Disease: Optic atrophy polyneuropathy deafness
- A case of hereditary motor and sensory neuropathy type I with optic atrophy, neural deafness and pyramidal tract signs
- A case of hereditary motor and sensory neuropathy with pyramidal tract sign, optic nerve atrophy and mental retardation
- A Novel PRPS1 Mutation in a Japanese Patient with CMTX5
- Charcot-Marie-Tooth disease. Clinical study in 45 patients
- Chronic cyanide poisoning in relation to blindness and tropical neuropathy
- Deafness in tropical nutritional ataxic neuropathy
- DOOR syndrome: clinical report, literature review and discussion of natural history
- EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome
- Familial opticoacoustic nerve degeneration and polyneuropathy
- Genetic Factors of Diabetes
- Hereditary deafness in man
- Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli)
- Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
- Mitochondriopathies
- Neurological disorders associated with cassava diet: a review of putative etiological mechanisms
- Neuropathy in Wolfram syndrome
- Neurotoxicity of cobalt
- New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient
- Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder
- Nutritional disorders in tropical neurology
- OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
- Optic atrophy, sensorineural deafness and sensory neuropathy
- Optic atrophy, sensorineural hearing loss and polyneuropathy--a case of sporadic Rosenberg-Chutorian syndrome
- Persistence of tropical ataxic neuropathy in a Nigerian community
- POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients
- Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign
- Strachan's syndrome: variation on a theme
- Survey of human mitochondrial diseases using new genomic/proteomic tools
- Thiamine deficiency and the etiology of tropical ataxic neuropathy
- Tropical amblyopia in Nigerians
- Tropical ataxic neuropathy - A century old enigma
- X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness