404 results on '"Breedveld, Guido"'
Search Results
2. Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation
3. A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease
4. Low prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study
5. Interactome mapping reveals a role for LRP10 in autophagy and NDFIP1-mediated alpha-synuclein secretion
6. PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability
7. LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
8. Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia
9. Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies
10. Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly
11. deCLUTTER2+ – a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes
12. Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
13. The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN
14. Disruption of a Long-Range Cis-Acting Regulator for Shh Causes Preaxial Polydactyly
15. CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability
16. LRP10 as a novel α-synuclein regulator in Lewy body diseases
17. deCLUTTER2+ – a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes
18. deCLUTTER2+pipeline to analyze calcium traces in a novel stem cell model for ventral midbrain patterned astrocytes
19. Segmental dystonia as the prominent phenotype resulting from a MICU1 splice variant in a new Indian case
20. Isolated Paroxysmal Non‐kinesigenic Dystonia Associated with Homozygous PDHB Variant in an Indian Family
21. A multiplex pedigree with pathologically confirmed multiple system atrophy and Parkinson’s disease with dementia
22. Isolated Paroxysmal Non-kinesigenic Dystonia Associated with Homozygous PDHB Variant in an Indian Family
23. Mutations in TMEM230 are not a common cause of Parkinsonʼs disease
24. An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate
25. Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease
26. AOPEPHomozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia
27. PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family
28. PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family
29. DNAJC6 Mutations Associated With Early-Onset Parkinsonʼs Disease
30. LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson's disease and dementia with Lewy bodies
31. LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson’s disease and dementia with Lewy bodies
32. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
33. Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred
34. Primary familial brain calcification: Genetic analysis and clinical spectrum
35. PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology
36. The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population
37. Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis
38. Proline-rich transmembrane protein 2 gene mutation in a sporadic paroxysmal kinesigenic dyskinesia
39. A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwan
40. Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil
41. Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia
42. Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia
43. Homozygous nonsense mutations in KIAA 1279 are associated with malformations of the central and enteric nervous systems
44. EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia
45. Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism
46. Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)
47. Primary familial brain calcification caused by MYORG mutations in an Italian family
48. Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family
49. LRP10 variants in Parkinson's disease and dementia with Lewy bodies in the South-West of the Netherlands
50. The Lrrk2 R1441c Mutation Is More Frequent Than G2019s in ParkinsonʼS Disease Patients From Southern Italy
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