Results 101 to 110 of about 2,358 (151)

Author Correction: Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease. [PDF]

Sci Rep, 2021
Minnis CJ, Townsend S, Petschnigg J, Tinelli E, Bähler J, Russell C, Mole SE.   +6 more
europepmc   +1 more source

Visual Recovery and Neurological Stabilization Following Miglustat Treatment in Pediatric CLN3 Disease. [PDF]

J Child Neurol
Dutton AE, Whiteman IT, Jones MM, Geering KE, Afshar S, Johnson AM, Grigg JR.   +6 more
europepmc   +1 more source

Correction: CLN3 disease disrupts very early postnatal hippocampal maturation. [PDF]

Sci Rep
Singh JB, Burris DM, Bhuyan S, Thurston T, Oschmann A, Jankowski C, Lu W, Rabinowitz JD, Ahrens-Nicklas RC.   +8 more
europepmc   +1 more source

Protocol for screening of small molecules in a CLN3 disease patient-specific iPSC-derived neuronal progenitor cell model. [PDF]

STAR Protoc
Venkatesan R, Trippier PC.
europepmc   +1 more source

Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease. [PDF]

Invest Ophthalmol Vis Sci
Han J, Chear S, Talbot J, Swier V, Booth C, Reuben-Thomas C, Dalvi S, Weimer JM, Hewitt AW, Cook AL, Singh R.   +10 more
europepmc   +1 more source

Discovery of Functionalized 1<i>H</i>-Benzo[<i>d</i>]imidazoles That Confer Protective Effects in a Phenotypic CLN3 Disease Patient-Derived iPSC Model. [PDF]

J Med Chem
Simeon P, Venkatesan R, Hao X, Carmona AV, Daria S, Alnouti Y, Trippier PC.   +6 more
europepmc   +1 more source

Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH). [PDF]

Orphanet J Rare Dis
Baekmann C, Handrup MM, Molgaard H, Ejerskov C, Jensen HK, Ostergaard JR.   +5 more
europepmc   +1 more source

Imaging data on characterization of retinal autofluorescent lesions in a mouse model of juvenile neuronal ceroid lipofuscinosis (CLN3 disease). [PDF]

Data Brief, 2020
Wang QJ, Jung KS, Mohan K, Kleinman ME.
europepmc   +1 more source

Autophagic vacuolar myopathy is a common feature of CLN3 disease. [PDF]

Ann Clin Transl Neurol, 2018
Radke J, Koll R, Gill E, Wiese L, Schulz A, Kohlschütter A, Schuelke M, Hagel C, Stenzel W, Goebel HH.   +9 more
europepmc   +1 more source

Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis). [PDF]

JIMD Rep, 2019
Augustine EF, Beck CA, Adams HR, Defendorf S, Vierhile A, Timm D, Weimer JM, Mink JW, Marshall FJ.   +8 more
europepmc   +1 more source