Results 141 to 150 of about 2,632 (156)

Paroxysmal sympathetic hyperactivity in Juvenile neuronal ceroid lipofuscinosis (Batten disease)

Autonomic Neuroscience: Basic and Clinical, 2018
John Østergaard
exaly  

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

Successful DNA-based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis

Prenatal Diagnosis, 1993
Tommy Martinsson, J Wahlstrom, P Uvebrant   +2 more
exaly  

Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla

American Journal of Physiology - Cell Physiology, 2010
Beverly L Davidson, Paul Yancey, Colleen Stein   +2 more
exaly  

Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis

Journal of Neurochemistry, 2016
Dietmar Kuhl, Guido Hermey
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
Goebel H H, Braak H, H Braak
exaly  

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

Brain and Development, 1987
Seiji Kimura, H H Goebel
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

Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene

Journal of the Neurological Sciences, 2018
Aya Narita
exaly  

Juvenile neuronal ceroid-lipofuscinosis with hypertrophic cardiomyopathy and left ventricular noncompaction: a case report

Clinical Neurology, 2014
exaly