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22 results on '"Igor Braga Farias"'

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1. Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

2. MR imaging of inherited myopathies: a review and proposal of imaging algorithms

3. Clinical and radiological profile of patients with spinal muscular atrophy type 4

4. Late adult-onset Hereditary Sensory and Motor Neuropathy due to TECPR2 mutations

5. Hereditary inclusion body myopathy: a clinical and genetic review

6. Atrofia muscular espinhal não-5q proximal de início no adulto: uma revisão abrangente

7. Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations

8. Motor neuron disease with leukodystrophy due to CSF1R mutation

9. Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing

10. Porfirias hepáticas agudas para o neurologista: conceitos atuais e perspectivas

11. The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients

12. GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes

13. Teaching NeuroImages: Hopkins syndrome: A rare differential diagnosis of neurogenic monomelic amyotrophy

14. SPG76: An extremely rare hereditary spastic paraplegia with a new expanding complicated phenotype

15. Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND)

16. Neuromuscular choristoma: a rare cause of congenital non-progressive lower limb amyotrophy

17. Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy

18. Adult-onset cerebral X-linked adrenoleukodystrophy presenting as obsessive-compulsive disorder

19. Pseudoxanthoma elasticum presenting as akinetic-rigid parkinsonism and dementia

20. Leukodystrophy with disorders of sex development due to WT1 mutations

21. A complex association of cardiomyopathy, mild dysmorphisms and leukoencephalopathy

22. Paraneoplastic motor neuronopathy and malignant acanthosis nigricans

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