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266 results on '"Garavaglia B."'

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11. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain: Abstracts of Symposia and free communications

18. Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation

25. Mutation screening of the DYT6/THAP1 gene in Italy.

26. A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.

30. Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.

39. Determination of Ambroxol Levels in Plasma and Cerebrospinal Fluid by Online Solid-Phase Extraction Coupled with Liquid Chromatography-Tandem Mass Spectrometry in GBA-Parkinson Disease Patients.

42. Three-Dimensional In Vitro Cell Cultures as a Feasible and Promising Alternative to Two-Dimensional and Animal Models in Cancer Research.

43. Exploring the Impact of Sex and Gender in Brain Function: Implications and Considerations.

44. WDR45-dependent impairment of cell cycle in fibroblasts of patients with beta propeller protein-associated neurodegeneration (BPAN).

46. Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation.

48. Illustration of the long-term efficacy of pallidal deep brain stimulation in a patient with PKAN dystonia.

50. CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.

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