Results 41 to 50 of about 133,054 (344)

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

A distinct neuromelanin magnetic resonance imaging pattern in parkinsonian multiple system atrophy

BMC Neurology, 2020
Background Parkinsonian variant of multiple system atrophy is a neurodegenerative disorder frequently misdiagnosed as Parkinson’s disease. No early imaging biomarkers currently differentiate these disorders.
Rita Moiron Simões, Ana Castro Caldas, Joana Grilo, Daisy Correia, Carla Guerreiro, Patrícia Pita Lobo, Anabela Valadas, Marguerita Fabbri, Leonor Correia Guedes, Miguel Coelho, Mario Miguel Rosa, Joaquim J. Ferreira, Sofia Reimão   +12 more
doaj   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

The cell cycle–apoptosis connection revisited in the adult brain [PDF]

, 2005
Adult neurogenesis is studied in vivo using thymidine analogues such as bromodeoxyuridine (BrdU) to label DNA synthesis during the S phase of the cell cycle.
Bauer, Sylvian, Patterson, Paul H.
core   +3 more sources

Fluid Biomarkers of Disease Burden and Cognitive Dysfunction in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying objective biomarkers for progressive supranuclear palsy (PSP) is crucial to improving diagnosis and establishing clinical trial and treatment endpoints. This study evaluated fluid biomarkers in PSP versus controls and their associations with regional 18F‐PI‐2620 tau‐PET, clinical, and cognitive outcomes.
Roxane Dilcher, Charles B. Malpas, Stuart J. McDonald, William T. O’Brien, Craig Despott, Kelly L. Bertram, Matthew P. Pase, Lukas Frontzkowski, Meng Law, Terence J. O’Brien, Lucy Vivash   +10 more
wiley   +1 more source

Allosteric Modulation of Pathological Ataxin‐3 Aggregation: A Path to Spinocerebellar Ataxia Type‐3 Therapies

Advanced Science, EarlyView.
This study uncovers a new allosteric site in the Josephin domain of ataxin‐3 targeted by the molecular tweezer CLR01, which modulates protein aggregation, improves synaptic function in neuronal cells, and delays motor dysfunction in animal models.
Alexandra Silva, Sara Duarte‐Silva, Pedro M. Martins, Beatriz Rodrigues, Débora Serrenho, Daniela Vilasboas‐Campos, Andreia Teixeira‐Castro, Julio Vieyto‐Nuñez, Joel Mieres‐Perez, Francisco Figueiredo, Martyna Podlasiak, Tatiana Van‐der‐Kellen, Joana Fraga, James Noble, Carter Lantz, Niki Sepanj, Daniela Monteiro‐Fernandes, Sara Guerreiro, Andreia Neves‐Carvalho, Joana Pereira‐Sousa, Frank‐Gerrit Klärner, Thomas Schrader, Joseph A. Loo, Annalisa Pastore, Elsa Sanchez‐Garcia, Gal Bitan, Ana Luísa Carvalho, Patrícia Maciel, Sandra Macedo‐Ribeiro   +28 more
wiley   +1 more source

Don't die like me: Which proteins are responsible for the selective neuronal vulnerability within the substantia nigra?

PLoS ONE
A hallmark of Parkinson's disease is the specific degeneration of dopaminergic neurons in the substantia nigra pars compacta. Interestingly, not all of these neurons are affected to the same extent.
Simone Steinbach, Mariana Molina, Lea T Grinberg, Luisa Aring, Annika Guntermann, Katrin Marcus, Helmut Heinsen, Renata E Paraizo Leite, Caroline May   +8 more
doaj   +1 more source

Intranasal administration of α-synuclein preformed fibrils triggers microglial iron deposition in the substantia nigra of Macaca fascicularis

Cell Death and Disease, 2021
Iron deposition is present in main lesion areas in the brains of patients with Parkinson’s disease (PD) and an abnormal iron content may be associated with dopaminergic neuronal cytotoxicity and degeneration in the substantia nigra of the midbrain ...
Jian-Jun Guo, Feng Yue, Dong-Yan Song, Luc Bousset, Xin Liang, Jing Tang, Lin Yuan, Wen Li, Ronald Melki, Yong Tang, Piu Chan, Chuang Guo, Jia-Yi Li   +12 more
doaj   +1 more source

Immunocytochemical localization of glutamate decarboxylase in rat substantia nigra [PDF]

, 1976
l-Glutamate decarboxylase (GAD, EC 4.1.1.15), the enzyme which catalyzes the α-decarboxylase of l-glutamate to form γ-aminobutyric acid (GABA), was localized both light and electron microscopically in rat substantia nigra by an immunoperoxidase method ...
Barber, R, Ribak, CE, Roberts, E, Saito, K, Vaughn, JE   +4 more
core   +1 more source

NDST3‐Induced Epigenetic Reprogramming Reverses Neurodegeneration in Parkinson's Disease

Advanced Science, EarlyView.
NDST3‐mediated epigenetic reprogramming revitalizes neuronal circuits in the substantia nigra and striatum to halt dopaminergic neuron degeneration and restore motor function in Parkinson's disease models. This strategy promotes neuronal maintenance and functional recovery, highlighting NDST3's therapeutic potential in neurodegenerative disorders ...
Yujung Chang, Yongwoo Na, Hyeonjoo Im, Garam Yang, Seungseon Yang, Hyun Soo Shim, Chunggoo Kim, GyeungYun Kim, Hyeok Ju Park, Hee Young Kim, Seung Eun Lee, Wonwoong Lee, Yoon Ha, Sungho Park, Jieun Kim, Won‐Young Cho, Woong Sun, Jong‐Seo Kim, Junsang Yoo   +18 more
wiley   +1 more source