Results 141 to 150 of about 863,797 (309)

imputed-seq-genotypes-12k-Chr5.93440000-94440000.vcf

, 2017
Imputed genotypes for variants within 1Mbp of the Chr5:93.94 LY QTL, for 12,000 ...
Thomas Lopdell (511314), Russell Snell (387740), Davis, Steve, Christine Couldrey (169434), Maksim Struchalin (166855), Steve Davis (5017841), Kathryn Tiplady (511313), Littlejohn, Mathew, Couldrey, Christine, Spelman, Richard, Struchalin, Maksim, Thomas Johnson (363281), Ric Sherlock (511317), Mathew Littlejohn (4690033), Tiplady, Kathryn, Sherlock, Ric, Richard Spelman (387738), Lopdell, Thomas, Johnson, Thomas, Keehan, Michael, Michael Keehan (4690036), Snell, Russell   +21 more
core   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

imputed-seq-genotypes-Chr15.27860000-28860000.vcf

, 2017
Imputed genotypes for variants within 1Mbp of the Chr15:28.36 LC QTL, for 357 ...
Thomas Lopdell (511314), Russell Snell (387740), Davis, Steve, Christine Couldrey (169434), Maksim Struchalin (166855), Steve Davis (5017841), Kathryn Tiplady (511313), Littlejohn, Mathew, Couldrey, Christine, Spelman, Richard, Struchalin, Maksim, Thomas Johnson (363281), Ric Sherlock (511317), Mathew Littlejohn (4690033), Tiplady, Kathryn, Sherlock, Ric, Richard Spelman (387738), Lopdell, Thomas, Johnson, Thomas, Keehan, Michael, Michael Keehan (4690036), Snell, Russell   +21 more
core   +1 more source

Arterial Spin‐Labeling MRI at the Cortical‐CSF Interface: A Novel Biomarker in Alzheimer Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background/Objective Arterial spin‐labeling (ASL) MRI can measure perfusion signal adjacent to CSF spaces and may provide information regarding CSF‐adjacent water transport physiology. We developed an automated pipeline to extract cortical‐CSF interface (IF) perfusion for comparison between Alzheimer disease (AD) and cognitively normal ...
Mona Asghariahmadabad, Pouya Metanat, Michael Thomas, Luke W. Bonham, Tyson Lam, Mehmet Kurt, Hong Nguyen, Tara Ellingson, Mauro Zucchelli, Stefano Casagranda, Quin Lu, Andreas M. Rauschecker, Leo Sugrue, Luis E. Savastano, Christopher P. Hess, Kamalini Ranasinghe, S. Andrew Josephson, Bruce L. Miller, Jennifer S. Yokoyama, Gil D. Rabinovici, Peter A. Ljubenkov, Lawren VandeVrede, Kambiz Nael   +22 more
wiley   +1 more source

Hepatite C na região de Maringá, Estado do Paraná, Brasil: diagnóstico sorológico, molecular e genotipagem = Hepatitis C in the region of Maringá, Paraná State, Brazil: serological and molecular diagnosis, and genotyping

Acta Scientiarum. Health Sciences, 2006
Foi realizado estudo retrospectivo de resultados de testes sorológico e molecular para detecção da infecção pelo vírus da hepatite C (VHC), em 4.288 pacientes atendidos pelo Laboratório de Ensino e Pesquisa em Análises Clínicas da Universidade Estadual ...
Edith Motomi Nishiyama Sato, Dennis Armando Bertolini   +1 more
doaj  

White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram, Guangwei Du, Sangam Kanekar, Nandakumar Nagaraja   +3 more
wiley   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Alzheimer's Disease Biomarkers Measured by Capillary Blood Collection Versus Venous Plasma and Cerebrospinal Fluid

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Blood biomarkers are increasingly critical for non‐invasive Alzheimer's Disease (AD) diagnostics and research but typically require on‐site processing. Remote point‐of‐care collection methods could enhance biomarker testing in clinical and research settings.
Sara Ho, Ziling Shen, Alexandria Lewis, Megha Patel, Anny Zheng, Gianna Proscino, Thaovy Ho, Jiangxia Wang, Marilyn Albert, Abhay Moghekar   +9 more
wiley   +1 more source

Diffuse MRI Edema Predicts Relapse in Cerebral Amyloid Angiopathy–Related Inflammation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify MRI predictors of relapse and quantify relapse and mortality risk in cerebral amyloid angiopathy–related inflammation (CAA‐RI). A secondary objective was to assess the association between mycophenolate mofetil use and relapse risk. Methods We performed a retrospective cohort study of 36 patients with CAA‐RI treated at the
G. Abbas Kharal, Gowtham Yerneni, Kim J. Griffin, Nicolas Thompson, Ken Uchino, Irene Katzan, Dolora Wisco, Abeer Farrag, Jayashree Sundarajan, Andrew Russman, M. Shazam Hussain   +10 more
wiley   +1 more source

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source