of vutrisiran on exploratory cardiac parameters in hereditary transthyretin-mediated amyloidosis with polyneuropathy
• 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
• Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A
• Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort
• Isolation and transfection of myenteric neurons from mice for patch-clamp applications
• Late Onset of Severe Demyelinating Peripheral Neuropathy in a 62-Year-Old African American Woman
• Leber hereditary optic neuropathy gene therapy
• Leber's hereditary optic neuropathy: Update on the novel genes and therapeutic options
• Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy
• Mismatch between subjective and objective dysautonomia
• Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype
• Molecular characterization of wild-type and HSAN2B-linked FAM134B
• Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort
• Neurological manifestations of ATTR amyloidosis
• Neuropathic pain experience in symptomatic and presymptomatic subjects carrying a transthyretin gene mutation
• Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy
• Ophthalmological involvement in wild-type transthyretin amyloidosis: A multimodal imaging study
• Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T &gt; C mutation
• Orthopedic Manifestations of Hereditary Sensory and Autonomic Neuropathy IV in a 10-Year-Old Patient
• Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis
• Performance of (99m)Tc-PYP scintigraphy in the diagnosis of hereditary transthyretin cardiac amyloidosis
• Phase 1 Trial of Antibody NI006 for Depletion of Cardiac Transthyretin Amyloid
• Phenotypes Associated With the Val122Ile, Leu58His, and Late-Onset Val30Met Variants in Patients With Hereditary Transthyretin Amyloidosis
• Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report
• Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS)
• Preclinical evaluation of the efficacy and safety of AAV1-hOTOF in mice and nonhuman primates
• Prevalence of transthyretin-related amyloidosis in Tuscany: Data from the regional population-based registry
• Prevalence, incidence and clinical outcomes of epicardial coronary artery disease among transthyretin amyloidosis cardiomyopathy patients
• Ptosis Correction
• Ptosis Correction
• Real-Life Evaluation of an Algorithm for the Diagnosis of Cardiac Amyloidosis
• Real-World Characteristics of Patients with Wild-Type Transthyretin Amyloid Cardiomyopathy: An Analysis of Electronic Healthcare Records in the United States
• Reduction in ^99mTc-DPD myocardial uptake with therapy of ATTR cardiomyopathy
• Regression of Myocardial ^99mTc-DPD Uptake After Tafamidis Treatment of Cardiac Transthyretin Amyloidosis
• 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
• Report of Consensus Panel 6 from the 11 th International Workshop on Waldenström's Macroglobulinemia on Management of Waldenström's Macroglobulinemia Related Amyloidosis
• RNA therapeutics for metabolic disorders
• Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues
• Safety and Efficacy of Topiramate in Individuals With Cryptogenic Sensory Peripheral Neuropathy With Metabolic Syndrome: The TopCSPN Randomized Clinical Trial
• Safety of Lenadogene Nolparvovec Gene Therapy Over 5 Years in 189 Patients With Leber Hereditary Optic Neuropathy
• Sensorimotor control in the congenital absence of functional muscle spindles
• Sex differences among patients with transthyretin amyloid cardiomyopathy - from diagnosis to prognosis
• SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages
• Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family
• Strong positive light chain immunostaining in a patient with transthyretin amyloidosis
• Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis
• Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases
• The <em>DST</em> gene in neurobiology
• The human OPA1(delTTAG) mutation induces adult onset and progressive auditory neuropathy in mice
• The human OPA1^delTTAG mutation induces adult onset and progressive auditory neuropathy in mice
• The Impact of a Late Diagnosis: A Case of Charcot-Marie-Tooth Type 1
• The spatiotemporal matching pattern of Ezrin/Periaxin involved in myoblast differentiation and fusion and Charcot-Marie-Tooth disease-associated muscle atrophy
• Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1
• World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)