Results 281 to 290 of about 3,618,170 (327)

Chromosome level assembly and annotation of Cuscuta campestris Yunck. ("field dodder"), a model parasitic plant. [PDF]

G3 (Bethesda)
Cerda-Herrera JD, Zhang H, Wafula EK, Adhikari S, Park SY, Carey SB, Harkess A, Ralph PE, Westwood JH, Axtell MJ, dePamphilis CW.   +10 more
europepmc   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

High quality chromosome level genome assembly of Camellia fascicularis, an endangered plant in China. [PDF]

Sci Data
Xiao HX, Wu XQ, Yan FJ, Zeng YJ, Jia KH, Zhang GL, Ping YM, Cai L, Geng F.   +8 more
europepmc   +1 more source

Moyamoya Disease and the Risk of Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by the progressive narrowing of arteries at the base of the brain, forming abnormal collateral vascular networks. While vascular parkinsonism is noted in MMD, its link to Parkinson's disease (PD) has not been explored.
Dallah Yoo, Jeong‐Yong Shin, Rugyeom Lee, Jiwon Cheon, Ji Hun Kim, Doeun Kim, Jae‐Kyung Won, In‐Hwan Oh, Yunjong Lee, Tae‐Beom Ahn   +9 more
wiley   +1 more source

Genomic insights into the population structure and adaptive variation of Mullus barbatus in the Mediterranean Sea. [PDF]

BMC Ecol Evol
Massa P, Leitão HG, Manousaki T, Cariani A, Svardal H, Tsaparis D, Cannas R, Zane L, De Pooter T, Spedicato MT, Strazisar M, Ciofi C, Ferrari A, Diedericks G, Diroma MA, Formenti G, Ivanova P, Mc Cartney AM, Mouton A, Natali C, Marino IA, Tsigenopoulos CS.   +21 more
europepmc   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Chromosome-level genome assembly of Bienertia sinuspersici, Single-cell-C4 plant. [PDF]

Sci Data
Jung Sun K, Lee SJ, Chung H, Hwang I, Hwang YJ, Baek SY, Offermann S.   +6 more
europepmc   +1 more source

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

Human Polyomavirus BK Genome Analysis in BKPyV Induced Rodent Cell Lines. [PDF]

Microbiologyopen
Shioda S, Kasai F, Ozawa M, Ohtani A, Iemura M, Watanabe K, Kohara A.   +6 more
europepmc   +1 more source