Results 71 to 80 of about 2,296,312 (307)

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source

Rett Syndrome

Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999), 2003
This article is focus on the currently knowledge about Rett syndrome, based on the more recent information in the international literature on genetic and epidemiological aspects of this condition, as well as on its clinical and laboratory diagnosis, neuropathology, electrophysiology.
Alan K. Percy, Joanna Dragich, N. Carolyn Schanen   +2 more
openaire   +3 more sources

Treating Rett syndrome: from mouse models to human therapies

Mammalian Genome, 2019
Rare diseases are very difficult to study mechanistically and to develop therapies for because of the scarcity of patients. Here, the rare neuro-metabolic disorder Rett syndrome (RTT) is discussed as a prototype for precision medicine, demonstrating how ...
Neeti Vashi, M. Justice
semanticscholar   +1 more source

The Digestive System and Nutritional Considerations for Individuals with Rett Syndrome

The Scientific World Journal, 2006
Rett syndrome (RS) is a neurodevelopmental syndrome of genetic origin that mainly affects females. Individuals diagnosed with RS exhibit a variety of functional difficulties that impair their quality of life.
Meir Lotan, Lilit Zysman
doaj   +1 more source

Flipping the Switch: MeCP2‐Mediated Lactylation Rewires Microglial Metabolism and Inflammation via the HK2/mTOR Axis in Poststroke Neuroinflammation

Advanced Science, EarlyView.
Stroke‐induced lactate accumulation promotes p300‐mediated lactylation of methyl‐CpG binding protein 2 (MeCP2) at lysine 210, which reprograms microglial metabolism toward glycolysis and activates the hexokinase 2 (HK2)/mTOR axis. This cascade promotes proinflammatory responses and impairs neurofunctional outcomes.
Zengyu Zhang, Shanshan Huang, Yong Wang, Zhiwen Jiang, Zhuohang Liu, Chenran Wang, Rong Ji, Yiwen Yuan, Xueyu Mao, Kaicheng Yang, Huicong Niu, Yanqin Gao, Jing Zhao   +12 more
wiley   +1 more source

Development of trofinetide for the treatment of Rett syndrome: from bench to bedside

Frontiers in Pharmacology
Rett syndrome (RTT) is rare neurodevelopmental disorder caused by mutations in the MECP2 gene that encodes methyl-CpG-binding protein 2 (MeCP2), a DNA-binding protein with roles in epigenetic regulation of gene expression.
Melissa Kennedy, Larry Glass, Daniel G. Glaze, Steve Kaminsky, Alan K. Percy, Jeffrey L. Neul, Nancy E. Jones, Daniela Tropea, Joseph P. Horrigan, Paige Nues, Kathie M. Bishop, James M. Youakim   +11 more
doaj   +1 more source

How reconstructive surgery combined with physiotherapy for a painful nontraumatic patellar dislocation enabled a woman with Rett syndrome to become pain free and remain physically active: A case report

Clinical Case Reports, 2019
Key Clinical Message The effects of orthopedic measures, with the exception of scoliosis surgery, are rarely described in individuals with Rett syndrome.
Lena Svedberg, Bengt Herngren, Piotr Michno   +2 more
doaj   +1 more source

Deficits in skilled motor and auditory learning in a rat model of Rett syndrome

Journal of Neurodevelopmental Disorders, 2020
Background Rett syndrome is an X-linked neurodevelopmental disorder caused by a mutation in the gene MECP2. Individuals with Rett syndrome display developmental regression at an early age, and develop a range of motor, auditory, cognitive, and social ...
Katherine S. Adcock, Abigail E. Blount, Robert A. Morrison, Amanda Alvarez-Dieppa, Michael P. Kilgard, Crystal T. Engineer, Seth A. Hays   +6 more
doaj   +1 more source

Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome

Italian Journal of Pediatrics, 2022
Background Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking.
Sergio Ghirardo, Letizia Sabatini, Alessandro Onofri, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Daria Diodato, Lorena Travaglini, Fabrizia Stregapede, Marta Luisa Ciofi degli Atti, Claudio Cherchi, Renato Cutrera   +10 more
doaj   +1 more source

Structure‐Guided Engineering of a Promiscuous O‐Methyltransferase for a SAM Regeneration Biocatalysis Platform of Methylated Pharmaceuticals

Advanced Science, EarlyView.
A substrate promiscuous and regioselective O‐methyltransferase, SmOMT, is functionally and structurally characterized. A double mutant, SmOMTE152A/I306A, exhibited enhanced catalytic activity. By coupling this mutant with a mutant halide methyltransferase, AtHMTV140T, for SAM regeneration, a superior artificial fusion enzyme, AtHMTV140T‐L95‐SmOMTE152A ...
Xiran Xiong, Jun Song, Shihan Li, Lu Jin, Qi He, Baohui Zhang, Yan Cao, Shanyong Yi, Yanfang Yang, Xiang Li, Juan Li, Wei Huang   +11 more
wiley   +1 more source