• A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)
• A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant
• A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency
• 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
• AAV-mediated editing of PMP22 rescues Charcot-Marie-Tooth disease type 1A features in patient-derived iPS Schwann cells
• Alstrom's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis
• Assessment of potential transthyretin amyloid cardiomyopathy cases in the Brazilian public health system using a machine learning model
• Biochemical and biophysical properties of a rare TTRA81V mutation causing mild transthyretin amyloid cardiomyopathy
• Charcot-Marie-Tooth Disease
• Charcot-Marie-Tooth Hereditary Neuropathy Overview
• Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of Sao Paulo, Brazil (REACT-SP)
• Clinical and Prognostic Implications of Right Ventricular Uptake on Bone Scintigraphy in Transthyretin Amyloid Cardiomyopathy
• Clinical characteristics and prognostic implications of orthopedic ligament disorders in patients with wild-type transthyretin amyloidosis cardiomyopathy
• Clinical characteristics and prognostic implications of orthopedic ligament disorders in patients with wild-type transthyretin amyloidosis cardiomyopathy
• Clinical outcomes of catheter ablation for atrial fibrillation, atrial flutter, and atrial tachycardia in wild-type transthyretin amyloid cardiomyopathy: a proposed treatment strategy for catheter ablation in each arrhythmia
• 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
• De Novo Fibrinogen A Alpha Chain Amyloidosis in a Kidney Transplant Patient: Case Report and Literature Review
• Deep phenotyping of p.(V142I)-associated variant transthyretin amyloid cardiomyopathy: Distinct from wild-type transthyretin amyloidosis?
• Diagnostic Pitfall and Clinical Characteristics of Variant Versus Wild-Type Transthyretin Amyloid Cardiomyopathy in Asian Population: The Korean Nationwide Cohort Study
• Diflunisal versus tafamidis on neuropathy and cardiomyopathy in hereditary transthyretin amyloidosis
• Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3
• Distal hereditary motor neuropathies
• Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy
• Effects of tafamidis on the left ventricular and left atrial strain in patients with wild-type transthyretin cardiac amyloidosis
• 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
• Exercise Hemodynamics and Mitochondrial Oxidative Capacity in Disease Stages of Wild-Type Transthyretin Amyloid Cardiomyopathy
• 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 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
• Family Planning in Genetic Optic Atrophies in Israel, a Case Series and a Discussion of Ethical Considerations
• Fibril structures of TFG protein mutants validate the identification of TFG as a disease-related amyloid protein by the IMPAcT method
• Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population
• Gait abnormalities in older adults with transthyretin cardiac amyloidosis
• Genetic Landscape of <em>SH3TC2</em> variants in Russian patients with Charcot-Marie-Tooth disease
• Genetics of diabetes
• Hereditary transthyretin amyloidosis presenting with prominent autonomic dysfunction
• Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy
• Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry
• 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
• Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A
• 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
• Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype
• Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort
• Novel <em>TFG</em> mutation causes autosomal-dominant spastic paraplegia and defects in autophagy
• Ocular stress enhances contralateral transfer of lenadogene nolparvovec gene therapy through astrocyte networks
• Outcomes in Cardiac Transthyretin Amyloidosis and Association With New York Heart Association Class: Real-World Data
• 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
• Phenotype and prognostic factors in geriatric and non-geriatric patients with transthyretin cardiomyopathy
• Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report
• Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy
• Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ₁₀ deficiency: Hypomorphic variants and two distinct disease entities
• Prevalence, Characteristics, and Impact on Prognosis of Aortic Stenosis in Patients With Cardiac Amyloidosis
• Primary Data on ATTR-Amyloidosis Prevalence Among Elderly Patients With Left Ventricular Hypertrophy in Russia
• Prognostic Value of a 6-Minute Walk Test in Patients With Transthyretin Cardiac Amyloidosis
• Ptosis Correction
• Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy
• 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
• Safety and Efficacy of Topiramate in Individuals With Cryptogenic Sensory Peripheral Neuropathy With Metabolic Syndrome: The TopCSPN Randomized Clinical Trial
• Scintigraphic and Echocardiographic Study of Patients with Pathogenic or Probably Pathogenic Variants of the TTR Gene without Overt Cardiac Involvement
• SGLT2 Inhibitor Therapy in Patients With Transthyretin Amyloid Cardiomyopathy
• SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause
• Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family
• Symmetric DWI hyperintensities in CMT1X patients after SARS-CoV-2 vaccination should not be classified as stroke-like lesions
• Tafamidis in the Treatment of ATTR-related Cardiomyopathy: Indications and Grey Zones
• The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics
• 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
• Unraveling haplotype errors in the DFNA33 locus