Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

Brain

Volumn 135, Issue 9, 2012, Pages 2875-2882

  Johnson, Janel O ^a,b   Gibbs, J Raphael ^a,b   Megarbane, Andre ^c   Urtizberea, J Andoni ^d   Hernandez, Dena G ^a,b   Foley, A Reghan ^e   Arepalli, Sampath ^a   Pandraud, Amelie ^b   Simón Sánchez, Javier ^a   Clayton, Peter ^e   Reilly, Mary M ^b   Muntoni, Francesco ^e   Abramzon, Yevgeniya ^a   Houlden, Henry ^b   Singleton, Andrew B ^a,f  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d MPR   (France)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

ALS; BVVL; motor neuron disease; riboflavin; SLC52A2

Indexed keywords

PROTEIN; RIBOFLAVIN TRANSPORTER PROTEIN; SOLUTE CARRIER FAMILY 52 RIBOFLAVIN TRANSPORTER MEMBER 1 PROTEIN; SOLUTE CARRIER FAMILY 52 RIBOFLAVIN TRANSPORTER MEMBER 2 PROTEIN; SOLUTE CARRIER FAMILY 52 RIBOFLAVIN TRANSPORTER MEMBER 3 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BROWN VIALETTO VAN LAERE SYNDROME; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; MALE; MOTOR NEURON DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN MICROARRAY;

EID: 84866369095     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws161     Document Type: Article

References (14)

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