Results 201 to 210 of about 8,736,664 (283)

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

Embrapa Network for Brazilian Plant Genetic Resources Conservation. [PDF]

Biopreserv Biobank, 2018
Cunha Alves AA, Azevedo VCR.
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Seed Banking as Cryopower: A Cryopolitical Account of the Work of the International Board of Plant Genetic Resources, 1973-1984. [PDF]

Cult Agric Food Environ, 2019
Peres S.
europepmc   +1 more source

Genetics and Genomics of Plant genetic resources

Journal of Stress Physiology & Biochemistry, 2012
Börner, A., Khlestkina, E., Pshenichnikova, T., Osipova, S., Kobiljski, B., Landjeva, S., Simon, M., Nagel, M., REHMAN ARIF M.A., Neumann, K., Lohwasser, U., Röder, M.   +11 more
openaire   +1 more source

Exploration and Collection of Plant Genetic Resources in MAFF. Conservation of diversity of plant genetic resources.

Breeding Research, 1999
openaire   +2 more sources

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

Correction: Development and validation of a highdensity ‘Amahysnp’ genotyping array in grain Amaranth (Amaranthus hypochondriacus)

BMC Plant Biology
Rakesh Singh, Ajay Kumar Mahato, S. Rajkumar, A.K. Singh, Akshay Singh, Avantika Maurya, Rajat Gupta, Rakesh Bhardwaj, S. K. Kaushik, Sandeep Kumar, Veena Gupta, Kuldeep Singh, G. P. Singh   +12 more
doaj   +1 more source

The Association of Physical Function With Psychosocial Patient‐Reported Outcomes in People With Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective To evaluate how modifiable psychosocial factors and fatigue relate to physical functioning in patients with systemic lupus erythematosus (SLE). Methods In this cross‐sectional study of two demographically distinct cohorts (Approaches to Positive, Patient‐Centered Experiences of Aging with Lupus [APPEAL] and California Lupus Epidemiology Study
Mrinalini Dey, Jessica Fitzpatrick, Maria Dall'Era, Charmayne Dunlop‐Thomas, Courtney Hoge, S. Sam Lim, Patricia P. Katz, Jinoos Yazdany, Laura C. Plantinga   +8 more
wiley   +1 more source

Small-RNA analysis of pre-basic mother plants and conserved accessions of plant genetic resources for the presence of viruses. [PDF]

PLoS One, 2019
Rajamäki ML, Lemmetty A, Laamanen J, Roininen E, Vishwakarma A, Streng J, Latvala S, Valkonen JPT.   +7 more
europepmc   +1 more source