Results 91 to 100 of about 4,843,979 (151)

VP175 Validating Outcome Assessments For Health Technology Assessment In Ceroid Lipofuscinosis Neuronal 2 (CLN2), An Ultra-Rare Disease

, 2017
INTRODUCTION:Ceroid lipofuscinosis neuronal 2 (CLN2) disease, a form of Batten disease, is a rare, degenerative neurometabolic disorder. Disease onset around 2–4 years is followed by rapid decline in motor and neurologic function and mortality in early ...
Andrea West, Andrew Olaye, Rachel Ballinger, Samuel Llewellyn, Jake Macey, Thomas Butt, Mohit Jain, Lina Eliasson   +7 more
core   +1 more source

Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease

Journal of Inherited Metabolic Disease
ABSTRACTCLN2 and CLN3 diseases, the most common types of Batten disease (also known as neuronal ceroid lipofuscinosis), are childhood dementias associated with progressive loss of speech, language and feeding skills. Here we delineate speech, language, non‐verbal communication and feeding phenotypes in 33 individuals (19 females) with a median age of 9.
Lottie D. Morison, Ineka T. Whiteman, Adam P. Vogel, Lisa Tilbrook, Michael C. Fahey, Ruth Braden, Joanna Bredebusch, Michael S. Hildebrand, Ingrid E. Scheffer, Angela T. Morgan   +9 more
openaire   +2 more sources

Cln2 degroni ja promootori mõju valgu ekspressiooni tasemele [PDF]

, 2020
Precise regulation of the cell cycle events is essential for correct DNA replication and successful cell reproduction. Progression through the cell cycle is tightly controlled over a multisite phosphorylation network.
Shmidt, Daniel
core  

Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy [PDF]

OBJECTIVES: Neuronal ceroid lipofuscinosis type 2 (CLN2-disease) is an inherited childhood-onset neurodegenerative condition, with classical early features of speech delay, epilepsy, myoclonus, ataxia, and motor regression.
Soo, Audrey K, Batzios, Spyros, Whiteley, Rebecca, Mink, Jonathan W, Gissen, Paul, Spaull, Robert, Footitt, Emma, Kurian, Manju A, Carr, Lucinda   +8 more
core   +1 more source

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment

, 2021
Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is caused by a deficiency of tripeptidyl-peptidase-1. In 2017, the first CLN2 enzyme replacement therapy (ERT) cerliponase alfa (Brineura) was approved by the FDA and EMA.
Mills, Philippa B, Lee, Laura, Iwan, Katharina, Bower, Rebecca, Zetterberg, Henrik, Gissen, Paul, Borisova, Mina, Mole, Sara E, Heywood, Wendy E, Heslegrave, Amanda, Mills, Kevin, Patel, Nina   +11 more
core  

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis. [PDF]

PLoS One, 2021
Gall K, Izzo E, Seppälä EH, Alakurtti K, Koskinen L, Saarinen I, Singh A, Myllykangas S, Koskenvuo J, Alastalo TP.   +9 more
europepmc   +1 more source

Role of Swi4 in cell cycle regulation of CLN2 expression.

Expression of the Saccharomyces cerevisiae CLN1 and CLN2 genes is cell cycle regulated, and the genes may be controlled by positive feedback. It has been proposed that positive feedback operates via Cln/Cdc28 activation of the Swi4/Swi6 transcription ...
McKinney, J D, Hoek, M, Tinkelenberg, A H, Cross, F R   +3 more
core   +1 more source

Intrathecal enzyme replacement therapy for CLN2 disease [PDF]

Cellular Therapy and Transplantation, 2019
openaire   +1 more source

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  

Peripapillary Retinal Nerve Fiber Layer (pRNFL) Thickness - A Novel Biomarker of Neurodegeneration in Late-Infantile CLN2 Disease. [PDF]

Eye Brain
Gkalapis N, Dulz S, Grohmann C, Nickel M, Schwering C, Wibbeler E, Spitzer MS, Schulz A, Atiskova Y.   +8 more
europepmc   +1 more source