Results 61 to 70 of about 20,177 (294)

Complex phenotype in an Italian family with a novel mutation in SPG3A. [PDF]

open access: yes, 2010
Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in ...
ANTENORA, ANTONELLA   +11 more
core  

Cracking the Code: Which Ocular Symptoms Predict Dry Eye Signs? Insights from a large international sicca registry

open access: yesArthritis Care &Research, Accepted Article.
Purpose The study aimed to identify symptom‐based predictors of dry eye disease (DED) signs in the Sjögrens International Collaborative Clinical Alliance (SICCA) cohort. Methods Retrospective analysis examining 16 ocular symptoms (most graded 0‐4) and artificial tear (AT) use (graded 0‐3) as predictors of DED signs [abnormal ocular surface staining ...
Pragnya R Donthineni   +7 more
wiley   +1 more source

Kennedy’s Disease – Current State Of Knowledge

open access: yesQuality in Sport
Introduction: Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is a rare X-linked neuromuscular disorder primarily affecting lower motor neuron.
Gabriela Helena Dąbrowska   +9 more
doaj   +1 more source

New acute onset of ocular myasthenia gravis after COVID-19 vaccine: A case report

open access: yesJournal of Family Medicine and Primary Care, 2023
Reports have shown the association of coronavirus disease 2019 (COVID-19) with several neuromuscular disorders. Myasthenia gravis (MG) is an autoimmune disease in which antibodies bind to acetyl choline receptors in the postsynaptic membrane at the ...
Himani T. Chaturvedi   +3 more
doaj   +1 more source

Amyotrophic Lateral Sclerosis [PDF]

open access: yes, 2019
The word amyotrophic is derived from Greek, and means “without nourishment to muscles”, lateral means to the sides and sclerosis means hardened (“What is ALS?,” n.d.).
Georgetson, Anastasia M.
core   +1 more source

Stroke Mimic: A Case of Unilateral Thyrotoxic Hypokalemic Periodic Paralysis [PDF]

open access: yes, 2020
Thyrotoxic hypokalemic periodic paralysis (THPP) is a condition that results in transient skeletal muscle paralysis secondary to intracellular potassium sequestration.
Lajeunesse, Michael, Young, Scott
core  

Botulinum toxin for the treatment of lower limb cramp pain in patients with Amyotrophic Lateral Sclerosis [PDF]

open access: yes, 2020
Background: Muscle cramps and pain associated with them can be seen in patients with amyotrophic lateral sclerosis (ALS) and are known to reduce the quality of life. Pharmacological treatment may not benefit all patients in treating these cramps.
Govindarajan, Raghav   +2 more
core   +2 more sources

An Engineered Living Material With Pro‐Angiogenic Activity Inducible by Near‐Infrared Light

open access: yesAdvanced Functional Materials, EarlyView.
NIR‐responsive engineered living materials (ELMs) for controlled angiogenesis: Near‐infrared (800 nm) light activates engineered probiotic bacteria within alginate‐based living materials to secrete a blood vessel‐regenerating protein. The released protein promotes pro‐angiogenic effects in endothelial networks and chick chorioallantoic membranes.
Anwesha Chatterjee   +4 more
wiley   +1 more source

Understanding Disease Heterogeneity and Patient Characteristics in Patients with Amyotrophic Lateral Sclerosis (ALS) [PDF]

open access: yes, 2019
Background: Amytrophic lateral sclerosis (ALS) is a fatal neurologic disease that is projected to double in worldwide incidence in the next 20 years.
Mathew, Veena
core  

Photon Avalanching Nanoparticles: The Next Generation of Upconverting Nanomaterials?

open access: yesAdvanced Functional Materials, EarlyView.
This Perspective outlines the mechanistic foundations that enable photon‐avalanche (PA) behavior in lanthanide nanomaterials and contrasts them with emerging application spaces and forward‐looking design strategies. By bridging threshold engineering, energy‐transfer dynamics, and materials engineering, we provide a coherent roadmap for advancing the ...
Kimoon Lee   +7 more
wiley   +1 more source

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