Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
A consolidated study of goodness-of-fit tests
An important problem in statistical inference is to check the adequacy of models upon which inferences are based. Some valuable tools are available for examining a model's suitability of which the most widely used is the goodness-of-fit test.
Paul, Ajay K
core
Pairwise likelihood estimation and limited-information goodness-of-fit test statistics for binary factor analysis models under complex survey sampling. [PDF]
Jamil H, Moustaki I, Skinner C.
europepmc +1 more source
Dual tree complex wavelet transform-based signal denoising method exploiting neighbourhood dependencies and goodness-of-fit test. [PDF]
Naveed K, Shaukat B, Ur Rehman N.
europepmc +1 more source
Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova +9 more
wiley +1 more source
Goodness-of-fit test of the stratified mark-specific proportional hazards model with continuous mark. [PDF]
Sun Y, Li M, Gilbert PB.
europepmc +1 more source
ABSTRACT Objective Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods We analyzed U.S.
Adam de Havenon +9 more
wiley +1 more source
Improving the Hosmer-Lemeshow goodness-of-fit test in large models with replicated Bernoulli trials. [PDF]
Surjanovic N, Loughin TM.
europepmc +1 more source
The graphical method for goodness of fit test in the inverse Weibull distribution based on multiply type-II censored samples. [PDF]
Kang SB, Han JT.
europepmc +1 more source
Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin +8 more
wiley +1 more source

