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PLEKHG4 gene

Known as: DKFZP434I216, pleckstrin homology and RhoGEF domain containing G4, puratrophin-1 
 
National Institutes of Health

Papers overview

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2013
2013
Background: Plekhg4 is putative guanine nucleotide exchange factor associated with autosomal dominant spinocerebellar ataxia… Expand
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2011
2011
Dominant optic atrophy (DOA) is genetically heterogeneous and pathogenic mutations have been identified in the OPA1 and OPA3… Expand
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2010
2010
Spinocerebellar ataxia type 31 (SCA31) is a recently defined subtype of autosomal dominant cerebellar ataxia (ADCA) characterized… Expand
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2010
2010
DFNB89 is a novel autosomal recessive nonsyndromic hearing impairment (ARNSHI) locus that was mapped to 16q21-q23.2. Linkage to… Expand
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2008
2008
. 2006).An epidemiological study found that SCA10 sub-type, first reported in individuals of Mexican ances-try with ataxia, was… Expand
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2008
2008
JO N 2 77 1 C-to-T change resulted in reduced expression level of the gene. The puratrophin-1 protein was also shown to be… Expand
2007
2007
s / Neuroscience Research 58S (2007) S1–S244 S17 S2A-J5 A new autosomal dominant cerebellar ataxia linked to chromosome 16q22.1… Expand
2007
2007
  • H. Mizusawa
  • Neuroscience Research
  • 2007
  • Corpus ID: 53184564
s / Neuroscience Research 58S (2007) S1–S244 S17 S2A-J5 A new autosomal dominant cerebellar ataxia linked to chromosome 16q22.1… Expand
2006
2006
AbstractAutosomal dominant cerebellar ataxia (ADCA) is a genetically heterogeneous group of neurodegenerative disorders with… Expand
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Highly Cited
2005
Highly Cited
2005
Autosomal dominant cerebellar ataxia (ADCA) is a group of heterogeneous neurodegenerative disorders. By positional cloning, we… Expand