Disease: Hereditary type 2 neuropathy
- 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 Hereditary Neuropathy Overview
- 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 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?
- Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3
- 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
- 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
- Fibril structures of TFG protein mutants validate the identification of TFG as a disease-related amyloid protein by the IMPAcT method
- Genetics of diabetes
- 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
- 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 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 CoQ<sub>10</sub> deficiency: Hypomorphic variants and two distinct disease entities
- Ptosis Correction
- Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy
- Regression of Myocardial <sup>99m</sup>Tc-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
- 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
- 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
- Unraveling haplotype errors in the DFNA33 locus