Results 111 to 120 of about 4,597 (153)

Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics. [PDF]

Int J Mol Sci
Teker B, Akan G, Kazan HH, Özgen Ö, Tatonyan S, Balci MC, Karaca M, Kurekci F, Yıldız EP, Güngor O, Deniz A, Gedikbasi A, Atalar F, Gokcay GF, Poda M.   +14 more
europepmc   +1 more source

Autosomal dominant Kufs disease in a Georgian adult woman: A case report. [PDF]

Epilepsy Behav Rep
Papiashvili N, Gagua S, Gonjilashvili N, Okujava N, Tsereteli A.   +4 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Cynomolgus macaque model of neuronal ceroid lipofuscinosis type 2 disease

Experimental Neurology, 2023
Neuronal ceroid lipofuscinoses (NCLs) are autosomal-recessive fatal neurodegenerative diseases that occur in children and young adults, with symptoms including ataxia, seizures and visual impairment. We report the discovery of cynomolgus macaques carrying the CLN2/TPP1 variant and our analysis of whether the macaques could be a new non-human primate ...
Yoshiko, Munesue, Naohide, Ageyama, Nobuyuki, Kimura, Ichiro, Takahashi, Shunya, Nakayama, Sachi, Okabayashi, Yuko, Katakai, Hiroshi, Koie, Ken-Ichi, Yagami, Kazuhiro, Ishii, Akira, Tamaoka, Yasuhiro, Yasutomi, Nobuhiro, Shimozawa   +12 more
openaire   +2 more sources

Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease

Epilepsia, 2017
SummaryObjectiveThis study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease to enable early diagnosis, thus providing the key to early treatment, and optimized care and outcomes.MethodsRetrospective clinical chart review of a ...
Nicola, Specchio, Marcello, Bellusci, Nicola, Pietrafusa, Marina, Trivisano, Luca, de Palma, Federico, Vigevano   +5 more
openaire   +2 more sources

Economic analysis of cerliponase alfa for treatment of late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2)

Expert Review of Pharmacoeconomics & Outcomes Research, 2023
Cerliponase alfa is an orphan drug approved for the treatment of late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2).Our goal was to assess the cost-effectiveness of cerliponase alfa in patients with CLN2 in the socioeconomic context of the Republic of Serbia in contrast to symptomatic therapy.For this study, a forty-year horizon and the ...
Medo Gutić, Miloš N. Milosavljević, Teodora Safiye, Ardea Milidrag, Slobodan M. Jankovic   +4 more
openaire   +2 more sources