Works matching Tangier disease

Results: 114

Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy.

Published in:

2016

By:

Sinha, Sanjib;
Nagappa, Madhu;
Taly, Arun B.;
Pooja, M.;
Bindu, P. S.;
N., Gayathri;
Mahadevan, Anita;
Y. T., Chickabasaviah

Publication type:

Case Study

Tangier disease. A case with sensorimotor distal polyneuropathy and lipid accumulation in striated muscle and vasa nervorum.

Published in:

Acta Neuropathologica, 1985, v. 67, n. 1/2, p. 121, doi. 10.1007/BF00688132

By:

Marbini, A.;
Gemignani, F.;
Ferrarini, G.;
Maccari, S.;
Lucci, B.;
Bragaglia, M.;
Plancher, C.;
Vergani, C.

Publication type:

Article

Tangier disease: still more questions than answers.

Published in:

Cellular & Molecular Life Sciences, 2005, v. 62, n. 19/20, p. 2150, doi. 10.1007/s00018-005-5125-0

By:

Nofer, J.-R.;
Remaley, A. T.

Publication type:

Article

Characterization of Metalloelastase-Like Activity from the Plasma of a Patient with Tangier Disease.

Published in:

Biological Chemistry, 1991, v. 372, n. 2, p. 1057

By:

HORNEBECK, William;
HOMSY, Rania;
AYRAULT-JARRIERB, Maryse;
STANISLAVSKI, Lena;
ROBERT, Ladislas

Publication type:

Article

Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0143-3

By:

Sechi, Annalisa;
Dardis, Andrea;
Zampieri, Stefania;
Rabacchi, Claudio;
Zanoni, Paolo;
Calandra, Sebastiano;
Maglio, Giovanna De;
Pizzolitto, Stefano;
Maruotti, Valerio;
Muzio, Antonio Di;
Platt, Frances;
Bembi, Bruno

Publication type:

Article

Licht- und elektronenmikroskopische sowie cytometrische Untersuchungen an peripheren Nerven beim Morbus Tangier.

Published in:

Acta Neuropathologica, 1979, v. 45, n. 1, p. 53, doi. 10.1007/BF00691805

By:

Hager, H.;
Zimmermann, P.

Publication type:

Article

Nerve biopsy findings in two cases of Tangier disease.

Published in:

Acta Neuropathologica, 1973, v. 26, n. 4, p. 317, doi. 10.1007/BF00688079

By:

Kocen, R.;
King, R.;
Thomas, P.;
Haas, L.

Publication type:

Article

Unusual Mild Phenotype Presentation in an Elderly Patient with Homozygous Tangier Disease.

Published in:

2024

By:

Guardamagna, Ornella;
Bonardi, Renato;
Buganza, Raffaele;
Martino, Francesco;
Pisciotta, Livia;
de Sanctis, Luisa;
Bassareo, Pier Paolo

Publication type:

Case Study

Platelet activating factor levels and metabolism in tangier disease: a case study.

Published in:

2012

By:

Kolovou, Vana;
Papakonstantinou, Vasiliki D.;
Stamatakis, George;
Verouti, Sophia N.;
Xanthopoulou, Marianna N.;
Kolovou, Genovefa;
Demopoulos, Constantinos A.

Publication type:

Case Study

Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 7, p. 2596, doi. 10.3390/jcm12072596

By:

Barbosa-Gouveia, Sofía;
Fernández-Crespo, Silvia;
Lazaré-Iglesias, Héctor;
González-Quintela, Arturo;
Vázquez-Agra, Néstor;
Hermida-Ameijeiras, Álvaro

Publication type:

Article

Peripheral neuropathy in Tangier disease: A literature review and assessment.

Published in:

Journal of the Peripheral Nervous System, 2018, v. 23, n. 2, p. 88, doi. 10.1111/jns.12265

By:

Mercan, Metin;
Yayla, Vildan;
Altinay, Serdar;
Seyhan, Serhat

Publication type:

Article

The Role of High Density Lipoproteins in Lecithin: Cholesterol Acyltransferase Activity: Perspectives from Tangier Disease.

Published in:

Scandinavian Journal of Clinical & Laboratory Investigation, 1978, v. 38, n. s150, p. 98, doi. 10.1080/00365517809104907

By:

Assmann, G.;
Schmitz, G.;
Heckers, H.

Publication type:

Article

The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2025, v. 38, n. 3, p. 271, doi. 10.1515/jpem-2024-0335

By:

Öztürk, Selcan;
Doğan, Muhammet Ensar;
Kadıoğlu Yılmaz, Banu;
Güleç, Ayten;
Soylu Üstkoyuncu, Pembe;
Kardaş, Fatih;
Gümüş, Hakan;
Per, Hüseyin

Publication type:

Article

Tangier disease in a Turkish family.

Published in:

Pediatrics International, 2014, v. 56, n. 5, p. 777, doi. 10.1111/ped.12306

By:

Sahiner, Neriman;
Kocak, Mukadder;
Demirceken, Fulya;
Kisa, Ucler;
Ayva, Sebnem;
Kazkayasi, Mustafa

Publication type:

Article

Wild Type and Tangier Disease ABCA1 Mutants Modulate Cellular Amyloid-β Production Independent of Cholesterol Efflux Activity.

Published in:

Journal of Alzheimer's Disease, 2011, v. 27, n. 2, p. 441, doi. 10.3233/JAD-2011-110521

By:

Kim, Woojin S.;
Hill, Andrew F.;
Fitzgerald, Michael L.;
Freeman, Mason W.;
Evin, Genevieve;
Garner, Brett

Publication type:

Article

The role of HDL in reverse cholesterol transport and its disturbances in Tangier disease and HDL deficiency with xanthomas.

Published in:

European Heart Journal, 1990, v. 11, n. suppl_E, p. 197, doi. 10.1093/eurheartj/11.suppl_e.197

By:

Schmitz, G.;
Brüning, T.;
Williamson, E.;
Nowicka, G.

Publication type:

Article

Elevated complement activities of sera from patients with high density lipoprotein deficiency (Tangier disease): the presence of normal level of clusterin and the possible implication in the atherosclerosis.

Published in:: Clinical & Experimental Immunology, 1993, v. 93, n. 2, p. 242
Publication type:: Article

Tangier Disease.

Published in:

American Journal of Cardiovascular Drugs, 2012, v. 12, n. 5, p. 303, doi. 10.1007/BF03261839

By:

Puntoni, Mariarita;
Sbrana, Francesco;
Bigazzi, Federico;
Sampietro, Tiziana

Publication type:

Article

The Interaction between Nef Protein and ABCA1 Mutants in Tangier Disease.

Published in:

Journal of Health Disparities Research & Practice, 2019, v. 12, n. 4, p. 30

By:

White, Jaden;
Bukrinsky, Michael;
Brichacek, Beda;
Darwish, Christina

Publication type:

Article

Decreased Cholesterol Efflux from Fibroblasts of a Patient without Tangier Disease, but with Markedly Reduced High Density Lipoprotein Cholesterol Levels.

Published in:

Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 3, p. 836, doi. 10.1210/jcem.83.3.4642

By:

Eberhart, Gretchen P.;
Mendez, Armando J.;
Freeman, Mason W.

Publication type:

Article

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.

Published in:

2003

By:

Züchner S;
Sperfeld AD;
Senderek J;
Sellhaus B;
Hanemann CO;
Schröder JM;
Züchner, Stephan;
Sperfeld, Anne D;
Senderek, Jan;
Sellhaus, Bernd;
Hanemann, Clemens Oliver;
Schröder, J Michael

Publication type:

journal article

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.

Published in:

Brain: A Journal of Neurology, 2003, v. 126, n. 4, p. 920, doi. 10.1093/brain/awg074

By:

S. Züchner;
A.D. Sperfeld;
J. Senderek;
B. Sellhaus;
C.O. Hanemann;
J.M. Schröder

Publication type:

Article

Tonsil with Tangier disease.

Published in:

ENT: Ear, Nose & Throat Journal, 2003, v. 82, n. 3, p. 178, doi. 10.1177/014556130308200308

By:

Nelson, Brenda L.;
Thompson, Lester D.R.

Publication type:

Article

A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation.

Published in:

Frontiers in Neurology, 2016, v. 7, p. 1, doi. 10.3389/fneur.2016.00185

By:

Ceccanti, Marco;
Cambieri, Chiara;
Frasca, Vittorio;
Onesti, Emanuela;
Biasiotta, Antonella;
Giordano, Carla;
Bruno, Sabina M.;
Testino, Giancarlo;
Lucarelli, Marco;
Arca, Marcello;
Inghilleri, Maurizio

Publication type:

Article

Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease.

Published in:

2014

By:

Sechi, Annalisa;
Dardis, Andrea;
Zampieri, Stefania;
Rabacchi, Claudio;
Zanoni, Paolo;
Calandra, Sebastiano;
De Maglio, Giovanna;
Pizzolitto, Stefano;
Maruotti, Valerio;
Di Muzio, Antonio;
Platt, Frances;
Bembi, Bruno

Publication type:

journal article

Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease.

Published in:

Journal of Neurology, 2012, v. 259, n. 6, p. 1222, doi. 10.1007/s00415-011-6340-2

By:

Zyss, Julie;
Béhin, Anthony;
Couvert, Philippe;
Bouhour, Françoise;
Sassolas, Agnès;
Kolev, Ivan;
Denys, Violaine;
Vial, Christophe;
Lacour, A.;
Carrié, Alain;
Stojkovic, Tanya

Publication type:

Article

Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 7, p. 366, doi. 10.1007/s100380200051

By:

Ishii, J.;
Nagano, M.;
Kujiraoka, T.;
Ishihara, M.;
Egashira, T.;
Takada, D.;
Tsuji, M.;
Hattori, H.;
Emi, M.

Publication type:

Article

Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 6, p. 325, doi. 10.1007/s100380200044

By:

Guo, Z.;
Inazu, A.;
Yu, W.;
Suzumura, T.;
Okamoto, M.;
Nohara, A.;
Higashikata, T.;
Sano, R.;
Wakasugi, K.;
Hayakawa, T.;
Yoshida, K.;
Suehiro, T.;
Schmitz, G.;
Mabuchi, H.

Publication type:

Article

Coronary Heart Disease Prevalence and Other Clinical Features in Familial High-Density Lipoprotein Deficiency (Tangier Disease).

Published in:

Annals of Internal Medicine, 1980, v. 93, n. 2, p. 261, doi. 10.7326/0003-4819-93-2-261

By:

Schaefer, Ernst J.;
Zech, Loren A.;
Schwartz, David E.;
Brewer Jr., H. Bryan

Publication type:

Article

Tangier disease with unusual clinical manifestations.

Published in:

Clinical Genetics, 2003, v. 63, n. 4, p. 323, doi. 10.1034/j.1399-0004.2003.00056.x

By:

Kolovou, Genovefa D.;
Wade, David P.;
Sengupta, Ranjita;
Cokkinos, Dennis V.

Publication type:

Article

Tangier Disease.

Published in:: Annals of Internal Medicine, 1961, v. 55, n. 6, p. 1016
Publication type:: Article

ABC1: The gene for Tangier disease and beyond.

Published in:

Nutrition Reviews, 2000, v. 58, n. 3, p. 76

By:

Ordovas, Jose M.;
Mayer, Jean

Publication type:

Article

Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and Abc1-deficient mice.

Published in:

Nature Genetics, 2000, v. 24, n. 2, p. 192, doi. 10.1038/72869

By:

Orsó, Evelyn;
Broccardo, Cyril;
Kaminski, Wolfgang E.;
Böttcher, Alfred;
Liebisch, Gerhard;
Drobnik, Wolfgang;
Götz, Alexandra;
Chambenoit, Olivier;
Diederich, Wendy;
Langmann, Thomas;
Spruss, Thilo;
Luciani, Marie-Francoise;
Rothe, Gregor;
Lackner, Karl J.;
Chimini, Giovanna;
Schmitz, Gerd

Publication type:

Article

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

Published in:

Nature Genetics, 1999, v. 22, n. 4, p. 336, doi. 10.1038/11905

By:

Brooks-Wilson, Angela;
Marcil, Michel;
Clee, Susanne M.;
Zhang, Lin-Hua;
Roomp, Kirsten;
van Dam, Marjel;
Yu, Lu;
Brewer, Carl;
Collins, Jennifer A.;
Molhuizen, Henri O.F.;
Loubser, Odell;
Ouelette, B.F. Francis;
Fichter, Keith;
Ashbourne-Excoffon, Katherine J.D.;
Sensen, Christoph W.;
Scherer, Stephen;
Mott, Stephanie;
Denis, Maxime;
Martindale, Duane

Publication type:

Article

The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.

Published in:

Nature Genetics, 1999, v. 22, n. 4, p. 347, doi. 10.1038/11914

By:

Bodzioch, Marek;
Orsó, Evelyn;
Klucken, Jochen;
Langmann, Thomas;
Böttcher, Alfred;
Diederich, Wendy;
Drobnik, Wolfgang;
Barlage, Stefan;
Büchler, Christa;
Porsch-Özcürümez, Mustafa;
Kaminski, Wolfgang E.;
Hahmann, Harry W.;
Oette, Kurt;
Rothe, Gregor;
Aslanidis, Charalampos;
Lackner, Karl J.;
Schmitz, Gerd

Publication type:

Article

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.

Published in:

Nature Genetics, 1999, v. 22, n. 4, p. 352, doi. 10.1038/11921

By:

Rust, Stephan;
Rosier, Marie;
Funke, Harald;
Real, José;
Amoura, Zahir;
Piette, Jean-Charles;
Deleuze, Jean-Francois;
Brewer, H. Bryan;
Duverger, Nicolas;
Denèfle, Patrice;
Assmann, Gerd

Publication type:

Article

Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.

Published in:

1998

By:

Rust, Stephan

Publication type:

Erratum

Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.

Published in:

Nature Genetics, 1998, v. 20, n. 1, p. 96, doi. 10.1038/1770

By:

Rust, Stephan;
Walter, Michael;
Funke, Harald;
von Eckardstein, Arnold;
Cullen, Paul;
Kroes, Hester Y.;
Hordijk, Roel;
Geisel, Jürgen;
Kastelein, John;
Molhuizen, Henri O.F.;
Schreiner, Michaela;
Mischke, Anja;
Hahmann, Harry W.;
Assmann, Gerd

Publication type:

Article

Sensory-motor not length-dependent multineuropathy followed by the syringomyelia-like phenotype: a novel presentation of Tangier disease.

Published in:

2022

By:

Sabatelli, Eleonora;
Luigetti, Marco;
Costantini, Umberto;
Lucioli, Gabriele;
Conte, Amelia

Publication type:

Case Study

Rare health conditions 10: Tangier disease, glioblastoma multiforme, Feingold syndrome.

Published in:

British Journal of Healthcare Assistants, 2018, v. 12, n. 3, p. 118, doi. 10.12968/bjha.2018.12.3.118

By:

Barber, Chris

Publication type:

Article

Endoneurial ATPase activity in tangier disease and other peripheral neuropathies.

Published in:

Muscle & Nerve, 1984, v. 7, n. 6, p. 447, doi. 10.1002/mus.880070606

By:

Sutherland, Wayne H. F.;
Pollock, Martin

Publication type:

Article

Nerve high-resolution ultrasonography in tangier disease.

Published in:

2019

By:

Pasquale, Antonella Di;
Leonardi, Luca;
Fionda, Laura;
Vanoli, Fiammetta;
Garibaldi, Matteo;
Inghilleri, Maurizio;
Ceccanti, Marco;
Cambieri, Chiara;
Onesti, Emanuela;
Antonini, Giovanni

Publication type:

journal article

Haemolytic anaemia in analpha-lipoproteinaemia (Tangier disease): morphological, biochemical, and biophysical properties of the red blood cell.

Published in:

British Journal of Haematology, 1989, v. 72, n. 2, p. 272, doi. 10.1111/j.1365-2141.1989.tb07694.x

By:

Reinhart, Walter H.;
Gössi, Urs;
Bütikofer, Peter;
Ott, Peter;
Sigrist, Hans;
Schatzmann, Hans-Jürg;
Lutz, Hans U.;
Straub, P. Werner

Publication type:

Article

Wild type and Tangier disease ABCA1 mutants modulate cellular amyloid-β production independent of cholesterol efflux activity.

Published in:

2011

By:

Kim WS;
Hill AF;
Fitzgerald ML;
Freeman MW;
Evin G;
Garner B;
Kim, Woojin S;
Hill, Andrew F;
Fitzgerald, Michael L;
Freeman, Mason W;
Evin, Genevieve;
Garner, Brett

Publication type:

journal article

Early-onset atherosclerosis in a patient with Tangier disease: Not all that is gold glitters.

Published in:

Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 4, p. 421, doi. 10.33963/KP.a2023.0061

By:

Silva, Gualter;
Brandão, Mariana;
Rocha, Mariana;
Ferreira, Wilson;
Silva, Marisa;
Fontes-Carvalho, Ricardo

Publication type:

Article

ABC1: the gene for Tangier disease and beyond.

Published in:

2000

By:

Ordovas JM

Publication type:

Journal Article

Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature.

Published in:

Acta Neurologica Scandinavica, 1985, v. 72, n. 5, p. 495, doi. 10.1111/j.1600-0404.1985.tb00907.x

By:

Pietrini, V.;
Rizzuto, N.;
Vergani, C.;
Zen, F.;
Milone, F. Ferro

Publication type:

Article

Digestive tract involvement in an infant and a child with Tangier disease.

Published in:

1998

By:

Lachaux, Alain;
Sassolas, Agnès;
Loras-Duclaux, I.;
Le Gall, Catherine;
Bouvier, Raymonde;
Lachaux, A;
Sassolas, A;
Le Gall, C;
Bouvier, R

Publication type:

journal article

Tangierská nemoc v rodině s fenotypem familiární hypercholesterolemie.

Published in:

Internal Medicine / Vnitrni Lekarstvi, 2020, v. 66, n. 7, p. 443

By:

Urbánek, Robin;
Tichý, Lukáš;
Freiberger, Tomáš

Publication type:

Article

HDL deficiency and atherosclerosis: lessons from Tangier disease.

Published in:

2004

By:

Hovingh GK;
Kuivenhoven JA;
Bisoendial RJ;
Groen AK;
van Dam M;
van Tol A;
Wellington C;
Hayden MR;
Smelt AHM;
Kastelein JJP;
Hovingh, G K;
Kuivenhoven, J A;
Bisoendial, R J;
Groen, A K;
van Dam, M;
van Tol, A;
Wellington, C;
Hayden, M R;
Smelt, A H M;
Kastelein, J J P

Publication type:

Case Study