Compounds > filipin
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filipin and Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia

filipin has been researched along with Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia in 19 studies

Research

Studies (19)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (10.53)29.6817
2010's16 (84.21)24.3611
2020's1 (5.26)2.80

Authors

AuthorsStudies
Berensztein, E; Eiroa, H; Marino, R; Mirarchi, F; Terada, C1
Battisti, C; De Santi, MM; Federico, A; Formichi, P; Guazzo, R; Radi, E; Rossi, B; Tarquini, E; Tripodi, SA1
Abdo, SM; Bodamer, O; Chen, P; Cho, M; Hung, C; Leeman, K; Mihalek, I; O'Donnell-Luria, A; Rohanizadegan, M; Sanders, M1
Bonatto, MP; Burin, MG; de Oliveira Schmitt Ribas, G; Giugliani, R; Hammerschmidt, TG; Kessler, RG; Michelin-Tirelli, K; Saraiva-Pereira, ML; Souza, FTS; Trapp, F; Vargas, CR1
Feng, X; Luo, J; Rolfs, A; Yang, F1
Bang, AG; Feltes, M; Kaufman, RJ; Ory, DS; Pugach, EK1
Bautista, J; Cáceres-Redondo, MT; Carrillo, F; Coll, MJ; Cordones, I; Escudero, M; Jesús, S; Macías-Vidal, J; Mir, P1
Eto, Y; Ida, H; Matsuda, S; Narita, A; Noguchi, A; Ohashi, T; Ohno, K; Sakai, N; Shinpoo, M; Takahashi, T; Takamura, A; Yamamoto, M1
Anheim, M; Broussolle, E; Fleury-Lesaunier, MC; Gervais-Bernard, H; Hirsch, E; Lagha-Boukbiza, O; Latour, P; Thobois, S; Tranchant, C; Valenti-Hirsch, MP; Vanier, MT1
Hyun, SH; Kulkarni, A; McCauliff, LA; Mondjinou, YA; Paul, L; Storch, J; Thompson, DH; Wirth, M; Wu, Z; Zhang, Z1
Latour, P; Vanier, MT1
Hamatani, M; Jingami, N; Kinoshita, H; Nakasone, N; Ninomiya, H; Takahashi, R; Uemura, K; Yamakado, H1
Burin, M; de Mari, J; Deon, M; Giugliani, R; Kessler, R; Mescka, C; Michelin, K; Ribas, GS; Saraiva-Pereira, ML; Souza, HM; Trapp, F; Vargas, CR1
Cebolla, JJ; De Castro-Orós, I; Dominguez, C; Irún, P; Mallén, M; Mozas, P; Pocoví, M; Pueyo, MJ; Rodriguez-Sureda, V1
Abel, LA; Bowman, EA; Fietz, M; Velakoulis, D; Walterfang, M1
D'Souza-Schorey, C; Pietrini, SD; Schweitzer, JK1
Adams, S; Fietz, M; Kornberg, A; Velakoulis, D; Walterfang, M1
Mengel, E; Runz, H; Tängemo, C; Theiss, S; Weber, D1
Dimbil, UJ; Klein, AD; Lopez, ME; Scott, MP1

Other Studies

19 other study(ies) available for filipin and Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia

ArticleYear
Molecular and functional study of pediatric patients with Niemann-Pick C in Argentina.
    Medicina, 2022, Volume: 82, Issue:2

    Topics: Argentina; Child; Filipin; Humans; Infant; Mutation; Niemann-Pick Disease, Type C

2022
Primary cilium alterations and expression changes of Patched1 proteins in niemann-pick type C disease.
    Journal of cellular physiology, 2018, Volume: 233, Issue:1

    Topics: Acetylation; Adolescent; Adult; Androstenes; Blotting, Western; Carrier Proteins; Case-Control Studies; Cell Separation; Cells, Cultured; Cholesterol; Cilia; Cytoplasm; Down-Regulation; Female; Fibroblasts; Filipin; Fluorescent Antibody Technique; Humans; Intracellular Signaling Peptides and Proteins; Male; Membrane Glycoproteins; Microscopy, Fluorescence; Middle Aged; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Patched-1 Receptor; Primary Cell Culture; Tubulin; Young Adult

2018
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.
    Cold Spring Harbor molecular case studies, 2017, Volume: 3, Issue:6

    Topics: Carrier Proteins; Exome; Exome Sequencing; Filipin; Humans; Hydrops Fetalis; Infant, Newborn; Intracellular Signaling Peptides and Proteins; Liver; Liver Failure, Acute; Male; Membrane Glycoproteins; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C

2017
Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
    International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2018, Volume: 66

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Child; Cholestanols; Female; Filipin; Glycoside Hydrolase Inhibitors; Hexosaminidases; Humans; Male; Membrane Glycoproteins; Mutation; Niemann-Pick Disease, Type C; Skin; Young Adult

2018
Lovastatin promotes myelin formation in NPC1 mutant oligodendrocytes.
    Journal of the neurological sciences, 2018, 03-15, Volume: 386

    Topics: Animals; Animals, Newborn; Anticholesteremic Agents; Antiviral Agents; Basic Helix-Loop-Helix Transcription Factors; Cell Differentiation; Cells, Cultured; Cerebral Cortex; Culture Media, Conditioned; Disease Models, Animal; Filipin; Gene Expression Regulation; Lovastatin; Mice; Mice, Inbred BALB C; Mice, Transgenic; Mutation; Myelin Proteins; Myelin Sheath; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Oligodendrocyte Transcription Factor 2; Oligodendroglia

2018
High-content screen for modifiers of Niemann-Pick type C disease in patient cells.
    Human molecular genetics, 2018, 06-15, Volume: 27, Issue:12

    Topics: Biguanides; Carrier Proteins; Cholesterol; Drug Evaluation, Preclinical; Endoplasmic Reticulum; Fibroblasts; Filipin; Histone Deacetylase Inhibitors; Humans; Intracellular Signaling Peptides and Proteins; Lysosomal-Associated Membrane Protein 1; Lysosomes; Membrane Glycoproteins; Metabolome; Mutation, Missense; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C

2018
Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat.
    Parkinsonism & related disorders, 2013, Volume: 19, Issue:10

    Topics: 1-Deoxynojirimycin; Activities of Daily Living; Adult; Anti-Bacterial Agents; Carrier Proteins; Disability Evaluation; Enzyme Inhibitors; Filipin; Glycoside Hydrolase Inhibitors; Humans; Intracellular Signaling Peptides and Proteins; Male; Membrane Glycoproteins; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Phenotype; Psychomotor Performance; Saccades

2013
The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear.
    Molecular genetics and metabolism, 2013, Volume: 110, Issue:3

    Topics: Adolescent; Blood Cells; Child; Child, Preschool; Female; Filipin; Humans; Male; Niemann-Pick Disease, Type C; Staining and Labeling; Young Adult

2013
Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.
    Journal of neurology, 2014, Volume: 261, Issue:1

    Topics: Adolescent; Adult; Age of Onset; Brain Waves; Carrier Proteins; Child; Child, Preschool; Electroencephalography; Female; Filipin; Humans; Intracellular Signaling Peptides and Proteins; Male; Membrane Glycoproteins; Movement Disorders; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Young Adult

2014
Synthesis of 2-hydroxypropyl-β-cyclodextrin/pluronic-based polyrotaxanes via heterogeneous reaction as potential Niemann-Pick type C therapeutics.
    Biomacromolecules, 2013, Dec-09, Volume: 14, Issue:12

    Topics: 2-Hydroxypropyl-beta-cyclodextrin; beta-Cyclodextrins; Cells, Cultured; Cholesterol; Cyclodextrins; Drug Carriers; Endocytosis; Fibroblasts; Filipin; Humans; Molecular Weight; Niemann-Pick Disease, Type C; Poloxamer; Rotaxanes

2013
Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.
    Methods in cell biology, 2015, Volume: 126

    Topics: Animals; Biomarkers; Cells, Cultured; Cholesterol, LDL; Filipin; Humans; Niemann-Pick Disease, Type C; Staining and Labeling

2015
A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome.
    Rinsho shinkeigaku = Clinical neurology, 2016, 06-22, Volume: 56, Issue:6

    Topics: Adult; Autistic Disorder; Fibroblasts; Filipin; Genetic Testing; Humans; Male; Niemann-Pick Disease, Type C; Phenotype; Schizophrenia; Staining and Labeling; Syndrome; Tomography, Emission-Computed, Single-Photon

2016
Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.
    Clinica chimica acta; international journal of clinical chemistry, 2016, Aug-01, Volume: 459

    Topics: 1-Deoxynojirimycin; Brazil; Carrier Proteins; Cholestanols; Filipin; Glycoproteins; Hexosaminidases; Humans; Intracellular Signaling Peptides and Proteins; Membrane Glycoproteins; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Staining and Labeling; Vesicular Transport Proteins

2016
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
    Journal of translational medicine, 2017, 02-21, Volume: 15, Issue:1

    Topics: Adolescent; Adult; Chemokines, CC; Child; Child, Preschool; Computer Simulation; Demography; Family; Female; Filipin; Hexosaminidases; Humans; Infant; Male; Middle Aged; Mutation; Niemann-Pick Disease, Type C; Oxysterols; Prospective Studies; Young Adult

2017
Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.
    Neurology, 2009, Mar-24, Volume: 72, Issue:12

    Topics: Adult; Biomarkers; Brain Stem; Cholesterol; Disease Progression; Esterification; Female; Filipin; Frontal Lobe; Humans; Male; Neurologic Examination; Neuropsychological Tests; Niemann-Pick Disease, Type C; Ocular Motility Disorders; Predictive Value of Tests; Psychomotor Performance; Reaction Time; Reflex, Abnormal; Saccades; Severity of Illness Index

2009
ARF6-mediated endosome recycling reverses lipid accumulation defects in Niemann-Pick Type C disease.
    PloS one, 2009, Volume: 4, Issue:4

    Topics: ADP-Ribosylation Factor 6; ADP-Ribosylation Factors; Androstenes; Anticholesteremic Agents; Cholesterol; Endosomes; Filipin; Golgi Apparatus; HeLa Cells; Humans; Lipid Metabolism; Lysosomal Membrane Proteins; Niemann-Pick Disease, Type C; Recombinant Fusion Proteins; RNA, Small Interfering

2009
Post-ictal psychosis in adolescent Niemann-Pick disease type C.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    Topics: Adolescent; Age Factors; Anticonvulsants; Cells, Cultured; Cholesterol Esters; Esterification; Fibroblasts; Filipin; Gait Disorders, Neurologic; Humans; Magnetic Resonance Imaging; Male; Niemann-Pick Disease, Type C; Psychotic Disorders; Seizures; Treatment Outcome; Valproic Acid

2010
Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.
    Journal of lipid research, 2011, Volume: 52, Issue:4

    Topics: ATP Binding Cassette Transporter 1; ATP-Binding Cassette Transporters; Carrier Proteins; Cells, Cultured; Cholesterol; Cholesterol, HDL; DNA Mutational Analysis; Filipin; Glycoproteins; Humans; Intracellular Signaling Peptides and Proteins; Lysosomes; Membrane Glycoproteins; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; RNA Interference; Vesicular Transport Proteins

2011
Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder.
    The Journal of neuroscience : the official journal of the Society for Neuroscience, 2011, Mar-23, Volume: 31, Issue:12

    Topics: Animals; Ataxia; Blotting, Western; Body Weight; Cell Count; Dystonia; Filipin; Genes, Reporter; Genetic Therapy; Genotype; Immunohistochemistry; Inflammation; Intracellular Signaling Peptides and Proteins; Mice; Mice, Knockout; Microglia; Nesting Behavior; Neurons; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Proteins; Psychomotor Performance; Purkinje Fibers; Sterols; Survival

2011