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

PLoS ONE

Volumn 8, Issue 10, 2013, Pages

  Salih, Mustafa A ^a   Mundwiller, Emeline ^b   Khan, Arif O ^c   AlDrees, Abdulmajeed ^a   Elmalik, Salah A ^a   Hassan, Hamdy H ^a   Al Owain, Mohammed ^d   Alkhalidi, Hisham M S ^a   Katona, Istvan ^e   Kabiraj, Mohammad M ^f   Chrast, Roman ^g   Kentab, Amal Y ^a   Alzaidan, Hamad ^d   Rodenburg, Richard J ^h   Bosley, Thomas M ^a,i   Weis, Joachim ^e   Koenig, Michel ^j   Stevanin, Giovanni ^b,k,l,m,n,o   Azzedine, Hamid ^g  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^d KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^e UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^f Prince Sultan Military Medical City   (Saudi Arabia)

^g UNIVERSITY OF LAUSANNE   (Switzerland)

^h RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ Division of Female Pelvic Medicine and Reconstructive Surgery   (United States)

^j UNIVERSITÉ DE STRASBOURG   (France)

^k PSL RESEARCH UNIVERSITY   (France)

^l INSERM   (France)

^m INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

ⁿ SORBONNE UNIVERSITÉ   (France)

^o ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL ENZYME; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE;

ADOLESCENT; ADULT; ARAB; ARTICLE; BRAIN ATROPHY; BRAIN REGION; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINITY; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; ENZYME ACTIVITY; EVOKED VISUAL RESPONSE; FEMALE; GENE; GENE FUNCTION; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KARAK SYNDROME; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MOTOR NERVE CONDUCTION; MUSCLE BIOPSY; NERVE DEGENERATION; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROLOGIC DISEASE; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PLA2G6 GENE; SCHOOL CHILD; SYMPTOMATOLOGY;

ADOLESCENT; ADULT; ARABS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; ELECTROENCEPHALOGRAPHY; EVOKED POTENTIALS, VISUAL; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; GROUP VI PHOSPHOLIPASES A2; HUMANS; INFANT; MALE; MUSCLES; MUTATION; NEURAL CONDUCTION; NEUROAXONAL DYSTROPHIES; NEUROIMAGING; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84885152051     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0076831     Document Type: Article

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