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Results 1 - 10 of 19 for Axonal loss
  1. ... gene have been identified in people with giant axonal neuropathy, an inherited disorder that causes gradually worsening loss of movement and sensation. Giant axonal neuropathy is ...
  2. ... VM, Janecke AR, De Jonghe P, Jordanova A. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet. 2012 Oct;44( ...
  3. ... in the giant axons of people with giant axonal neuropathy. These giant axons do not transmit signals properly and eventually deteriorate, resulting in the death of neurons. The loss of nerve cells leads to problems with walking ...
  4. ... VM, Janecke AR, De Jonghe P, Jordanova A. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet. 2012 Oct;44( ...
  5. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the ...
  6. ... one kidney to develop (unilateral renal agenesis), hearing loss, and mirror movements of the hands (bimanual synkinesia). ...
  7. ... apraxia and hypoalbuminemia SCAN2 SCAR1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia, recessive, non-Friedreich ... Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Ataxia-oculomotor apraxia 3 Ataxia-oculomotor ...
  8. ... diffusum NAGA deficiency Neuroaxonal dystrophy, Schindler type Neuronal axonal dystrophy, Schindler type Genetic Testing Registry: Alpha-N- ...
  9. ... atrophy type 1 DSMA1 HMN6 HMNVI Severe infantile axonal neuropathy with respiratory failure SIANRF SMARD1 Spinal muscular ...
  10. ... DEMYELINATING, TYPE 1B; CMT1B CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, ... AND SENSORY NEUROPATHY V CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B CHARCOT-MARIE-TOOTH DISEASE, TYPE ...
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