14 results on '"Goizet, Cyril"'
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2. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
3. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
4. Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients
5. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment
6. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases
7. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5
8. Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment
9. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
10. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients
11. Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5
12. Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients
13. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
14. Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
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