COQ7‐Related Neuropathy: Two New Cases and Review of the Literature
ABSTRACT Background and Aims Biallelic variants in COQ7 have been associated with inherited neuropathy. COQ7 encodes a mitochondrial protein directly involved in coenzyme Q10 (CoQ10) biosynthesis. Methods Two unreported and unrelated cases of COQ7‐related neuropathy are presented, along with a review of all previously published cases to highlight the ...
Julian Theuriet +13 more
wiley +1 more source
Spinal Epidural Empyema Associated with Bite Wounds in an Indian Crested Porcupine (<i>Hystrix indica</i>). [PDF]
Levy A +6 more
europepmc +1 more source
Pharmacological and device-based interventions for paraplegia: A ClinicalTrials.gov-based analysis. [PDF]
Alorfi NM +7 more
europepmc +1 more source
Unraveling the Dynamics of Oxytocin in Hypothalamic Neurons
Oxytocin (OT) plays an important role in regulating social behavior, and dysregulation of the oxytocinergic system leads to social impairments, such as autism spectrum disorder. Central OT release is poorly understood. Using live‐cell imaging to track vesicle trajectories, combined with machine learning‐based classification, the analysis reveals ...
Beatriz Aznar‐Escolano +6 more
wiley +1 more source
X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report. [PDF]
Chang MC, Yang S.
europepmc +1 more source
Abstract figure legend Central leptin signalling blockade induces early metabolic dysfunction. Intracerebroventricular infusion of a leptin receptor antagonist (SLA) in rats disrupts hypothalamic leptin signalling, leading to reduced signal transducer and activator of transcription 3 (STAT3) activation, decreased Socs3 and Pomc expression, and ...
Cristina Pintado +16 more
wiley +1 more source
Rapidly reversible paraplegia after coarctation repair in an infant: Potential reperfusion injury relieved by cerebrospinal fluid drainage. [PDF]
Addi M +7 more
europepmc +1 more source
Acute paediatric paraplegia: A case series review
Paediatric paraplegia resulting from spinal cord pathology of any cause is rare; hence prognostic information for children less than 16 years is limited.
Sharpe AN, Forsyth R
core
Homozygous PNPLA6 Mutation (p.Arg1183Trp) Associated With Isolated Cerebellar Ataxia: A Familial Case Report. [PDF]
Alawadhi A +3 more
europepmc +1 more source
Spastic Quadriplegia Resulting From a Pathogenic Variant in the <i>SPAST</i> Gene: A First Report. [PDF]
Kostopoulou E +5 more
europepmc +1 more source

