Neurodegeneraci%C3%B3_associada_a_pantotenat-cinasaCategory:Pantothenate_kinase-associated_neurodegenerationPantothenatkinase-assoziierte_NeurodegenerationPantothenate_kinase-associated_neurodegenerationNeurodegeneraci%C3%B3n_asociada_a_pantotenato_quinasaNeurod%C3%A9g%C3%A9nerescence_associ%C3%A9e_%C3%A0_la_pantoth%C3%A9nate_kinaseNeurodegenerazione_associata_alla_pantotenato_chinasiSyndroom_van_Hallervorden-SpatzPantotenate_kinase-assosiert_nevrodegenerativ_sykdomNeurodegeneracja_zwi%C4%85zana_z_kinaz%C4%85_pantotenianuNeurodegenera%C3%A7%C3%A3o_associada_a_pantotenato_quinase%D0%91%D0%BE%D0%BB%D0%B5%D0%B7%D0%BD%D1%8C_%D0%93%D0%B0%D0%BB%D0%BB%D0%B5%D1%80%D0%B2%D0%BE%D1%80%D0%B4%D0%B5%D0%BD%D0%B0_%E2%80%94_%D0%A8%D0%BF%D0%B0%D1%82%D1%86%D0%B0Pantothenate_kinase-associated_neurodegenerationQ1436162
about
Imaging Neuromelanin and Iron in Dystonia/ParkinsonismEfficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)NBIAready: Online Collection of Natural History Patient-reported Outcome MeasuresLong-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated NeurodegenerationFerrochelating Treatment in Patients Affected by Neurodegeneration With Brain Iron Accumulation (NBIA)Efficacy and Safety Study of Fosmetpantotenate (RE-024) in PKAN PatientsBrain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)Compassionate Use of Deferiprone in Patients With PKANCoA-Z in Pantothenate Kinase-associated Neurodegeneration (PKAN)
P1050
P2293
P5166
A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effectNovel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegenerationDeprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegenerationInduction of Neuron-Specific Degradation of Coenzyme A Models Pantothenate Kinase-Associated Neurodegeneration by Reducing Motor Coordination in MiceHARP syndrome is allelic with pantothenate kinase-associated neurodegenerationAn isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondriaClinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegenerationThe diverse phenotype and genotype of pantothenate kinase-associated neurodegenerationMitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegenerationClinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegenerationPantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase genePantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse modelAn isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondriaA new in vivo model of pantothenate kinase-associated neurodegeneration reveals a surprising role for transcriptional regulation in pathogenesisDeep brain stimulation for pantothenate kinase-associated neurodegeneration.Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome).Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name.Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegenerationA variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - IndiaPantothenate kinase-associated neurodegeneration.Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegenerationPantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).Efficacy of botulinum toxin A treatment in a case of pantothenate kinase associated neurodegeneration (PKAN).Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegenerationNeuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)First report of co-morbidity of pantothenate kinase-associated neurodegeneration and three types of chronic hemolytic anemias.Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.Treatment of classic pantothenate kinase-associated neurodegeneration with deferiprone and intrathecal baclofen.Pantothenate kinase-associated neurodegeneration is not a synucleinopathyNovel homozygous PANK2 mutation identified in a consanguineous Chinese pedigree with pantothenate kinase-associated neurodegeneration.Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.Efficacy and safety of deferiprone for the treatment of pantothenate kinase-associated neurodegeneration (PKAN) and neurodegeneration with brain iron accumulation (NBIA): results from a four years follow-up.Anesthesia for patients with pantothenate-kinase-associated neurodegeneration (Hallervorden-Spatz disease) - a literature review.A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration.Subthalamic Nuclei Stimulation in Patients With Pantothenate Kinase-Associated Neurodegeneration (PKAN).Eye-of-the-Tiger sign is not Pathognomonic of Pantothenate Kinase-Associated Neurodegeneration in Adult Cases.Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.
P921
Q63397234-CD322085-760D-4EBD-B0EA-B8FE48A69EBCQ64170781-192FD36A-9E90-42E0-8539-CBA67F40459BQ64217324-3772A0F2-03CA-4DF8-8742-2A6E1F1B7FA0Q64611566-6E3D5BC3-2F23-4C1B-B09B-C1B5859CB1CCQ64675644-D5A78B3A-F59C-4BE3-8E54-C7E569C1235DQ66074678-5F66E03E-5D1E-4591-ABEF-B646A4A68AA8Q66343748-8C46C5E1-1B92-4BF7-8BD4-65EBD8112BB4Q66409920-48D6A95F-8D91-4020-9043-0DEAB959290CQ79109611-219056DF-A6AE-4092-81A3-77FCC9A84744
P1050
description
A neurodegeneration with brain ...... ANK2 gene on chromosome 20p13.
@en
Krankheit
@de
dégénérescence cérébrale par accumulation de fer dans les noyaux gris centraux
@fr
malattia autosomica recessiva, ...... ata da degenerazione cerebrale
@it
name
Choroba Hallervordena-Spatza
@pl
Neurodegeneration mit Eisenablagerung im Gehirn
@de
Pantotenate kinase-assosiert nevrodegenerativ sykdom
@nb
Syndroom van Hallervorden-Spatz
@nl
neurodegeneració associada a pantotenat-cinasa
@ca
neurodegeneración asociada a pantotenato quinasa
@es
neurodegeneração associada a pantotenato quinase
@pt
neurodégénerescence associée à la pantothénate kinase
@fr
pantothenate kinase-associated neurodegeneration
@en
sindrome di Hallervorden-Spatz
@it
type
label
Choroba Hallervordena-Spatza
@pl
Neurodegeneration mit Eisenablagerung im Gehirn
@de
Pantotenate kinase-assosiert nevrodegenerativ sykdom
@nb
Syndroom van Hallervorden-Spatz
@nl
neurodegeneració associada a pantotenat-cinasa
@ca
neurodegeneración asociada a pantotenato quinasa
@es
neurodegeneração associada a pantotenato quinase
@pt
neurodégénerescence associée à la pantothénate kinase
@fr
pantothenate kinase-associated neurodegeneration
@en
sindrome di Hallervorden-Spatz
@it
altLabel
Hallervorden-Spatz disease
@en
Hallervorden-Spatz syndrome
@en
NBIA1
@en
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1
@en
Neurodegeneracion asociada a pantotenato quinasa
@es
Neurodegeneration With Brain Iron Accumulation type 1
@en
PKAN
@en
Pantothenate Kinase-Associated Neurodegeneration
@en
Pigmentary pallidal degeneration
@en
Pkan Neuroaxonal Dystrophy, Juvenile-Onset
@en
prefLabel
Choroba Hallervordena-Spatza
@pl
Neurodegeneration mit Eisenablagerung im Gehirn
@de
Pantotenate kinase-assosiert nevrodegenerativ sykdom
@nb
Syndroom van Hallervorden-Spatz
@nl
neurodegeneració associada a pantotenat-cinasa
@ca
neurodegeneración asociada a pantotenato quinasa
@es
neurodegeneração associada a pantotenato quinase
@pt
neurodégénerescence associée à la pantothénate kinase
@fr
pantothenate kinase-associated neurodegeneration
@en
sindrome di Hallervorden-Spatz
@it
P1748
P279
P2888
P672
P2581
P486
P6366
P646
P1550
P1692
P1995
P2293
P2581
P279
P2892
P373
Pantothenate kinase-associated neurodegeneration