Results 101 to 110 of about 2,498 (170)

Vision Loss as the Presenting Symptom of Juvenile Neuronal Ceroid Lipofuscinosis

, 1999
To review cases of juvenile neuronal ceroid lipofuscinosis (JNCL), to highlight salient clinical and diagnostic features, and thereby to enhance recognition among ...
Lisa I. Bohra; Jennifer S. Weizer; Andrew G. Lee; Richard A. Lewis
core  

Lipofuscinosis ceroidea neuronal infantil tardía (Jansky- Bielchowsky): Estudio de casos

, 2014
Introducción: La lipofuscinosis ceroidea neuronal constituye el grupo de desordenes genéticos neurodegenerativos de depósito más común en la infancia, afecta a niños, adultos jóvenes y tiene herencia autosómica recesiva. Objetivo: Presentar un estudio de
Fretes, Laura, Ortiz, Jorge, Morel Ayala, Zoilo, Aldana, Alicia, Paredes, Mariana, Esquivel, Ida, Lezcano, María, Romero, Karen   +7 more
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Global and widespread local white matter abnormalities in juvenile neuronal ceroid lipofuscinosis

, 2018
: BACKGROUND AND PURPOSE: Juvenile neuronal ceroid lipofuscinosis is a progressive neurodegenerative lysosomal storage disease of childhood. It manifests with loss of vision, seizures, and loss of cognitive and motor functions leading to premature death.
Lonnqvist, T., Hakkarainen, A., Mannerkoski, M., Roine, U., Balk, M. H., Tokola, A., Autti, T., Roine, Timo, Aberg, L. E.   +8 more
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Peripapillary Retinal Nerve Fiber Layer (pRNFL) Thickness – A Novel Biomarker of Neurodegeneration in Late-Infantile CLN2 Disease

Eye and Brain
Nikolaos Gkalapis,1,2,* Simon Dulz,1,* Carsten Grohmann,1 Miriam Nickel,3 Christoph Schwering,3 Eva Wibbeler,3 Martin Stephan Spitzer,1 Angela Schulz,3 Yevgeniya Atiskova1 1Department of Ophthalmology, University Medical Center Hamburg-Eppendorf,
Gkalapis N, Dulz S, Grohmann C, Nickel M, Schwering C, Wibbeler E, Spitzer MS, Schulz A, Atiskova Y   +8 more
doaj  

Ovine Ceroid Lipofuscinosis

Journal of Biological Chemistry, 1989
D N Palmer, R D Martinus, S M Cooper, G G Midwinter, J C Reid, R D Jolly   +5 more
openaire   +1 more source

Neuronal Ceroid Lipofuscinosis [PDF]

, 2020
openaire   +3 more sources

Neuronal ceroid lipofuscinosis

, 2021
openaire   +1 more source

Neuronal ceroid lipofuscinosis

, 2016
Maxime St-Amant, Arlene Campos, Rohit Sharma   +2 more
openaire   +1 more source

Editorial: Neuronal ceroid lipofuscinosis: molecular genetics and epigenetics

Frontiers in Genetics
Paschalis Nicolaou
doaj   +1 more source

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Ceroid Lipofuscinosis

American Journal of Ophthalmology, 1975
Seven of ten patients with ceroid lipofuscinosis, including infantile, late infantile, juvenile, and atypical variants, presented with visual acuity loss. In the infantile case visual acuity loss was early and severe. Two patients with atypical variants did not develop ocular abnormalities.
B L, Beckerman, I, Rapin
openaire   +2 more sources