نتایج جستجو برای: merrf

تعداد نتایج: 762  

Journal: :Human molecular genetics 2013
Sophie Monnot David C Samuels Laetitia Hesters Nelly Frydman Nadine Gigarel Philippe Burlet Violaine Kerbrat Frédéric Lamazou René Frydman Alexandra Benachi Josué Feingold Agnes Rotig Arnold Munnich Jean-Paul Bonnefont Julie Steffann

Mitochondrial DNA (mtDNA) content is thought to remain stable over the preimplantation period of human embryogenesis that is, therefore, suggested to be entirely dependent on ooplasm mtDNA capital. We have explored the impact of two disease-causing mutations [m.3243A>G myopathy, encephalopathy, lactic acidosis and stroke-like syndrome (MELAS) and m.8344A>G myoclonic epilepsy associated with rag...

Journal: :Neurology India 2002
M M Mehndiratta P Agarwal M Tatke M Krishnamurthy

The mitochondrial cytopathies are genetically and phenotypically heterogeneous group of disorders caused by structural and functional abnormalities in mitochondria. To the best of our knowledge, there are very few studies published from India till date. Selected and confirmed fourteen cases of neurological mitochondrial cytopathies with different clinical syndromes admitted between 1997 and 200...

ژورنال: :genetics in the 3rd millennium 0
مسعود هوشمند فاطمه شریف پناه

میتوکندری قبل از سال 1900 شناخته شد. در فواصل سال های 1850-1886 سیتولوژیست های مختلفی توانستند میتوکندری را مشاهده کنند

2017
Agostino Iadicicco Domenico Paladino Pierluigi Pilla Stefania Campopiano Antonello Cutolo Andrea Cusano

Journal: :Molecular genetics and metabolism reports 2016
E Keilland C A Rupar Asuri N Prasad K Y Tay A Downie C Prasad

m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (> 7 years) and management in a Caucasian family with ME...

Journal: :Applied optics 1971
D Gloge

Optical signals transmitted through cladded glass fibers are subject to delay distortion because of (1) dispersion in the material, (2) dispersion caused by the waveguide characteristic, and (3) delay differences between modes. We isolate these effects and evaluate their significance for cases of practical interest. These concern fibers in which the refractive index of the cladding is only slig...

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