Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
Authors :Basel-Vanagaite L
, Muncher L
, Straussberg R
, Pasmanik-Chor M
, Yahav M
, Rainshtein L
, Walsh CA
, Magal N
, Taub E
, Drasinover V
, Shalev H
, Attia R
, Rechavi G
, Simon AJ
, Shohat M
Published On :2006 Aug
Journal Article
Research Support, Non-U.S. Gov't
Comprehensive association testing of common mitochondrial DNA variation in metabolic disease.
Authors :Saxena R
, de Bakker PI
, Singer K
, Mootha V
, Burtt N
, Hirschhorn JN
, Gaudet D
, Isomaa B
, Daly MJ
, Groop L
, Ardlie KG
, Altshuler D
Published On :2006 Jul
Journal Article
Research Support, Non-U.S. Gov't
An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.
Authors :Rajab A
, Yoo SY
, Abdulgalil A
, Kathiri S
, Ahmed R
, Mochida GH
, Bodell A
, Barkovich AJ
, Walsh CA
Published On :2006 Jul 15
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't