1 to 7 of 7 literature results

• Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

  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

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• C6ORF66 is an assembly factor of mitochondrial complex I.

  Homozygosity 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

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• Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

  Complex 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

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• Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.

  Homozygosity 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

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• SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

  Four 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

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• The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

  In 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

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• Referral letters to the pediatric emergency department

  Referral 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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