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27 results on '"De Carvalho, Mamede"'

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1. Demographic changes in a large motor neuron disease cohort in Portugal: a 27 year experience.

2. Trends in the diagnostic delay and pathway for amyotrophic lateral sclerosis patients across different countries.

3. Delayed Diagnosis and Diagnostic Pathway of ALS Patients in Portugal: Where Can We Improve?

4. Societal costs and burden of hereditary transthyretin amyloidosis polyneuropathy.

5. No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland.

6. Family history of neurodegenerative disorders in patients with amyotrophic lateral sclerosis: population-based case-control study.

7. C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal.

9. Thyroid dysfunction in Portuguese amyotrophic lateral sclerosis patients.

10. Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.

11. Clinical characteristics in young-adult ALS - results from a Portuguese cohort study.

12. A comparative study of South African and Portuguese amyotrophic lateral sclerosis cohorts.

14. Family history of neurodegenerative disorders in patients with amyotrophic lateral sclerosis: population-based case-control study.

15. VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease.

16. Very late-onset amyotrophic lateral sclerosis in a Portuguese cohort.

17. Frequency of C9orf72 hexanucleotide repeat expansion and SOD1 mutations in Portuguese patients with amyotrophic lateral sclerosis.

18. Epidemiology of Transthyretin Familial Amyloid Polyneuropathy in Portugal: A Nationwide Study.

19. Primary lateral sclerosis: predicting functional outcome.

20. Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation.

21. Implementation of a wireless device for real-time telemedical assistance of home-ventilated amyotrophic lateral sclerosis patients: a feasibility study.

22. Proteomic analysis of plasma from Portuguese patients with familial amyotrophic lateral sclerosis.

23. Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal.

24. Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies.

25. Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies.

26. Clinical and therapeutic implications of presymptomatic gene testing for familial amyloidotic polyneuropathy (FAP).

27. Nocturnal pulse oximetry: a new approach to establish the appropriate time for non-invasive ventilation in ALS patients.

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