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<meta name="keywords" content="C4021076, brain iron accumulation, brain iron deposition, finding, iron accumulation in brain, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An abnormal build up of iron (Fe) in brain tissue." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=866729
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ConceptID=C4021076
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Iron accumulation in brain</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866729</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4021076</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Brain iron accumulation</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012675">HP:0012675</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">An abnormal build up of iron (Fe) in brain tissue. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Iron accumulation in brain</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866738" ref="tree=MeSH" title="MedGen record for Abnormal brain morphology">Abnormal brain morphology</a></span><ul><li><span class="matched_ds">Iron accumulation in brain</span><ul><li><span class="TLline"><a href="/medgen/871224" ref="tree=MeSH" title="MedGen record for Eye of the tiger anomaly of globus pallidus">Eye of the tiger anomaly of globus pallidus</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_82852"><div><strong>Infantile neuroaxonal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82852</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0270724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82852">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_763887"><div><strong>Neurodegeneration with brain iron accumulation 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763887</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3550973</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Beta-propeller protein-associated neurodegeneration (BPAN) is typically characterized by early-onset seizures, infantile-onset developmental delay, intellectual disability, absent-to-limited expressive language, motor dysfunction (ataxia), and abnormal behaviors often similar to autism spectrum disorder. Seizure types including generalized (absence, tonic, atonic, tonic-clonic and myoclonic), focal with impaired consciousness, and epileptic spasms, as well as epileptic syndromes (West syndrome and Lennox-Gastaut syndrome) can be seen. With age seizures tend to resolve or become less prominent, whereas cognitive decline and movement disorders (progressive parkinsonism and dystonia) emerge as characteristic findings.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763887">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647672"><div><strong>Neurodegeneration with brain iron accumulation 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647672</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4693583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodegeneration with brain iron accumulation-7 (NBIA7) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis. Severity and rate of progression are variable (Drecourt et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647672">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645224"><div><strong>Neurodegeneration with brain iron accumulation 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645224</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4693587</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodegeneration with brain iron accumulation-8 (NBIA8) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis (Drecourt et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645224">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1845761"><div><strong>Neurodegeneration with brain iron accumulation 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845761</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5882740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodegeneration with brain iron accumulation-9 (NBIA9) is characterized by global developmental delay apparent from infancy and progressive neurodegeneration of motor and cognitive skills. Affected individuals have delayed walking or inability to walk, spasticity with hyperreflexia, ataxia, dystonia, and poor or absent language. Additional more variable features include dysphagia, failure to thrive, poor growth, microcephaly, hypotonia, impaired vision, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, iron accumulation in the basal ganglia, thin corpus callosum, and pontocerebellar hypoplasia. The disorder can be classified as a neuroferritinopathy (see NBIA3, 606159) (Shieh et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1845761">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82852" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile neuroaxonal dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763887" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647672" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645224" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1845761" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 9</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36164835">Atypical idiopathic NBIA (neurodegeneration with brain iron accumulation) associated with treatment-resistant bipolar mania responding to clozapine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patwal R,
|
||
Pai NM,
|
||
Ganjekar S,
|
||
Udupi GA,
|
||
M P,
|
||
M S,
|
||
Kesavan M,
|
||
Desai G</span><br />
|
||
<span class="medgenPMjournal">Bipolar Disord</span>
|
||
2022 Dec;24(8):840-843.
|
||
Epub 2022 Oct 6
|
||
doi: 10.1111/bdi.13262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36164835" target="_blank">36164835</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34347296">Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilson JL,
|
||
Gregory A,
|
||
Kurian MA,
|
||
Bushlin I,
|
||
Mochel F,
|
||
Emrick L,
|
||
Adang L;
|
||
BPAN Guideline Contributing Author Group,
|
||
Hogarth P,
|
||
Hayflick SJ</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2021 Dec;63(12):1402-1409.
|
||
Epub 2021 Aug 4
|
||
doi: 10.1111/dmcn.14980.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34347296" target="_blank">34347296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30501441">Neurologic conditions and disorders of uremic syndrome of chronic kidney disease: presentations, causes, and treatment strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamed SA</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Clin Pharmacol</span>
|
||
2019 Jan;12(1):61-90.
|
||
Epub 2019 Jan 11
|
||
doi: 10.1080/17512433.2019.1555468.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30501441" target="_blank">30501441</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(iron%20accumulation%20in%20brain)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (41)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35625641">Cerebral Iron Deposition in Neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dusek P,
|
||
Hofer T,
|
||
Alexander J,
|
||
Roos PM,
|
||
Aaseth JO</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2022 May 17;12(5)
|
||
doi: 10.3390/biom12050714.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35625641" target="_blank">35625641</a><a href="/pmc/articles/PMC9138489" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32401177">Molecular Physiology and Pathophysiology of Bilirubin Handling by the Blood, Liver, Intestine, and Brain in the Newborn.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hansen TWR,
|
||
Wong RJ,
|
||
Stevenson DK</span><br />
|
||
<span class="medgenPMjournal">Physiol Rev</span>
|
||
2020 Jul 1;100(3):1291-1346.
|
||
doi: 10.1152/physrev.00004.2019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32401177" target="_blank">32401177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29325618">Neurodegeneration with brain iron accumulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayflick SJ,
|
||
Kurian MA,
|
||
Hogarth P</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;147:293-305.
|
||
doi: 10.1016/B978-0-444-63233-3.00019-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29325618" target="_blank">29325618</a><a href="/pmc/articles/PMC8235601" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28654021">Vitamin C, Aging and Alzheimer's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monacelli F,
|
||
Acquarone E,
|
||
Giannotti C,
|
||
Borghi R,
|
||
Nencioni A</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2017 Jun 27;9(7)
|
||
doi: 10.3390/nu9070670.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28654021" target="_blank">28654021</a><a href="/pmc/articles/PMC5537785" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622415">Axonal dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nardocci N,
|
||
Zorzi G</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1919-24.
|
||
doi: 10.1016/B978-0-444-59565-2.00062-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622415" target="_blank">23622415</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Iron%20accumulation%20in%20brain%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (628)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35625641">Cerebral Iron Deposition in Neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dusek P,
|
||
Hofer T,
|
||
Alexander J,
|
||
Roos PM,
|
||
Aaseth JO</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2022 May 17;12(5)
|
||
doi: 10.3390/biom12050714.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35625641" target="_blank">35625641</a><a href="/pmc/articles/PMC9138489" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34341141">Wilson's disease: update on pathogenesis, biomarkers and treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shribman S,
|
||
Poujois A,
|
||
Bandmann O,
|
||
Czlonkowska A,
|
||
Warner TT</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2021 Oct;92(10):1053-1061.
|
||
Epub 2021 Aug 2
|
||
doi: 10.1136/jnnp-2021-326123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34341141" target="_blank">34341141</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29325618">Neurodegeneration with brain iron accumulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayflick SJ,
|
||
Kurian MA,
|
||
Hogarth P</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;147:293-305.
|
||
doi: 10.1016/B978-0-444-63233-3.00019-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29325618" target="_blank">29325618</a><a href="/pmc/articles/PMC8235601" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28985560">Ferroptosis: A Regulated Cell Death Nexus Linking Metabolism, Redox Biology, and Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stockwell BR,
|
||
Friedmann Angeli JP,
|
||
Bayir H,
|
||
Bush AI,
|
||
Conrad M,
|
||
Dixon SJ,
|
||
Fulda S,
|
||
Gascón S,
|
||
Hatzios SK,
|
||
Kagan VE,
|
||
Noel K,
|
||
Jiang X,
|
||
Linkermann A,
|
||
Murphy ME,
|
||
Overholtzer M,
|
||
Oyagi A,
|
||
Pagnussat GC,
|
||
Park J,
|
||
Ran Q,
|
||
Rosenfeld CS,
|
||
Salnikow K,
|
||
Tang D,
|
||
Torti FM,
|
||
Torti SV,
|
||
Toyokuni S,
|
||
Woerpel KA,
|
||
Zhang DD</span><br />
|
||
<span class="medgenPMjournal">Cell</span>
|
||
2017 Oct 5;171(2):273-285.
|
||
doi: 10.1016/j.cell.2017.09.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28985560" target="_blank">28985560</a><a href="/pmc/articles/PMC5685180" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25231526">The role of iron in brain ageing and neurodegenerative disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ward RJ,
|
||
Zucca FA,
|
||
Duyn JH,
|
||
Crichton RR,
|
||
Zecca L</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2014 Oct;13(10):1045-60.
|
||
doi: 10.1016/S1474-4422(14)70117-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25231526" target="_blank">25231526</a><a href="/pmc/articles/PMC5672917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Iron%20accumulation%20in%20brain%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (583)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33412145">Astrocytes in heavy metal neurotoxicity and neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li B,
|
||
Xia M,
|
||
Zorec R,
|
||
Parpura V,
|
||
Verkhratsky A</span><br />
|
||
<span class="medgenPMjournal">Brain Res</span>
|
||
2021 Feb 1;1752:147234.
|
||
Epub 2021 Jan 5
|
||
doi: 10.1016/j.brainres.2020.147234.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33412145" target="_blank">33412145</a><a href="/pmc/articles/PMC8999909" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30664867">Metal Toxicity Links to Alzheimer's Disease and Neuroinflammation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huat TJ,
|
||
Camats-Perna J,
|
||
Newcombe EA,
|
||
Valmas N,
|
||
Kitazawa M,
|
||
Medeiros R</span><br />
|
||
<span class="medgenPMjournal">J Mol Biol</span>
|
||
2019 Apr 19;431(9):1843-1868.
|
||
Epub 2019 Jan 18
|
||
doi: 10.1016/j.jmb.2019.01.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30664867" target="_blank">30664867</a><a href="/pmc/articles/PMC6475603" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28654021">Vitamin C, Aging and Alzheimer's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monacelli F,
|
||
Acquarone E,
|
||
Giannotti C,
|
||
Borghi R,
|
||
Nencioni A</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2017 Jun 27;9(7)
|
||
doi: 10.3390/nu9070670.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28654021" target="_blank">28654021</a><a href="/pmc/articles/PMC5537785" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25231526">The role of iron in brain ageing and neurodegenerative disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ward RJ,
|
||
Zucca FA,
|
||
Duyn JH,
|
||
Crichton RR,
|
||
Zecca L</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2014 Oct;13(10):1045-60.
|
||
doi: 10.1016/S1474-4422(14)70117-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25231526" target="_blank">25231526</a><a href="/pmc/articles/PMC5672917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23007702">Progressive multiple sclerosis: pathology and pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lassmann H,
|
||
van Horssen J,
|
||
Mahad D</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2012 Nov 5;8(11):647-56.
|
||
Epub 2012 Sep 25
|
||
doi: 10.1038/nrneurol.2012.168.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23007702" target="_blank">23007702</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Iron%20accumulation%20in%20brain%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (307)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38731973">Wilson Disease: Copper-Mediated Cuproptosis, Iron-Related Ferroptosis, and Clinical Highlights, with Comprehensive and Critical Analysis Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teschke R,
|
||
Eickhoff A</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Apr 26;25(9)
|
||
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<div class="nl"><a target="_blank" href="/pubmed/34130600">The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Deneubourg C,
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Ramm M,
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Smith LJ,
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Baron O,
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<div class="nl"><a target="_blank" href="/pubmed/33110073">Neutrophil-induced ferroptosis promotes tumor necrosis in glioblastoma progression.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yee PP,
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Wei Y,
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Kim SY,
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Lu T,
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Lawson C,
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Liu Z,
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Anderson B,
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2020 Oct 27;11(1):5424.
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<div class="nl"><a target="_blank" href="/pubmed/30664867">Metal Toxicity Links to Alzheimer's Disease and Neuroinflammation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Huat TJ,
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Camats-Perna J,
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2019 Apr 19;431(9):1843-1868.
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<div class="nl"><a target="_blank" href="/pubmed/23622415">Axonal dystrophies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nardocci N,
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<span class="medgenPMjournal">Handb Clin Neurol</span>
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<span class="bold">PMID: </span><a href="/pubmed/23622415" target="_blank">23622415</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Iron%20accumulation%20in%20brain%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (227)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38395990">Targeting SIRT3 sensitizes glioblastoma to ferroptosis by promoting mitophagy and inhibiting SLC7A11.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li X,
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Zhang W,
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Xing Z,
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Hu S,
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Zhang G,
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Wang T,
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Wang T,
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Fan Q,
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Chen G,
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Cheng J,
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Jiang X,
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Cai R</span><br />
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<span class="medgenPMjournal">Cell Death Dis</span>
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2024 Feb 23;15(2):168.
|
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doi: 10.1038/s41419-024-06558-0.
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<span class="bold">PMID: </span><a href="/pubmed/38395990" target="_blank">38395990</a><a href="/pmc/articles/PMC10891132" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/38056585">The role of ferroptosis and its mechanism in ischemic stroke.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hu X,
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Bao Y,
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Li M,
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Zhang W,
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Chen C</span><br />
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<span class="medgenPMjournal">Exp Neurol</span>
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2024 Feb;372:114630.
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Epub 2023 Dec 4
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doi: 10.1016/j.expneurol.2023.114630.
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<span class="bold">PMID: </span><a href="/pubmed/38056585" target="_blank">38056585</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35625641">Cerebral Iron Deposition in Neurodegeneration.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dusek P,
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Hofer T,
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Alexander J,
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Roos PM,
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Aaseth JO</span><br />
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<span class="medgenPMjournal">Biomolecules</span>
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2022 May 17;12(5)
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doi: 10.3390/biom12050714.
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<span class="bold">PMID: </span><a href="/pubmed/35625641" target="_blank">35625641</a><a href="/pmc/articles/PMC9138489" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34341141">Wilson's disease: update on pathogenesis, biomarkers and treatments.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shribman S,
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Poujois A,
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Bandmann O,
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Czlonkowska A,
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Warner TT</span><br />
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<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
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2021 Oct;92(10):1053-1061.
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Epub 2021 Aug 2
|
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doi: 10.1136/jnnp-2021-326123.
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<span class="bold">PMID: </span><a href="/pubmed/34341141" target="_blank">34341141</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29325618">Neurodegeneration with brain iron accumulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayflick SJ,
|
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Kurian MA,
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Hogarth P</span><br />
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<span class="medgenPMjournal">Handb Clin Neurol</span>
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2018;147:293-305.
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||
doi: 10.1016/B978-0-444-63233-3.00019-1.
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<span class="bold">PMID: </span><a href="/pubmed/29325618" target="_blank">29325618</a><a href="/pmc/articles/PMC8235601" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Iron%20accumulation%20in%20brain%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (564)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/39379520">Ferroptosis in eye diseases: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei S,
|
||
Li J,
|
||
Zhang Y,
|
||
Li Y,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2025 Jan;39(1):18-27.
|
||
Epub 2024 Oct 8
|
||
doi: 10.1038/s41433-024-03371-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39379520" target="_blank">39379520</a><a href="/pmc/articles/PMC11733247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/35067244">Seizure in Neurodegeneration with Brain Iron Accumulation: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emamikhah M,
|
||
Saiyarsarai P,
|
||
Schneider SA,
|
||
Fasano A,
|
||
Mohammadzadeh N,
|
||
Rohani M</span><br />
|
||
<span class="medgenPMjournal">Can J Neurol Sci</span>
|
||
2023 Jan;50(1):60-71.
|
||
Epub 2022 Jan 24
|
||
doi: 10.1017/cjn.2021.502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35067244" target="_blank">35067244</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33057378">The impact of brain iron accumulation on cognition: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spence H,
|
||
McNeil CJ,
|
||
Waiter GD</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2020;15(10):e0240697.
|
||
Epub 2020 Oct 15
|
||
doi: 10.1371/journal.pone.0240697.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33057378" target="_blank">33057378</a><a href="/pmc/articles/PMC7561208" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28866787">Iron metabolism and its detection through MRI in parkinsonian disorders: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pietracupa S,
|
||
Martin-Bastida A,
|
||
Piccini P</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2017 Dec;38(12):2095-2101.
|
||
Epub 2017 Sep 2
|
||
doi: 10.1007/s10072-017-3099-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28866787" target="_blank">28866787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28256436">Parkinsonian-Pyramidal syndromes: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tranchant C,
|
||
Koob M,
|
||
Anheim M</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2017 Jun;39:4-16.
|
||
Epub 2017 Feb 22
|
||
doi: 10.1016/j.parkreldis.2017.02.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28256436" target="_blank">28256436</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Iron%20accumulation%20in%20brain%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div></div>
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