نتایج جستجو برای: leigh disease

تعداد نتایج: 1491454  

Journal: :The American Journal of Human Genetics 2008

2010
Dhananjay Y Shrikhande Piyush Kalakoti MM Aarif Syed Kunal Ahya Gurmeet Singh

Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable. However, in most cases it presents as a progressive neurological disease with motor and intellectual developmental delay and signs and symptoms of brain stem and/or basal ganglia involvement. Rais...

Journal: :Brain : a journal of neurology 2014
Heidi Peters Nicole Buck Ronald Wanders Jos Ruiter Hans Waterham Janet Koster Joy Yaplito-Lee Sacha Ferdinandusse James Pitt

Two siblings with fatal Leigh disease had increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites that are features of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, a rare defect in the valine catabolic pathway associated with Leigh-like disease. However, this diagnosis was excluded by HIBCH sequencing and normal enzyme activity. In contrast to HIBCH deficiency,...

Journal: :Journal of medical genetics 2004
P Bénit A Slama F Cartault I Giurgea D Chretien S Lebon C Marsac A Munnich A Rötig P Rustin

Respiratory chain complex I deficiency represents a genetically heterogeneous group of diseases resulting from mutations in mitochondrial or nuclear genes. Mutations have been reported in 13 of the 14 subunits encoding the core of complex I (seven mitochondrial and six nuclear genes) and these result in Leigh or Leigh-like syndromes or cardiomyopathy. In this study, a combination of denaturing ...

Journal: :Books at Iowa 1976

2012
Rui Liu Meiyi Li Zhi-Ping Liu Jiarui Wu Luonan Chen Kazuyuki Aihara

Identifying a critical transition and its leading biomolecular network during the initiation and progression of a complex disease is a challenging task, but holds the key to early diagnosis and further elucidation of the essential mechanisms of disease deterioration at the network level. In this study, we developed a novel computational method for identifying early-warning signals of the critic...

Journal: :Lancet 1982
P K Thomas

2004
Ian Watson

Does increasing the minimum wage lead to employment losses? For many years most economists thought that the answer to this was a straightforward ‘yes’. However, research during the 1990s began to overturn this conventional wisdom and showed that increases in the minimum wage did not automatically lead to employment losses. A recent Australian study, by Leigh (2003), examined the impact of statu...

2000
Nicholas B. Suntzeff

The past ten years have seen a tremendous increase in the number of Type Ia supernovae discovered and in the quality of the basic data presented. The cosmological results based on distances to Type Ia events have been spectacular, leading to statistically accurate values of the Hubble constant and ΩM and ΩΛ. However, in spite of the recent advances, a number of mysteries continue to remain in o...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید