Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Relative effectiveness of robot-assisted and standard laparoscopic prostatectomy as alternatives to open radical prostatectomy for treatment of localised prostate cancer : a systematic review and mixed treatment comparison meta-analysis [PDF]
, 2013 © 2013 The Authors.
Close, Andrew +8 more
core +1 more source
Dementia Incidence in Individuals With Parkinson's Disease in the Framingham Heart Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Limited information exists on incident dementia in individuals with Parkinson's disease (PD) in US community‐based samples. We examined cognitive statuses and PD diagnoses of 183 individuals in the Framingham Heart Study (FHS) to establish incident dementia, mortality rates, associations with sex, age at PD onset, and education level.
Joshi Dookhy +11 more
wiley +1 more source
Report of 3 Cases of Emery-Dreifuss Muscular Dystrophy in a Family
پزشکی بالینی ابن سینا, 2004 Emery-Dreifuss muscular dystrophy (EDMD)can be seen in the middle childhood and the genetic patterns of them are X-linked recessive, autosomal dominant or recessive.
Parviz Yazdanpanah +5 more
doaj
A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento +3 more
wiley +1 more source
Phoenix dactylifera L. sap enhances wound healing in Wistar rats : Phytochemical and histological assessment [PDF]
, 2016 Acknowledgment Financial support of the Tunisian Ministry of Higher Education and Scientific Research is gratefully acknowledged.Peer ...
Abdennabi, Raed +8 more
core +3 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
Pansclerotic morphea: A male child with hemiatrophy of lower limb
Indian Dermatology Online Journal, 2014 Morphea is a variant of localized scleroderma in which lesions are usually limited to the skin and subcutaneous tissue. Pansclerotic morphea is a rare atrophying and sclerosing type of morphea. It can follow a comparatively benign course with spontaneous
Malay K Dasgupta +3 more
doaj +1 more source
Influence of temperature on the calcium sensitivity of the myofilaments of skinned ventricular muscle from the rabbit. [PDF]
, 1989 The steady-state myofilament Ca sensitivity was determined in skinned cardiac trabeculae from the rabbit right ventricle (diameter, 0.13-0.34 mm) at 36, 29, 22, 15, 8, and 1 degree C.
Bers, DM, Harrison, SM
core +3 more sources
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source