Results 11 to 20 of about 5,063,966 (287)

andersen-lab/ivar: v1.3.2

, 2023
What's Changed Issue 79 by @cmaceves in https://github.com/andersen-lab/ivar/pull/117 Implementing more efficient sort method. by @cmaceves in https://github.com/andersen-lab/ivar/pull/118 issue 40 by @cmaceves in https://github.com/andersen-lab/ivar ...
Jennifer Liddle, dkj, Étienne Mollier, Karthik, Jacob Hayes, Kristian Andersen, Chrissy Aceves, Just Call Me Al, Finlay Maguire, Peter Kruczkiewicz   +9 more
core   +1 more source

Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities [PDF]

Arquivos de Neuro-Psiquiatria, 2006
Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea ...
Célia H. Tengan, Antonio C. Antunes, José R. Bauab, Gilmar F. Prado, Gilberto M. Manzano, Alberto A. Gabbai   +5 more
doaj   +1 more source

Markedly reduced ventricular arrhythmia during the peripartum period in a pregnant woman with Andersen-Tawil syndrome

Journal of Arrhythmia, 2012
Andersen-Tawil syndrome (ATS), also known as long QT syndrome type 7, is a rare autosomal dominant disease caused by a KCNJ2 mutation. The characteristic triad of ATS is periodic paralysis, dysmorphic features, and ventricular arrhythmia.
Chizuko A. Kamiya, Wataru Shimizu, Yoshinari Kabayashi, Takekazu Miyoshi, Chinami Horiuchi, Takashi Umekawa, Kaoru Yamanaka, Reiko Neki, Shinji Katsuragi, Jun Yoshimatsu, Tomoaki Ikeda   +10 more
doaj   +1 more source

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
core   +1 more source

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum

Frontiers in Genetics, 2022
Purpose: Glycogen storage disease type IV (GSD IV) has historically been divided into discrete hepatic (classic hepatic, non-progressive hepatic) and neuromuscular (perinatal-congenital neuromuscular, juvenile neuromuscular) subtypes. However, the extent
Bridget T. Kiely, Rebecca L. Koch, Leticia Flores, Danielle Burner, Samantha Kaplan, Priya S. Kishnani   +5 more
doaj   +1 more source

Biography: Per Pinstrup-Andersen

, 2009
Biography of Per Pinstrup-Andersen, Professor, Division of Nutritional ...
Pinstrup-Andersen, Per
core   +6 more sources

Dissecting the limited genetic overlap of Parkinson's and Alzheimer's disease

Annals of Clinical and Translational Neurology, 2022
Parkinson's disease and Alzheimer's disease show overlapping features both clinically and neuropathologically and elucidating shared mechanisms could have important implications for therapeutic strategies.
Maren Stolp Andersen, Manuela Tan, Inge R. Holtman, John Hardy, International Parkinson's Disease Genomics Consortium, Lasse Pihlstrøm   +5 more
doaj   +1 more source

Case report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis

Frontiers in Neurology, 2023
Hypokalemic periodic paralysis (HPP) is a heterogeneous group of diseases characterized by intermittent episodes of delayed paralysis of skeletal muscle with episodes of hypokalemia, caused by variants in CACNA1S or SCN4A genes, or secondary to ...
Zhi Zhang, Banghui Xiao
doaj   +1 more source

The Distribution Characteristics of Aerosol Bacteria in Different Types of Pig Houses

Animals, 2022
With the development of modern pig raising technology, the increasing density of animals in pig houses leads to the accumulation of microbial aerosols in pig houses.
Huan Cui, Cheng Zhang, Juxiang Liu, Shishan Dong, Kui Zhao, Ligong Chen, Zhaoliang Chen, Yucheng Sun, Zhendong Guo   +8 more
doaj   +1 more source

Inwardly Rectifying Potassium Channel Kir2.1 and its “Kir-ious” Regulation by Protein Trafficking and Roles in Development and Disease

Frontiers in Cell and Developmental Biology, 2022
Potassium (K+) homeostasis is tightly regulated for optimal cell and organismal health. Failure to control potassium balance results in disease, including cardiac arrythmias and developmental disorders.
Natalie A. Hager, Ceara K. McAtee, Mitchell A. Lesko, Allyson F. O’Donnell   +3 more
doaj   +1 more source