Results 121 to 130 of about 3,936 (170)

Segmentation of Retinal Layers in Sjögren-Larsson Syndrome. [PDF]

Ophthalmology, 2015
Jack LS, Benson C, Sadiq MA, Rizzo WB, Margalit E.   +4 more
europepmc   +1 more source

Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome. [PDF]

Expert Opin Orphan Drugs, 2016
Rizzo WB.
europepmc   +1 more source

Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system. [PDF]

BMJ Case Rep, 2016
Roy U, Das U, Pandit A, Debnath A.
europepmc   +1 more source

Disruption of the Sjögren-Larsson Syndrome Gene Aldh3a2 in Mice Increases Keratinocyte Growth and Retards Skin Barrier Recovery. [PDF]

J Biol Chem, 2016
Naganuma T, Takagi S, Kanetake T, Kitamura T, Hattori S, Miyakawa T, Sassa T, Kihara A.   +7 more
europepmc   +1 more source

Typical clinical and neuroimaging features in Sjögren-Larsson syndrome

Arquivos de Neuro-Psiquiatria
Anderson Rodrigues Brandão de Paiva, Uirá Souto Melo, Fernando Freua, Denise Dória, Katiane Sayão Souza Cabral, Lúcia Inês Macedo-Souza, Leandro Tavares Lucato, Fernando Kok   +7 more
doaj   +1 more source

Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes. [PDF]

J Child Neurol, 2013
Davis K, Holden KR, S'Aulis D, Amador C, Matheus MG, Rizzo WB.   +5 more
europepmc   +1 more source

Large contiguous gene deletions in Sjögren-Larsson syndrome. [PDF]

Mol Genet Metab, 2011
Engelstad H, Carney G, S'aulis D, Rise J, Sanger WG, Rudd MK, Richard G, Carr CW, Abdul-Rahman OA, Rizzo WB.   +9 more
europepmc   +1 more source

A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase. [PDF]

Nat Commun, 2014
Keller MA, Zander U, Fuchs JE, Kreutz C, Watschinger K, Mueller T, Golderer G, Liedl KR, Ralser M, Kräutler B, Werner ER, Marquez JA.   +11 more
europepmc   +1 more source

Sjögren-Larsson syndrome in two brothers: a case report. [PDF]

Cases J, 2009
Moghaddam FR, Safar F, Asheghan M, Soltani ZR, Zade FD.   +4 more
europepmc   +1 more source

Proton MR spectroscopy of Sjogren-Larsson's syndrome

Proton MR spectroscopy of Sjogren-Larsson's syndrome
We performed single-voxel proton MR spectroscopy (1H-MRS) in two children with Sjogren-Larsson's syndrome (SLS). Both patients showed two abnormal spectral peaks at 1.3 ppm and 0.9 ppm that were obtained with short echo times. These two abnormal spectral peaks were seen in high-intensity areas on T2-weighted images and also in basal ganglia of normal ...
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