Results 261 to 270 of about 2,545,958 (345)
Human Mesenchymal Stem Cells Differentiate to a Cardiomyocyte Phenotype in the Adult Murine Heart
C. Toma +4 more
semanticscholar +1 more source
ABSTRACT Objective To identify metabolic patterns in the brain and musculoskeletal system of stiff person syndrome spectrum disorders (SPSD) patients over time using PET imaging and evaluate the impact of immune therapy on metabolic activity as a surrogate for treatment response.
Munther M. Queisi +4 more
wiley +1 more source
Reverse control of biological networks to restore phenotype landscapes. [PDF]
Jung I +4 more
europepmc +1 more source
NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang +7 more
wiley +1 more source
Functional Determinants and Evolutionary Consequences of Pleiotropy in Complex and Mendelian Traits. [PDF]
Barbitoff YA +4 more
europepmc +1 more source
Central Dysmyelination in SSADH‐Deficient Humans and Mice
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer +11 more
wiley +1 more source
Validation of a morphological hidradenitis suppurativa phenotype algorithm (HS-KAPPA). [PDF]
Porter ML +5 more
europepmc +1 more source
The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis
ABSTRACT Objective To investigate whether the rs10191329 risk allele in the DYSF–ZNF638 locus, which is implicated in central nervous system resilience rather than immune‐mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS). Methods From a prospective observational study,
Gabriel Bsteh +22 more
wiley +1 more source

