36 results on '"Sue, Carolyn M."'
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2. Mitochondrial diseases
3. EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
4. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
5. Charcot-Marie-Tooth Disease Type 1
6. Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
7. Neurofibromatosis Type 1
8. Myoclonus Epilepsy and Ragged Red Fiber (MERRF)
9. Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Syndrome
10. Incidental Findings in Genetic Testing
11. Huntington Disease
12. Hereditary Neuropathy with Liability to Pressure Palsies
13. Inherited Prion Diseases
14. Dopa-Responsive Dystonia
15. Coincidental Occurrence of Two Monogenic Disorders
16. The Myotonic Dystrophies
17. Leber Hereditary Optic Neuropathy
18. Sialidosis
19. Spinocerebellar Ataxia Type 2
20. Recessive Parkinson Disease
21. Dominant Parkinson Disease
22. Frontotemporal Dementia—Amyotrophic Lateral Sclerosis Syndrome
23. POLG-Related Mitochondrial Disease
24. Gaucher Disease and Parkinson Disease
25. Paroxysmal Dyskinesia
26. Direct-to-Consumer Genetic Testing
27. Friedreich Ataxia
28. Myoclonus-Dystonia
29. Spinocerebellar Ataxia Type 17
30. Neurodegeneration with Brain Iron Accumulation
31. The Dystrophinopathies
32. Facioscapulohumeral Dystrophy
33. Early-Onset Dystonia
34. Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Syndrome
35. Hereditary Spastic Paraplegia
36. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
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