نتایج جستجو برای: ataxia

تعداد نتایج: 17853  

Journal: :Arquivos De Neuro-psiquiatria 2023

Background: Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare, immune-mediated neurological disorder that usually starts in the second year of life. The triad signs composed opsoclonus, and ataxia. In addition, there often irritability sleep disturbance. about 50% children an underlying neuroblastoma.

Journal: :iranian journal of child neurology 0
mohammad mehdi heidari* 1. department of biology, school of sciences, yazd university, yazd, iran mehri khatami 1. department of biology, school of sciences, yazd university, yazd, iran jafar pourakrami 2. department of biology, faculty of sciences, science and research branch of the islamic azad university, tehran, iran.

how to cite this article: heidari mm , khatami m, pourakrami j. novel point mutations in frataxin gene in iranian patients with friedreich’s ataxia. iran j child neurol. 2014 winter; 8(1):32-36.   objective friedreich’s ataxia is the most common form of hereditary ataxia with autosomal recessive pattern. more than 96% of patients are homozygous for gaa repeat extension on both alleles in the fi...

Journal: :iranian journal of child neurology 0
reza shervin badv 1. pediatric neurologist, department of pediatrics, zanjan university of medical sciences, zanjan, iran ali niksirat 2. legal medicine research center, legal medicine organization, tehran, iran

how to cite this article: shervin badv r, niksirat a. downward vertical gaze palsy as a prominent manifestation of episodic ataxia type 2: a case report. iran j child neurol. 2013 autumn; 7(4):58- 60.   objective episodic ataxia type 2 (ea2) is an inherited autosomal dominant disorder characterized by intermittent ataxia, nausea, vomiting, dysarthria, or nystagmus. we report a case of ea2, whic...

Journal: :iranian journal of child neurology 0
s. etemad ahari msc. student , islamic azad university m. houshmand assistant professor of human genetic, national research center of genetic engineering and biotechnology (nigeb) s. kasraie msc. student , islamic azad university m. moin md,phd, professor of immunology," immunology, asthma & allergy research institute", tehran university of medical sciences m.a. bahar md,phd, professor of microbiology, islamic azad university m. shafa shariat panahi msc, national research center of genetic engineering and biotechnology (nigeb)

objective mitochondrial dna (mtdna) is considered a candidate modifier factor for neuro-degenerative disorders. the most common type of ataxia is friedreich's ataxia (fa). the aim of this study was to investigate different parts of mtdna in 20 iranian fa patients and 80 age-matched controls by polymerase chain reaction (pcr) and automated dna sequencing methods to find any probable point mutati...

Journal: :iranian journal of neurology 0
salman mansoor fcps trainee neurology, shifa international hospital islamabad, department of neurology, islamabad, pakistan arsalan ahmad consultant neurologist, department of neurology, shifa international hospital, islamabad, pakistan

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Journal: :Frontiers in Human Neuroscience 2021

Ataxia is a kind of external characteristics when the human body has poor coordination and balance disorder, it often indicates diseases in certain parts body. Many internal factors may causing ataxia; currently, observed characteristics, combined with Doctor’s personal clinical experience play main roles diagnosing ataxia. In this situation, different kinds be confused, leading to delay treatm...

Journal: :iranian biomedical journal 0
محمد حسین صالحی mohammad hossein salehi مسعود هوشمند massoud houshmand امید آریانی omid aryani بهنام کمالی دهقان behnam kamalidehghan الهام خلیلی elham khalili

background: friedreich ataxia (frda) is an autosomal recessive disorder caused by guanine-adenine-adenine (gaa) triplet expansions in the fxn gene. its product, frataxin, which severely reduces in frda patients, leads to oxidative damage in mitochondria. the purpose of this study was to evaluate the triple nucleotide repeated expansions in iranian frda patients and to elucidate distinguishable ...

Journal: :Immunopatologiâ, allergologiâ, infektologiâ 2022

Purpose. Evaluate the diagnostic significance of quantitative determination T- and B-cell receptor DNA ring fragments in peripheral blood patients for diagnosis ataxia-teleangiectasia. Materials methods. The subjects study were samples from 14 diagnosed with ataxia-teleangiectasia aged 4.9 (1.6; 14.4) years mutations ATM gene 40 healthy children 11.0 (6.7; 14.8) years. Results discussion. Patie...

Journal: :iranian journal of child neurology 0
mohsen javadzadeh 1. pediatric neurology research center, shahid behesti university of medical sciences, tehran, iran 2. department of pediatric neurology, pediatric neurology center of excellence, mofid children hospital, faculty of medicine, shahid behesti university of medical sciences, tehran, iran

pls see pdf.

Journal: :Vojnosanitetski Pregled 2023

Introduction. Friedreich?s ataxia (FA) is an autosomal recessive neurodegenerative disease. Ataxia, as the cardinal symptom, affects trunk, with swaying, imbalance, and falls, well limbs, increasing difficulty in activities of daily living. Physical therapy has been recognized a means managing physical symptoms maximizing function affected persons. To our knowledge, there are no studies that ha...

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