PMC Links for Books (Select 1494514) - PMC

Select item 83990821.

Gene supplementation of CYP27A1 in the liver restores bile acid metabolism in a mouse model of cerebrotendinous xanthomatosis

Sara Lumbreras, Ana Ricobaraza, Lucia Baila-Rueda, Manuela Gonzalez-Aparicio, Lucia Mora-Jimenez, Iker Uriarte, Maria Bunuales, Matias A. Avila, Maria J. Monte, Jose J.G. Marin, Ana Cenarro, Gloria Gonzalez-Aseguinolaza, Ruben Hernandez-Alcoceba

Mol Ther Methods Clin Dev. 2021 Sep 10; 22: 210–221. Published online 2021 Jul 21. doi: 10.1016/j.omtm.2021.07.002

PMCID:: PMC8399082

Abstract Article PDF–2.5M

Select item 83490762.

Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

Bianca M. L. Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C. Falik-Zaccai, Kate Hanman, Andrea Mignarri, Belina Sithole, Robert D. Steiner, Surabhi Verma, Gilad Yahalom, Tanyel Zubarioglu, Fanny Mochel, Antonio Federico

Orphanet J Rare Dis. 2021; 16: 353. Published online 2021 Aug 6. doi: 10.1186/s13023-021-01980-5

PMCID:: PMC8349076

Abstract Article PDF–1.0M

Select item 83337153.

Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings.

M T Dotti, A Federico, E Signorini, N Caputo, C Venturi, G Filosomi, G C Guazzi

AJNR Am J Neuroradiol. 1994 Oct; 15(9): 1721-6.

PMCID:: PMC8333715

Summary PDF–3.0M

Select item 81003914.

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

Adam J. Guenzel, Andrea DeBarber, Kimiyo Raymond, Radhika Dhamija

JIMD Rep. 2021 May; 59(1): 3–9. Published online 2021 Jan 8. doi: 10.1002/jmd2.12197

PMCID:: PMC8100391

Abstract Article PDF–826K

Select item 79736125.

Quantification of Brain Damage in Cerebrotendinous Xanthomatosis with Magnetization Transfer MR Imaging

Matilde Inglese, Nicola DeStefano, Elisabetta Pagani, Maria T. Dotti, Giancarlo Comi, Antonio Federico, Massimo Filippi

AJNR Am J Neuroradiol. 2003 Mar; 24(3): 495–500.

PMCID:: PMC7973612

Abstract Article PDF–89K

Select item 77789756.

Ensembl 2021

Kevin L Howe, Premanand Achuthan, James Allen, Jamie Allen, Jorge Alvarez-Jarreta, M Ridwan Amode, Irina M Armean, Andrey G Azov, Ruth Bennett, Jyothish Bhai, Konstantinos Billis, Sanjay Boddu, Mehrnaz Charkhchi, Carla Cummins, Luca Da Rin Fioretto, Claire Davidson, Kamalkumar Dodiya, Bilal El Houdaigui, Reham Fatima, Astrid Gall, Carlos Garcia Giron, Tiago Grego, Cristina Guijarro-Clarke, Leanne Haggerty, Anmol Hemrom, Thibaut Hourlier, Osagie G Izuogu, Thomas Juettemann, Vinay Kaikala, Mike Kay, Ilias Lavidas, Tuan Le, Diana Lemos, Jose Gonzalez Martinez, José Carlos Marugán, Thomas Maurel, Aoife C McMahon, Shamika Mohanan, Benjamin Moore, Matthieu Muffato, Denye N Oheh, Dimitrios Paraschas, Anne Parker, Andrew Parton, Irina Prosovetskaia, Manoj P Sakthivel, Ahamed I Abdul Salam, Bianca M Schmitt, Helen Schuilenburg, Dan Sheppard, Emily Steed, Michal Szpak, Marek Szuba, Kieron Taylor, Anja Thormann, Glen Threadgold, Brandon Walts, Andrea Winterbottom, Marc Chakiachvili, Ameya Chaubal, Nishadi De Silva, Bethany Flint, Adam Frankish, Sarah E Hunt, Garth R IIsley, Nick Langridge, Jane E Loveland, Fergal J Martin, Jonathan M Mudge, Joanella Morales, Emily Perry, Magali Ruffier, John Tate, David Thybert, Stephen J Trevanion, Fiona Cunningham, Andrew D Yates, Daniel R Zerbino, Paul Flicek

Nucleic Acids Res. 2021 Jan 8; 49(D1): D884–D891. Published online 2020 Nov 2. doi: 10.1093/nar/gkaa942

PMCID:: PMC7778975

Abstract Article PDF–1.4M

Select item 77236527.

Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population

Shu Zhang, Wei Li, Rui Zheng, Bing Zhao, Yongqing Zhang, Dandan Zhao, Cuiping Zhao, Chuanzhu Yan, Yuying Zhao

Ann Transl Med. 2020 Nov; 8(21): 1372. doi: 10.21037/atm-20-2746

Correction in:: Ann Transl Med. 2021 Mar; 9(5): 442.

PMCID:: PMC7723652

Abstract Article PDF–1.6M

Select item 74972898.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 73939789.

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders—Single-Center Experience

Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Agnieszka Pollak, Maria Wypchło, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Joanna Pawłowska, Irena Jankowska

Front Pediatr. 2020; 8: 414. Published online 2020 Jul 24. doi: 10.3389/fped.2020.00414

PMCID:: PMC7393978

Abstract Article PDF–186K

Select item 738110410.

Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis

Irene Degrassi, Chiara Amoruso, Giuseppe Giordano, Marina Del Puppo, Andrea Mignarri, Maria Teresa Dotti, Mauro Naturale, Gabriella Nebbia

Front Pediatr. 2020; 8: 382. Published online 2020 Jul 16. doi: 10.3389/fped.2020.00382

PMCID:: PMC7381104

Abstract Article PDF–436K

Select item 716007611.

The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies

Aad Verrips, Maria Teresa Dotti, Andrea Mignarri, Bianca M. L. Stelten, Sue Verma, Antonio Federico

Neurol Sci. 2020; 41(4): 943–949. Published online 2019 Dec 20. doi: 10.1007/s10072-019-04169-8

PMCID:: PMC7160076

Abstract Article PDF–498K

Select item 675350112.

Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts

Sharon F. Freedman, Charlotte Brennand, John Chiang, Andrea DeBarber, Monte A. Del Monte, P. Barton Duell, John Fiorito, Randall Marshall

JAMA Ophthalmol. 2019 Nov; 137(11): 1312–1316. Published online 2019 Sep 19. doi: 10.1001/jamaophthalmol.2019.3639

PMCID:: PMC6753501

Abstract Article

Select item 561721313.

Genetic Leukoencephalopathies in Adults

Adeline Vanderver

Continuum (Minneap Minn) 2016 Jun; 22(3): 916–942. doi: 10.1212/CON.0000000000000338

PMCID:: PMC5617213

Abstract Article PDF–2.0M

Select item 545170814.

The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis

Francesca Rosini, Elena Pretegiani, Andrea Mignarri, Lance M. Optican, Valeria Serchi, Nicola De Stefano, Marco Battaglini, Lucia Monti, Maria T. Dotti, Antonio Federico, Alessandra Rufa

J Physiol. 2017 Jun 1; 595(11): 3607–3620. Published online 2017 Mar 14. doi: 10.1113/JP273670

PMCID:: PMC5451708

Abstract Article PDF–1.0M

Select item 444972415.

Mutations in the Bile Acid Biosynthetic Enzyme Sterol 27-Hydroxylase Underlie Cerebrotendinous Xanthomatosis

James J. Cali, Chih-Lin Hsieh, Uta Francke, David W. Russell

J Biol Chem. Author manuscript; available in PMC 2015 May 30.

Published in final edited form as: J Biol Chem. 1991 Apr 25; 266(12): 7779–7783.

PMCID:: PMC4449724

Abstract Article PDF–579K

Select item 378476516.

Psychiatric manifestations in cerebrotendinous xanthomatosis

M J Fraidakis

Transl Psychiatry. 2013 Sep; 3(9): e302. Published online 2013 Sep 3. doi: 10.1038/tp.2013.76

PMCID:: PMC3784765

Abstract Article PDF–771K

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