Results 221 to 230 of about 329,666 (328)
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano +18 morewiley +1 more sourceComorbidity burden in elderly high-grade glioma patients: impact on radiotherapy outcomes. [PDF]
BMC CancerLeiss SM, Wiestler B, Hou HX, Schmottermeyer D, Sackerer V, Diehl C, Peeken J, Borm K, Negwer C, Wagner A, Yakushev I, Delbridge C, Mitsdörffer M, Schmidt-Graf F, Meyer B, Combs S, Bernhardt D. +16 moreeuropepmc +1 more sourceDiffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.Jeong‐Won Jeong, Min‐Hee Lee, Hiroshi Uda, Yoon Ho Hwang, Michael Behen, Aimee Luat, Csaba Juhász, Eishi Asano +7 morewiley +1 more sourceA 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 morewiley +1 more sourceRAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).Caterina Del Regno, Giovanni Ermanis, Christian Lettieri, Andrea Bernardini, Gaia Pellitteri, Enrico Belgrado, Elena Betto, Gian Luigi Gigli, David De Monte, Marco Domenico Scanni, Marco Mucchiut, Giuseppe Damante, Mariarosaria Valente, Francesco Janes +13 morewiley +1 more sourceThe Relationship Between Inflammation and Central Nervous System in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Aim
Multiple sclerosis is an autoimmune demyelination disease that is seen especially in the young population and has a progressive course, causing motor, sensory, and cognitive deficits. In the literature, the pathogenesis of MS disease and the interconnection between the immune and central nervous system in the disease have not been fully ...Gamze Ansen, Ali Behram Salar, Abdulkadir Ermis, Erkingul Birday, Lutfu Hanoglu, Bayram Ufuk Sakul +5 morewiley +1 more source