نتایج جستجو برای: leigh disease

تعداد نتایج: 1491454  

2013
Jessica Leigh Robertson

Leptopilina Parasitoid Wasps, Ion Channels, and Dendritic Morphology in Drosophila Nociception Paradigms by Jessica Leigh Robertson Department of Cell Biology Duke University Date:_______________________ Approved: ___________________________ W. Daniel Tracey, Supervisor ___________________________ Fan Wang ___________________________ Scott Soderling ___________________________ Wolfgang Liedtke ...

2006
Massimo Della Valle

We review the observational status of the supernova/gamma-ray burst connection. Present data suggest that SNe associated with GRBs form a heterogeneous class of objects including both bright and faint hypernovae and perhaps also ‘standard’ Ib/c events. Evidence for association with other types of core-collapse SNe (e.g. IIn) is much weaker. After combining the local GRB rate with the local SN-I...

2007
Mark Strovink

B-band light-curve rise times for eight unusually well-observed nearby Type Ia supernovæ (SNe) are fitted by a newly developed template-building algorithm, using light-curve functions that are smooth, flexible, and free of potential bias from externally derived templates and other prior assumptions. From the available literature, photometric BVRI data collected over many months, including the e...

Journal: :Journal of medical genetics 2003
M Chol S Lebon P Bénit D Chretien P de Lonlay A Goldenberg S Odent L Hertz-Pannier C Vincent-Delorme V Cormier-Daire P Rustin A Rötig A Munnich

Leigh syndrome is a subacute necrotising encephalomyopathy frequently ascribed to mitochondrial respiratory chain deficiency. This condition is genetically heterogeneous, as mutations in both mitochondrial (mt) and nuclear genes have been reported. Here, we report the G13513A transition in the ND5 mtDNA gene in three unrelated children with complex I deficiency and a peculiar MRI aspect distinc...

Journal: :The American Historical Review 2021

Journal: :The Pan African medical journal 2015
Leila Mnif Rim Sellami Jawaher Masmoudi

Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to "cytochrome c oxidase deficiency". Few psychiatric disorders have been defined that are associated with Leigh syndrome. The objective of this work is to study relations between mitochondrial dysfunction and psychiatric disorders. It was a 20 year old male patient, who received Modopar, for severe extra pyramidal symptoms cau...

2004
Filippo M. Santorelli Enrico Bertini

Keywords Disease name and synonyms Diagnostic criteria/definition Differential diagnosis Etiology Clinical description Diagnostic methods Genetic counseling Prenatal diagnosis Management Unresolved questions References Abstract The syndrome of Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) is clinically heterogeneous but it is often characterized by a combination of sensory-motor neuropath...

Journal: :Annals of neurology 2004
Marieke J H Coenen Lambert P van den Heuvel Cristina Ugalde Marike Ten Brinke Leo G J Nijtmans Frans J M Trijbels Skadi Beblo Esther M Maier Ania C Muntau Jan A M Smeitink

We report a cytochrome c oxidase (COX)-deficient patient, clinically affected with Leigh-like disease, with a homozygous mutation in the COX10 start codon. Two-dimensional gel electrophoresis showed a decrease of fully assembled COX without the accumulation of partially assembled COX subcomplexes. Western blot analysis with antibodies directed to COX subunits I, II, and IV showed a decrease of ...

Journal: :Practical neurology 2017
Christopher J McDermott Christina Faull

Neurological rarities 392 Relapsing cerebral amyloid angiopathy-related inflammation: the wax and the wane S Salam, M Anandarajah, S Al-Bachari, P Pal, J Sussman, H Hamdalla 396 Late-onset Tay–Sachs disease A W Barritt, S J Anderson, P N Leigh, B H Ridha 400 Ictal pain in focal non-convulsive status epilepticus S Casciato, A Morano, J Fattouch, M Fanella, M Albini, A T Giallonardo, C Di Bonaven...

Journal: :Annals of Indian Academy of Neurology 2007

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