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Myelination is a complex, developmentally regulated process whereby myelin proteins and lipids are coordinately expressed by myelinating glial cells. …
Authors: Simon Edvardson, Hiroko Hama, Avraham Shaag, John Moshe Gomori, Itai Berger, Dov Soffer, Stanley H Korman, Ilana Taustein, Ann Saada, Orly Elpeleg
Source: American journal of human genetics. 2008 Nov
View Free Full TextHomozygosity mapping was performed in five patients from a consanguineous family who presented with infantile mitochondrial encephalomyopathy attribut…
Authors: Ann Saada, Simon Edvardson, Matan Rapoport, Avraham Shaag, Khaled Amry, Chaya Miller, Haya Lorberboum-Galski, Orly Elpeleg
Source: American journal of human genetics. 2008 Jan
View Free Full TextComplex I deficiency is the most common respiratory chain defect, clinically manifesting by severe neonatal lactic acidosis, Leigh's disease, or vario…
Authors: Itai Berger, Eli Hershkovitz, Avraham Shaag, Simon Edvardson, Ann Saada, Orly Elpeleg
Source: Annals of neurology. 2008 Mar
View Full TextHomozygosity mapping was performed in a consanguineous Sephardic Jewish family with three patients who presented with severe infantile encephalopathy …
Authors: Simon Edvardson, Avraham Shaag, Olga Kolesnikova, John Moshe Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, Orly Elpeleg
Source: American journal of human genetics. 2007 Oct
View Free Full TextFour patients, aged 7-20 years, suffered from recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis a…
Authors: Ronen Spiegel, Avraham Shaag, Simon Edvardson, Hanna Mandel, Polina Stepensky, Stavit A Shalev, Yoseph Horovitz, Ophry Pines, Orly Elpeleg
Source: Annals of neurology. 2009 Jun 22
View Full TextIn two patients who presented at late infancy with hypotonia, nystagmus and ataxia, interspersed with acute episodes of encephalopathy, we identified …
Authors: Flora Barghuti, Khaled Elian, John Moshe Gomori, Avraham Shaag, Simon Edvardson, Ann Saada, Orly Elpeleg
Source: Molecular genetics and metabolism. 2008 May
View Full TextReferral letters to pediatric emergency departments (ED) may be an important source of information available to the emergency department staff. This m…
Authors: Simon Edvardson, Talya Dor
Source: Harefuah. 2008 Jul
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