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Your search keyword '"T Maisonobe"' showing total 15 results

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15 results on '"T Maisonobe"'

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1. Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis.

2. Motor neuron pathology in CANVAS due to RFC1 expansions.

3. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.

4. Anti-Jo-1 antibody-positive patients show a characteristic necrotizing perifascicular myositis.

5. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

6. A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.

7. Long-term observational study of sporadic inclusion body myositis.

8. Shared blood and muscle CD8+ T-cell expansions in inclusion body myositis.

9. Follow-up study and response to treatment in 23 patients with Lewis-Sumner syndrome.

10. A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.

11. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.

12. Does primary lateral sclerosis exist? A study of 20 patients and a review of the literature.

13. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

14. Central nervous system disease in patients with macrophagic myofasciitis.

15. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

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