These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
7. A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course. Aberg L; Lauronen L; Hämäläinen J; Mole SE; Autti T Pediatr Neurol; 2009 Feb; 40(2):134-7. PubMed ID: 19135632 [TBL] [Abstract][Full Text] [Related]
8. Neuronal ceroid lipofuscinosis with severe biventricular impairment: a rare genetic disorder with associated myopathy? Khanji MY; Rusinova R; Shaukat M; Sekhri N Eur Heart J; 2018 Jan; 39(1):74. PubMed ID: 29182766 [No Abstract] [Full Text] [Related]
9. Strategy for mutation detection in CLN3: characterisation of two Finnish mutations. Munroe PB; O'Rawe AM; Mitchison HM; Järvelä IE; Santavuori P; Lerner TJ; Taschner PE; Gardiner RM; Mole SE Neuropediatrics; 1997 Feb; 28(1):15-7. PubMed ID: 9151312 [TBL] [Abstract][Full Text] [Related]
10. Considerations in multi-gene panel testing in pediatric ophthalmology. Turriff AE; Cukras CA; Brooks BP; Huryn LA J AAPOS; 2019 Jun; 23(3):163-165.e1. PubMed ID: 30769084 [TBL] [Abstract][Full Text] [Related]
11. Anaesthesia and orphan disease: A 2-year-old with neuronal ceroid lipofuscinosis. Wang S; Pei L Eur J Anaesthesiol; 2020 Feb; 37(2):138-141. PubMed ID: 31913935 [No Abstract] [Full Text] [Related]
12. Epileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan. Arntsen V; Strandheim J; Helland IB; Sand T; Brodtkorb E Epilepsy Behav; 2019 May; 94():59-64. PubMed ID: 30884409 [TBL] [Abstract][Full Text] [Related]
13. Unique Characteristics of the Photoparoxysmal Response in Patients With Neuronal Ceroid Lipofuscinosis Type 2: Can EEG Be a Biomarker? Albert DV; Yin H; De Los Reyes EC; Vidaurre J J Child Neurol; 2016 Nov; 31(13):1475-1482. PubMed ID: 27445018 [TBL] [Abstract][Full Text] [Related]
14. Regional brain atrophy in mouse models of neuronal ceroid lipofuscinosis: a new rostrocaudal perspective. Kühl TG; Dihanich S; Wong AM; Cooper JD J Child Neurol; 2013 Sep; 28(9):1117-22. PubMed ID: 24014506 [TBL] [Abstract][Full Text] [Related]
19. Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence. Mantel I; Brantley MA; Bellmann C; Robson AG; Holder GE; Taylor A; Anderson G; Moore AT Klin Monbl Augenheilkd; 2004 May; 221(5):427-30. PubMed ID: 15162299 [TBL] [Abstract][Full Text] [Related]