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Results 21 - 30 of 32 for Cerebral degeneration
  1. ERCC2 gene 
    ... easily broken. Affected children may develop severe hip degeneration.Variants in this gene are the most common ... Paul SM, Hill SC, Kraemer KH. Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, ...
    https://medlineplus.gov/genetics/gene/ercc2 - Genetics
  2. SCN9A gene 
    ... signals degenerate over time. The cause of this degeneration is unknown, but it likely accounts for the ... H. Extending the clinical spectrum of pain channelopathies. Brain. 2012 Feb;135(Pt 2):313-6. doi: ...
    https://medlineplus.gov/genetics/gene/scn9a - Genetics
  3. HTT gene 
    ... Li XJ. Huntingtin and its role in neuronal degeneration. Neuroscientist. 2004 Oct;10(5):467-75. doi: ...
    https://medlineplus.gov/genetics/gene/htt - Genetics
  4. EXOSC3 gene 
    ... EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet. 2012 Apr 29;44(6):704- ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  5. MT-ATP6 gene 
    ... MTATP6 Su6m Tests of MT-ATP6 PubMed STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL ATP SYNTHASE 6; MTATP6 NCBI Gene ... mitochondrial ATP6 gene associated with NARP syndrome. Genes Brain Behav. 2013 Nov;12(8):812-20. doi: ...
    https://medlineplus.gov/genetics/gene/mt-atp6 - Genetics
  6. PNPLA6 gene 
    ... Straumann D, Synofzik M. Boucher-Neuhauser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics
  7. CHMP2B gene 
    ... C. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in ...
    https://medlineplus.gov/genetics/gene/chmp2b - Genetics
  8. SCN10A gene 
    ... axons) degenerate over time. The cause of this degeneration is unknown, but it likely accounts for signs ...
    https://medlineplus.gov/genetics/gene/scn10a - Genetics
  9. LRRK2 gene 
    ... interacts with parkin, and mutant LRRK2 induces neuronal degeneration. Proc Natl Acad Sci U S A. 2005 ...
    https://medlineplus.gov/genetics/gene/lrrk2 - Genetics
  10. ALMS1 gene 
    ... ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat Genet. 2002 May;31( ...
    https://medlineplus.gov/genetics/gene/alms1 - Genetics
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