C19orf12 mutation leads to a pallido-pyramidal syndrome

Gene

Volumn 537, Issue 2, 2014, Pages 352-356

  Kruer, Michael C ^a,b   Salih, Mustafa A ^c   Mooney, Catherine ^d   Alzahrani, Jawahir ^e   Elmalik, Salah A ^c   Kabiraj, Mohammad M ^f   Khan, Arif O ^g   Paudel, Reema ^h   Houlden, Henry ^h   Azzedine, Hamid ⁱ   Alkuraya, Fowzan ^e,j,k  

^a Sanford Children's Health Research Center   (United States)

^b Division of Pediatric Neurology   (United States)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

^d UNIVERSITY COLLEGE DUBLIN   (Ireland)

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

^f Armed Forces Hospital ^*  (Saudi Arabia)

^g KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ UNIVERSITY OF LAUSANNE   (Switzerland)

^j KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^k ALFAISAL UNIVERSITY   (Saudi Arabia)

more..

Author keywords

Movement disorders; Neurodegenerative disease; Neurogenetics

Indexed keywords

IRON;

ARTICLE; C19ORF12 GENE; CASE REPORT; CEREBELLUM ATROPHY; DEGENERATIVE DISEASE; FAMILIAL DISEASE; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; MALE; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; PALLIDO PYRAMIDAL SYNDROME; PHENOTYPIC VARIATION; PRIORITY JOURNAL;

BAER; BASE PAIRS; BP; BRAINSTEM AUDITORY EVOKED RESPONSE; CMAP; COMPOUND MOTOR ACTION POTENTIAL; DISTAL MOTOR LATENCY; DML; ELECTRORETINOGRAM; ERG; MAGNETIC RESONANCE IMAGING; MB; MCV; MEGABASE; MOTOR CONDUCTION VELOCITY; MOVEMENT DISORDERS; MRI; NBIA; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEURODEGENERATIVE DISEASE; NEUROGENETICS; SENSORY NERVE ACTION POTENTIAL; SNAP; VEP; VISUAL EVOKED POTENTIAL;

ADOLESCENT; AMINO ACID MOTIFS; BLEPHAROSPASM; COMPUTER SIMULATION; CONSANGUINITY; FEMALE; GLOBUS PALLIDUS; HOMOZYGOTE; HUMANS; MALE; MITOCHONDRIAL PROTEINS; MUTATION; PARKINSON DISEASE, SECONDARY; PEDIGREE; SAUDI ARABIA; YOUNG ADULT;

EID: 84893700221     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.11.039     Document Type: Article

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