Results 101 to 110 of about 210,848 (283)
Contains reports on two research projects.National Institutes of Health (Grant 5 PO1 GM14940 ...
Gruberg, E. E., Stirling, Victoria
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Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?
Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano +20 more
wiley +1 more source
Objective To characterize Fc‐glycosylation profiles in patients with anti‐N‐methyl‐D‐aspartate receptor encephalitis (NMDARe) and assess their association with antibody compartmentalization (cerebrospinal fluid [CSF] vs serum), disease triggers (viral, tumor‐related or idiopathic), and 1‐year outcomes.
Laura Marmolejo +16 more
wiley +1 more source
Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach +14 more
wiley +1 more source
The Age at Onset of LRRK2 p.Gly2019Ser Parkinson's Disease Across Ancestries and Countries of Origin
Objectives The objective of this study was to elucidate differences in the cumulative incidence of Leucine‐rich repeat kinase 2 (LRRK2) p.Gly2019Ser‐related Parkinson's disease (PD; LRRK2‐PD) between ancestries and countries. Methods We included 922 unrelated p.Gly2019Ser variant carriers (affected = 762 and unaffected = 160) from the Global Parkinson ...
Theresa Lüth +14 more
wiley +1 more source
Contains reports on one research project.National Institutes of Health (Grant 1 ROl EY01149-01)Bell Telephone Laboratories, Inc ...
Brill, Michael H.
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Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul +15 more
wiley +1 more source
Objective Heightened sensitivity to noxious stimulation is a hallmark of chronic pain. Emerging evidence suggests heightened unpleasantness to non‐noxious (eg, auditory) aversive stimulation also characterizes chronic pain, but its magnitude, neural mechanisms, and treatment modifiability remain unknown.
Alina E. C. Panzel +4 more
wiley +1 more source
Perception of Lower Extremity Loads in Stroke Survivors [PDF]
Objective: This study aimed to improve our understanding of static and dynamic lower extremity sensory perception and the impact of sensory impairments on the control of walking in stroke survivors. Methods: Using a custom, real-time unloading system, we
Chu, Virginia W. +2 more
core +1 more source
Objective Lactate is increasingly recognized as an energy substrate, but its relevance to amyotrophic lateral sclerosis (ALS) remains unclear. We examined whether blood lactate is associated with survival and weight loss in ALS. Methods This retrospective study included an Australian exploratory cohort and a Japanese validation cohort with clinical ...
Ryutaro Nakamura +8 more
wiley +1 more source

