Results 141 to 150 of about 2,625 (156)

Next-Generation Sequencing in the Diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis

Pediatric Neurology, 2016
Brita S, Deacon, Jane M, Charles, Edward W, Cheeseman, Sara S, Cathey   +3 more
openaire   +2 more sources

Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis

FEBS Letters, 1993
Jaana Tyynelä, David N Palmer, Marc Baumann   +2 more
exaly  

Successful DNA-based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis

Prenatal Diagnosis, 1993
P Uvebrant, N Conradi, Klas-Henry Hökegård   +2 more
exaly  

First-trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi

Prenatal Diagnosis, 1989
N G Conradi, P Uvebrant, Klas-Henry Hökegård   +2 more
exaly  

Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis

Brain and Development, 1987
Seiji Kimura, Hans Hilmar Goebel
exaly  

Pigmentoarchitectonic pathology of the isocortex in juvenile neuronal ceroid-lipofuscinosis: Axonal enlargements in layer IIIab and cell loss in layer V

Acta Neuropathologica, 1979
H Braak, H H Goebel, Braak H
exaly  

Neuropsychological test battery in the follow‐up of patients with juvenile neuronal ceroid lipofuscinosis

Journal of Intellectual Disability Research, 2001
P Santavuori
exaly  

Detection of β-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren)

Acta Neuropathologica, 1999
Marcello Villanova, C Ceuterick, M T Dotti   +2 more
exaly  

Epileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan

Epilepsy and Behavior, 2019
Íngrid B Helland, Trond Sand, Eylert Brodtkorb   +2 more
exaly  

Small molecule therapies for juvenile neuronal ceroid lipofuscinosis

Molecular Genetics and Metabolism, 2017
Rebecca C Ahrens-Nicklas, Luis Tecedor, Mark L Schultz, Elena Lysenko, Shyam Ramachandran, Eric D Marsh, Beverly L Davidson   +6 more
openaire   +1 more source