Neuropathy ataxia and retinis pigmentosa

Known as: Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa, Neuropathy ataxia and retinitis pigmentosa, Neuropathy, Ataxia and Retinitis Pigmentosa (NARP syndrome) 
 

Topic mentions per year

Topic mentions per year

1994-2017
02419942017

Papers overview

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2013
2013
The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the… (More)
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2013
2013
Mutations in the ATP6 gene are reported to be associated with Leber hereditary optic neuropathy, bilateral striatal necrosis… (More)
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2012
2012
Mutations in mitochondrial DNA (mtDNA) encoded nucleotide 8993 can cause NARP syndrome (neuropathy, ataxia, and retinitis… (More)
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2010
2010
Point mutations at m.8993T>C and m.8993T>G of the mtDNA ATPase 6 gene cause the neurogenic weakness, ataxia and retinitis… (More)
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2010
2010
Mitochondrial diseases originate from mutations in mitochondrial or nuclear genes encoding for mitochondrial proteome. Neurogenic… (More)
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2009
2009
BACKGROUND Neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome have been associated to m.8993T>G/C… (More)
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2007
2007
BACKGROUND Mitochondrial DNA (mtDNA) mutations cause a wide range of serious genetic diseases with maternal inheritance. Because… (More)
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2001
2001
Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome and maternally inherited Leigh's syndrome have been associated with… (More)
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2000
2000
 
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1999
1999
AIMS Description of the ophthalmic manifestations of the NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome that is… (More)
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