Using reporting guidelines to improve the reproducibility of cooking Christmas tree meringues: the "People tasting trees" cluster-randomised controlled trial. [PDF]
Vinatier C +7 more
europepmc +1 more source
INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano +27 more
wiley +1 more source
Validação do questionário de avaliação funcional das mãos em hanseníase
OBJETIVO: Validar as propriedades psicométricas do questionário de avaliação funcional das mãos em hanseníase. MÉTODOS: Estudo realizado com amostra de conveniência de 101 pacientes consecutivos em Brasília, DF, de junho de 2008 a julho de 2009.
Telma Leonel Ferreira +2 more
doaj
Evaluation of the Repeatability and Reproducibility of the Results of Lymph Node Cytology for <i>Leishmania</i> Amastigotes in Dogs Without Leishmaniosis and in Dogs with Leishmaniosis Before, During, and After Treatment. [PDF]
Pseftogka A +5 more
europepmc +1 more source
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
Comparison of the reliability of ANB Sar and W measurements used in cephalometric diagnostics for the assessment of sagittal discrepancy. [PDF]
Kotuła J +7 more
europepmc +1 more source
Quantitative Assessment of Upper Limb Ataxia Using a Virtual Reality‐Based Evaluation System
ABSTRACT Objective Cerebellar ataxia impairs coordination and balance, reducing quality of life. Conventional clinical scales, including the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS), are widely used to assess ataxia but are limited by subjectivity and inter‐rater variability ...
Masayuki Sato +5 more
wiley +1 more source
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando +13 more
wiley +1 more source
Radiomics Reproducibility in Prostate Cancer Diagnosis Based on PROSTATEx. [PDF]
Jung S, Kim JS.
europepmc +1 more source

