Yalda Nilipour

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Neuromuscular junctions (NMJs) are synapses that transmit impulses from motor neurons to skeletal muscle fibers leading to muscle contraction. Study of hereditary disorders of neuromuscular transmission, termed congenital myasthenic syndromes (CMS), has helped elucidate fundamental processes influencing development and function of the nerve-muscle synapse.(More)
Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the neuromuscular junction. A difficult to diagnose subgroup of CMS is characterised by proximal muscle weakness and fatigue while ocular and facial involvement is only minimal. DOK7 mutations have been identified as causing the disorder in(More)
Ovarian neoplasms are relatively rare in childhood and adolescence; only 5% to 8% of the cases are of sex cord stromal origin. Granulosa cell tumors are a group of estrogen producing sex cord stromal tumors of the ovary. They occur in 95% of the cases in adults, and only about 5% of the cases, which differ in histologic characteristics, are of juvenile(More)
In this study, a consanguineous family with progressive myoclonus epilepsy (PME) was clinically examined and molecularly investigated to determine the molecular events causing disease. Since exclusion of known genes indicated that novel genes causing PME still remained unidentified, homozygosity mapping, exome sequencing, as well as validation and(More)
OBJECTIVE Few studies exist on the demographics and trends of pediatric central nervous system (CNS) tumors in Iran. In this study, we retrospectively reviewed all cases with confirmed CNS tumors admitted to Mofid Pediatric Hospital, Tehran, Iran during the last 18 years. MATERIALS & METHODS Data on gender, age of diagnosis, pathologic classification and(More)
Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations. In this study, we report a novel GNE homozygous point mutation c.1834T>G that results in(More)
OBJECTIVE AND IMPORTANCE The sarcoglycanopathies (SGPs) are a subgroup of autosomal recessive limb girdle muscular dystrophies. They are caused by mutations in gamma, alpha, beta, and delta sarcoglycans (SGs) genes. Alpha-SGPs are the most frequent form of SGPs. Muscle biopsy studies in patients with SGPs have indicated that loss of one SG subunit leads to(More)
BACKGROUND As children comprise a considerable proportion of our population, the importance of local epidemiologic research and geographic and racial differences can't be disputed on childhood malignancies. METHODS In this descriptive retrospective study, we extensively reviewed the medical records of patients younger than 15 years of age, diagnosed with(More)
Introduction An 8-year-old Iranian girl was referred because she had progressive muscle weakness predominantly in lower limbs since about 2 years ago. She was not able to stand from a sitting position without help and had difficulty climbing stairs. She walked slowly and could not run like before. She had no complaint of dysphagia or dysphonia. She was born(More)