Documentos relacionados

1. Distal symmetric polyneuropathy phenotype in patients with sensory neuronopathy at the time of electrodiagnosis.
2. The loss of enzymatic activity of the PHARC-associated lipase ABHD12 results in increased phagocytosis that causes neuroinflammation.
3. Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome.
4. Peripheral polyneuropathy in children and young adults with ataxia-telangiectasia.
5. Pyridoxine-induced sensory ataxic neuronopathy and neuropathy: revisited.
6. CANOMAD syndrome with respiratory failure.
7. Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes.
8. A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.
9. Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC.
10. Intronic <i>FGF14</i> GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.