Results 111 to 120 of about 876,901 (295)

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Allele-specific markers for alleles at the major vernalization and photoperiod response genes, primer sequence, PCR product size, annealing temperature and citation for the markers used in this study for the use of genotyping.

, 2018
Allele-specific markers for alleles at the major vernalization and photoperiod response genes, primer sequence, PCR product size, annealing temperature and citation for the markers used in this study for the use of genotyping.
Mina Kaviani (5703293), Robert Graf (1276674), Alexander Whittal (5703290), Alireza Navabi (802803), Gavin Humphreys (5703296)   +4 more
core   +1 more source

Limited antigenic diversity of Plasmodium falciparumapical membrane antigen 1 supports the development of effective multi-allele vaccines [PDF]

, 2014
Background: Polymorphism in antigens is a common mechanism for immune evasion used by many important pathogens, and presents major challenges in vaccine development. In malaria, many key immune targets and vaccine candidates show substantial polymorphism.
Drew, Damien R., Anders, Robin, Sheetij Dutta, Cross, Nadia, Senn, Nicolas, Hodder, AN, Dutta, Sheetij, Nicolas Senn, Osier, Faith H. A., Terheggen, Ulrich, Hodder, Anthony, Damien R Drew, Beeson, JG, Nadia J Cross, James G Beeson, Mugyenyi, Cleopatra, Osier, FHA, Alyssa E Barry, Ulrich Terheggen, Hodder, Anthony N., Barry, Alyssa, Siba, Peter, Mueller, I, Siba, PM, Beeson, James, Drew, DR, Stanisic, Danielle I., Terheggen, U, Anders, RF, Beeson, James G., Peter M Siba, Dutta, S, Cross, Nadia J., Stanisic, Danielle, Kevin Marsh, Faith HA Osier, Elliott, Salenna, Barry, AE, Jack S Richards, Anders, Robin F., Barry, Alyssa E., Elliott, Salenna R., Senn, N, Danielle I Stanisic, Stanisic, DI, Mueller, Ivo, Richards, Jack, Ivo Mueller, Marsh, K, Elliott, SR, Richards, Jack S., Drew, Damien, Anthony N Hodder, Mugyenyi, Cleopatra K., Cleopatra K Mugyenyi, Osier, Faith, Richards, JS, Robin F Anders, Cross, NJ, Salenna R Elliott, Marsh, Kevin, Mugyenyi, CK, Siba, Peter M.   +62 more
core   +2 more sources

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

The effect of LGB gene polymorphism on milk productivity indicators of Kholmogorsky cows

RUDN Journal of Agronomy and Animal Industries
In modern breeding work, considerable attention is paid to genetic resources of cattle, genetic assessment of which, with proper crossbreeding and selection, can increase efficiency of the entire industry.
Natalya A. Khudyakova, Ekaterina N. Shchipakova, Andrey S. Kashin   +2 more
doaj   +1 more source

Allele Mining in Tropical Fruit Crop Carica papaya L. Current Scenario and Future Perspective

Allele mining is a pathway to genomic selection that is in high demand to improve the crop features to fulfill the ever-increasing food demand, crop sustainability under changing global climate, and better economic out-turn in limited resources.
Ford, R, Ali, F
core   +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

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng, Diego Z. Carvalho, Shahid Karim, Anwar Chahal, Virend K. Somers   +4 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source