Results 51 to 60 of about 3,973 (174)

RTA‐408 Enhances Radiosensitivity and Inhibited Tumor Progression via JNK Pathway in Glioblastoma

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Glioblastoma (GBM) is an aggressive brain tumor with poor prognosis owing to its high invasiveness and resistance to therapy. RTA‐408, a synthetic triterpenoid and nuclear factor erythroid 2‐related factor 2 activator, exhibits anti‐inflammatory and anti‐cancer properties; however, its effects on GBM remain unclear. This study investigated the
Hung‐Pei Tsai, Hao Qin, Yoon Bin Chong, I‐Hsiang Chen, Shih‐Hsun Kuo, Tzu‐Ting Tseng, Ann‐Shung Lieu   +6 more
wiley   +1 more source

Ataxia due to vitamin E deficiency: A case report and updated review

Clinical Case Reports, 2022
Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in developing countries with unknown prevalence. AVED is an autosomal‐recessive disorder, which is characterized by ataxia, areflexia, and proprioceptive and vibratory sensory ...
Sangharsha Thapa, Sangam Shah, Swati Chand, Sanjit Kumar Sah, Pawan Gyawali, Sandip Paudel, Pitambar Khanal   +6 more
doaj   +1 more source

Genetics of Friedreich Ataxia

Pediatric Neurology Briefs, 1997
Genotype-phenotype correlations in a group of 100 patients with typical Friedreich ataxia (FRDA), and in three smaller clinically atypical groups (Arcadian FRDA, late-onset FRDA (LOFA), and FRDA with retained reflexes (FARR)), were studied at the Centre ...
J Gordon Millichap
doaj   +1 more source

Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients

Movement Disorders, EarlyView.
Abstract Background Parkinsonism may be observed in multiple neurodegenerative diseases, including GRN‐associated frontotemporal dementia (FTD‐GRN), complicating the differential diagnosis of Parkinson's disease (PD). Objectives To investigate the presence of GRN variants in a large group of PD patients.
Christian A. Ganoza, Ana Westenberger, Jefri J. Paul, Filipa Curado, Jörg Rennecke, Sumanth Mannepalli, Emir Zonic, Deepa Saravanakumar, Omid Paknia, Ruslan Al‐Ali, Björn‐Hergen Laabs, Ilona Csoti, Franco Valzania, Wim Vandenberghe, Katrin Reetz, Mitra Afshari, Sharon Hassin‐Baer, Erich Talamoni Fonoff, Doreen Gruber, Anna de Rosa, Thomas Musacchio, Patricia de Carvalho Aguiar, Anna Negrotti, Vitor Tumas, Juan Carlos Gomez‐Esteban, Tanya Gurevich, Nicola Pavese, Jaime Kulisevsky, Esther Sammler, Christine Klein, Peter Bauer, Christian Beetz   +31 more
wiley   +1 more source

Pharmacokinetics and pharmacodynamics of the novel Nrf2 activator omaveloxolone in primates

Drug Design, Development and Therapy, 2019
Scott A Reisman, Sarabjit S Gahir, Chun-Yue I Lee, Joel W Proksch, Mitsumasa Sakamoto, Keith W Ward Reata Pharmaceuticals, Inc., Irving, TX 75063, USA Background: Omaveloxolone is a synthetic oleanane triterpenoid that pharmacologically activates Nrf2,
Reisman SA, Gahir SS, Lee CY, Proksch JW, Sakamoto M, Ward KW   +5 more
doaj  

Multimodal Imaging Investigation of the Dentato‐Thalamo‐Cortical Pathway in Friedreich's Ataxia

Movement Disorders, EarlyView.
Abstract Background Friedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato‐thalamo‐cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.
Yinghua Jing, Imis Dogan, Ravi Dadsena, Jennifer Faber, Jörg B. Schulz, Kathrin Reetz, Sandro Romanzetti, on behalf of the FACROSS study group, Stella A. Lischewski, Kerstin Konrad, Miguel Pishnamaz, Maximillian Praster, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Katharina Marx‐Schütt, Nikolaus Marx, Julia Möllmann, Malte Jacobsen, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +22 more
wiley   +1 more source

Ataxia with vitamin E deficiency associated with deafness

The Turkish Journal of Pediatrics, 2008
Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive disorder, usually with a phenotype resembling Friedreich ataxia, caused by selective impairment of gastrointestinal vitamin E absorption.
Bülent Kara, Abdullah Uzümcü, Oya Uyguner, Rasim Ozgür Rosti, Ayça Koçbaş, Meral Ozmen, Hülya Kayserili   +6 more
doaj  

Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data

Annals of Clinical and Translational Neurology
Objective The natural history of Friedreich ataxia is being investigated in a multi‐center longitudinal study designated the Friedreich ataxia Clinical Outcome Measures Study (FACOMS).
David R. Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Lisa Weissfeld, Colin Meyer   +16 more
doaj   +1 more source

Ataxias cerebelares hereditárias: do martelo ao gen Hereditary cerebellar ataxias from neurological hammer to genetics

Arquivos de Neuro-Psiquiatria, 1997
As heredoataxias constituem grupo complexo de doenças neurodegenerativas hereditárias, para o qual várias formas de classificação clínica e patológica foram propostas com sucesso variável.
Walter Oleschko Arruda, Hélio A. Ghizoni Teive   +1 more
doaj   +1 more source

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

Movement Disorders, EarlyView.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, Jeroen de Vries, Corien Verschuuren‐Bemelmans, Vincent Odekerken, Sirwan K.L. Darweesh, Mark Huisman, Mayke Oosterloo, Arthur Buijink, Jaron van de Wardt, Els Vanhoutte, Tsz Hang Wong, Lisette Koens, Eva de Boer, Judith van Gaalen, Martijn Beudel, Dareia S. Roos, Jorrit I. Hoff, Thimo Cornelissen, Meyke Schouten, Thatjana Gardeichik, Erica van der Looij, Christine Klein, Joanne Trinh, Erik‐Jan Kamsteeg, Bart van de Warrenburg   +26 more
wiley   +1 more source