Results 121 to 130 of about 70,653 (310)
Fatal pneumonia in a patient with Kearns-Sayre syndrome case report and literature review
Frontiers in MedicineKearns-Sayre syndrome is a mitochondrial DNA deletion disorder, classically characterized by a triad of onset before the age of 20, pigmentary retinopathy, and chronic progressive external ophthalmoplegia (CPEO).
Jiaqi Zhang +4 more
doaj +1 more source
Linear scleroderma ‘en coup de sabre’ with ptosis and oculomotility disorders: case report and review of the literature [PDF]
, 2010 Claire Taylor +2 more
openalex +1 more source
The highs and lows of Medisoft as an audit tool: lessons from a 5-year upper eyelid ptosis audit [PDF]
, 2020 Samantha Hunt, Richard Caesar
openalex +1 more source
Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell +8 more
wiley +1 more source
Canadian Medical Association Journal, 2015 Colin W, McInnes, Matthew, Lee-Wing
openaire +2 more sources
Degree of transverse colon ptosis: an alternative surrogate for evaluation of slow transit constipation [PDF]
, 2023 Kongliang Sun +10 more
openalex +1 more source
British Journal of Pharmacology, Volume 183, Issue 7, Page 1517-1538, April 2026.Abstract Background and Purpose Alarming trends show that vaping e‐cigarettes containing synthetic cannabinoid receptor agonists, such as JWH‐018, is increasing among youth. However, the effects of these trends are unclear in both sexes. We therefore characterized the neuropharmacological effects of adolescent JWH‐018 inhalation in male and female rats.
Nicholas Pintori +7 more
wiley +1 more source
Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency
Clinical Genetics, Volume 109, Issue 4, Page 784-787, April 2026.We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou +3 more
wiley +1 more source
Age-related changes of apoptotic cell death in human lymphocytes [PDF]
, 2006 Apoptosis seems to be involved in immunosenescence associated with aging. Moreover, in lymphocytes (PBL) of patients with Alzheimer's disease, an increased susceptibility to the apoptotic pathway has been described possibly due to impaired protection of ...
Eckert, Anne +3 more
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