Results 111 to 120 of about 513,228 (356)

Midfoot and ankle movement coordination during heel rise is disrupted in people with diabetes and peripheral neuropathy

open access: green, 2022
Hyo‐Jung Jeong   +4 more
openalex   +2 more sources

Impact of Abdominoperineal Resection on Postoperative Male Sexual Function After Minimally Invasive Rectal Cancer Surgery: A Subgroup Analysis From the LANDMARC Study

open access: yesAnnals of Gastroenterological Surgery, EarlyView.
Abdominoperineal resection (APR) after minimally invasive rectal cancer surgery was associated with significantly higher rates of erectile and early ejaculatory dysfunction compared with anal‐sparing surgery. Although ejaculatory function showed partial recovery over time, erectile dysfunction persisted up to 12 months postoperatively.
Taiki Kajiwara   +14 more
wiley   +1 more source

C57BL/6 Substrain Differences in Pharmacological Effects after Acute and Repeated Nicotine Administration

open access: yesBrain Sciences, 2019
Tobacco smoking is the major cause of disability and death in the United States and around the world. In addition, tobacco dependence and addiction express themselves as complex behaviors involving an interplay of genetics, environment, and psychological
Lois S. Akinola   +6 more
doaj   +1 more source

p62/sequestosome-1 as a severity-reflecting plasma biomarker in Charcot–Marie–Tooth disease type 1A

open access: yesScientific Reports
Autophagy is a self-degradation system for recycling to maintain homeostasis. p62/sequestosome-1 (p62) is an autophagy receptor that accumulates in neuroglia in neurodegenerative diseases.
Byeol-A Yoon   +10 more
doaj   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona   +15 more
wiley   +1 more source

Clinical Reasoning: Pes cavus and neuropathy [PDF]

open access: bronze, 2019
Jillian Alderson, Partha S. Ghosh
openalex   +1 more source

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

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

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