The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
about
The management of ticsA novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effectDeep brain stimulation for pantothenate kinase-associated neurodegeneration.Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.Cognitive impairment in "Other" movement disorders: hidden defects and valuable clues.A novel diagnostic approach to patients with myoclonus.Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.Novel compound heterozygous mutations in the pantothenate kinase 2 gene in a korean patient with atypical pantothenate kinase associated neurodegeneration.Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.Sleep in genetically confirmed pantothenate kinase-associated neurodegeneration: a video-polysomnographic study.Pallidal stimulation in atypical pantothenate kinase-associated neurodegeneration: six-year follow-up.Involvement of globus pallidus and midbrain nuclei in pantothenate kinase-associated neurodegeneration: measurement of T2 and T2* time.A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.Neurodegeneration with brain iron accumulation: A case report.All that glitters is not gold: When motor and vocal tics in a child do not match Tourette syndrome: A case report.Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN).
P2860
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P2860
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
description
2005 nî lūn-bûn
@nan
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
@ast
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
@en
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
@nl
type
label
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
@ast
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
@en
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
@nl
prefLabel
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
@ast
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
@en
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
@nl
P2093
P50
P1433
P1476
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
@en
P2093
Di Giorgio A
Pellecchia MT
P304
P356
10.1212/01.WNL.0000161843.52641.EC
P407
P577
2005-05-01T00:00:00Z