Results 111 to 120 of about 1,277,361 (159)

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

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

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

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

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 ...
openaire   +1 more source

Peripheral Neuropathy in a Case of Sjogren-Larsson Syndrome

NO TO HATATSU, 1974
ORIGUCHI, Yoshihiro, NONAKA, Ikuya, UENO, Tomeo   +2 more
openaire   +1 more source

Phenotypic variability among adult siblings with Sjögren-Larsson syndrome. [PDF]

Arch Neurol, 2006
Lossos A, Khoury M, Rizzo WB, Gomori JM, Banin E, Zlotogorski A, Jaber S, Abramsky O, Argov Z, Rosenmann H.   +9 more
europepmc   +1 more source

Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion. [PDF]

Arch Dermatol Res, 2010
Rizzo WB, S'Aulis D, Jennings MA, Crumrine DA, Williams ML, Elias PM.   +5 more
europepmc   +1 more source