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458 results on '"Garavaglia, B."'

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1. The Clinical Spectrum of ANO3—Report of a New Family and Literature Review

2. 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

5. Disorders of glycolysis and the pentose phosphate pathway

6. Exploring the Impact of PARK2 Mutations on the Total and Mitochondrial Proteome of Human Skin Fibroblasts

7. Cerebrospinal fluid neuropathological biomarkers in beta-propeller protein-associated neurodegeneration, with complicated parkinsonian phenotype

8. Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

9. Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

12. Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

13. EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

15. Towards the standardization of mitochondrial proteomics: the Italian mt-HPP initiative

20. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study

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

25. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis

26. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis

27. PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

28. Adult diagnosis of Cockayne syndrome

29. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

33. De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

34. Encephalopathies with intracranial calcification in children: clinical and genetic characterization

35. Corrigendum to “Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum” [Brain Dev. 41 (2019) 250–256]

38. KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

39. R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome

40. Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy

42. A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations

43. The role of gender in parkinson’s disease

44. ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

45. Towards the standardization of mitochondrial proteomics: the Italian mt-HPP initiative

46. Toward the Standardization of Mitochondrial Proteomics: The Italian Mitochondrial Human Proteome Project Initiative

47. De Novo Mutations in PDE1 0A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

48. Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation

49. Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

50. De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

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