Results 151 to 160 of about 533,276 (294)

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

Fontaine progeroid syndrome with neonatal mitochondrial disease. [PDF]

Hum Genome Var
Riko M, Kawamoto D, Hirayama K, Tsuchihashi T, Suzuki T, Sugimoto T, Okazaki Y, Murayama K, Tokuhara D.   +8 more
europepmc   +1 more source

Mitochondrial transplantation as a promising therapy for mitochondrial diseases

, 2022
Tianguang Zhang, Chao‐Yu Miao
openalex   +1 more source

The Case of a 25‐Year‐Old Woman With Isolated Head Tremor

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study reported a 25‐year‐old woman with isolated head tremors as the main manifestation, along with type 1 diabetes, bilateral hearing loss, and leukoencephalopathy, who was diagnosed with mitochondrial disease due to a single large mtDNA deletion (m.8647‐16082del).
Ying Zhao, Zhihong Xu, Xingyu Zhuang, Yuying Zhao, Chuanzhu Yan, Kunqian Ji   +5 more
wiley   +1 more source

The Role of Estrogen in Mitochondrial Disease. [PDF]

Cell Mol Neurobiol
Huang X, Pan CH, Yin F, Peng J, Yang L.
europepmc   +1 more source

Mitochondrial disease and disorders of energy metabolism: A recognizable pattern of systemic disease

, 2000
C.A. Bay, G.L. Matika, Matteo Vecchio
openalex   +1 more source

Oxidative modification of mitochondrial proteins and cell death in Parkinson's disease [PDF]

, 2002
W. Maruyama, Makoto Naoi
openalex   +1 more source

Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey, Jennifer M. Farmer, David R. Lynch   +2 more
wiley   +1 more source

Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease. [PDF]

Front Neurol
Molla GK, Uzun ÖÜ, Agakisili HB, Genç E, Gülten ZA, Yıldırım T, Ersoy AS, Ak B, Gülbahçe A, Yıldız S, Çakar NE, Karaca M, Zübarioğlu T, Hişmi BÖ, Erdöl Ş, Önal H, Kara B, Gökçay GF.   +17 more
europepmc   +1 more source

Multi‐Omics Integration for Advancing Glioma Precision Medicine

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas are among the most malignant and aggressive tumors of the central nervous system, characterized by the absence of early diagnostic markers, poor prognosis, and a lack of effective treatments. Advances in high‐throughput technologies have facilitated a refined molecular classification of gliomas, incorporating genetic features. However,
Maria Guarnaccia, Valentina La Cognata, Giulia Gentile, Giovanna Morello, Sebastiano Cavallaro   +4 more
wiley   +1 more source