Results 41 to 50 of about 2,812 (203)

NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges. [PDF]

, 2021
The identification of neurological disorders by next-generation sequencing (NGS)-based gene panels has helped clinicians understand the underlying physiopathology, resulting in personalized treatment for some rare diseases.
Atallah, I., Benninger, D., Castro Jimenez, M., Good, J.M., Kuntzer, T., Superti-Furga, A., Tran, C.   +6 more
core   +1 more source

Charge-tagging liquid chromatography–mass spectrometry methodology targeting oxysterol diastereoisomers [PDF]

, 2017
The introduction of a hydroxy group to the cholesterol skeleton introduces not only the possibility for positional isomers but also diastereoisomers, where two or more isomers have different configurations at one or more of the stereocentres but are not ...
Abdel-Khalik, Alison Dickson, Alvelius, Crick, Crick, DeBarber, Dzeletovic, Eylan Yutuc, Furster, Griffiths, Griffiths, Griffiths, Hult, Jonas Abdel-Khalik, Larsson, Lütjohann, McDonald, Meljon, Mitic, Murphy, Natowicz, Peter J. Crick, Quehenberger, Russell, Schroepfer, Shinkyo, Theofilopoulos, Thomas Hearn, Vilarinho, William J. Griffiths, Yuqin Wang   +30 more
core   +2 more sources

Cerebrotendinous xanthomatosis - A case report

Indian Journal of Radiology and Imaging, 2019
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular, vascular, and musculoskeletal symptoms from deposition of cholestanol and ...
Arshed Hussain Parry, Abdul Haseeb Wani, Muiez Bashir, Tariq A Gojwari   +3 more
doaj   +1 more source

Consensus Paper: Radiological Biomarkers of Cerebellar Diseases [PDF]

, 2015
Hereditary and sporadic cerebellar ataxias represent a vast and still growing group of diseases whose diagnosis and differentiation cannot only rely on clinical evaluation.
A D’Abreu, A Ginestroni, A Ieraci, A Inagaki, A Kelp, A Nocuń, A Poretti, A Poretti, A Rolfs, A Solodkin, A Varrone, AC Stanfield, AG Asokan, AJ Barkovitch, AJ Clapp, Alessandra Vella, Allison Jack, AM Tadesco, AM Wong, Andrea P. Jackowski, Andrea Righini, AR Luft, AR Luft, B Kuemerle, B Soong, BC Jung, C Andrés De, C Cheung, C Garel, C Good, C Jacova, C Limperopoulos, C Lukas, C Moller, C Parazzini, C Scaglione, CC Parker, Cecilia Parazzini, CH Lyoo, Christophe Habas, CJ Stoodley, CW Yoon, D Beitzke, DJG Schutter, DL Vargas, DS Woodruff-Park, E Apartis, E Canu, E Courchesne, E Matsusue, E Matsusue, E Pagani, E Prodi, ED Vidoni, F Brancati, F D’Agata, F Eichler, G Malinger, G Tedeschi, GS Young, H Akhlaghi, H Akhlaghi, H Jacobi, HB Cleavinger, I Ferrer, I Iltis, I Sousa, ID Wilkinson, J Honnorat, J Mazere, J Skefos, J Wegiel, JA Brunberg, JB Schulz, JL Whitwell, JM Kim, Jörg B. Schulz, K Andersen, K Brockmann, K Burk, K Burk, K Ishii, K Lasek, K Nanri, K Nanri, K Pierce, K Reetz, K Reetz, K Reetz, K Reetz, K Specht, K-D Choi, Kathrin Reetz, KB Loh, L Baldaçara, L Ji, L Schols, LA Corben, Leonardo Baldarçara, LI Wallis, LR Ramos, LSK Hokkanen, M Abele, M Anheim, M Bricout, M Catani, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Mascalchi, M Minnerop, M Rapoport, M Sjobeck, M Verly, M Walterfang, M Walterfang, M. Hadjivassiliou, MA Cheh, Mario Mascalchi, MC Bianchi, ME Steenweg, MR Hatab, N Boddaert, N Gharani, N Kimura, N Kimura, N Kimura, N Ramnani, N Stefano De, Nigel Hoggard, O Bas, OS Cohen, P Braga-Neto, P Brown, P Wang, PA Thomann, PS Wang, R Cabeza, R Della Nave, R Della Nave, R Hashimoto, R Scheid, R Sui, S Alcauter, S Basu, S Currie, S Currie, S Currie, S Currie, S Dohlinger, S Gilman, S Gilman, S Nagamitsu, S Ortega-Cuberoa, S Tanaka, SA Cooper, Sara Jane Webb, SH Fatemi, SH Fatemi, SH Fatemi, SH Fatemi, SJ Webb, SM Boesch, SM Ravizza, Stuart Currie, T Klockgether, T Tarui, T Wu, TD Miller, W Scharmüller, WR Kates, Y Bruecker De, Y Daaboul, Y Hosoi, Y Sunaga   +176 more
core   +1 more source

Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice [PDF]

, 2022
Use of next-generation sequencing, including whole-exome sequencing (WES) has not only allowed diagnosis to be reached in patients with atypical phenotypes, but also led to detection of new pathogenic variants, as well as to linking of specific clinical ...
Merello, Marcelo Jorge, Millar Vernetti, Patricio Alejandro, Rossi, Malco Damian, Ruiz Yanzi, María Agustina   +3 more
core   +1 more source

A case report on cerebrotendinous xanthomatosis [PDF]

, 2017
Cerebrotendinous xanthomatosis (CTX) is a rare hereditary neuro-metabolic disease in which deposition of cholesterol and cholestanol occurs in various tissues including CNS.
Babu, Abino Mariya, David, Emill Jame, John, Mareena, Nair, Raj, Rajendran, Shyju   +4 more
core   +2 more sources

Spinal cerebrotendinous xanthomatosis: A case report and literature review

Molecular Genetics and Metabolism Reports, 2021
Background: Classic cerebrotendinous xanthomatosis (CTX; OMIM #213700) manifests with chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms.
Isis Atallah, Diego San Millán, Wicki Benoît, Belinda Campos-Xavier, Andrea Superti-Furga, Christel Tran   +5 more
doaj   +1 more source

Vitamin D: Newer Concepts of Its Metabolism and Function at the Basic and Clinical Level. [PDF]

, 2020
The interest in vitamin D continues unabated with thousands of publications contributing to a vast and growing literature each year. It is widely recognized that the vitamin D receptor (VDR) and the enzymes that metabolize vitamin D are found in many ...
Bikle, Daniel D
core   +1 more source

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +1 more source

Tendon xanthomas as indicators of atherosclerotic burden on coronary arteries

Indian Heart Journal, 2013
The presence of tendon xanthomas is an almost certain indicator of familial hypercholesterolemia (FH). They also reflect coronary atherosclerotic burden and therefore must be treated aggressively.
Shivanand Patil, Jayashree Kharge, Vittal Bagi, Rangaraj Ramalingam   +3 more
doaj   +1 more source