Results 121 to 130 of about 1,467,078 (263)

RBFOX1 association with age at onset of Alzheimer's disease. [PDF]

Alzheimers Dement
Xicota L, Cheng R, Andersen SL, Zmuda JM, Wojczynski M, Feitosa MF, Bradley J, Cruchaga C, Contreras AG, Hohman TJ, Reyes-Dumeyer D, Vardarajan BV, Cosentino S, Mayeux R, Lee JH, Barral S, Long‐Life Family Study (LLFS), Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA), and The National Institute on Aging Alzheimer's Disease Family Based Study (NIA‐LOAD FBS).   +18 more
europepmc   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Clinical, Dietary, Lifestyle and Genetic Factors Associated With Age at Onset of Esophageal Adenocarcinoma. [PDF]

United European Gastroenterol J
Koch V, Gockel I, Reingruber J, Kreuser N, Bigge J, Venerito M, Alakus H, May A, Gerges C, Thieme R, Heider D, Hillmer AM, Ebigbo A, Bruns CJ, Lang H, Messmann H, Rösch T, Wissniowski TT, Müller M, Denzer UW, Nöthen MM, Vieth M, Thrift AP, Maj C, Schumacher J.   +24 more
europepmc   +1 more source

Effectiveness of rTMS on Working Memory and Inhibitory Impairments in Patients With Post‐Stroke Executive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao, Rongwei Du, Zhujun Wang, Yang Gao, Meiling Cheng, Xianglong Wang, Wen Wu   +6 more
wiley   +1 more source

Genetic variation in antidiabetic drug targets: associations with Parkinson's disease risk and age at onset. [PDF]

NPJ Parkinsons Dis
Vincze K, Szwajda A, Ploner A, Karlsson R, Kang X, Tang B, Qin C, Domenighetti C, Sugier PE, Ashok Kumar Sreelatha A, Schulte C, Portugal B, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Mellick GD, Zimprich A, Pirker W, Rogaeva E, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschlander AB, Burbulla LF, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Straniero L, Zecchinelli A, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Matsuo H, Nakayama A, Hattori N, Nishioka K, Chung SJ, Kim YJ, Kolber P, Van de Warrenburg BP, Bloem BR, Toft M, Pihlstrøm L, Correia Guedes L, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Ran C, Belin AC, Puschmann A, Clarke CE, Morrison KE, Tan M, Krainc D, Farrer MJ, Landoulsi Z, Kruger R, Gasser T, Elbaz A, Sharma M, Pedersen NL, Carlsson S, Hägg S, Wirdefeldt K, Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease (COURAGE-PD) Consortium, Domenighetti C, Sugier PE, Ashok Kumar Sreelatha A, Schulte C, Portugal B, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Mellick GD, Zimprich A, Pirker W, Rogaeva E, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschlander AB, Burbulla LF, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Straniero L, Zecchinelli A, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Matsuo H, Nakayama A, Hattori N, Nishioka K, Chung SJ, Kim YJ, Kolber P, Van de Warrenburg BP, Bloem BR, Toft M, Pihlstrøm L, Correia Guedes L, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Ran C, Belin AC, Puschmann A, Clarke CE, Morrison KE, Tan M, Krainc D, Farrer MJ, Landoulsi Z, Kruger R, Gasser T, Elbaz A, Sharma M, Wirdefeldt K.   +156 more
europepmc   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

When Stones Begin: Age of Onset Reveals the Systemic Metabolic Nature of Nephrolithiasis. [PDF]

Res Rep Urol
Alrabadi A, Alshraideh BA, Almomani EY, Alkayed Y, Abu-Suaileek MH, Alsougier HA, Etoom SA, Qablan A, Alrabadi Z.   +8 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Leukocytes Transcriptome Analysis of Genes Associated with Epilepsy Duration and Age of Onset. [PDF]

Mol Neurobiol
Sarangdhar MA, Zelano J.
europepmc   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source