Results 91 to 100 of about 2,322 (154)

Identification of α-fetoprotein as an autoantigen in juvenile Batten disease

Neurobiology of Disease, 2008
Humoral autoimmunity against glutamic acid decarboxylase has been described in juvenile Batten disease patients and in the Cln3−/− mouse model. To obtain a more comprehensive understanding of the repertoire of antigens targeted, we examined the ...
Julian A. Castaneda, David A. Pearce
doaj   +1 more source

The CLN3 gene and protein: What we know

Molecular Genetics & Genomic Medicine, 2019
Background One of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental
Myriam Mirza, Anna Vainshtein, Alberto DiRonza, Uma Chandrachud, Luke J. Haslett, Michela Palmieri, Stephan Storch, Janos Groh, Niv Dobzinski, Gennaro Napolitano, Carolin Schmidtke, Danielle M. Kerkovich   +11 more
doaj   +1 more source

Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging. [PDF]

Doc Ophthalmol, 2023
Sakti DH, Cornish EE, Fraser CL, Nash BM, Sandercoe TM, Jones MM, Rowe NA, Jamieson RV, Johnson AM, Grigg JR.   +9 more
europepmc   +1 more source

Treatment of non-epileptic episodes of anxious, fearful behavior in adolescent juvenile neuronal ceroid lipofuscinosis (CLN3 disease). [PDF]

Front Neurol, 2023
Ostergaard JR.
europepmc   +1 more source

Etiology of anxious and fearful behavior in juvenile neuronal ceroid lipofuscinosis (CLN3 disease). [PDF]

Front Psychiatry, 2023
Ostergaard JR.
europepmc   +1 more source

Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons. [PDF]

Dis Model Mech, 2022
Chear S, Perry S, Wilson R, Bindoff A, Talbot J, Ware TL, Grubman A, Vickers JC, Pébay A, Ruddle JB, King AE, Hewitt AW, Cook AL.   +12 more
europepmc   +1 more source

The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample. [PDF]

Eur J Paediatr Neurol, 2022
Wibbeler E, Nickel M, Schwering C, Schulz A, Mink JW.   +4 more
europepmc   +1 more source

Towards Understanding Behaviour and Emotions of Children with CLN3 Disease (Batten Disease): Patterns, Problems and Support for Child and Family. [PDF]

Int J Environ Res Public Health, 2022
Honingh AK, Kruithof YL, Kuper WFE, van Hasselt PM, Sterkenburg PS.   +4 more
europepmc   +1 more source

Neurofilament light chain levels correlate with clinical measures in CLN3 disease. [PDF]

Genet Med, 2021
Dang Do AN, Sinaii N, Masvekar RR, Baker EH, Thurm AE, Soldatos AG, Bianconi SE, Bielekova B, Porter FD.   +8 more
europepmc   +1 more source

Characterizing upper limb function in the context of activities of daily living in CLN3 disease. [PDF]

Am J Med Genet A, 2021
Hildenbrand H, Wickstrom J, Parks R, Zampieri C, Nguyen TT, Thurm A, Jenkins K, Alter KE, Matsubara J, Hammond D, Soldatos A, Porter FD, Dang Do AN.   +12 more
europepmc   +1 more source