Results 101 to 110 of about 2,322 (154)

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

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

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

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

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