Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

Neurology

Volumn 64, Issue 2, 2005, Pages 254-262

  Sheen, V L ^a   Jansen, A ^b   Chen, M H ^c   Parrini, E ^d   Morgan, T ^e   Ravenscroft, R ^a   Ganesh, V ^a   Underwood, T ^f   Wiley, J ^f   Leventer, R ^g   Vaid, R R ^h   Ruiz, D E ^h   Hutchins, G M ⁱ   Menasha, J ^j   Willner, J ^j   Geng, Y ^j   Gripp, K W ^k   Nicholson, L ^k   Berry Kravis, E ^l   Bodell, A ^a   Apse, K ^a   Hill, R S ^a   Dubeau, F ^b   Andermann, F ^b,m   Barkovich, J ^h   Andermann, E ^b,m   Shugart, Y Y ⁿ   Thomas, P ^o   Viri, M ^p   Veggiotti, P ^q   Robertson, S ^e   Guerrini, R ^d   Walsh, C A ^a,r   more..

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b MCGILL UNIVERSITY   (Canada)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d UNIVERSITY OF PISA   (Italy)

^e UNIVERSITY OF OTAGO   (New Zealand)

^f NEPEAN HOSPITAL   (Australia)

^g UNIVERSITY OF MELBOURNE   (Australia)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ JOHNS HOPKINS HOSPITAL   (United States)

^j MOUNT SINAI HOSPITAL   (United States)

^k NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^l RUSH UNIVERSITY MEDICAL CENTER   (United States)

^m MCGILL UNIVERSITY   (Canada)

ⁿ JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^o PASTEUR HOSPITAL   (France)

^p FATEBENEFRATELLI HOSPITAL   (Italy)

^q C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^r HARVARD MEDICAL SCHOOL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN;

ADOLESCENT; ADULT; ARTICLE; BASE PAIRING; BRAIN DISEASE; BRAIN VENTRICLE; CHILD; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; EHLERS DANLOS SYNDROME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROTOPIA; HUMAN; JOINT HYPERMOBILITY; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PERIVENTRICULAR HETEROTOPIA; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RADIODIAGNOSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; WESTERN BLOTTING; X CHROMOSOME; X CHROMOSOME DOMINANT INHERITANCE; X CHROMOSOME LINKED DISORDER;

EID: 19944432730     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000149512.79621.DF     Document Type: Article

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