Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10189502" target="_blank" >RIV/00216208:11110/13:10189502 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/13:10189502

Result on the web

<a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580793/" target="_blank" >http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580793/</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.2174/157015913804999469" target="_blank" >10.2174/157015913804999469</a>

Result language

angličtina

Original language name

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)

Original language description

Our understanding of the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) continues to grow considerably. In addition to the core syndromes of pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified (including FA2H, C19orf12, ATP13A2, CP and FTL). In parallel, the clinical and pathological spectrum has broadened and new age-dependent presentations are being described. There is also growing recognition of overlap between the different NBIA disorders and other diseases including spastic paraplegias, leukodystrophies and neuronal ceroid lipofuscinosis which makes a diagnosis solely based on clinical findings challenging. Autopsy examination of genetically-confirmed cases demonstrates Lewy bodies, neurofibrillary tangles, and other hallmarks of apparently distinct neurodegenerative disorders such as Parkinson's disease (PD) and Alzheimer's disease. Until we dise

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2013

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Current Neuropharmacology

ISSN

1570-159X

e-ISSN

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Volume of the periodical

11

Issue of the periodical within the volume

1

Country of publishing house

AE - UNITED ARAB EMIRATES

Number of pages

21

Pages from-to

59-79

UT code for WoS article

000314365200009

EID of the result in the Scopus database

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