Results 101 to 110 of about 4,843,979 (151)

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

A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease. [PDF]

Arq Neuropsiquiatr
Lourenço CM, Sallum JMF, Pereira AM, Girotto PN, Kok F, Vilela DRF, Barron E, Pessoa A, Oliveira BM.   +8 more
europepmc   +1 more source

Whole-organism screening in a zebrafish model of CLN2 disease identifies pregnenolone as a modulator of lysosomal functions with anti-epileptic properties

Kiani LN, Civiletto G, Lizzo G, Zdebik A, Brickell G, Mahmood F, Nalkos DD, Michaelides L, Eldridge P, Young EM, McPherson H, Campanella M, Gut P, Russell C.   +13 more
europepmc   +1 more source

PPARα and RXRα in the regulation of neuronal ceroid lipofuscinosis genes: implications for Batten disease therapy. [PDF]

NeuroImmune Pharm Ther
Chandra S, Pahan K.
europepmc   +1 more source

Intracerebroventricular gene therapy that delays neurological disease progression is associated with selective preservation of retinal ganglion cells in a canine model of CLN2 disease. [PDF]

Exp Eye Res, 2016
Whiting REH, Jensen CA, Pearce JW, Gillespie LE, Bristow DE, Katz ML.   +5 more
europepmc   +1 more source

Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review. [PDF]

J Inherit Metab Dis
Gillan EM, Leiro B, Nagy A, Eichler F, Townsend EL.   +4 more
europepmc   +1 more source

Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls. [PDF]

Genes (Basel)
Cipriano L, Petillo R, Priolo M, D'Ambrosio P.   +3 more
europepmc   +1 more source

CLN2 Batten disease diagnosed via newborn genome screening

Genetics in Medicine Open
Patrick O’Connell, Luca Fierro, Rachel Kaplan, Lilian Liou Cohen, Wendy K. Chung, Joseph Orsini, Jaya Ganesh   +6 more
openaire   +1 more source

Reframing the value of reserve antibiotics: how ultra-orphan reimbursement pathways could offer fair and equitable access to new antibiotics. [PDF]

Health Policy Open
Quinn J, Amersdorffer J, Boysen M, Duffy-Roger O, Hewitt C, Jain M, McKinney D, Ivezic-Schoenfeld Z, Toumi M, Vanbiervliet M, Wasem J.   +10 more
europepmc   +1 more source

Assessment of motor deterioration in a cynomolgus macaque with neuronal ceroid lipofuscinosis type 2 disease using two behavioral analyses. [PDF]

J Vet Med Sci
Munesue Y, Ono F, Ageyama N, Yagami KI, Ishii K, Tamaoka A, Yasutomi Y, Shimozawa N.   +7 more
europepmc   +1 more source