Iron

pantothenate kinase 2 ; Homo sapiens







78 Article(s)
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Pub. Year
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1 28613462 Hallervorden Spatz Disease 2022 Jan 4
2 35068370 Neuropsychological profile associated to PKAN in its initial phase: a case series report. 2022 Feb 2
3 35204826 A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2. 2022 Feb 18 5
4 35217637 Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype. 2022 Feb 25 3
5 35397396 Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene. 2022 May 1
6 35532650 Novel Compound Heterozygous Mutation in PANK2 in a Patient with an Atypical Form of Pantothenate Kinase Associated Neurodegeneration and His Family. 2022 Mar-Apr 3
7 34002881 Rational Design of Novel Therapies for Pantothenate Kinase-Associated Neurodegeneration. 2021 Sep 4
8 34286134 Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family. 2021 Jul 1
9 31738088 Neuropsychological functions and psychiatric symptoms in late-onset manifestation of pantothenate kinase-associated neurodegeneration: a clinical case report. 2020 May 2
10 32456086 Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration. 2020 May 22 4
11 32705819 PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes. 2020 Aug 1
12 33043782 PANK2 p.A170fs:a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family. 2020 Oct 14 2
13 30141000 Overexpression of Human Mutant PANK2 Proteins Affects Development and Motor Behavior of Zebrafish Embryos. 2019 Jun 1
14 30173408 Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation. 2019 May 1
15 30681573 Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration: A case report and review of Chinese cases. 2019 Jan 3
16 30804242 Precision medicine in pantothenate kinase-associated neurodegeneration. 2019 Jul 1
17 30978626 Disease-specific patterns of basal ganglia neuronal activity in Neurodegeneration with Brain Iron Accumulation type I (NBIA-1). 2019 Jun 1
18 31088771 Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration. 2019 Aug 3
19 31202468 Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study. 2019 Jul 1
20 31300018 Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration. 2019 Jul 12 1
21 31489256 Neurodegeneration with Brain Iron Accumulation: Two Additional Cases with Dystonic Opisthotonus. 2019 1
22 31660701 4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN. 2019 Dec 2
23 29765892 Botulinum Toxin-A Injection in the Treatment of Spasticity in a Infantile-Onset Neurodegeneration With Brain Iron Accumulation: A Case Report. 2018 Apr 4
24 30221726 Silencing of pantothenate kinase 2 reduces endothelial cell angiogenesis. 2018 Nov 1
25 28456385 Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN. 2017 Jun 2
26 28680084 A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India. 2017 Jul 5 3
27 28863176 iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease. 2017 1
28 29619158 A pilot trial of deferiprone in pantothenate kinase-associated neurodegeneration patients. 2017 Dec 11 6
29 30713952 Panthotenate Kinase-Associated Neurodegeneration Has a Founder Mutation (c.215_216insa) in Indian Agrawal Patients. 2017 Jan-Feb 3
30 26740874 First report of co-morbidity of pantothenate kinase-associated neurodegeneration and three types of chronic hemolytic anemias. 2016 Feb 3
31 26828840 Optic Atrophy in a Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration. 2016 Jun 2
32 24712887 Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration. 2015 Mar 3
33 25896138 Intrathecal morphine therapy in the management of status dystonicus in neurodegeneration brain iron accumulation type 1. 2015 2
34 25915509 Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic. 2015 2
35 24655737 Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family. 2014 May 15 5
36 30363918 7-Tesla Magnetic Resonance Imaging for Brain Iron Quantification in Homozygous and Heterozygous PANK2 Mutation Carriers. 2014 Dec 6
37 22416811 Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. 2013 Feb 3
38 23166001 PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. 2013 Feb 1
39 23634310 Late onset atypical pantothenate-kinase-associated neurodegeneration. 2013 2
40 23891537 Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration. 2013 Nov 1
41 24075960 A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration. 2013 Nov 1
42 24098554 Alterations of red cell membrane properties in neuroacanthocytosis. 2013 2
43 20619503 Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. 2012 Apr 2
44 21999968 Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation. 2012 Jun 2
45 22057405 Transcranial sonography in pantothenate kinase-associated neurodegeneration. 2012 May 1
46 22127788 Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN). 2012 Apr 1
47 22221393 Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations. 2012 Mar 2
48 22515741 Pantothenate kinase-associated neurodegeneration. 2012 Aug 3
49 22692681 Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties. 2012 Sep 15 7
50 22991317 Two forms of iron as an intrinsic contrast agent in the basal ganglia of PKAN patients. 2012 Nov-Dec 5