Results 211 to 220 of about 1,997,596 (295)

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Explanatory capacity of measures of community context for paediatric injury hospitalisations in the USA. [PDF]

open access: yesInj Prev
Puls HT   +6 more
europepmc   +1 more source

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann   +6 more
wiley   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Longitudinal Relationship Between Pain and Depression in People With Inflammatory Arthritis: A Narrative Review

open access: yesArthritis Care &Research, EarlyView.
As many patients with inflammatory arthritis (IA) have chronic pain, understanding how to best assess and manage pain in IA is a priority. Comorbid depression is prevalent in adults with IA, affecting 15% to 39% of people. Although pain and depression are thought to be associated in IA, this concept is largely based on cross‐sectional data.
Natasha Cox   +3 more
wiley   +1 more source

Lessons learned from mothers: Parenting perspectives for preventing pediatric unintentional injuries related to autism. [PDF]

open access: yesClin Pract Pediatr Psychol
Mercier A   +5 more
europepmc   +1 more source

Real‐World Cost‐Effectiveness of a Standardized Education and Exercise Therapy Program for Hip and Knee Osteoarthritis Compared to Usual Care

open access: yesArthritis Care &Research, EarlyView.
Objective We estimated the real‐world cost‐effectiveness of a standardized education and exercise therapy program (GLA:D) compared to usual care (UC) for people managing hip and/or knee osteoarthritis (HKOA). Methods We used a prospective matched cohort design to recruit people (aged >45 years) diagnosed with HKOA who used GLA:D or UC (not on a ...
Darren R. Mazzei   +4 more
wiley   +1 more source

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