Results 301 to 310 of about 1,092,875 (381)

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli   +13 more
wiley   +1 more source

Olfactory Dysfunction as a Clinical Marker of Early Glymphatic Failure in Neurodegenerative Diseases. [PDF]

open access: yesDiagnostics (Basel)
Sánchez-Benavides G   +4 more
europepmc   +1 more source

Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult‐Onset Leukoencephalopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also termed hereditary diffuse leukoencephalopathy with spheroids‐1 (HDLS1), results from mutations in the CSF1R gene and leads to progressive leukoencephalopathy.
Piervito Lopriore   +11 more
wiley   +1 more source

An Evaluation of Orthotics on In-Toeing or Out-Toeing Gait. [PDF]

open access: yesHealthcare (Basel)
Bollepalli H   +3 more
europepmc   +1 more source

Potential New Expression Biomarkers for Anorexia Nervosa

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Anorexia nervosa (AN) is a psychiatric disorder with an estimated heritability of around 70%. Although the largest meta‐analysis of genome‐wide association studies on AN identified independent risk‐conferring loci for the disorder, the molecular mechanisms underlying the genetic basis of AN remain to be elucidated.
Camille Verebi   +8 more
wiley   +1 more source

Nerve growth factor (NGF) [PDF]

open access: yes, 1989
Azzi, Angelo   +6 more
core  

The cumulative analgesic effect of repeated electroacupuncture is modulated by Adora3 in the SCDH of mice with neuropathic pain

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Neuropathic pain management via repeated electroacupuncture. Abstract Background Existing remedial approaches for relieving neuropathic pain (NPP) are challenging and open the way for alternative therapeutic measures such as electroacupuncture (EA). The mechanism underlying the antinociceptive effects of repeated EA sessions, particularly concerning ...
Faisal Ayub Kiani   +6 more
wiley   +1 more source

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