Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Autor: Foley, AR, Menezes, MP, Pandraud, A, Gonzalez, MA, Al-Odaib, A, Abrams, AJ, Sugano, K, Yonezawa, A, Manzur, AY, Burns, J, Hughes, I, McCullagh, BG, Jungbluth, H, Lim, MJ, Lin, J-P, Megarbane, A, Urtizberea, JA, Shah, AH, Antony, J, Webster, R, Broomfield, A, Ng, J, Mathew, AA, O'Byrne, JJ, Forman, E, Scoto, M, Prasad, M, O'Brien, K, Olpin, S, Oppenheim, M, Hargreaves, IP, Land, JM, Wang, MX, Carpenter, K, Horvath, R, Straub, V, Lek, M, Gold, W, Farrell, MO, Brandner, S, Phadke, R, Matsubara, K, McGarvey, ML, Scherer, SS, Baxter, PS, King, MD, Clayton, P, Rahman, S, Reilly, MM, Ouvrier, RA, Christodoulou, J, Zuechner, S, Muntoni, F, Houlden, H

Publikováno v: Brain : a journal of neurology. 137(Pt 1)

Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progress

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5b801dd7ce737bab556498e86a7831f7
https://pubmed.ncbi.nlm.nih.gov/24424912

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Can we predict the development of haemolytic uraemic syndrome in the early stage of Escherichia coli O157 infection?

Autor: Joishy M, Jauhari P, Mathew AA, Rangarajan T

Publikováno v: Archives of Disease in Childhood; Feb2008, Vol. 93 Issue 2, p180-181, 2p

High-Risk Histopathological Features of Retinoblastoma following Primary Enucleation: A Global Study of 1426 Patients from 5 Continents.

Autor: Kaliki S; The Operation Eyesight Institute for Eye Cancer, LV Prasad Eye Institute, Hyderabad, India., Vempuluru VS; The Operation Eyesight Institute for Eye Cancer, LV Prasad Eye Institute, Hyderabad, India., Bakal KR; The Operation Eyesight Institute for Eye Cancer, LV Prasad Eye Institute, Hyderabad, India., Dorji S; The Operation Eyesight Institute for Eye Cancer, LV Prasad Eye Institute, Hyderabad, India., Tanna V; The Operation Eyesight Institute for Eye Cancer, LV Prasad Eye Institute, Hyderabad, India., Shields CN; The Operation Eyesight Institute for Eye Cancer, LV Prasad Eye Institute, Hyderabad, India., Fallon SJ; The Operation Eyesight Institute for Eye Cancer, LV Prasad Eye Institute, Hyderabad, India., Raval V; The Operation Eyesight Institute for Eye Cancer, LV Prasad Eye Institute, Hyderabad, India., Ahmad A; Children Hospital, Lahore, Pakistan., Mushtaq A; Children Hospital, Lahore, Pakistan., Hussain M; Children Hospital, Lahore, Pakistan., Yousef YA; King Hussein Cancer Center, Amman, Jordan., Mohammad M; King Hussein Cancer Center, Amman, Jordan., Roy SR; Chittagong Eye Infirmary and Training Complex, Chittagong, Bangladesh., Huque F; Chittagong Eye Infirmary and Training Complex, Chittagong, Bangladesh., Tatiana U; Department of Surgical Methods of Treatment with chemotherapy No. 1 (Head and Neck Tumors), N. N. Blokhin National Medical Research Center of Oncology, Moscow, Russian Federation.; L.A. Durnov Department of Pediatric Oncology of the Russian Medical Academy of Continuing Professional Education, Moscow, Russian Federation., Yuri S; Department of Surgical Methods of Treatment with chemotherapy No. 1 (Head and Neck Tumors), N. N. Blokhin National Medical Research Center of Oncology, Moscow, Russian Federation., Vladimir P; Department of Surgical Methods of Treatment with chemotherapy No. 1 (Head and Neck Tumors), N. N. Blokhin National Medical Research Center of Oncology, Moscow, Russian Federation.; L.A. Durnov Department of Pediatric Oncology of the Russian Medical Academy of Continuing Professional Education, Moscow, Russian Federation.; Department of ENT Diseases of the Faculty of Pediatrics of the Federal State Educational Institution of Higher Education of N.I. Pirogov Russian National Research Medical University, Moscow, Russian Federation., Zambrano SC; Pediatric Oncology Department, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru., Alarcón-León S; Pediatric Oncology Department, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru., Valdiviezo-Zapata C; Pediatric Oncology Department, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru., Vargas-Martorellet M; Pediatric Oncology Department, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru., Gutierrez-Chira C; Pediatric Oncology Department, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru., Buitrago M; Pediatric Oncology Department, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru., Ortiz JS; Pediatric Oncology Department, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru., Diaz-Coronado R; Pediatric Oncology Department, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.; Universidad Peruana Cayetano Heredia, Lima, Peru., Tripathy D; LV Prasad Eye Institute, Bhubaneswar, India., Rath S; LV Prasad Eye Institute, Bhubaneswar, India., Patil G; LV Prasad Eye Institute, Bhubaneswar, India., Berry JL; Children's Hospital Los Angeles & USC Roski Eye Institute, Los Angeles, USA.; Keck School of Medicine, Los Angeles, USA., Pike S; Children's Hospital Los Angeles & USC Roski Eye Institute, Los Angeles, USA.; Keck School of Medicine, Los Angeles, USA., Brown B; Children's Hospital Los Angeles & USC Roski Eye Institute, Los Angeles, USA.; Keck School of Medicine, Los Angeles, USA., Tanabe M; Kyushu University, Fukuoka, Japan., Frenkel S; Hadassah Medical Center, Jerusalem, Israel., Eiger-Moscovich M; Hadassah Medical Center, Jerusalem, Israel., Pe'er J; Hadassah Medical Center, Jerusalem, Israel., Shields CL; Ocular Oncology Service, Wills Eye Hospital, Philadelphia, USA., Eagle RC Jr; Ocular Oncology Service, Wills Eye Hospital, Philadelphia, USA., Laiton A; Ocular Oncology Service, Wills Eye Hospital, Philadelphia, USA., Velasco AM; Ocular Oncology Service, Wills Eye Hospital, Philadelphia, USA., Vega K; Ocular Oncology Service, Wills Eye Hospital, Philadelphia, USA., DeSimone J; Ocular Oncology Service, Wills Eye Hospital, Philadelphia, USA., Bejjanki KM; LV Prasad Eye Institute, Vijayawada, India., Kapoor AG; LV Prasad Eye Institute, Vijayawada, India., Venkataraman A; Royal London Hospital, Barts Health NHS Trust, London, UK., Bryant V; Royal London Hospital, Barts Health NHS Trust, London, UK., Reddy MA; Royal London Hospital, Barts Health NHS Trust, London, UK., Sagoo MS; Royal London Hospital, Barts Health NHS Trust, London, UK.; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital.; UCL Institute of Ophthalmology, London, UK., Hubbard GB 3rd; Emory University School of Medicine, Georgia, USA., Azarcon CP; Emory University School of Medicine, Georgia, USA., Olson TA; Emory University School of Medicine, Georgia, USA., Grossniklaus H; Emory University School of Medicine, Georgia, USA., Rolfe O; Royal Children's Hospital, Victoria Australia., Staffieri SE; Royal Children's Hospital, Victoria Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.; University of Melbourne, Melbourne, Australia., O'Day R; Royal Children's Hospital, Victoria Australia.; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia., Mathew AA; Royal Children's Hospital, Victoria Australia., Elder JE; Royal Children's Hospital, Victoria Australia.; University of Melbourne, Melbourne, Australia., McKenzie JD; Royal Children's Hospital, Victoria Australia., Fabian ID; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel., Shemesh R; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel., Vishnevskia-Dai V; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel., Ali MH; The Operation Eyesight Institute for Eye Cancer, LV Prasad Eye Institute, Hyderabad, India., Jakati S; Ophthalmic Pathology Laboratory, LV Prasad Eye Institute, Hyderabad, India., Mishra DK; Ophthalmic Pathology Laboratory, LV Prasad Eye Institute, Hyderabad, India., Reddy Palkonda VA; The Operation Eyesight Institute for Eye Cancer, LV Prasad Eye Institute, Hyderabad, India.

Publikováno v: Retina (Philadelphia, Pa.) [Retina] 2024 Aug 14. Date of Electronic Publication: 2024 Aug 14.

Targeting Viral ORF3a Protein: A New Approach to Mitigate COVID-19 Induced Immune Cell Apoptosis and Associated Respiratory Complications.

Autor: Treeza M M; Amrita School of Pharmacy, Amrita Institute of Medical Sciences & Research Centre, Amrita Vishwa Vidyapeetham, Kochi-682041, India., Augustine S; Amrita School of Pharmacy, Amrita Institute of Medical Sciences & Research Centre, Amrita Vishwa Vidyapeetham, Kochi-682041, India., Mathew AA; Amrita School of Pharmacy, Amrita Institute of Medical Sciences & Research Centre, Amrita Vishwa Vidyapeetham, Kochi-682041, India., Kanthlal SK; Amrita School of Pharmacy, Amrita Institute of Medical Sciences & Research Centre, Amrita Vishwa Vidyapeetham, Kochi-682041, India., Panonummal R; Amrita School of Pharmacy, Amrita Institute of Medical Sciences & Research Centre, Amrita Vishwa Vidyapeetham, Kochi-682041, India.

Publikováno v: Advanced pharmaceutical bulletin [Adv Pharm Bull] 2023 Nov; Vol. 13 (4), pp. 678-687. Date of Electronic Publication: 2023 Jan 23.