Results 91 to 100 of about 2,358 (151)

Behavioral and emotional symptoms and quality of life in a national sample of individuals with CLN3 Batten disease

Orphanet Journal of Rare Diseases
Background CLN3 Batten disease, also known as Juvenile Neuronal Ceroid Lipofuscinosis, is a childhood-onset neurodegenerative disorder caused by mutations in the CLN3 gene, frequently accompanied by emotional and behavioral symptoms.
Beate Oerbeck, Ingrid B. Helland, Heather R. Adams, Kristin Romvig Overgaard   +3 more
doaj   +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

Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures. [PDF]

J Inherit Metab Dis, 2021
Abdennadher M, Inati S, Soldatos A, Norato G, Baker EH, Thurm A, Bartolini L, Masvekar R, Theodore W, Bielekova B, Porter FD, Dang Do AN.   +11 more
europepmc   +1 more source

Automatic quantification of lymphocyte vacuolization in peripheral blood smears of patients with Batten's disease (CLN3 disease). [PDF]

JIMD Rep, 2021
Nonkes LJP, Kuper WFE, Berrens-Hogenbirk K, Musson REA, van Hasselt PM, Huisman A.   +5 more
europepmc   +1 more source

Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology. [PDF]

Orphanet J Rare Dis
Mink JW, Adams HR, Ahrens-Nicklas R, Andersen BN, Augustine E, Boustany RM, Cooper JD, Levin A, Gissen P, Laine M, Mason HL, Mole SE, Nickel M, Ostergaard JR, Sikorra L, Treat L, Whiteman IT, Williams R, Schulz A.   +18 more
europepmc   +1 more source