Results 121 to 130 of about 3,599 (187)

Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia. [PDF]

Neurosciences (Riyadh), 2020
Alkhars FZ, Bo Ali AY, Almohanna MA, Almajhad NA.   +3 more
europepmc   +1 more source

Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease. [PDF]

Ophthalmol Sci
Huey J, Gupta P, Wendel B, Liu T, Bharadwaj P, Schwartz H, Kelly JP, Chang I, Chao JR, Sabesan R, Nagiel A, Mustafi D.   +11 more
europepmc   +1 more source

Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills. [PDF]

Orphanet J Rare Dis
Kayani S, BordesEdgar V, Lowden A, Nettesheim ER, Dahshi H, Messahel S, Minassian BA, Greenberg BM.   +7 more
europepmc   +1 more source

Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum. [PDF]

J Biomed Sci, 2020
Huber RJ.
europepmc   +1 more source

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses. [PDF]

CNS Drugs, 2019
Kohlschütter A, Schulz A, Bartsch U, Storch S.   +3 more
europepmc   +1 more source

Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses.

AJNR Am J Neuroradiol, 2020
Biswas A, Krishnan P, Amirabadi A, Blaser S, Mercimek-Andrews S, Shroff M.   +5 more
europepmc   +1 more source

Classification and natural history of the neuronal ceroid lipofuscinoses. [PDF]

J Child Neurol, 2013
Mink JW, Augustine EF, Adams HR, Marshall FJ, Kwon JM.   +4 more
europepmc   +1 more source

Computed tomography provides enhanced techniques for longitudinal monitoring of progressive intracranial volume loss associated with regional neurodegeneration in ovine neuronal ceroid lipofuscinoses. [PDF]

Brain Behav, 2018
Russell KN, Mitchell NL, Anderson NG, Bunt CR, Wellby MP, Melzer TR, Barrell GK, Palmer DN.   +7 more
europepmc   +1 more source

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. [PDF]

Neurology, 2015
Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S.   +13 more
europepmc   +1 more source

Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses. [PDF]

Orphanet J Rare Dis, 2018
Sima N, Li R, Huang W, Xu M, Beers J, Zou J, Titus S, Ottinger EA, Marugan JJ, Xie X, Zheng W.   +10 more
europepmc   +1 more source