• "Loss of Bone Signal" on 99m Tc-Labeled Pyrophosphate Scintigraphy in a Patient With Wild-Type Transthyretin Amyloidosis
• 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 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
• 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
• 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)
• Cardiac Biomarker Change at 1 Year After Tafamidis Treatment and Clinical Outcomes in Patients With Transthyretin Amyloid Cardiomyopathy
• Charcot-Marie-Tooth Disease
• Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease
• 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 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
• Deep phenotyping of p.(V142I)-associated variant transthyretin amyloid cardiomyopathy: Distinct from wild-type transthyretin amyloidosis?
• Diflunisal versus tafamidis on neuropathy and cardiomyopathy in hereditary 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
• 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
• 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
• 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 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
• Familial dysautonomia
• Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)
• Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population
• Gene therapy for Leber hereditary optic neuropathy
• Genetics of diabetes
• Hereditary transthyretin amyloidosis presenting with prominent autonomic dysfunction
• Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry
• HSPB1 mutation causing distal Hereditary Motor Neuropathy type 2B in a Polish family
• Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients
• Immune dysregulation in chronic inflammatory demyelinating polyneuropathy
• 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
• Insights into phenotypic variability caused by GARS1 pathogenic variants
• Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A
• Inverse correlation between age of onset and myocardial amyloid deposition quantified by (99m)Tc-PYP scintigraphy in patients with wild-type transthyretin amyloid cardiomyopathy
• 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
• Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure
• Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort
• Neurological affection and serum neurofilament light chain in wild type transthyretin amyloidosis
• Neurological manifestations of ATTR amyloidosis
• 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
• 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 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, 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
• 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
• Scintigraphic and Echocardiographic Study of Patients with Pathogenic or Probably Pathogenic Variants of the TTR Gene without Overt Cardiac Involvement
• Sensorimotor control in the congenital absence of functional muscle spindles
• Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders
• 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
• Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms
• Strong positive light chain immunostaining in a patient with transthyretin amyloidosis
• Tafamidis in the Treatment of ATTR-related Cardiomyopathy: Indications and Grey Zones
• 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
• Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1
• Transthyretin amyloid cardiomyopathy among patients with heart failure and preserved ejection fraction: the AMY score
• Wild-type transthyretin cardiac amyloidosis is not rare in elderly subjects: the CATCH screening study
• World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)