Parkin disease: a phenotypic study of a large case series.
about
Presynaptic Mechanisms of l-DOPA-Induced Dyskinesia: The Findings, the Debate, and the Therapeutic ImplicationsParkin is activated by PINK1-dependent phosphorylation of ubiquitin at Ser65Linking F-box protein 7 and parkin to neuronal degeneration in Parkinson's disease (PD)Deconvoluting the complexity of autophagy and Parkinson's disease for potential therapeutic purposeThe non-motor syndrome of primary dystonia: clinical and pathophysiological implicationsGenetics in Parkinson disease: Mendelian versus non-Mendelian inheritanceParkin-deficient mice are not a robust model of parkinsonism.Genetic diagnosis of two dopa-responsive dystonia families by exome sequencingPhenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control studyPsychosis in Parkinson's Disease: Epidemiology, Pathophysiology, and Management.The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson's Disease Owing Genetic and Anatomical Specificity.Pathway-specific dopaminergic deficits in a mouse model of Angelman syndromeParkin disease: a clinicopathologic entity?Movement disorders in adult surviving patients with maple syrup urine disease.Prevalence of anxiety disorders and anxiety subtypes in patients with Parkinson's disease.Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's diseaseHSPA1A-independent suppression of PARK2 C289G protein aggregation by human small heat shock proteinsBiochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity.The relationship between obsessive-compulsive symptoms and PARKIN genotype: The CORE-PD studyPARK2 patient neuroprogenitors show increased mitochondrial sensitivity to copperA Peruvian family with a novel PARK2 mutation: Clinical and pathological characteristicsGenetic testing in Parkinson's disease.Cognitive impairment and dementia in Parkinson's disease: clinical features, diagnosis, and management.Neuropsychological Profile of Parkin Mutation Carriers with and without Parkinson Disease: The CORE-PD Study.Clinical approach to Parkinson's disease: features, diagnosis, and principles of management.G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodiesCo-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutationsRecessive Parkinson's disease.Familial aggregation of panic disturbances in Parkinson's diseaseAnalysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's DiseaseCell therapy for Parkinson's disease: only young onset patients allowed? Reflections about the results of recent clinical trials with cell therapy and the progression of Parkinson's disease.Levodopa Responsiveness in Adult-onset Lower Limb Dystonia is Associated with the Development of Parkinson's DiseaseIdentifying the genetic components underlying the pathophysiology of movement disorders.The genetics of dystonias.Progress in the pathogenesis and genetics of Parkinson's disease.A multidisciplinary study of patients with early-onset PD with and without parkin mutations.Nonmotor symptoms in patients with Parkinson disease: A cross-sectional observational study.Cognitive and motor function in long-duration PARKIN-associated Parkinson disease.Variability in clinical phenotypes of heterozygous and homozygous cases of Parkin-related Parkinson's disease.Genetic mutations and mitochondrial toxins shed new light on the pathogenesis of Parkinson's disease.
P2860
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P2860
Parkin disease: a phenotypic study of a large case series.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Parkin disease: a phenotypic study of a large case series.
@en
Parkin disease: a phenotypic study of a large case series.
@nl
type
label
Parkin disease: a phenotypic study of a large case series.
@en
Parkin disease: a phenotypic study of a large case series.
@nl
prefLabel
Parkin disease: a phenotypic study of a large case series.
@en
Parkin disease: a phenotypic study of a large case series.
@nl
P2093
P50
P356
P1433
P1476
Parkin disease: a phenotypic study of a large case series.
@en
P2093
Anette E Schrag
Elizabeth Graham
Naheed L Khan
Peter Critchley
P304
P356
10.1093/BRAIN/AWG142
P407
P577
2003-06-01T00:00:00Z