Results 71 to 80 of about 273,790 (308)

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma   +12 more
wiley   +1 more source

The Impact of poor glycaemic control on the prevalence of erectile dysfunction in men with type 2 Diabetes Mellitus: A Systematic Review. [PDF]

open access: yes, 2015
To determine the impact of poor glycaemic control on the prevalence of erectile dysfunction among men with type 2 Diabetics aged 27 to 85 years.The databases Embase classic+Embase, Global health, Ovid Medline and PsychINFO, were searched for relevant ...
Alsaad, S   +4 more
core   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt   +9 more
wiley   +1 more source

Neuropathy - gait changes in the diabetic foot [PDF]

open access: yes, 2008
Motor neuropathy in patients with diabetes can lead to weakness in the muscles of the foot and lower leg, which in turn can lead to characteristic changes to the structure of the foot, such as an altered arch profile.
McIntosh, Caroline, Newton, Veronica
core  

Recombinant Human Neuregulin1‐β1 Significantly Reduces Schwannoma Growth in Mice

open access: yesAnnals of Neurology, EarlyView.
rhNRGβ1‐Replacement‐Therapy: Under physiological conditions, NRGβ1 is expressed on axons (in orange), where it activates ERBB2 receptors, facilitating successful nerve regeneration following injury. However, loss of NF2 leads to a reduction in NRGβ1‐expression and increased ErbB2 levels on Schwann cells (in green), which contributes to schwannoma ...
Julia P. Bischoff   +7 more
wiley   +1 more source

Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations [PDF]

open access: yes, 2007
Mfn2, an oligomeric mitochondrial protein important for mitochondrial fusion, is mutated in Charcot-Marie-Tooth disease (CMT) type 2A, a peripheral neuropathy characterized by axonal degeneration.
Chan, David C., Detmer, Scott A.
core   +2 more sources

Neurofilament Proteoforms in Amyotrophic Lateral Sclerosis Are Different in Cerebrospinal Fluid and Blood

open access: yesAnnals of Neurology, EarlyView.
We used targeted immunopurification‐mass spectrometry (IP‐MS) to characterize human neurofilament light chain (NfL) proteoforms across various compartments to assess their alterations in amyotrophic lateral sclerosis (ALS). NfL is truncated in cerebrospinal fluid (CSF) and blood in patients with sporadic ALS (sALS) and these proteoforms differ between ...
John B. Coulton   +11 more
wiley   +1 more source

Conditioning Electrical Stimulation for Patients with Moderate or Severe Carpal Tunnel Syndrome: Double Blinded Randomized Controlled Trial

open access: yesAnnals of Neurology, EarlyView.
Objective Carpal tunnel syndrome (CTS) can drastically impair one's ability to work and interferes with activities of daily living. We recently demonstrated that, in rodents, conditioning electrical stimulation (CES) delivered to the nerve 7 days prior to surgery imparts a conditioning lesion‐like effect by accelerating the rate of regeneration along ...
Yusuke Osaki   +19 more
wiley   +1 more source

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