Works matching DE "NIEMANN-Pick diseases"

Results: 689

Correction: Reporting preclinical gene therapy studies in the field of Niemann-Pick type C disease according to the ARRIVE guidelines.

Published in:

2025

By:

Rasmussen, Charlotte Laurfelt Munch;
Burkhart, Annette;
Moos, Torben;
Thomsen, Louiza Bohn

Publication type:

Correction Notice

Reporting preclinical gene therapy studies in the field of Niemann-Pick type C disease according to the ARRIVE guidelines.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03479-1

By:

Rasmussen, Charlotte Laurfelt Munch;
Burkhart, Annette;
Moos, Torben;
Thomsen, Louiza Bohn

Publication type:

Article

A new player in the puzzle of filovirus entry.

Published in:

Nature Reviews Microbiology, 2012, v. 10, n. 5, p. 317, doi. 10.1038/nrmicro2764

By:

White, Judith M.;
Schornberg, Kathryn L.

Publication type:

Article

Infantile form of Niemann-Pick disease type C with demyelination: An uncommon feature.

Published in:

2019

By:

Tiewsoh, Karalanglin;
Gupta, Kirti;
Bhatia, Anmol

Publication type:

journal article

Lysosomal Targeting of β‐Cyclodextrin.

Published in:

Chemistry - A European Journal, 2023, v. 29, n. 4, p. 1, doi. 10.1002/chem.202203252

By:

Mascherpa, Andrea;
Ishii, Nozomii;
Tayagui, Ayelen;
Liu, Jiang;
Sollogoub, Matthieu;
Fairbanks, Antony J.

Publication type:

Article

CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09801-1

By:

Reyhani-Ardabili, Mehran;
Fathi, Mohadeseh;
Ghafouri-Fard, Soudeh

Publication type:

Article

Iron chelation by deferiprone does not rescue the Niemann-Pick Disease Type C1 mouse model.

Published in:

BioMetals, 2020, v. 33, n. 2/3, p. 87, doi. 10.1007/s10534-020-00233-5

By:

Hung, Ya Hui;
Lotan, Amit;
Yeshurun, Shlomo;
Schroeder, Anna;
Bush, Ashley I.

Publication type:

Article

Imaging of changes in copper trafficking and redistribution in a mouse model of Niemann-Pick C disease using positron emission tomography.

Published in:

BioMetals, 2019, v. 32, n. 2, p. 293, doi. 10.1007/s10534-019-00185-5

By:

Baguña Torres, Julia;
Yu, Zilin;
Bordoloi, Jayanta;
Sunassee, Kavitha;
Smith, David;
Smith, Claire;
Chen, Oscar;
Purchase, Rupert;
Tuschl, Karin;
Spencer, John;
Platt, Frances;
Blower, Philip J.

Publication type:

Article

Evaluating metal ion salts as acid hydrolase mimics: metal-assisted hydrolysis of phospholipids at lysosomal pH.

Published in:

BioMetals, 2012, v. 25, n. 6, p. 1207, doi. 10.1007/s10534-012-9583-1

By:

Cepeda, Sarah;
Williams, Dominique;
Grant, Kathryn

Publication type:

Article

Increased copper levels in in vitro and in vivo models of Niemann-Pick C disease.

Published in:

BioMetals, 2012, v. 25, n. 4, p. 777, doi. 10.1007/s10534-012-9546-6

By:

Vázquez, Mary;
Martínez, Pablo;
Alvarez, Alejandra;
González, Mauricio;
Zanlungo, Silvana

Publication type:

Article

Two Cases of Niemann-Pick Disease Type C Presenting with Neonatal Cholestasis: Case Reports.

Published in:

2023

By:

Bhanu, Yaseena;
Kasula, Linga Reddy;
Kotha, Rakesh;
Madireddy, Alimelu

Publication type:

Case Study

Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 79, doi. 10.3390/ijns10040079

By:

Gragnaniello, Vincenza;
Cazzorla, Chiara;
Gueraldi, Daniela;
Loro, Christian;
Porcù, Elena;
Salviati, Leonardo;
Burlina, Alessandro P.;
Burlina, Alberto B.

Publication type:

Article

Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030039

By:

Kubaski, Francyne;
Burlina, Alberto;
Polo, Giulia;
Pereira, Danilo;
Herbst, Zackary M.;
Silva, Camilo;
Trapp, Franciele B.;
Michelin-Tirelli, Kristiane;
Lopes, Franciele F.;
Burin, Maira G.;
Brusius-Facchin, Ana Carolina;
Netto, Alice B. O.;
Faqueti, Larissa;
Iop, Gabrielle D.;
Poletto, Edina;
Giugliani, Roberto

Publication type:

Article

Spectrum of Movement Disorders in Niemann-Pick Disease Type C.

Published in:

Tremor & Other Hyperkinetic Movements, 2022, v. 12, p. 1, doi. 10.5334/tohm.701

By:

DEVARAJ, RASHMI;
MAHALE, ROHAN R.;
SINDHU, D. M.;
STEZIN, ALBERT;
KAMBLE, NITISH;
HOLLA, VIKRAM V.;
NETRAVATHI, M.;
YADAV, RAVI;
KUMAR, PRAMOD

Publication type:

Article

Abnormal Vertical EyeMovements as a Clue for Diagnosis of Niemann-Pick Type C.

Published in:

Tremor & Other Hyperkinetic Movements, 2018, p. 1, doi. 10.7916/D8XS7BGD

By:

Gupta, Deepak K.;
Blanco-Palmero, Victor A.;
Chung, Wendy K.;
Sheng-Han Kuo

Publication type:

Article

Effect of topically applied sphingomyelin-based liposomes on the ceramide level in a three-dimensional cultured human skin model.

Published in:

Journal of Liposome Research, 2010, v. 20, n. 1, p. 49, doi. 10.3109/08982100903062597

By:

Tokudome, Yoshihiro;
Uchida, Raina;
Yokote, Takeshi;
Todo, Hiroaki;
Hada, Nobuko;
Kon, Tatsuhiko;
Yasuda, Junko;
Hayashi, Hidenori;
Hashimoto, Fumie;
Sugibayashi, Kenji

Publication type:

Article

SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency.

Published in:

Hereditas, 2023, v. 160, n. 1, p. 1, doi. 10.1186/s41065-023-00272-1

By:

Wang, Ruisong;
Qin, Ziyi;
Huang, Long;
Luo, Huiling;
Peng, Han;
Zhou, Xinyu;
Zhao, Zhixiang;
Liu, Mingyao;
Yang, Pinhong;
Shi, Tieliu

Publication type:

Article

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Published in:

Hereditas, 2022, v. 159, n. 1, p. 1, doi. 10.1186/s41065-022-00224-1

By:

Abtahi, Rezvan;
Karimzadeh, Parvaneh;
Aryani, Omid;
Akbarzadeh, Diba;
Salehpour, Shadab;
Rezayi, Alireza;
Tonekaboni, Seyed Hassan;
Emameh, Reza Zolfaghari;
Houshmand, Massoud

Publication type:

Article

NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 12, doi. 10.3390/jcm9010012

By:

Rodriguez-Gil, Jorge L.;
Watkins-Chow, Dawn E.;
Baxter, Laura L.;
Yokoyama, Tadafumi;
Zerfas, Patricia M.;
Starost, Matthew F.;
Gahl, William A.;
Malicdan, May Christine V.;
Porter, Forbes D.;
Platt, Frances M.;
Pavan, William J.

Publication type:

Article

Anaesthesia recommendations for Niemann-Pick Type C.

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, p. 1, doi. 10.19224/ai2022.S236

By:

Quezado, Zenaide;
Ning Miao

Publication type:

Article

Anaesthesia recommendations for Niemann-Pick Type C.

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, p. 1, doi. 10.19224/ai2022.S236

By:

Quezado, Zenaide;
Ning Miao

Publication type:

Article

The mind's eye: A neuro-ophthalmological perspective on Niemann-Pick type C disease.

Published in:

African Vision & Eye Health, 2019, v. 78, n. 1, p. 1, doi. 10.4102/aveh.v78i1.502

By:

Beedasy, Priyanka;
Moodley, Anand;
Marais, Adrian D.

Publication type:

Article

Manifestações clínicas presentes na doença de Niemann-Pick tipo c em diferentes faixas etárias: uma revisão da literatura.

Published in:

Revista Sustinere, 2021, v. 9, p. 173, doi. 10.12957/sustinere.2021.50914

By:

Lira da Silva, Barbara Beatriz;
Rodrigues Alves, Ana Klara;
de Brito Pereira, Raquel;
Rodrigues Alve, Ana Karla;
Sampaio Teixeira, Kelly Sivocy

Publication type:

Article

Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease.

Published in:

Annals of Clinical & Translational Neurology, 2016, v. 3, n. 5, p. 366, doi. 10.1002/acn3.306

By:

Davidson, Cristin D.;
Fishman, Yonatan I.;
Puskás, István;
Szemán, Julianna;
Sohajda, Tamás;
McCauliff, Leslie A.;
Sikora, Jakub;
Storch, Judith;
Vanier, Marie T.;
Szente, Lajos;
Walkley, Steven U.;
Dobrenis, Kostantin

Publication type:

Article

Global and Targeted Metabolomics for Revealing Metabolomic Alteration in Niemann-Pick Disease Type C Model Cells.

Published in:

Metabolites (2218-1989), 2024, v. 14, n. 10, p. 515, doi. 10.3390/metabo14100515

By:

Watanabe, Masahiro;
Maekawa, Masamitsu;
Miyoshi, Keitaro;
Sato, Toshihiro;
Sato, Yu;
Kumondai, Masaki;
Fukasawa, Masayoshi;
Mano, Nariyasu

Publication type:

Article

Validating a Major Quantitative Trait Locus and Predicting Candidate Genes Associated With Kernel Width Through QTL Mapping and RNA-Sequencing Technology Using Near-Isogenic Lines in Maize.

Published in:

Frontiers in Plant Science, 2022, p. 1, doi. 10.3389/fpls.2022.935654

By:

Zhao, Yanming;
Ma, Xiaojie;
Zhou, Miaomiao;
Wang, Junyan;
Wang, Guiying;
Su, Chengfu

Publication type:

Article

The natural history of cerebellar degeneration of Niemann- Pick C mice monitored in vitro.

Published in:

Neuropathology & Applied Neurobiology, 2014, v. 40, n. 7, p. 933, doi. 10.1111/nan.12154

By:

Marschalek, Nils;
Albert, Frank;
Meske, Volker;
Ohm, Thomas Georg

Publication type:

Article

Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease.

Published in:

Case Reports in Neurological Medicine, 2014, p. 1, doi. 10.1155/2014/785890

By:

Piña-Aguilar, Raul E.;
Vera-Loaiza, Aurea;
Chacón-Camacho, Oscar F.;
Zenteno, Juan Carlos;
Nuñez-Orozco, Lilia;
Santillán-Hernández, Yuritzi

Publication type:

Article

Pulmonary involvement in Niemann-Pick C type 1.

Published in:

2018

By:

Staretz-Chacham, Orna;
Aviram, M.;
Morag, I.;
Goldbart, A.;
Hershkovitz, E.

Publication type:

journal article

Niemann-Pick disease type C in the newborn period: a single-center experience.

Published in:

2017

By:

Gumus, Ersin;
Haliloglu, Goknur;
Karhan, Asuman;
Demir, Hulya;
Gurakan, Figen;
Topcu, Meral;
Yuce, Aysel;
Karhan, Asuman Nur

Publication type:

journal article

Miglustat: A Review of Its Use in Niemann-Pick Disease Type C.

Published in:

2014

By:

Lyseng-Williamson, Katherine

Publication type:

Journal Article

Treatable metabolic psychoses that go undetected: What Niemann-Pick type C can teach us.

Published in:

International Journal of Psychiatry in Clinical Practice, 2012, v. 16, n. 3, p. 162, doi. 10.3109/13651501.2012.687451

By:

Klünemann, Hans-Hermann;
Santosh, Paramala J.;
Sedel, Frédéric

Publication type:

Article

Editorial.

Published in:

International Journal of Psychiatry in Clinical Practice, 2012, v. 16, n. 3, p. 161, doi. 10.3109/13651501.2012.708984

By:

Kasper, Siegfried

Publication type:

Article

A Potential Role for the Amyloid Precursor Protein in the Regulation of Interferon Signaling, Cholesterol Homeostasis, and Tau Phosphorylation in Niemann–Pick Disease Type C.

Published in:

Genes, 2024, v. 15, n. 8, p. 1066, doi. 10.3390/genes15081066

By:

Sanchez, Kayla L.;
Shin, Samuel D.;
Rajagopal, Naren P.;
White, Jacob B.;
Currais, Antonio;
Soriano-Castell, David;
Maher, Pamela;
Soriano, Salvador

Publication type:

Article

Differential Interferon Signaling Regulation and Oxidative Stress Responses in the Cerebral Cortex and Cerebellum Could Account for the Spatiotemporal Pattern of Neurodegeneration in Niemann–Pick Disease Type C.

Published in:

Genes, 2024, v. 15, n. 1, p. 101, doi. 10.3390/genes15010101

By:

Tolan, Andrew J.;
Sanchez, Kayla L.;
Shin, Samuel D.;
White, Jacob B.;
Currais, Antonio;
Soriano-Castell, David;
Wilson, Christopher G.;
Maher, Pamela;
Soriano, Salvador

Publication type:

Article

Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study.

Published in:

Genes, 2022, v. 13, n. 6, p. 973, doi. 10.3390/genes13060973

By:

Azab, Bilal;
Rabab'h, Omar;
Aburizeg, Dunia;
Mohammad, Hashim;
Dardas, Zain;
Mustafa, Lina;
Khasawneh, Ruba A.;
Awad, Heyam;
Hatmal, Ma'mon M.;
Altamimi, Eyad

Publication type:

Article

DRABAL: novel method to mine large high-throughput screening assays using Bayesian active learning.

Published in:

Journal of Cheminformatics, 2016, v. 8, n. 1, p. 1, doi. 10.1186/s13321-016-0177-8

By:

Soufan, Othman;
Ba-Alawi, Wail;
Afeef, Moataz;
Essack, Magbubah;
Kalnis, Panos;
Bajic, Vladimir

Publication type:

Article

Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.

Published in:

European Neurology, 2016, v. 75, n. 3/4, p. 113, doi. 10.1159/000444480

By:

Chamova, Teodora;
Kirov, andrey;
Guergueltcheva, Velina;
Todorov, Тihomir;
Bojinova, Veneta;
Zhelyazkova, Sashka;
Samuel, Jean;
Radionova, Melania;
Sarafov, Stayko;
Cherninkova, Sylvia;
Krastev, Stefan;
Todorova, Аlbena;
Tournev, Ivailo

Publication type:

Article

Video-Oculography Assessment in Neurodegenerative Ataxias and Niemann Pick Type C.

Published in:

Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2024, v. 61, n. 2, p. 101, doi. 10.29399/npa.28563

By:

Karaaslan, Zerrin;
Hanağası, Haşmet Ayhan;
Gurvit, İbrahim Hakan;
Bilgiç, Başar

Publication type:

Article

A Potentially Treatable Genetic Disorder Which Presented with Neuropsychiatric Involvement and Drug-Resistant Focal Epilepsy: Niemann-Pick Disease Type C.

Published in:

Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2024, v. 61, n. 2, p. 99, doi. 10.29399/npa.28717

By:

Altındağ, Ebru;
Alanay, Yasemin;
Baykan, Betul;
Dervent, Aysin

Publication type:

Article

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options.

Published in:

European Journal of Neurology, 2009, v. 16, n. 3, p. 297, doi. 10.1111/j.1468-1331.2008.02513.x

By:

Ludolph, A. C.;
Kassubek, J.;
Landwehrmeyer, B. G.;
Mandelkow, E.;
Mandelkow, E.-M.;
Burn, D. J.;
Caparros-Lefebvre, D.;
Frey, K. A.;
de Yebenes, J. G.;
Gasser, T.;
Heutink, P.;
Höglinger, G.;
Jamrozik, Z.;
Jellinger, K. A.;
Kazantsev, A.;
Kretzschmar, H.;
Lang, A. E.;
Litvan, I.;
Lucas, J. J.;
McGeer, P. L.

Publication type:

Article

BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains.

Published in:

PLoS ONE, 2018, p. 1, doi. 10.1371/journal.pone.0200344

By:

Causevic, Mirsada;
Dominko, Kristina;
Malnar, Martina;
Vidatic, Lea;
Cermak, Stjepko;
Pigoni, Martina;
Kuhn, Peer-Hendrik;
Colombo, Alessio;
Havas, Daniel;
Flunkert, Stefanie;
McDonald, Jessica;
Gunnersen, Jenny M.;
Hutter-Paier, Birgit;
Tahirovic, Sabina;
Windisch, Manfred;
Krainc, Dimitri;
Lichtenthaler, Stefan F.;
Hecimovic, Silva

Publication type:

Article

Niemann-Pick type C2 protein supplementation in experimental non-alcoholic fatty liver disease.

Published in:

PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0192728

By:

Christensen, Claus Uhrenholt;
Glavind, Emilie;
Thomsen, Karen Louise;
Kim, Yong Ook;
Heebøll, Sara;
Schuppan, Detlef;
Hamilton-Dutoit, Stephen;
Würtz Heegaard, Christian;
Grønbæk, Henning

Publication type:

Article

Correction: Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1.

Published in:

2018

By:

Yergey, Alfred L.;
Blank, Paul S.;
Cologna, Stephanie M.;
Backlund, Peter S.;
Porter, Forbes D.;
Darling, Allan J.

Publication type:

Correction Notice

Anesthetic approach to Niemann-Pick Type C patient for dental treatment.

Published in:

2016

By:

Hande Arpacı, Ayşe

Publication type:

Letter to the Editor

MOLECULAR AND FUNCTIONAL STUDY OF PEDIATRIC PATIENTS WITH NIEMANN-PICK C IN ARGENTINA.

Published in:

Medicina (Buenos Aires), 2022, v. 82, n. 2, p. 308

By:

TERADA, CLAUDIA;
MIRARCHI, FEDERICO;
MARINO, ROXANA;
EIROA, HERNÁN;
BERENSZTEIN, ESPERANZA

Publication type:

Article

MUCOPOLYSACCHARIDE DISORDERS AND OTHER LYSOSOMAL STORAGE DISEASES.

Published in:: 2007
Publication type:: Abstract

PACIENŢII CU RISC DIN CAUZA FONDULUI ETNIC DE BAZĂ.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2009, v. 58, n. 4, p. 331

By:

Popescu, Valeriu

Publication type:

Article

Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis.

Published in:

2019

By:

Hastings, Caroline;
Vieira, Camilo;
Liu, Benny;
Bascon, Cyrus;
Gao, Claire;
Wang, Raymond Y.;
Casey, Alicia;
Hrynkow, Sharon

Publication type:

journal article

Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review.

Published in:

2019

By:

Pineda, Mercedes;
Juríčková, Katarína;
Karimzadeh, Parvaneh;
Kolniková, Miriam;
Malinová, Věra;
Torres, Juan;
Kolb, Stefan A.

Publication type:

journal article