Results 151 to 160 of about 6,644 (221)

Cone-Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report. [PDF]

Clin Case Rep
Hosseini SM, Nejad Shahrokh Abadi R, Babaei M, Eghbal F, Hashemi N.   +4 more
europepmc   +1 more source

Early Symptoms and Treatment Outcomes in Neuronal Ceroid Lipofuscinosis Type 2: Croatian Experience. [PDF]

J Pers Med
Radić Nišević J, Kolić I, Kostanjski M, Kovačević F, Prpić I.   +4 more
europepmc   +1 more source

A novel pathogenic variant in the KCTD7 gene in a patient with neuronal ceroid lipofuscinosis (CLN14): a case report and review of the literature. [PDF]

BMC Neurol
Zeineddin S, Matar G, Abosaif Y, Abunada M, Aldabbour B.   +4 more
europepmc   +1 more source

Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in <i>CLN6</i>. [PDF]

Genes (Basel)
Mhlanga-Mutangadura T, Bullock G, Cerda-Gonzalez S, Katz ML.   +3 more
europepmc   +1 more source

Novel surgical approach for intraventricular cerliponase alfa enzyme replacement therapy via central venous access device (CVAD) port in neuronal ceroid lipofuscinosis type 2 (CLN2) disease. [PDF]

Childs Nerv Syst
Boop S, Nistal D, Barrios-Anderson A, Cherny WB, Chang IJ, Shelkowitz E, Kho T, Goldstein HE, Hauptman J.   +8 more
europepmc   +1 more source

An exploration of the diagnostic journey of children with Neuronal Ceroid Lipofuscinosis (NCL)

A retrospective examination of the diagnostic journey of Australian and New Zealand children with Neuronal Ceroid Lipofuscinosis (NCL) or Batten disease.
Alanna Gayko (21299615)
core  

Correction: A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis. [PDF]

Cell Mol Life Sci
Basak I, Wicky HE, McDonald KO, Xu JB, Palmer JE, Best HL, Lefrancois S, Lee SY, Schoderboeck L, Hughes SM.   +9 more
europepmc   +1 more source

Adult-onset neuronal ceroid lipofuscinosis misdiagnosed as autoimmune encephalitis and normal-pressure hydrocephalus: A 10-year case report and case-based review. [PDF]

Medicine (Baltimore)
Huang H, Liao Y, Yu Y, Qin H, Wei YZ, Cao L.   +5 more
europepmc   +1 more source

The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the TPP1 gene and genotype-phenotype correlation in Ukraine. [PDF]

JIMD Rep
Olkhovych N, Pichkur N, Mytsyk N, Tonin R, Kormoz S, Hregul I, Samonenko N, Shklyarskaya T, Olkhovych V, Buryak O, Morrone A, Gorovenko N.   +11 more
europepmc   +1 more source

Akap5 links synaptic dysfunction to neuroinflammatory signaling in a mouse model of infantile neuronal ceroid lipofuscinosis. [PDF]

Front Synaptic Neurosci
Koster KP, Fyke Z, Nguyen TTA, Niqula A, Noriega-González LY, Woolfrey KM, Dell'Acqua ML, Cologna SM, Yoshii A.   +8 more
europepmc   +1 more source