New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

Autor:	Hisham Alkhalidi, Hamdy H. Hassan, Emeline Mundwiller, Mohammed Al-Owain, Salah A. Elmalik, Thomas M. Bosley, Amal Y. Kentab, Richard J. Rodenburg, Roman Chrast, Abdulmajeed AlDrees, Mohammad M. Kabiraj, Michel Koenig, Hamad Al-Zaidan, Arif O. Khan, Giovanni Stevanin, Istvan Katona, Mustafa A. Salih, Hamid Azzedine, Joachim Weis
Jazyk:	angličtina
Rok vydání:	2013
Předmět:	Adult Male Pathology medicine.medical_specialty Ataxia Adolescent Genotype Neurodegeneration with brain iron accumulation Neural Conduction Neuroaxonal Dystrophies lcsh:Medicine Neuroimaging Biology Gene mutation medicine.disease_cause Infantile neuroaxonal dystrophy Group VI Phospholipases A2 Consanguinity Young Adult Atrophy medicine Humans lcsh:Science Child Genetics Mutation Multidisciplinary Muscles Neurodegeneration lcsh:R Infant Electroencephalography medicine.disease Arabs Pedigree Phenotype Child Preschool Evoked Potentials Visual Cerebellar atrophy lcsh:Q Female medicine.symptom Research Article Follow-Up Studies
Zdroj:	PLOS ONE 8(10), e76831 (2013). doi:10.1371/journal.pone.0076831 PLoS ONE PLoS ONE, Vol 8, Iss 10, p e76831 (2013) Plos One, vol. 8, no. 10, pp. e76831
DOI:	10.1371/journal.pone.0076831
Popis:	PLoS one 8(10), e76831 (2013). doi:10.1371/journal.pone.0076831 Published by PLoS [u.a.], Lawrence, Kan.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::562e27cd51f8d843ccd5fc7393a59b3e https://publications.rwth-aachen.de/record/235779 Zobrazit plný text záznamu