Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes

Journal of Medical Genetics

Volumn 52, Issue 2, 2015, Pages 85-94

  Hufnagel, Robert B ^a   Arno, Gavin ^b   Hein, Nichole D ^c   Hersheson, Joshua ^d   Prasad, Megana ^e   Anderson, Yvonne ^f,g   Krueger, Laura A ^a   Gregory, Louise C ^h   Stoetzel, Corinne ^e   Jaworek, Thomas J ⁱ   Hull, Sarah ^b   Li, Abi ^d   Plagnol, Vincent ^j   Willen, Christi M ^k   Morgan, Thomas M ^l   Prows, Cynthia A ^a   Hegde, Rashmi S ^a   Riazuddin, Saima ⁱ   Grabowski, Gregory A ^a   Richardson, Rudy J ^c,m   Dieterich, Klaus ⁿ   Huang, Taosheng ^a   Revesz, Tamas ^d   Martinez Barbera, J P ^h   Sisk, Robert A ^a,o   Jefferies, Craig ^p   Houlden, Henry ^d   Dattani, Mehul T ^h   Fink, John K ^c   Dollfus, Helene ^e,q   Moore, Anthony T ^b   Ahmed, Zubair M ^i,r   more..

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITÉ DE STRASBOURG   (France)

^f TARANAKI BASE HOSPITAL   (New Zealand)

^g UNIVERSITY OF AUCKLAND   (New Zealand)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k UNIVERSITY OF KENTUCKY   (United States)

^l VANDERBILT UNIVERSITY   (United States)

^m UNIVERSITY OF MICHIGAN   (United States)

ⁿ GRENOBLE INSTITUT DES NEUROSCIENCES   (France)

^o CINCINNATI EYE INSTITUTE   (United States)

^p STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^q UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^r NONE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; NEUROTOXIC ESTERASE; CARBOXYLESTERASE; PHOSPHOLIPASE; PNPLA6 PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; BRAIN DEVELOPMENT; BRAIN HISTOLOGY; CEREBELLUM ATROPHY; CEREBELLUM DEGENERATION; CONGENITAL DISORDER; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; EXOME; EYE DEVELOPMENT; FIBROBLAST; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE EXPRESSION; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; LAURENCE MOON SYNDROME; MUTATIONAL ANALYSIS; NONHUMAN; OLIVER MCFARLANE SYNDROME; PHENOTYPE; PNPLA6 GENE; PRIORITY JOURNAL; RETINA DEVELOPMENT; SEQUENCE ANALYSIS; SPASTIC PARAPLEGIA; WILD TYPE; ZEBRA FISH; AMINO ACID SEQUENCE; ANIMAL; CENTRAL NERVOUS SYSTEM; CHEMISTRY; DEVELOPMENTAL DISORDER; DWARFISM; EMBRYO DEVELOPMENT; EMBRYOLOGY; ENZYMOLOGY; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; HYPERTRICHOSIS; INTELLECTUAL IMPAIRMENT; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PROTEIN TERTIARY STRUCTURE; PTOSIS; RETINA; RETINITIS PIGMENTOSA;

DANIO RERIO;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BLEPHAROPTOSIS; CARBOXYLIC ESTER HYDROLASES; CENTRAL NERVOUS SYSTEM; DEVELOPMENTAL DISABILITIES; DWARFISM; EMBRYONIC DEVELOPMENT; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERTRICHOSIS; INTELLECTUAL DISABILITY; LAURENCE-MOON SYNDROME; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PHOSPHOLIPASES; PROTEIN STRUCTURE, TERTIARY; RETINA; RETINITIS PIGMENTOSA; ZEBRAFISH;

EID: 84961290411     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102856     Document Type: Article

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