Aysel Shirinova

Spinal Muscle Atrophy (SMA) in a 5 Years Old Girl from Macedonia: Case Report

Stefan Bittmann, Elisabeth Luchter, Lara Bittmann & Aysel Shirinova · Asian Journal of Pediatric Research · 2023

Spinal muscular atrophies are inherited diseases in which nerve cells in the spinal cord and brainstem regress, causing progressive muscle weakness and wasting. There are five main types of spinal muscular atrophy, which are classified according to the severity of muscle weakness...

Open access Research Article 10.9734/ajpr/2023/v13i3274

EFMR Syndrome: Epilepsy and Mental Retardation Restricted to Females in Childhood

Stefan Bittmann, Elisabeth Luchter, Elena Moschüring-Alieva, Lara Bittmann & Aysel Shirinova · Asian Journal of Pediatric Research · 2023

Epilepsy with intelligence impairment, restricted to the female sex, is a rare X-linked epilepsy syndrome. It is characterized by febrile or afebrile seizures, mainly tonic-clonic, but also absence, myoclonic, and atonic beginning in the first years of life. In most cases, develo...

Open access Research Article 10.9734/ajpr/2023/v13i3275