Publications by authors named "Sana Rebbah"
Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson's disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and investigated for their effect on phenotype.
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- Optic nerve head edema (ONHE) is commonly found in patients with optic neuritis (ON) and its connection to MRI abnormalities is not well understood, prompting this study to examine how effectively T2 FLAIR MRI can identify ONHE in acute ON cases.
- This study analyzed data from 102 patients with acute ON and found a high agreement (92%) between MRI findings and fundus photography, indicating that MRI can reliably detect ONHE.
- The research concluded that T2 FLAIR MRI is a sensitive and specific method for diagnosing ONHE, which can aid in the assessment of patients with optic neuritis.
Symptom comorbidity is present amongst neuropsychiatric disorders with repetitive behaviours, complicating clinical diagnosis and impeding appropriate treatments. This is of particular importance for obsessive-compulsive disorder (OCD) and Tourette syndrome. Here, we meticulously analysed the behaviour of Sapap3 knockout mice, the recent rodent model predominantly used to study compulsive-like behaviours, and found that its behaviour is more complex than originally and persistently described.
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